{ "uniprot_canonical_ac": "P13942-1", "uniprot_ac": "P13942", "uniprot_id": "COBA2_HUMAN", "mass": { "chemical_mass": 171791.0, "monoisotopic_mass": 171791.0 }, "refseq": { "ac": "NP_001157243", "name": "collagen alpha-2(XI) chain isoform 4 precursor", "summary": "This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243" }, "gene_names": [ { "name": "COL11A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13942", "id": "P13942" }, { "name": "COL11A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243", "id": "NP_001157243" }, { "name": "DFNA13; DFNB53; FBCG2; HKE5; OSMEDA; OSMEDB; PARP; STL3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243", "id": "NP_001157243" }, { "name": "RP5-1033B10.5-001", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13942", "id": "P13942" }, { "name": "hCG_2039805", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13942", "id": "P13942" } ], "protein_names": [ { "name": "Collagen alpha-2(XI) chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13942" }, { "name": "collagen alpha-2(XI) chain isoform 4 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243", "id": "NP_001157243" }, { "name": "collagen alpha-2(XI) chain; pro-a2 chain of collagen type XI; collagen, type XI, alpha 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243", "id": "NP_001157243" } ], "function": [ { "annotation": "Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort.", "evidence": [ { "database": "RefSeq", "id": "NP_001157243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243" }, { "database": "PubMed", "id": "37646720", "url": "https://glygen.org/publication/PubMed/37646720" } ] }, { "annotation": "COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001157243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243" }, { "database": "PubMed", "id": "37462524", "url": "https://glygen.org/publication/PubMed/37462524" } ] }, { "annotation": "May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.", "evidence": [ { "database": "UniProtKB", "id": "P13942", "url": "https://www.uniprot.org/uniprot/P13942#function" } ] }, { "annotation": "The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001157243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243" }, { "database": "PubMed", "id": "36553626", "url": "https://glygen.org/publication/PubMed/36553626" } ] }, { "annotation": "This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001157243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243" } ] }, { "annotation": "Type I collagen is a member of group I collagen (fibrillar forming collagen).", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DFS1", "url": "https://www.uniprot.org/uniprot/A0A0C4DFS1#function" }, { "database": "UniProtKB", "id": "ARBA00003647", "url": "https://www.uniprot.org/uniprot/ARBA00003647#function" }, { "database": "UniProtKB", "id": "A0A140TA54", "url": "https://www.uniprot.org/uniprot/A0A140TA54#function" }, { "database": "UniProtKB", "id": "A0A140TA43", "url": "https://www.uniprot.org/uniprot/A0A140TA43#function" }, { "database": "UniProtKB", "id": "A0A0G2JL78", "url": "https://www.uniprot.org/uniprot/A0A0G2JL78#function" } ] } ], "disease": [ { "disease_id": "DOID:0080026", "recommended_name": { "id": "DOID:0080026", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080026", "name": "otospondylomegaepiphyseal dysplasia, autosomal recessive", "description": "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss." }, "synonyms": [ { "id": "DOID:0080026", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080026", "name": "OSMEDB", "description": "" }, { "id": "DOID:0080026", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080026", "name": "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS", "description": "" }, { "id": "DOID:0080026", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080026", "name": "NANCE-INSLEY SYNDROME", "description": "" }, { "id": "DOID:0080026", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080026", "name": "NANCE-SWEENEY CHONDRODYSPLASIA", "description": "" }, { "id": "MONDO:0044206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044206", "name": "otospondylomegaepiphyseal dysplasia, autosomal recessive", "description": "" }, { "id": "MONDO:0044206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044206", "name": "otospondylomegaepiphyseal dysplasia, autosomal recessive", "description": "" }, { "id": "MONDO:0044206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044206", "name": "Nance-Insley syndrome", "description": "" }, { "id": "MONDO:0044206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044206", "name": "Nance-Sweeney chondrodysplasia", "description": "" }, { "id": "MONDO:0044206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044206", "name": "OSMED", "description": "" }, { "id": "MONDO:0044206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044206", "name": "OSMEDB", "description": "" }, { "id": "MONDO:0044206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044206", "name": "Weissenbacher-Zweymuller syndrome", "description": "" }, { "id": "MONDO:0044206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044206", "name": "Weissenbacher-Zweymuller