{ "uniprot_canonical_ac": "P0C091-1", "uniprot_ac": "P0C091", "uniprot_id": "FREM3_HUMAN", "mass": { "chemical_mass": 238179.0, "monoisotopic_mass": 238179.0 }, "refseq": { "ac": "NP_001161707", "name": "FRAS1-related extracellular matrix protein 3 precursor", "summary": "This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161707" }, "gene_names": [ { "name": "FREM3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C091", "id": "P0C091" }, { "name": "FREM3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161707", "id": "NP_001161707" } ], "protein_names": [ { "name": "FRAS1-related extracellular matrix protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0C091" }, { "name": "FRAS1-related extracellular matrix protein 3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161707", "id": "NP_001161707" }, { "name": "FRAS1-related extracellular matrix protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161707", "id": "NP_001161707" } ], "function": [ { "annotation": "Extracellular matrix protein which may play a role in cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091#function" } ] }, { "annotation": "The combined effect of the EHD3 and FREM3 genes may play an important role in developing major depressive disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_001161707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161707" }, { "database": "PubMed", "id": "22337703", "url": "https://glygen.org/publication/PubMed/22337703" } ] }, { "annotation": "This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001161707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161707" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1342650512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342650512" }, { "id": "rs1342650512", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342650512" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1088, "end_pos": 1088, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSL->NSS).", "chr_id": "4", "chr_pos": "143697413", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1088", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1215506164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215506164" }, { "id": "rs1215506164", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1215506164#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1219, "end_pos": 1219, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "4", "chr_pos": "143697021", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1389861559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389861559" }, { "id": "rs1389861559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1389861559#frequency_tab" }, { "id": "rs1389861559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389861559" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1271, "end_pos": 1271, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "4", "chr_pos": "143696865", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1378563317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378563317" }, { "id": "rs1378563317", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378563317" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1368, "end_pos": 1368, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "4", "chr_pos": "143696573", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1368", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867300897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867300897" }, { "id": "rs867300897", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867300897" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1376, "end_pos": 