{ "uniprot_canonical_ac": "P07510-1", "uniprot_ac": "P07510", "uniprot_id": "ACHG_HUMAN", "mass": { "chemical_mass": 57883.0, "monoisotopic_mass": 57883.0 }, "refseq": { "ac": "NP_005190", "name": "acetylcholine receptor subunit gamma precursor", "summary": "The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190" }, "gene_names": [ { "name": "CHRNG", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07510", "id": "P07510" }, { "name": "ACHRG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190", "id": "NP_005190" }, { "name": "ACHRG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07510", "id": "P07510" }, { "name": "CHRNG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190", "id": "NP_005190" } ], "protein_names": [ { "name": "Acetylcholine receptor subunit gamma", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07510" }, { "name": "acetylcholine receptor subunit gamma precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190", "id": "NP_005190" }, { "name": "cholinergic receptor, nicotinic, gamma polypeptide; acetylcholine receptor subunit gamma; acetylcholine receptor, muscle, gamma subunit; acetylcholine receptor, nicotinic, gamma (muscle); cholinergic receptor, nicotinic, gamma (muscle); cholinergic receptor, nicotinic gamma", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190", "id": "NP_005190" } ], "function": [ { "annotation": "A homozygous nonsense CHRNG variant c.136C>T (p.R46*), predicted to produce a truncated protein that leads to acetylcholine receptor deficiency was detected in a consanguineous Pakistani family with Escobar syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_005190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190" }, { "database": "PubMed", "id": "30461311", "url": "https://glygen.org/publication/PubMed/30461311" } ] }, { "annotation": "After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "P07510", "url": "https://www.uniprot.org/uniprot/P07510#function" } ] }, { "annotation": "CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190" }, { "database": "PubMed", "id": "27245440", "url": "https://glygen.org/publication/PubMed/27245440" } ] }, { "annotation": "Our study contributes to further define the phenotypic spectrum of CHRNG-related nonlethal MPS, including muscle imaging features, which may be useful in distinguishing it from other diffuse arthrogryposis entities. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_005190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190" }, { "database": "PubMed", "id": "30868735", "url": "https://glygen.org/publication/PubMed/30868735" } ] }, { "annotation": "The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_005190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190" } ] } ], "disease": [ { "disease_id": "DOID:0080110", "recommended_name": { "id": "DOID:0080110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080110", "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome", "description": "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits." }, "synonyms": [ { "id": "DOID:0080110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080110", "name": "multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "autosomal recessive multiple pterygium syndrome", "description": "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "EVMPS", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "Escobar syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "Escobar variant multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "autosomal recessive multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "autosomal recessive non-lethal multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome, autosomal recessive", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome Escobar type", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome nonlethal type", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome, ESCOBAR variant", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome, Nonlethal type", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "pterygium Universale", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "pterygium colli syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "pterygium universale", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "X-linked lethal multiple pterygium syndrome", "description": "X-linked form of lethal multiple pterygium syndrome." }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "lethal multiple pterygium syndrome, X-linked", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "multiple pterygium syndrome X-linked", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "multiple pterygium syndrome, X-linked", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "pterygium syndrome multiple X-linked", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "pterygium syndrome, multiple, X-linked", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "lethal multiple pterygium syndrome", "description": "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "LMPS", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "autosomal recessive lethal multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "lethal multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "multiple pterygium syndrome lethal type", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "multiple pterygium syndrome, lethal type", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "pterygium syndrome multiple lethal type", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "pterygium syndrome, multiple, lethal type", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "distal arthrogryposis type 8", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "multiple pterygium syndrome, autosomal dominant", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "DA8", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "arthrogryposis, distal, type 8", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "pterygium syndrome, multiple, autosomal dominant", "description": "" }, { "id": "MIM:265000", "resource": "MIM", "url": "https://www.omim.org/entry/265000", "name": "Multiple pterygium syndrome, Escobar variant", "description": "Multiple pterygium syndrome, Escobar variant" }, { "id": "MIM:253290", "resource": "MIM", "url": "https://www.omim.org/entry/253290", "name": "Multiple pterygium syndrome, lethal type", "description": "Multiple pterygium syndrome, lethal type" }, { "id": "MIM:178110", "resource": "MIM", "url": "https://www.omim.org/entry/178110", "name": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A", "description": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A" } ], "evidence": [ { "id": "253290", "database": "MIM", "url": "https://www.omim.org/entry/253290" }, { "id": "265000", "database": "MIM", "url": "https://www.omim.org/entry/265000" } ] } ], "snv": [ { "evidence": [ { "id": "rs766623295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766623295" }, { "id": "rs766623295", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766623295" }, { "id": "rs766623295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766623295#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 165, "end_pos": 165, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCF).", "chr_id": "2", "chr_pos": "232541517", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766193925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766193925" }, { "id": "rs766193925", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs766193925" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 178, "end_pos": 178, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEI->NET).", "chr_id": "2", "chr_pos": "232542449", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778517594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778517594" }, { "id": "rs778517594", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778517594" }, { "id": "rs778517594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778517594" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 255, "end_pos": 255, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "2", "chr_pos": "232543041", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I255", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139108448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139108448" }, { "id": "rs139108448", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139108448" }, { "id": "rs139108448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139108448" }, { "id": "rs139108448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139108448#frequency_tab" }, { "id": "rs139108448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139108448" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 448, "end_pos": 448, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "2", "chr_pos": "232544865", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "I448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332073594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332073594" }, { "id": "rs1332073594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1332073594#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 52, "end_pos": 52, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->DVS).", "chr_id": "2", "chr_pos": "232540090", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N52", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373024081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373024081" }, { "id": "rs373024081", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373024081" }, { "id": "rs373024081", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373024081" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 52, "end_pos": 52, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "2", "chr_pos": "232540091", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N52", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332073594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332073594" }, { "id": "rs1332073594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1332073594#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 52, "end_pos": 52, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->YVS).", "chr_id": "2", "chr_pos": "232540090", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N52", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "49.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "62.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "64.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "47.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "39.08", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "59.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "40.5", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "42.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "59.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "45.63", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "42.72", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "44.11", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196811" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07510", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07510" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": 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"" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": 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"" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"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": 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"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", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "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": "P07510", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07510" } ], "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": 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"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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07510", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07510" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07510" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P07510", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07510" } ], "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", 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(CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.", "journal": "American journal of human genetics", "date": "2006", "authors": "Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER", "evidence": [ { "database": "UniProtKB", "id": "P07510", "url": "https://www.uniprot.org/uniprot/P07510" } ], "reference": [ { "type": "PubMed", "id": "16826531", "url": "https://glygen.org/publication/PubMed/16826531" } ] }, { "title": "Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties.", "journal": "Biochimica et biophysica acta", "date": "2009", "authors": "Zouridakis M, Zisimopoulou P, Eliopoulos E, Poulas K, Tzartos SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-629587", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-629587" } ], "reference": [ { "type": "PubMed", "id": "19059502", "url": "https://glygen.org/publication/PubMed/19059502" } ] }, { "title": "Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.", "journal": "BMC genetics", "date": "2016", "authors": "Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi AR, Tajsharghi H", "evidence": [ { "database": "RefSeq", "id": "NP_005190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190" } ], "reference": [ { "type": "PubMed", "id": "27245440", "url": "https://glygen.org/publication/PubMed/27245440" } ] }, { "title": "Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.", "journal": "Genetic testing and molecular biomarkers", "date": "2018", "authors": "Sher G, Naeem M", "evidence": [ { "database": "RefSeq", "id": "NP_005190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005190" } ], "reference": [ { "type": "PubMed", "id": "30461311", "url": "https://glygen.org/publication/PubMed/30461311" } ] }, { "title": "CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.", "journal": "American journal of medical genetics. 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Biochem.", "date": "1985", "authors": "Shibahara S, Kubo T, Perski HJ, Takahashi H, Noda M, Numa S", "evidence": [ { "database": "UniProtKB", "id": "P07510", "url": "https://www.uniprot.org/uniprot/P07510" } ], "reference": [ { "type": "PubMed", "id": "3967651", "url": "https://glygen.org/publication/PubMed/3967651" } ] }, { "title": "Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits.", "journal": "Eur. J. 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