syndrome, formerly", "description": "" }, { "id": "MONDO:0044206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044206", "name": "chondrodystrophy with sensorineural deafness", "description": "" }, { "id": "MIM:215150", "resource": "MIM", "url": "https://www.omim.org/entry/215150", "name": "Otospondylomegaepiphyseal dysplasia, autosomal recessive", "description": "Otospondylomegaepiphyseal dysplasia, autosomal recessive" } ], "evidence": [ { "id": "215150", "database": "MIM", "url": "https://www.omim.org/entry/215150" } ] }, { "disease_id": "DOID:0080673", "recommended_name": { "id": "DOID:0080673", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080673", "name": "fibrochondrogenesis 2", "description": "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3." }, "synonyms": [ { "id": "MONDO:0013795", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013795", "name": "fibrochondrogenesis 2", "description": "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene." }, { "id": "MONDO:0013795", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013795", "name": "COL11A2 fibrochondrogenesis", "description": "" }, { "id": "MONDO:0013795", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013795", "name": "fibrochondrogenesis 2", "description": "" }, { "id": "MONDO:0013795", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013795", "name": "fibrochondrogenesis caused by mutation in COL11A2", "description": "" }, { "id": "MONDO:0013795", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013795", "name": "fibrochondrogenesis type 2", "description": "" }, { "id": "MONDO:0013795", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013795", "name": "FBCG2", "description": "" }, { "id": "MIM:614524", "resource": "MIM", "url": "https://www.omim.org/entry/614524", "name": "Fibrochondrogenesis 2", "description": "Fibrochondrogenesis 2" } ], "evidence": [ { "id": "614524", "database": "MIM", "url": "https://www.omim.org/entry/614524" } ] }, { "disease_id": "DOID:0080677", "recommended_name": { "id": "DOID:0080677", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080677", "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant", "description": "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene." }, "synonyms": [ { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant", "description": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "COL11A2 Stickler syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "OSMED, heterozygous", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "OSMEDA", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Piere-Robin syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin malformation", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin sequence-fetal chondrodysplasia syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome-fetal chondrodysplasia syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "STICKLER syndrome, type III", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "STL3", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome caused by mutation in COL11A2", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome, non-ocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome, type 3", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome, type III, formerly", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "WZS", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Weissenbacher-Zweymuller syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "heterozygous OSMED", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "heterozygous otospondylomegaepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome nonocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome, Nonocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Weissenbacher- Zweymuller syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Weissenbacher-Zweymller syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant", "description": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "COL11A2 Stickler syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "OSMED, heterozygous", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "OSMEDA", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Piere-Robin syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin malformation", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin sequence-fetal chondrodysplasia syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Pierre Robin syndrome-fetal chondrodysplasia syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "STICKLER syndrome, type III", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "STL3", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome caused by mutation in COL11A2", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome, non-ocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome, type 3", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome, type III, formerly", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "WZS", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Weissenbacher-Zweymuller syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "heterozygous OSMED", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "heterozygous otospondylomegaepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome nonocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Stickler syndrome, Nonocular type", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Weissenbacher- Zweymuller syndrome", "description": "" }, { "id": "MONDO:0008490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008490", "name": "Weissenbacher-Zweymller syndrome", "description": "" }, { "id": "MIM:184840", "resource": "MIM", "url": "https://www.omim.org/entry/184840", "name": "Otospondylomegaepiphyseal dysplasia, autosomal dominant", "description": "Otospondylomegaepiphyseal dysplasia, autosomal dominant" } ], "evidence": [ { "id": "184840", "database": "MIM", "url": "https://www.omim.org/entry/184840" } ] }, { "disease_id": "DOID:0110509", "recommended_name": { "id": "DOID:0110509", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110509", "name": "autosomal recessive nonsyndromic deafness 53", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21." }, "synonyms": [ { "id": "DOID:0110509", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110509", "name": "DFNB53", "description": "" }, { "id": "DOID:0110509", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110509", "name": "autosomal recessive deafness 53", "description": "" }, { "id": "MONDO:0012333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012333", "name": "autosomal recessive nonsyndromic hearing loss 53", "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." }, { "id": "MONDO:0012333", 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P13942", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13942" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13942", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13942" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P13942", "url": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P13942", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P13942", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13942" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13942", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13942" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P13942", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13942" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P13942", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13942" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13942" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P13942", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13942" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"categories": [ "Protein Classification" ] }, { "id": "PTHR37456", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR37456", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR37456:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR37456:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01391", "url": "http://pfam.xfam.org/family/PF01391", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01410", "url": "http://pfam.xfam.org/family/PF01410", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02210", "url": "http://pfam.xfam.org/family/PF02210", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13942", "url": "https://pharos.nih.gov/targets/P13942", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P13942", "url": "http://purl.obolibrary.org/obo/PR_P13942", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8948216", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948216", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001157243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0C4DFS1", "url": "https://www.uniprot.org/uniprot/A0A0C4DFS1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DFS1-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DFS1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JHD9", "url": "https://www.uniprot.org/uniprot/A0A0G2JHD9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JHD9-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JHD9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JI07", "url": "https://www.uniprot.org/uniprot/A0A0G2JI07", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JI07-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JI07-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JL35", "url": "https://www.uniprot.org/uniprot/A0A0G2JL35", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JL35-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JL35-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JL78", "url": "https://www.uniprot.org/uniprot/A0A0G2JL78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JL78-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JL78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9A1", "url": "https://www.uniprot.org/uniprot/A0A140T9A1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9A1-1", "url": "https://www.uniprot.org/uniprot/A0A140T9A1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9I7", "url": "https://www.uniprot.org/uniprot/A0A140T9I7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9I7-1", "url": "https://www.uniprot.org/uniprot/A0A140T9I7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9N0", "url": "https://www.uniprot.org/uniprot/A0A140T9N0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9N0-1", "url": "https://www.uniprot.org/uniprot/A0A140T9N0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9N1", "url": "https://www.uniprot.org/uniprot/A0A140T9N1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9N1-1", "url": "https://www.uniprot.org/uniprot/A0A140T9N1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9W8", "url": "https://www.uniprot.org/uniprot/A0A140T9W8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9W8-1", "url": "https://www.uniprot.org/uniprot/A0A140T9W8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9X7", "url": "https://www.uniprot.org/uniprot/A0A140T9X7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9X7-1", "url": "https://www.uniprot.org/uniprot/A0A140T9X7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA43", "url": "https://www.uniprot.org/uniprot/A0A140TA43", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA43-1", "url": "https://www.uniprot.org/uniprot/A0A140TA43-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA54", "url": "https://www.uniprot.org/uniprot/A0A140TA54", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA54-1", "url": "https://www.uniprot.org/uniprot/A0A140TA54-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AAS7", "url": "https://www.uniprot.org/uniprot/A2AAS7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AAS7-1", "url": "https://www.uniprot.org/uniprot/A2AAS7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIS1", "url": "https://www.uniprot.org/uniprot/H0YIS1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIS1-1", "url": "https://www.uniprot.org/uniprot/H0YIS1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942", "url": "https://www.uniprot.org/uniprot/P13942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942-1", "url": "https://www.uniprot.org/uniprot/P13942-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942-2", "url": "https://www.uniprot.org/uniprot/P13942-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942-3", "url": "https://www.uniprot.org/uniprot/P13942-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942-4", "url": "https://www.uniprot.org/uniprot/P13942-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942-5", "url": "https://www.uniprot.org/uniprot/P13942-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942-6", "url": "https://www.uniprot.org/uniprot/P13942-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942-7", "url": "https://www.uniprot.org/uniprot/P13942-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942-8", "url": "https://www.uniprot.org/uniprot/P13942-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13942-9", "url": "https://www.uniprot.org/uniprot/P13942-9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4VXY6", "url": "https://www.uniprot.org/uniprot/Q4VXY6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4VXY6-1", "url": "https://www.uniprot.org/uniprot/Q4VXY6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1736, "header": "sp|P13942-1|COBA2_HUMAN Isoform 1 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DFS1-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1736, "header": "tr|A0A0C4DFS1-1|COBA2_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "6", "start_pos": 33192240, "end_pos": 33163681, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341947.7", "url": "https://www.ensembl.org/id/ENST00000341947.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000339915.2", "url": "https://www.ensembl.org/id/ENSP00000339915.2" } ] } }, { "isoform_ac": "A0A0G2JHD9-1", "url": "", "sequence": { "sequence": "XNQSPQAHRSTVPHTAGLGQLCLLGFGMDWRASEAWMVPRAPKGAWDPRESQDLLDNRAPLGPRVFPGPRVPSALMERRVLKGSQGSPACLGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 333, "header": "tr|A0A0G2JHD9-1|A0A0G2JHD9_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_QBL_CTG1", "start_pos": 4372297, "end_pos": 4358084, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433947.5", "url": "https://www.ensembl.org/id/ENST00000433947.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388108.1", "url": "https://www.ensembl.org/id/ENSP00000388108.1" } ] } }, { "isoform_ac": "A0A0G2JI07-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYKPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPP", "length": 624, "header": "tr|A0A0G2JI07-1|A0A0G2JI07_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_MCF_CTG1", "start_pos": 4628196, "end_pos": 4614089, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452730.5", "url": "https://www.ensembl.org/id/ENST00000452730.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388775.1", "url": "https://www.ensembl.org/id/ENSP00000388775.1" } ] } }, { "isoform_ac": "A0A0G2JL35-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYKPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1736, "header": "tr|A0A0G2JL35-1|COBA2_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_QBL_CTG1", "start_pos": 4386643, "end_pos": 4358085, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549836.5", "url": "https://www.ensembl.org/id/ENST00000549836.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448701.1", "url": "https://www.ensembl.org/id/ENSP00000448701.1" } ] } }, { "isoform_ac": "A0A0G2JL78-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1629, "header": "tr|A0A0G2JL78-1|A0A0G2JL78_HUMAN Computationally mapped isoform of Collagen, type XI, alpha 2, isoform CRA_c OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_MCF_CTG1", "start_pos": 4628196, "end_pos": 4599639, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552473.4", "url": "https://www.ensembl.org/id/ENST00000552473.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000446870.1", "url": "https://www.ensembl.org/id/ENSP00000446870.1" } ] } }, { "isoform_ac": "A0A140T9A1-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGPPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQVRELGEPPSAAHPREGRHPGISPP", "length": 290, "header": "tr|A0A140T9A1-1|COBA2_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 4611712, "end_pos": 4606027, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435763.6", "url": "https://www.ensembl.org/id/ENST00000435763.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000396587.2", "url": "https://www.ensembl.org/id/ENSP00000396587.2" } ] } }, { "isoform_ac": "A0A140T9I7-1", "url": "", "sequence": { "sequence": "XAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQDPTPGEEEEILESSLLPPLEEAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1623, "header": "tr|A0A140T9I7-1|A0A140T9I7_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 4638113, "end_pos": 4612326, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443138.5", "url": "https://www.ensembl.org/id/ENST00000443138.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404513.1", "url": "https://www.ensembl.org/id/ENSP00000404513.1" } ] } }, { "isoform_ac": "A0A140T9N0-1", "url": "", "sequence": { "sequence": "XAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQVRELGEPPSAAHPREGRHPGISPP", "length": 263, "header": "tr|A0A140T9N0-1|A0A140T9N0_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 4638113, "end_pos": 4635198, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434780.1", "url": "https://www.ensembl.org/id/ENST00000434780.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000408523.1", "url": "https://www.ensembl.org/id/ENSP00000408523.1" } ] } }, { "isoform_ac": "A0A140T9N1-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGPPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQDPTPGEEEEILESSLLPPLEEAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1650, "header": "tr|A0A140T9N1-1|A0A140T9N1_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 4611712, "end_pos": 4583154, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425729.5", "url": "https://www.ensembl.org/id/ENST00000425729.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408123.1", "url": "https://www.ensembl.org/id/ENSP00000408123.1" } ] } }, { "isoform_ac": "A0A140T9W8-1", "url": "", "sequence": { "sequence": "XAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYKPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPP", "length": 597, "header": "tr|A0A140T9W8-1|A0A140T9W8_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 4638113, "end_pos": 4626777, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447855.5", "url": "https://www.ensembl.org/id/ENST00000447855.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415296.1", "url": "https://www.ensembl.org/id/ENSP00000415296.1" } ] } }, { "isoform_ac": "A0A140T9X7-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGPPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYKPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPP", "length": 624, "header": "tr|A0A140T9X7-1|A0A140T9X7_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 4611712, "end_pos": 4597605, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452044.5", "url": "https://www.ensembl.org/id/ENST00000452044.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000416619.1", "url": "https://www.ensembl.org/id/ENSP00000416619.1" } ] } }, { "isoform_ac": "A0A140TA43-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGPPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYKPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1736, "header": "tr|A0A140TA43-1|COBA2_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 4611712, "end_pos": 4583154, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551413.1", "url": "https://www.ensembl.org/id/ENST00000551413.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000448715.1", "url": "https://www.ensembl.org/id/ENSP00000448715.1" } ] } }, { "isoform_ac": "A0A140TA54-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGPPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1629, "header": "tr|A0A140TA54-1|A0A140TA54_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 4611712, "end_pos": 4583154, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552134.5", "url": "https://www.ensembl.org/id/ENST00000552134.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449320.1", "url": "https://www.ensembl.org/id/ENSP00000449320.1" } ] } }, { "isoform_ac": "A2AAS7-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPP", "length": 624, "header": "tr|A2AAS7-1|A2AAS7_HUMAN Computationally mapped isoform of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_DBB_CTG1", "start_pos": 4435739, "end_pos": 4421631, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438711.5", "url": "https://www.ensembl.org/id/ENST00000438711.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398256.1", "url": "https://www.ensembl.org/id/ENSP00000398256.1" } ] } }, { "isoform_ac": "H0YIS1-1", "url": "", "sequence": { "sequence": "XGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRG", "length": 435, "header": "tr|H0YIS1-1|H0YIS1_HUMAN Computationally mapped isoform of Collagen type XI alpha 2 chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=4 SV=2 CANONICAL=P13942-1" }, "locus": { "chromosome": "6", "start_pos": 33179791, "end_pos": 33173353, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361917.6", "url": "https://www.ensembl.org/id/ENST00000361917.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000355123.2", "url": "https://www.ensembl.org/id/ENSP00000355123.2" } ] } }, { "isoform_ac": "P13942-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1736, "header": "sp|P13942-1|COBA2_HUMAN Isoform 1 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_COX_CTG1", "start_pos": 4603747, "end_pos": 4575189, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549811.3", "url": "https://www.ensembl.org/id/ENST00000549811.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000449275.1", "url": "https://www.ensembl.org/id/ENSP00000449275.1" } ] } }, { "isoform_ac": "P13942-2", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1710, "header": "sp|P13942-2|COBA2_HUMAN Isoform 2 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "locus": {} }, { "isoform_ac": "P13942-3", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1715, "header": "sp|P13942-3|COBA2_HUMAN Isoform 3 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "locus": {} }, { "isoform_ac": "P13942-4", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1676, "header": "sp|P13942-4|COBA2_HUMAN Isoform 4 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "locus": {} }, { "isoform_ac": "P13942-5", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1689, "header": "sp|P13942-5|COBA2_HUMAN Isoform 5 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "locus": {} }, { "isoform_ac": "P13942-6", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQDPTPGEEEEILESSLLPPLEEAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1650, "header": "sp|P13942-6|COBA2_HUMAN Isoform 6 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_COX_CTG1", "start_pos": 4603747, "end_pos": 4575189, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383087.6", "url": "https://www.ensembl.org/id/ENST00000383087.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000372565.2", "url": "https://www.ensembl.org/id/ENSP00000372565.2" } ] } }, { "isoform_ac": "P13942-7", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1655, "header": "sp|P13942-7|COBA2_HUMAN Isoform 7 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "locus": {} }, { "isoform_ac": "P13942-8", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1629, "header": "sp|P13942-8|COBA2_HUMAN Isoform 8 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_COX_CTG1", "start_pos": 4603747, "end_pos": 4575189, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551542.3", "url": "https://www.ensembl.org/id/ENST00000551542.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000447864.1", "url": "https://www.ensembl.org/id/ENSP00000447864.1" } ] } }, { "isoform_ac": "P13942-9", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQVRELGEPPSAAHPREGRHPGISPP", "length": 290, "header": "sp|P13942-9|COBA2_HUMAN Isoform 9 of Collagen alpha-2(XI) chain OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=5 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_QBL_CTG1", "start_pos": 4386643, "end_pos": 4380958, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383088.8", "url": "https://www.ensembl.org/id/ENST00000383088.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000372566.4", "url": "https://www.ensembl.org/id/ENSP00000372566.4" } ] } }, { "isoform_ac": "Q4VXY6-1", "url": "", "sequence": { "sequence": "MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQDPTPGEEEEILESSLLPPLEEAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG", "length": 1650, "header": "tr|Q4VXY6-1|Q4VXY6_HUMAN Computationally mapped isoform of Collagen type XI alpha 2 OS=Homo sapiens OX=9606 GN=COL11A2 PE=1 SV=1 CANONICAL=P13942-1" }, "locus": { "chromosome": "HSCHR6_MHC_MCF_CTG1", "start_pos": 4628196, "end_pos": 4599639, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447349.5", "url": "https://www.ensembl.org/id/ENST00000447349.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388309.1", "url": "https://www.ensembl.org/id/ENSP00000388309.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1546, "start_aa": "Ser", "end_pos": 1546, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1546", "evidence": [ { "id": "P13942", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13942" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1549, "start_aa": "Ser", "end_pos": 1549, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1549", "evidence": [ { "id": "P13942", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13942" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1604, "start_aa": "Asn", "end_pos": 1604, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1604", "evidence": [ { "id": "P13942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13942#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Ramchandran R, Dhanabal M, Volk R, Waterman MJ, Segal M, Lu H, Knebelmann B, Sukhatme VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "10049780", "url": "https://glygen.org/publication/PubMed/10049780" } ] }, { "title": "Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis.", "journal": "Developmental biology", "date": "1999", "authors": "Scott IC, Blitz IL, Pappano WN, Imamura Y, Clark TG, Steiglitz BM, Thomas CL, Maas SA, Takahara K, Cho KW, Greenspan DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "10479448", "url": "https://glygen.org/publication/PubMed/10479448" } ] }, { "title": "HGF induces FAK activation and integrin-mediated adhesion in MTLn3 breast carcinoma cells.", "journal": "International journal of cancer", "date": "1999", "authors": "Beviglia L, Kramer RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081" } ], "reference": [ { "type": "PubMed", "id": "10521801", "url": "https://glygen.org/publication/PubMed/10521801" } ] }, { "title": "Catalytic activities and substrate specificity of the human membrane type 4 matrix metalloproteinase catalytic domain.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Wang Y, Johnson AR, Ye QZ, Dyer RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "10551873", "url": "https://glygen.org/publication/PubMed/10551873" } ] }, { "title": "Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).", "journal": "Nature genetics", "date": "1999", "authors": "McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ", "evidence": [ { "database": "UniProtKB", "id": "P13942", "url": "https://www.uniprot.org/uniprot/P13942" } ], "reference": [ { "type": "PubMed", "id": "10581026", "url": "https://glygen.org/publication/PubMed/10581026" } ] }, { "title": "Growth of collagen fibrils produced by human osteosarcoma cells: high-resolution scanning electron microscopy.", "journal": "Archives of histology and cytology", "date": "1999", "authors": "Hashizume H, Hitomi J, Ushiki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "10596943", "url": "https://glygen.org/publication/PubMed/10596943" } ] }, { "title": "Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.", "journal": "Am. J. Hum. Genet.", "date": "2000", "authors": "Melkoniemi M, Brunner H G, Manouvrier S, Hennekam R, Superti-Furga A, K\u00e4\u00e4ri\u00e4inen H, Pauli R M, van Essen T, Warman M L, Bonaventure J, Miny P, Ala-Kokko L", "evidence": [ { "database": "UniProtKB", "id": "P13942", "url": "https://www.uniprot.org/uniprot/P13942" } ], "reference": [ { "type": "PubMed", "id": "10677296", "url": "https://glygen.org/publication/PubMed/10677296" } ] }, { "title": "Biochemical characterization of the catalytic domain of human matrix metalloproteinase 19. Evidence for a role as a potent basement membrane degrading enzyme.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Stracke JO, Hutton M, Stewart M, Pendas AM, Smith B, Lopez-Otin C, Murphy G, Knauper V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "10809722", "url": "https://glygen.org/publication/PubMed/10809722" } ] }, { "title": "Lysyl hydroxylase 3 is a multifunctional protein possessing collagen glucosyltransferase activity.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Heikkinen J, Risteli M, Wang C, Latvala J, Rossi M, Valtavaara M, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "10934207", "url": "https://glygen.org/publication/PubMed/10934207" } ] }, { "title": "Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Sasaki T, Larsson H, Tisi D, Claesson-Welsh L, Hohenester E, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "10966814", "url": "https://glygen.org/publication/PubMed/10966814" } ] }, { "title": "A short sequence in the N-terminal region is required for the trimerization of type XIII collagen and is conserved in other collagenous transmembrane proteins.", "journal": "The EMBO journal", "date": "2000", "authors": "Snellman A, Tu H, Vaisanen T, Kvist AP, Huhtala P, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11013208", "url": "https://glygen.org/publication/PubMed/11013208" } ] }, { "title": "Generation and degradation of human endostatin proteins by various proteinases.", "journal": "FEBS letters", "date": "2000", "authors": "Ferreras M, Felbor U, Lenhard T, Olsen BR, Delaisse J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11119712", "url": "https://glygen.org/publication/PubMed/11119712" } ] }, { "title": "Calprotectin inhibits matrix metalloproteinases by sequestration of zinc.", "journal": "Molecular pathology : MP", "date": "2001", "authors": "Isaksen B, Fagerhol MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11577169", "url": "https://glygen.org/publication/PubMed/11577169" } ] }, { "title": "Not all 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"https://glygen.org/publication/PubMed/11927537" } ] }, { "title": "Structural basis of type VI collagen dimer formation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ball S, Bella J, Kielty C, Shuttleworth A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12473679", "url": "https://glygen.org/publication/PubMed/12473679" } ] }, { "title": "The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2002", "authors": "Wang C, Luosujarvi H, Heikkinen J, Risteli M, Uitto L, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12475640", "url": "https://glygen.org/publication/PubMed/12475640" } ] }, { "title": "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.", "journal": "Journal of cell science", "date": "2003", "authors": "Koster J, Geerts D, Favre B, Borradori L, Sonnenberg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "12482924", "url": "https://glygen.org/publication/PubMed/12482924" } ] }, { "title": "Loss of types XV and XIX collagen precedes basement membrane invasion in ductal carcinoma of the female breast.", "journal": "The Journal of pathology", "date": "2003", "authors": "Amenta PS, Hadad S, Lee MT, Barnard N, Li D, Myers JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "12579531", "url": "https://glygen.org/publication/PubMed/12579531" } ] }, { "title": "Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12646579", "url": "https://glygen.org/publication/PubMed/12646579" } ] }, { "title": "Characterization of the human prolyl 4-hydroxylase tetramer and its multifunctional protein disulfide-isomerase subunit synthesized in a baculovirus expression system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Vuori K, Pihlajaniemi T, Marttila M, Kivirikko KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "1323838", "url": "https://glygen.org/publication/PubMed/1323838" } ] }, { "title": "Characterization of collagen types XII and XIV from fetal bovine cartilage.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Watt SL, Lunstrum GP, McDonough AM, Keene DR, Burgeson RE, Morris NP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "1400327", "url": "https://glygen.org/publication/PubMed/1400327" } ] }, { "title": "Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Kukkola L, Hieta R, Kivirikko KI, Myllyharju J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "14500733", "url": "https://glygen.org/publication/PubMed/14500733" } ] }, { "title": "Covalent cross-linking of the NC1 domain of collagen type IX to collagen type II in cartilage.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Eyre DR, Pietka T, Weis MA, Wu JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "14602708", "url": "https://glygen.org/publication/PubMed/14602708" } ] }, { "title": "The shed ectodomain of type XIII collagen affects cell behaviour in a matrix-dependent manner.", "journal": "The Biochemical journal", "date": "2004", "authors": "Vaisanen MR, Vaisanen T, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "15005656", "url": "https://glygen.org/publication/PubMed/15005656" } ] }, { "title": "Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Vranka JA, Sakai LY, Bachinger HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "15044469", "url": "https://glygen.org/publication/PubMed/15044469" } ] }, { "title": "Collagenase unwinds triple-helical collagen prior to peptide bond hydrolysis.", "journal": "The EMBO journal", "date": "2004", "authors": "Chung L, Dinakarpandian D, Yoshida N, Lauer-Fields JL, Fields GB, Visse R, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "15257288", "url": "https://glygen.org/publication/PubMed/15257288" } ] }, { "title": "CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.", "journal": "Blood", "date": "2004", "authors": "Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "15265795", "url": "https://glygen.org/publication/PubMed/15265795" } ] }, { "title": "Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3----p36.2.", "journal": "Genomics", "date": "1992", "authors": "Hautala T, Byers MG, Eddy RL, Shows TB, Kivirikko KI, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "1577494", 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"title": "Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.", "journal": "Journal of medical genetics", "date": "2005", "authors": "Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ", "evidence": [ { "database": "UniProtKB", "id": "P13942", "url": "https://www.uniprot.org/uniprot/P13942" } ], "reference": [ { "type": "PubMed", "id": "16033917", "url": "https://glygen.org/publication/PubMed/16033917" } ] }, { "title": "Enzymatic hydroxylation of proline and lysine in protocollagen.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1967", "authors": "Kivirikko KI, Prockop DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "16591531", "url": "https://glygen.org/publication/PubMed/16591531" } ] }, { "title": "Direct interaction of focal 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