1376, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFI).", "chr_id": "4", "chr_pos": "143696549", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1376", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs936660709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936660709" }, { "id": "rs936660709", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs936660709" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1409, "end_pos": 1409, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT).", "chr_id": "4", "chr_pos": "143696450", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393960312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393960312" }, { "id": "rs1393960312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393960312" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1463, "end_pos": 1463, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIT->NIT).", "chr_id": "4", "chr_pos": "143696288", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1560879530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560879530" }, { "id": "rs1560879530", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1560879530" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 149, "end_pos": 149, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (THT->NHT).", "chr_id": "4", "chr_pos": "143700230", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs112033334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112033334" }, { "id": "rs112033334", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs112033334#frequency_tab" }, { "id": "rs112033334", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs112033334" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1500, "end_pos": 1500, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HTS->NTS).", "chr_id": "4", "chr_pos": "143696178", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P0C091", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0C091" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1539, "end_pos": 1539, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "4", "chr_pos": "143696060", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I1539", "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 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"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": 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"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 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"Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SDT->NDT).", "chr_id": "4", "chr_pos": "143695982", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1565", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1001121635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001121635" }, { "id": "rs1001121635", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1001121635" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1588, "end_pos": 1588, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->HGS).", "chr_id": "4", "chr_pos": "143695914", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1588", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1560876205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560876205" }, { "id": "rs1560876205", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1560876205" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1590, "end_pos": 1590, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGG).", "chr_id": "4", "chr_pos": "143695908", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1590", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775326377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775326377" }, { "id": "rs775326377", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775326377" }, { "id": "rs775326377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775326377" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1604, "end_pos": 1604, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKN->NKT).", "chr_id": "4", "chr_pos": "143695865", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1604", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1313731463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1313731463" }, { "id": "rs1313731463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1313731463" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1683, "end_pos": 1683, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ITS->NTS).", "chr_id": "4", "chr_pos": "143695628", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1683", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1181766773", "database": "dbSNP", "url": 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"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", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "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": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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", "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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P0C091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C091" } ], "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P0C091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C091" } ], "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": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "common_name": "Human" } ], "gene": [ { "name": "FREM3", "url": "https://www.uniprot.org/uniprot/P0C091", "locus": { "chromosome": "4", "start_pos": 143577302, "end_pos": 143700675, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000183090", "url": "https://www.ensembl.org/id/ENSG00000183090" } ] } } ], "crossref": [ { "id": "ENSG00000183090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183090", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P0C091", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0C091", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "FREM3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FREM3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "166752", "url": "https://www.ncbi.nlm.nih.gov/gene/166752", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "25172", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=25172", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P0C091", "url": "https://www.ebi.ac.uk/intact/interactors/id:P0C091*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003644", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003644", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038081", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038081", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039005", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039005", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045658", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045658", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "608946", "url": "http://www.omim.org/entry/608946", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P0C091", "url": "https://www.nextprot.org/entry/NX_P0C091", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "ATKDIFY", "url": "https://omabrowser.org/oma/group/ATKDIFY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4072625at2759", "url": "http://www.orthodb.org/?query=4072625at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45739", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45739", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45739:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45739:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03160", "url": "http://pfam.xfam.org/family/PF03160", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16184", "url": "http://pfam.xfam.org/family/PF16184", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19309", "url": "http://pfam.xfam.org/family/PF19309", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P0C091", "url": "https://pharos.nih.gov/targets/P0C091", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P0C091", "url": "http://purl.obolibrary.org/obo/PR_P0C091", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001161707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161707", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0C091-1", "url": "https://www.uniprot.org/uniprot/P0C091-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAGASRHPTGTPRQLLVALACLLLSRPALQGRASSLGTEPDPALYLPARGALDGTRPDGPSVLIANPGLRVPLGRSLWLDPLRDLVIGVQPGDRCEVTVLDALPRLKGALSPRRFPCTFGPRQVQYTHFGSHSPGRARVLLQLRYDAPTHTLVLPFTLAVDLVFSQLELVTRNRPLVVEKLRSWSRAIDRRVLDFASLKSGATATRRCRLTPLPHEDGPLPKYGRLVDAVGAPLPRGKGVDCEAFLRAGVRYQHTATSSPNRDYVPMMVELLGPEGQDAGSAGVLVREHFQLLVRIRGGAENTPPRPSFMATMMMEVDPLVLTALTPDALAAEDVESDPGDLVFNILNAPTHPPGHPGQQGYVVSTDDPLGLPVSFFTQQELRELKIAYQPPAENSHGERLFQLELEVVDGDGAASDPFAFMVTVKSMNTLVPVASHNRGLVLFEGQSRPLSSTHSIPISDKDNLEEVKMAAVRGLRHGQLVVFGAPAGCKYFTPADLAAGRVVYQHDGSNTYSDNIIFRMEDGHHQVDFLFPLTILPVDDEPPMVNTNTGLSLTEGQVVQISPFVLSATDIDSEDSTIHFVLENQPLKGNEEEPQWELAPGSSHSGHYLGDLLLQQAELPLSTEDEDWHYMEKEGLYEKVVTEWLQRDIMEGRLFYRHLGPHSPQSVMVQLAFHVQDDHDPPNLSKQHIFTIKVQPVDILSPQLYPGTTLEMTVQEYQLTHFQKNFLRYIDQDSDDQNLWYTLLTLPTDTDGNHQVRAGEIVLTDSPDTLIMHFTQAQVNQHKVAYQPPQKLGIAPRVVQFTYQVEDAAGNSVPGTFTLFLQPVDNQPPEVTNRGFAILEGGSFNLSSNELHVTDPDTDIDQIVFILVRGPQHGHLQYFKRCMVPGESFMQADVINGSVSYQHGRDQTTTSDTFHLEVSDGVHHIPITIPISVHPNVANRSPRISLRSSSLLDVSIDVLENKATEITMGVIHGKRKDVGDLMLSFIVKDSPKLGTILVNGLPTERFTQEDLINGRVAYAHTAGEVGFQKQHDAFSLILSKDSYQWVVGNSIIEKVQVQVTVLPVDNVGPKVFVGESFIVYEGEKNSLTLQHLHVEDVDTHQDELLCTVTSQPASGYLEKIASAPGSKMSQSGSPISAFSLRDIQVRHINYVQSIHKGVEPQEDQFTFYCSDGINFSPNVFFPIIILPTNDEQPKLFAHEFKVLEGMSLVIDTQLLNGADADLPPNELHFQLTALPRHGRIIQQLATGSQPIHSFTLKEIQEASTIVYEHDDSETKEDSFEVWLSDGKHTTHRKVPIVVTLVDDETPHLTVNNGLKVEKGHSEIITNRILKATDLDSDDKSLSFVLHSGPQQGLLQRLRKPRGEVRNNLTLGMNFTQDEINRGLICYIHTGQEGIVDIIKFDVTDGVNTLTDHYFYVTIGNLDSVFPEVISKRITLIEGARVTLTNNLLTNSDINSSDEHHFSITRAPSLGHLESSDYAGEPIASFTQLQLASNKISYVHTSNDEKKMDSFEFQVIGELYPVFRTFRIFITDVDNKKPILTIHRLTLQKEDSQLITLLELTVEDSDTPDDLILFTITQVPMHGKILYNGSRPVTTFTKQDLNKNLISYKHDGSETTEDSFSLTVTDGTHTDFYVLPDTALATHKPQVMRVQIRSLDNRLPQITTNRGAPALKRLHTGHMGFLITSKSLKAEDQDSPHRLLKYKVTRGPEHGFIIKTGLGNQSTRVFTQADIDEMKISYVLNEGSNASKDIFYFSVEDNGGNKLTNQPFHLNWAWICLEKEYYIVDEDSTFLEVTLTRRGYLGETSFISIGTKDETAKKDKDFKWKTNKQIQFNPGQTTATWRVRIIPDNEYETSETFQIILSEPLMAVLEFPEMATVEIVDPGDESTVYIPEAEYKIEEDIGELLIPVRRSGDASQELIVICSTRQGSATGTISSTVLFSDYISRPEDHTSILHFDKNETQKTCQVLIIDDSLYEEEESFSVSLRLPVGGQLGARFPTTKVTILADRYDEPVLHFGDAEYHVNESARYVEVCVWRRGTDLSQPSSIAVRSRKSEQESAEAGTDYVGISRNLDFAPGVRMQTFQVTILDDLGQPTLEGPEKFELLLQMPMGAVLGEPNKTTIFIEDTITDCKQSACSSFD", "length": 2139, "header": "sp|P0C091-1|FREM3_HUMAN Isoform 1 of FRAS1-related extracellular matrix protein 3 OS=Homo sapiens OX=9606 GN=FREM3 PE=3 SV=2 CANONICAL=P0C091-1" }, "isoforms": [ { "isoform_ac": "P0C091-1", "url": "", "sequence": { "sequence": "MAGASRHPTGTPRQLLVALACLLLSRPALQGRASSLGTEPDPALYLPARGALDGTRPDGPSVLIANPGLRVPLGRSLWLDPLRDLVIGVQPGDRCEVTVLDALPRLKGALSPRRFPCTFGPRQVQYTHFGSHSPGRARVLLQLRYDAPTHTLVLPFTLAVDLVFSQLELVTRNRPLVVEKLRSWSRAIDRRVLDFASLKSGATATRRCRLTPLPHEDGPLPKYGRLVDAVGAPLPRGKGVDCEAFLRAGVRYQHTATSSPNRDYVPMMVELLGPEGQDAGSAGVLVREHFQLLVRIRGGAENTPPRPSFMATMMMEVDPLVLTALTPDALAAEDVESDPGDLVFNILNAPTHPPGHPGQQGYVVSTDDPLGLPVSFFTQQELRELKIAYQPPAENSHGERLFQLELEVVDGDGAASDPFAFMVTVKSMNTLVPVASHNRGLVLFEGQSRPLSSTHSIPISDKDNLEEVKMAAVRGLRHGQLVVFGAPAGCKYFTPADLAAGRVVYQHDGSNTYSDNIIFRMEDGHHQVDFLFPLTILPVDDEPPMVNTNTGLSLTEGQVVQISPFVLSATDIDSEDSTIHFVLENQPLKGNEEEPQWELAPGSSHSGHYLGDLLLQQAELPLSTEDEDWHYMEKEGLYEKVVTEWLQRDIMEGRLFYRHLGPHSPQSVMVQLAFHVQDDHDPPNLSKQHIFTIKVQPVDILSPQLYPGTTLEMTVQEYQLTHFQKNFLRYIDQDSDDQNLWYTLLTLPTDTDGNHQVRAGEIVLTDSPDTLIMHFTQAQVNQHKVAYQPPQKLGIAPRVVQFTYQVEDAAGNSVPGTFTLFLQPVDNQPPEVTNRGFAILEGGSFNLSSNELHVTDPDTDIDQIVFILVRGPQHGHLQYFKRCMVPGESFMQADVINGSVSYQHGRDQTTTSDTFHLEVSDGVHHIPITIPISVHPNVANRSPRISLRSSSLLDVSIDVLENKATEITMGVIHGKRKDVGDLMLSFIVKDSPKLGTILVNGLPTERFTQEDLINGRVAYAHTAGEVGFQKQHDAFSLILSKDSYQWVVGNSIIEKVQVQVTVLPVDNVGPKVFVGESFIVYEGEKNSLTLQHLHVEDVDTHQDELLCTVTSQPASGYLEKIASAPGSKMSQSGSPISAFSLRDIQVRHINYVQSIHKGVEPQEDQFTFYCSDGINFSPNVFFPIIILPTNDEQPKLFAHEFKVLEGMSLVIDTQLLNGADADLPPNELHFQLTALPRHGRIIQQLATGSQPIHSFTLKEIQEASTIVYEHDDSETKEDSFEVWLSDGKHTTHRKVPIVVTLVDDETPHLTVNNGLKVEKGHSEIITNRILKATDLDSDDKSLSFVLHSGPQQGLLQRLRKPRGEVRNNLTLGMNFTQDEINRGLICYIHTGQEGIVDIIKFDVTDGVNTLTDHYFYVTIGNLDSVFPEVISKRITLIEGARVTLTNNLLTNSDINSSDEHHFSITRAPSLGHLESSDYAGEPIASFTQLQLASNKISYVHTSNDEKKMDSFEFQVIGELYPVFRTFRIFITDVDNKKPILTIHRLTLQKEDSQLITLLELTVEDSDTPDDLILFTITQVPMHGKILYNGSRPVTTFTKQDLNKNLISYKHDGSETTEDSFSLTVTDGTHTDFYVLPDTALATHKPQVMRVQIRSLDNRLPQITTNRGAPALKRLHTGHMGFLITSKSLKAEDQDSPHRLLKYKVTRGPEHGFIIKTGLGNQSTRVFTQADIDEMKISYVLNEGSNASKDIFYFSVEDNGGNKLTNQPFHLNWAWICLEKEYYIVDEDSTFLEVTLTRRGYLGETSFISIGTKDETAKKDKDFKWKTNKQIQFNPGQTTATWRVRIIPDNEYETSETFQIILSEPLMAVLEFPEMATVEIVDPGDESTVYIPEAEYKIEEDIGELLIPVRRSGDASQELIVICSTRQGSATGTISSTVLFSDYISRPEDHTSILHFDKNETQKTCQVLIIDDSLYEEEESFSVSLRLPVGGQLGARFPTTKVTILADRYDEPVLHFGDAEYHVNESARYVEVCVWRRGTDLSQPSSIAVRSRKSEQESAEAGTDYVGISRNLDFAPGVRMQTFQVTILDDLGQPTLEGPEKFELLLQMPMGAVLGEPNKTTIFIEDTITDCKQSACSSFD", "length": 2139, "header": "sp|P0C091-1|FREM3_HUMAN Isoform 1 of FRAS1-related extracellular matrix protein 3 OS=Homo sapiens OX=9606 GN=FREM3 PE=3 SV=2 CANONICAL=P0C091-1" }, "locus": { "chromosome": "4", "start_pos": 143700675, "end_pos": 143577614, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000329798.5", "url": "https://www.ensembl.org/id/ENST00000329798.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000332886.5", "url": "https://www.ensembl.org/id/ENSP00000332886.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1368, "start_aa": "Asn", "end_pos": 1368, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1368", "evidence": [ { "id": "P0C091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C091#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1374, "start_aa": "Asn", "end_pos": 1374, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1374", "evidence": [ { "id": "P0C091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C091#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1588, "start_aa": "Asn", "end_pos": 1588, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1588", "evidence": [ { "id": "P0C091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C091#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 846, "start_aa": "Asn", "end_pos": 846, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn846", "evidence": [ { "id": "P0C091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C091#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 1556, "end_pos": 1556, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P0C091", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P0C091" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr1556" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2004", "authors": "Smyth I, Du X, Taylor MS, Justice MJ, Beutler B, Jackson IJ", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "reference": [ { "type": "PubMed", "id": "15345741", "url": "https://glygen.org/publication/PubMed/15345741" } ] }, { "title": "A study of the combined effects of the EHD3 and FREM3 genes in patients with major depressive disorder.", "journal": "American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics", "date": "2012", "authors": "Shi C, Zhang K, Wang X, Shen Y, Xu Q", "evidence": [ { "database": "RefSeq", "id": "NP_001161707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161707" } ], "reference": [ { "type": "PubMed", "id": "22337703", "url": "https://glygen.org/publication/PubMed/22337703" } ] } ], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "D3ZYN7-1", "protein_name": "FRAS1 related extracellular matrix 3", "gene_name": "Frem3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAGHSLNLSGMSPQLLVALACLLLTCGALREQVPLNENVSHGELYLPPWGALDGGSHQNPGILITNPGFQVPQGRSVWLDPLRDLMIQVQPGDQCEVTVLDIPRLQGALSPRQFPCDFGARQVKYIHFGSPTATRTRIQLQLRYEAGNSTLVLPFTLQVNVVFPKLQLVTCNRPLKVFRLLGCSQAIDRRVLNFTSSSRCRLTLLPHPGGPLPKYGHLVDAAGTPLSRGHMADCETFIQAGVRYQHTATPSSPTRDYVPMLVELLGPESRDTRSAKVLAQEYCQLQVRLQKGARSTAPRPSFAAPMMVEVEQFLLTALTPDALAAEDGESDPDDLVFKILNAPEAPPGHHGRQGSVVNTDDPLGLPVSFFTQKELRELKIAYRPPTGSSEGDLIFQLVLQVEDEDGDTSEPFVFMVVVKSLNALAPAARYSAGLAVYEGQARPLSDAQNFQVSDNSKEIRIAAVRGLQHGQLVVRGAPVECKCFTPADLSAGRVVYQHDGSDSYSDNVILEMEDGHHQVDFLFPITIVPVDDEAPVLTTNTGLSVTEGQAIPISPFVLCATDIDSEDSAILFVLEDQHPEGKEKKRGEALTPGFYSSNQYTGKMLLRQAEAPSSLLRSDWYYVEKEGLYEKAVTEWLQRDITEGRLFFFYLGPHSPSTVARLAFRVQDDHDPPNLSNQHLLTISIQPAEKQSPQLSPETTLEMTVQGYQLTPFQKKFLQYIGQNSDDQNLSYTLLTGPTDMDSNHQVPAGEIVLTDSPNRPIVHFTQAQVNHQKIAYRPPPRNLGIVPRVVQFTYKVEDIAGSSVPGTFTLFLQPLNSQPPKVITRGFAVLEGHSFILGRGELNVSDPDTNVDQLFFVLVWGPQHGHLQYFKKYMVPGESFMLADVVNGNISYQHSRDQTTSDVIYLEVSDGVHHIPITVQVSVLPTVAKRSPGVSFTDTRVLAISLDVLENAASEVTVGVTHGGKDLMLSFIVEDKPKLGIILVNGLPAERVTQEDLLGGAVSYAHTGGEIGFRGVCDVFSFILSTDARHPTVGDNTPERVLVEVTVLPVDNTAPKVSVGEPFVVYEGEKNPLTPQHVNIEDVDTSEDEILCTLTAQTSSGYLENLAPAPGSEVSQAGSPISAFFIKDVRVGRINYVQSIHKGVEPGTDHFTFYCSDGVNFSPNVLLPLTILPTNDEQPELFTQEFVVLEGMSRVIDTSLLNGVDADFPPEKLHFRLTVLPQHGRILQQLATGSKPIHSFTLQEIQEPSSIVYEHDDSQSTEDSFEVWLSDGRHSAHKKVPVVVILVDDEAPQLAINDGLEVETGHSEIITNRMLKATDPDSDNKSLSFVLHSELQQGLLQRLKKPGGDVRSNLTVGMNFTQDEIDRDLICYTHTGQGEAVDLLKFDVTDGVNPLRDHYFYITISNSNSIIPEVVSKRVTLTEGSRVTLTTELFNTSAIHSPGEQLQYCIKRAPRTGHLESSDQPGEPIASFTQLHLASNKISYVCISKDERKMDHFELRVTGGHSSVSRVFRLFVTDQDNKKPTLTIQTLVLQRGDSIVVTPSQLTVEDEDTPADFILFTITQVPIHGRILYNGSHPVTTFTKKDLTENVILYRHDGSETTKDSFSFTVTDGIHAGFYVFPDTALETHVPQMVQIQISPLIDRLPQITINRGARALTILHTGHVGFLITSKYLQATHQDAPHRLLTYKVTSGPEHGYIVNAGLGDESTHTFTQADIDEMQIYYILNKDHGSATRDTFYFSVGTSGGSQLRNQPFHLKWAWISLEKEYYIVDEDSPFFEVTLTRRGYLGGTSVISIGTKGDTAEENKDFKGKAPTRVQFNPGQSTATWNVGLIPDTKYETSETFQIVLSEPDMAALEFPEMATVEIVDPEDESTVYIPEAEYKLAEAVGEFLVPVRRSGDISQELTVICSTRPGSAAGTIPSMELSLSDYISRPEDNRSRLHFEKEEREKTCQVLIINDSLYEEEESFSIALSLPMGGRLGARFPTARVTILADREDEPALHFEYSEYHVEESAGSVEVAIWRRGTDLSLASSVVLRSRRTEQQAAEAGTDYIGVSQNLHFRPGVSVQRLRVTILDDLPQPAFEGPEMFELLLQMPTGAVLGEPNKTTVTIDDSTTNCEEECV", "length": 2124 }, "evidence": [ { "id": "45922329", "url": "http://www.informatics.jax.org/homology/45922329", "database": "MGI" }, { "id": "P0C091", "url": "https://omabrowser.org/oma/group/P0C091/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q5H8B9-1", "protein_name": "FRAS1-related extracellular matrix protein 3", "gene_name": "Frem3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAGDSLSLPGMSLQLLVTLTCLLLTCALRERVPLSENVSHCELYLPPWGALNGGSHQNPGILIANSGFQVPQGRSVWLNPLRDLVIRVQRGDQCKVTVLDFPRLQGALSPHQFPCDFGAQQVKYTHFGSPSSTRTRIQLQVRYDAGNSTLVLPFTLQVNVVFPKLQLVARNRPLKVFKVLGCSHAIDRRVLNFASRSRCRLTVLPHPGGPLPKYGLLVDTAGNPLSRGHLADCEAFIQAGVRYQHTTTPSSPSRDYVPMLVELLGPESQGTRSVEVLAQEYFQIQVRIQKRARSTAPIPSLAALMIVEVEQSLLTALTPDVLAAEDSESDPDDLVFNILNVPEAPPGHHGGQGYVVNTDDPLGLPVSFFTQKELRELKIAYRPPTGSSEGDHVFQLKLQVVDEDGDTSEPFAFMVVVKSMNVLAPIASYRGGLVVFEGQARPLSDALSFQVSDKDNSKEIKIVAVRGLQHGQLVVHGAPAGCKNFTLADLSAGRVVYQHDGSDSYSDNIILKMEGEHHRVDFLFPITIVPVDDAAPVLTANMGLSVTEGQVVQISPFVLCATDIDSEDSAILFVLEDEHLEGKEEETHEDLAPGSYSSSQHPGNMLLRQAEPPSSLLYSDWHYVEKEGLYETVVTEWLQRDIMEGRLFFSHPGPHSPSPVAHLAFHVQDDQDPPNLSNQHFFTISIQPADTSQPQLSPETTLEMTVQGYQLTPFQQKYLQYTDQNSDEQNLWYTLLTRPTDADSNHQVQAGEIVLTDSPGRPIVHFTQTQVNHQKIAYRPPQRNLGIVPRVVQFTYKVEDTAGNSVSGTFTVFLQPLNNQPPKVINRGFAVLEGDSFILGRGELNVSDPDTNDDQIFFILVWGPQHGHLQYFKKYMVPGESFMLADVINGSISYQNSRDQTDSDVIYLEVSDGVHHIPITVQVSVQPTVADRSPGISITGTPVLATSLTVLENAASEITMDVTHGRKNTNDLMLSFIVEDKPKLGMILVNGWPAEQVTQEDLLGGAVSYVHTSGEIGFQRVHDTFSFILSKDAYHRAMRDNILERVLVEVTVLPVDNMAPKVLVRKPFIVYEGGKNLLTPQHVNIEDVDTSKDEILCTLTVQPSSGYLENLAPAPGSEVSRAGNPISAFFVKDVRVGCINYVQSIHKGIEPGADQFTFYCSDGINFSPKVLLPLTILPTNDEQPQLFTREFVVLEGMSRVIDTSLVNGVDADFPSDKHFRLTVFPQHGQITQQLATGSKPIHSFTLQEIQEPSSIAYEHDDSESTEDSFEVWLSDGRHTTHTTVPIAVILVDDEVPQLTINDGLEIETGHSEIITNHILKAIDLDSDNKSLSFVLHSEPQQGLLQRLRKPGGDAKHNLTVGMNFTQDEIDRGLIHYIHTGQGEAVDLKFDVTDGVNTLRDRYFYITIDNSNSAVPEIVSKRVTLTEGNRMTLTTELLNTSDIHSPGEQLLYSITRAPSTGHLESSDQPGEPMASFTQLQLARNKISYVHISNDKIKLDHFELRVTGGHHSESRIFRIFVTEQDNKKPTLTIQALALQRGDNIVVTPSQLTVEDEDTPADFILFTITQIPIHGRILYNGSRPVTTFTKKDLTKSLIYCHDGSETSKDSFSFTVTDGIHTGFYVFPDTSLETHVPQTVWIQISPFDDRLPQMGINRGATALKLLHTGHLGFLITNEYLQATHQGVPHRLLTYKVTRGPEHGYIVNAGLGNENTHMFTQADIDEMRVYYILNKGRGRATRDTFYFSVETRGGKQLRNQPFHLNWAWISLEKEYYIVDEDSPFFEVTLRRGYLGGTSVVSIGTKGDTAEENKDFKGKAPMLVQFSPGQSTATWRVGLIPDTKYETSETFQIILSEPGAAALEFPEMATVEIVDPEDESTVYIPEAEYQLAEAVGEFLVPVRRSGDTSQELTVICSTRPGSATGTIPSVQLSLSDYVSRPEDNTSMLHFEKDESEKTCQVLIINDSLYEEEESFSIALSLPTGGQLGAKFPTARVTILADREDEPALHFECSEYHAEESAGYVEVAVWRRGTGLSQASSVIVRSRGTEEQAAEAGTDYIGVRQHLHFSPGVSVQRLRVTILDDLPQPAFEGPEMFELLLQMPTGAVIGEPNKTTVTINDSVTNCEECV", "length": 2123 }, "evidence": [ { "id": "45922329", "url": "http://www.informatics.jax.org/homology/45922329", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P0C091", "url": "https://www.uniprot.org/uniprot/P0C091" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1175, "end_pos": 1177, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1368, "end_pos": 1370, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1374, "end_pos": 1376, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1455, "end_pos": 1457, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1588, "end_pos": 1590, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1720, "end_pos": 1722, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1745, "end_pos": 1747, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1958, "end_pos": 1960, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2023, "end_pos": 2025, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2117, "end_pos": 2119, "annotation": "n_glycosylation_sequon" }, { "start_pos": 684, "end_pos": 686, "annotation": "n_glycosylation_sequon" }, { "start_pos": 846, "end_pos": 848, "annotation": "n_glycosylation_sequon" }, { "start_pos": 897, "end_pos": 899, "annotation": "n_glycosylation_sequon" }, { "start_pos": 940, "end_pos": 942, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 846, 1368, 1374, 1588 ], "o_linked_sites": [], "snv_sites": [ 149, 183, 304, 518, 587, 749, 829, 836, 846, 848, 907, 912, 1088, 1219, 1271, 1368, 1376, 1409, 1463, 1500, 1539, 1565, 1588, 1590, 1604, 1683, 1767, 1884 ], "glycation_sites": [], "phosphorylation_sites": [ 1556 ], "sequon_annotation_sites": [ { "start_pos": 1175, "end_pos": 1177 }, { "start_pos": 1368, "end_pos": 1370 }, { "start_pos": 1374, "end_pos": 1376 }, { "start_pos": 1455, "end_pos": 1457 }, { "start_pos": 1588, "end_pos": 1590 }, { "start_pos": 1720, "end_pos": 1722 }, { "start_pos": 1745, "end_pos": 1747 }, { "start_pos": 1958, "end_pos": 1960 }, { "start_pos": 2023, "end_pos": 2025 }, { "start_pos": 2117, "end_pos": 2119 }, { "start_pos": 684, "end_pos": 686 }, { "start_pos": 846, "end_pos": 848 }, { "start_pos": 897, "end_pos": 899 }, { "start_pos": 940, "end_pos": 942 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 28 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 25 }, { "field": "total_sites", "count": 25 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }