{ "uniprot_canonical_ac": "A1L4H1-1", "ptm_annotation": [], "sequence": { "header": "sp|A1L4H1-1|SRCRL_HUMAN Isoform 1 of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=3 CANONICAL=A1L4H1-1", "length": 1573, "sequence": "MRVLACLLAALVGIQAVERLRLADGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRQLGCGGALAAPGGAFFGEGAGPVWLSELACRGNEGQLGLCHHRGWKAHICSHEEDAGVVCAGQRVANSRDDSTSPLDGAPWPGLLLELSPSTEEPLVTHAPRPAGNPQNASRKKSPRPKQAKSTRAPLLTTGAPRQERLRLVSGPHRCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGAGPVWMDDVGCGGGEQALRDCPRSPWGRSNCDHSEDAGLVCTGPAPRLRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACRELGCGGALAAPGGAFFGEGSGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGYVPPTAPTDSNNSTPREAASRPPSTMTSQAPGTAGVSPPPASPTVLWEPGPEAGSPQLRLVAGPSKCSGRLEVWHDQRWGTVCDDSWDMRDSAVVCRELGCGGPQQPDPAAGRFGWGAGPIWLDDVGCVGTEASLSDCPAAPWGKHNCAHNEDVGVTCTGPPGLDSISDPFSWSWIPGLGRDRDAWLPGELATKPSASVTASVLEKTTTKAPGKMPKSTKKWVTKNAKRPTTQPPVMPTTKHSRAQSPPDLTSQTTAALTTEASRRPTSEFTRRPTTEAPQRWTSHTTATLTPQAPRERTTKTMAMLTTQGPQEMTSESTIKSIPQASLEPSAEIPEGSPESPKDPAPSPSVSTTGESGLFRVRLADGPNRCAGRLEVWHAGRWGTVCDDNWDLRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSEASLSDCPSGAWGKHNCDHEEDVGLTCTGYTDYDDYPPWTWDPTSREDLAKGTTTAGVPGHTLPWRTTRRPGSSSPAIRRLPDTGSKDGYKLPWTWDTPSGRGLAEGTPTAGKLGPTLGAGTTRSPGSPPTLRVHGDTGSPRKPWPERRPPRPAATRTAPPTPSPGPSASPGPPGPALTSDSSRELTPHSALTSEATSDAPDTSPPTPDPASRTNPDLILTSPDFALSTPDSSVVPALTPEPSPTPLPTLPKELTSDPSTPSEVTSLSPTSEQVPESDTTPDLDTTPYSSTVSEYSRSPDPSPSPHPTTTPDPTMAPDPITTLNPTVTPHFPTTPHPTTTPHPTTITHSTMIPDPTTTPQPFTTITHSTMIPDPTTTPQPFTTMQPTTTPHSTTPHPTTTPHPTTITHSTMIPDPTTTPQPFTTMQPTTMPHPTTTPHPTTTPHPTTTPHPTTTPHPTMTPDPTTTPYPTTTPDPTTTPHPTTPDPSSTPVITTVSLPTSLGTELSSPTLAPTVKPSLHPQLTFTAPAPHTSTSQIPTLEPSPALESSPSRSSTATSMDPLSTEDFKPPRSQSPNLTPPPTHTPHSASDLTVSPDPLLSPTAHPLDHPPLDPLTLGPTPGQSPGPHGPCVAPTPPVRVMACEPPALVELVAAVRDVGGQLQRLTQVVEQERQERQALLLGLTQLVEAARGLGQLGEAVKRLAEMAWTTSMPAPTTTTPEEEERPLRGDV" }, "uniprot_id": "SRCRL_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "reported_with_glycan.unicarbkb", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "man", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "type": [ "PubMed" ], "id": "30459171" } ], "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "evidence": [ { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19535143", "type": [ "PubMed" ], "id": "19535143" } ], "title": "Molecular cloning and analysis of SSc5D, a new member of the scavenger receptor cysteine-rich superfamily.", "journal": "Mol. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "authors": "Oliveira C., Pinheiro H.C., Carmo A.M., Castro M.A., Davis S.J., Moreira A., Oliveira M.I., Evans E.J., Goncalves C.M., Henriques T., Sreenu V.B.", "date": "2009" } ], "uniprot_ac": "A1L4H1", "site_annotation": [ { "end_pos": 170, "annotation": "n_glycosylation_sequon", "start_pos": 168 }, { "end_pos": 1421, "annotation": "n_glycosylation_sequon", "start_pos": 1419 }, { "end_pos": 422, "annotation": "n_glycosylation_sequon", "start_pos": 420 }, { "end_pos": 423, "annotation": "n_glycosylation_sequon", "start_pos": 421 }, { "end_pos": 378, "annotation": "n_glycosylation_sequon", "start_pos": 376 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1#A1L4H1-1", "isoform_ac": "A1L4H1-1", "locus": { "end_pos": 55488590, "start_pos": 55518995, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389623", "id": "ENST00000389623", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374274", "id": "ENSP00000374274", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L4H1-1|SRCRL_HUMAN Isoform 1 of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=3 CANONICAL=A1L4H1-1", "length": 1573, "sequence": "MRVLACLLAALVGIQAVERLRLADGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRQLGCGGALAAPGGAFFGEGAGPVWLSELACRGNEGQLGLCHHRGWKAHICSHEEDAGVVCAGQRVANSRDDSTSPLDGAPWPGLLLELSPSTEEPLVTHAPRPAGNPQNASRKKSPRPKQAKSTRAPLLTTGAPRQERLRLVSGPHRCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGAGPVWMDDVGCGGGEQALRDCPRSPWGRSNCDHSEDAGLVCTGPAPRLRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACRELGCGGALAAPGGAFFGEGSGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGYVPPTAPTDSNNSTPREAASRPPSTMTSQAPGTAGVSPPPASPTVLWEPGPEAGSPQLRLVAGPSKCSGRLEVWHDQRWGTVCDDSWDMRDSAVVCRELGCGGPQQPDPAAGRFGWGAGPIWLDDVGCVGTEASLSDCPAAPWGKHNCAHNEDVGVTCTGPPGLDSISDPFSWSWIPGLGRDRDAWLPGELATKPSASVTASVLEKTTTKAPGKMPKSTKKWVTKNAKRPTTQPPVMPTTKHSRAQSPPDLTSQTTAALTTEASRRPTSEFTRRPTTEAPQRWTSHTTATLTPQAPRERTTKTMAMLTTQGPQEMTSESTIKSIPQASLEPSAEIPEGSPESPKDPAPSPSVSTTGESGLFRVRLADGPNRCAGRLEVWHAGRWGTVCDDNWDLRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSEASLSDCPSGAWGKHNCDHEEDVGLTCTGYTDYDDYPPWTWDPTSREDLAKGTTTAGVPGHTLPWRTTRRPGSSSPAIRRLPDTGSKDGYKLPWTWDTPSGRGLAEGTPTAGKLGPTLGAGTTRSPGSPPTLRVHGDTGSPRKPWPERRPPRPAATRTAPPTPSPGPSASPGPPGPALTSDSSRELTPHSALTSEATSDAPDTSPPTPDPASRTNPDLILTSPDFALSTPDSSVVPALTPEPSPTPLPTLPKELTSDPSTPSEVTSLSPTSEQVPESDTTPDLDTTPYSSTVSEYSRSPDPSPSPHPTTTPDPTMAPDPITTLNPTVTPHFPTTPHPTTTPHPTTITHSTMIPDPTTTPQPFTTITHSTMIPDPTTTPQPFTTMQPTTTPHSTTPHPTTTPHPTTITHSTMIPDPTTTPQPFTTMQPTTMPHPTTTPHPTTTPHPTTTPHPTTTPHPTMTPDPTTTPYPTTTPDPTTTPHPTTPDPSSTPVITTVSLPTSLGTELSSPTLAPTVKPSLHPQLTFTAPAPHTSTSQIPTLEPSPALESSPSRSSTATSMDPLSTEDFKPPRSQSPNLTPPPTHTPHSASDLTVSPDPLLSPTAHPLDHPPLDPLTLGPTPGQSPGPHGPCVAPTPPVRVMACEPPALVELVAAVRDVGGQLQRLTQVVEQERQERQALLLGLTQLVEAARGLGQLGEAVKRLAEMAWTTSMPAPTTTTPEEEERPLRGDV" } }, { "url": "https://www.uniprot.org/uniprot/A1L4H1#A1L4H1-2", "isoform_ac": "A1L4H1-2", "locus": { "end_pos": 55488590, "start_pos": 55504183, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000587166", "id": "ENST00000587166", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467252", "id": "ENSP00000467252", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L4H1-2|SRCRL_HUMAN Isoform 2 of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=3 CANONICAL=A1L4H1-1", "length": 951, "sequence": "MRVLACLLAALVGIQAVERLRLADGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRQLGCGGALAAPGGAFFGEGAGPVWLSELACRGNEGQLGLCHHRGWKAHICSHEEDAGVVCAGQRVANSRDDSTSPLDGAPWPGLLLELSPSTEEPLVTHAPRPAGNPQNASRKKSPRPKQAKSTRAPLLTTGAPRQERLRLVSGPHRCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGAGPVWMDDVGCGGGEQALRDCPRSPWGRSNCDHSEDAGLVCTGPAPRLRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACRELGCGGALAAPGGAFFGEGSGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGYVPPTAPTDSNNSTPREAASRPPSTMTSQAPGTAGVSPPPASPTVLWEPGPEAGSPQLRLVAGPSKCSGRLEVWHDQRWGTVCDDSWDMRDSAVVCRELGCGGPQQPDPAAGRFGWGAGPIWLDDVGCVGTEASLSDCPAAPWGKHNCAHNEDVGVTCTGPPGLDSISDPFSWSWIPGLGRDRDAWLPGELATKPSASVTASVLEKTTTKAPGKMPKSTKKWVTKNAKRPTTQPPVMPTTKHSRAQSPPDLTSQTTAALTTEASRRPTSEFTRRPTTEAPQRWTSHTTATLTPQAPRERTTKTMAMLTTQGPQEMTSESTIKSIPQASLEPSAEIPEGSPESPKDPAPSPSVSTTGESGLFRVRLADGPNRCAGRLEVWHAGRWGTVCDDNWDLRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSEASLSDCPSGAWGKHNCDHEEDVGLTCTGYTDYDDYPPWTWDPTSREDLAKGTTTAGVPGHTLPWRTTRRPGSSSPAIRRLPDTEPEAGAPRGDAPRSRTARVAAPP" } }, { "url": "https://www.uniprot.org/uniprot/A1L4H1#M0QZ17-1", "isoform_ac": "M0QZ17-1", "locus": { "end_pos": 55488590, "start_pos": 55489571, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000594321", "id": "ENST00000594321", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000470226", "id": "ENSP00000470226", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|M0QZ17-1|SRCRL_HUMAN Computationally mapped isoform of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=1 CANONICAL=A1L4H1-1", "length": 90, "sequence": "MRVLACLLAALVGIQAVERLRLADGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRQLGCGGALAAPGGAFFGEGAGPVWLSELACR" } }, { "url": "https://www.uniprot.org/uniprot/A1L4H1#K7EPL3-1", "isoform_ac": "K7EPL3-1", "locus": { "end_pos": 55493891, "start_pos": 55499973, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000589020", "id": "ENST00000589020", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467434", "id": "ENSP00000467434", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EPL3-1|SRCRL_HUMAN Computationally mapped isoform of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=2 CANONICAL=A1L4H1-1", "length": 118, "sequence": "DAGAVCDGMPLGYVPPTAPTDSNNSTPREAASRPPSTMTSQAPGTAGVSPPPASPTVLWEPGPEAGPPGLDSISDPFSWSWIPGLGRDRDAWLPGELATKPSASVTASVLEKTTTKAP" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000471", "resource": "Reactome", "id": "R-HSA-3000471", "name": "Scavenging by Class B Receptors" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:284297", "resource": "KEGG Pathway", "id": "hsa:284297", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1#function", "annotation": "Binds to extracellular matrix proteins. Binds to pathogen-associated molecular patterns (PAMPs) present on the cell walls of Gram-positive and Gram-negative bacteria and fungi, behaving as a pattern recognition receptor (PRR). Induces bacterial and fungal aggregation and subsequent inhibition of PAMP-induced cytokine release. Does not possess intrinsic bactericidal activity. May play a role in the innate defense and homeostasis of certain epithelial surfaces (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1#function", "id": "A1L4H1", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZPK4-1", "protein_name": "Scavenger receptor cysteine-rich family member with 5 domains", "sequence": { "length": 1436, "sequence": "MRVLACLLAMLVGIQAIERLRLADGPHGCAGRLEVWYSGRWGTVCDDGWDLRDAAVACRVLGCGGALAAPGGAFFGEGTGPVWLSELACRGSEGQLGICPHRGWKAHICSHEEDAGVVCVGQRAANSREDSVSLLDGDPWLALSGELSPSSEEPPITHAPQPAASSQNGPRKKNPRPPKQVKSTRAPVLTNGAPRQERLRLVSGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGEGPVWMDDVGCGGGEEALRDCPRSPWGRSNCDHTEDAGLVCTGPAPRLRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACRELGCGGALAAPGGAFFGEGAGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGGDVQPTAPAVDSNRTTPRLQSTSVGHTPGPAGSWPPPASPTAPPEPGPEAGSPQLRLVAGPSRCSGRLEVWHDGRWGTVCDDSWDMRDSAVVCRELGCGGPRQPDPAAGRFGWGAGPIWLDDVGCVGTEASLSECPAASWGKHNCAHNEDVGVTCTGTPGLDTISDPFSWSWLPGLGRDQDAWLPGELATKPSASLTSSVLQKTTKAPGKVPKSTKKWVTKNAKRPTTQPPGIPITKRPRVPGTPTSLSPTPRTSELPKRLTAEAPRRQTSHTTERLTPRVPWEWTSETAASLSTQGPQEVTSEATTAQTPQTSLEPFGENPEGSLESSQDPAATPTAGVPVPSGPFRVRLADGPNRCAGRLEVWHAGLWGTVCDDSWDLRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSETSLSDCPSGTWGKHNCDHEEDVVLTCTGYTGDDDYPSWTWDPTSEEDLTKRTTVATQPGHTPSWATTTNPEVLSPATQSLPDIDDQGSYELSWTWDTPSGRSLSKGTPTTTKPGSTVTTSTRKSPGHPFPAPRARANTGLPRKPKPERRTLQPTSARTTHTTSSPASYTSPEPSGSQQTSGSWPQLFPDLASKQEGTSTPPKTSPLTPGLPSPTNFALSTTDASLLPTRPPELSGSPTSNSPEGLTSDSPMLLEVSSLSPTSELTPGSDMTPDLGTAPKIIPESSESSDLPTSPSTHTQPFTASYPTSIPHPTTIPHPTTTPHPRAPSHPTTIPQLNTTSYPTMALQPTTNPQHPGSPHPTTSPQPPTNTHSSSTSATPTKSLPSSPETEFSSPTPQPRVKPSLHPDLTFVGVPPTGKSQMQNLEFSLASESGPSRPSPAPSMDPLSTEVFKPPRSQTLHSVSEPMVTADLAISSMAHPSDQPPPDRLAQGPTSNHNPGPFGPCVSSVPPVRVMACEPPALVELVAAVREVGDQLQRLTRVLEQDRQERQVLGLGLVKLVEAAQGLGQLSETVKRLAEVAWPPSTPVPTTTTTEEEERPLRGDV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/77555", "id": "77555", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A1L4H1/", "id": "A1L4H1", "database": "OMA" } ], "common_name": "rats", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BV57-1", "protein_name": "Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D", "sequence": { "length": 1371, "sequence": "MRGLACLLAMLVGIQAIERLRLADGPHGCAGRLEVWHSGRWGTVCDDGWDLRDAEVACRVLGCGGALAAPGGAFFGEGTGPVWLSELNCRGNEGQLGICPHRGWKAHICSHEEDAGVVCVGQRAANSREDSMSLLDGDPWLALSGELSPSSEEPPITHAPQPAASSQNGPRKKNPRPPKQTKSTRAPVLTNGAPHQERLRLVSGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGEGPVWMDDVGCGGGEEALRDCPRSPWGRSNCDHTEDAGLVCTGPAPRIRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACKELGCGGALAAPGGAFFGEGTGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGAVQPTVPAVDSNSTAHRLLSTSVGQMPGPAGPWPPSASPTAPPEPGPEAGSPQLRLVAGPSRCSGRLEVWHDGRWGTVCDDSWDMRDSAVVCRELGCGRPRQPDPAAGRFGWGAGPIWLDDVGCMGTEASLSECPAASWGKHNCAHNEDVGVTCTGTPGLDTISDPFSWSWLPGLGRDQDAWLPGELTTKPSASLTSSVPQKPTKVPGKAPKSTKKWVTKNARRPTTQPPGMPTTKHSRAPGTPTSLHPTARTSELPKRLTTEAPHRQTSHTTVRLTPRVPWEWTSEPVVSQSTQGPQEVTSEATTTENPQTSLEPSGENTEGSLESSQDPATTPTAGVPVPSGPFRVRLADGPNRCAGRLEVWHAGLWGTVCDDSWDIRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSEMSLSDCPSGAWGKHNCDHEEDVVLTCTGYTGDDDYPSWTWDPTSGEDLTKGTTVAARPGHTLSWATTTNTEVPSPATQNLPDTDDQGGYESSWTWDTPSGRGLFKGTPTTTKPGSTVTTSTSKSPGHPFPAPRARAGSPRKPTPERRPLPTSATTSSPASSSSPEPSGSRQTSGSWPQLIPDSKQEGTSSSPKPSLLTPGLPSPATFALSTPNTSLLPTRSPELSGSPTPTSPEGLTSASSMLSEVSRLSPTSELTPGPDTTPAPEIIPESSDSSDLPMNTRTPTQPFTASHPTSIPQLNTTSYPTIAPQPTTNPQQPRSPHPATSPQPPTNTHPSSTPATPTESLPSSRKTELSSPTKPRLNSELTFEEAPSTDASQTQNLELFLASESGPSSPSPASNLDPLPTDAFKPPRSQTLHSASDHLTQGPTPNHNPDPFGPCVSPLPPVRVMACEPPALVELVGAVREVGDQLQRLTWVLEQDRQERQVLALGLAQLVEAAQGLGQLSETVKRLAEVAWPPSTPVPMTTTTEEEERPLRGDV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/77555", "id": "77555", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A1L4H1/", "id": "A1L4H1", "database": "OMA" } ], "common_name": "mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "S", "alt_nt": "A", "chr_id": "19", "ref_nt": "G", "chr_pos": "55500389", "disease": [ { "synonyms": [ { "id": "0110506", "url": "http://disease-ontology.org/term/DOID:0110506", "resource": "Disease Ontology", "name": "DFNB49", "description": "" }, { "id": "0110506", "url": "http://disease-ontology.org/term/DOID:0110506", "resource": "Disease Ontology", "name": "autosomal recessive deafness 49", "description": "" } ], "recommended_name": { "id": "0110506", "url": "http://disease-ontology.org/term/DOID:0110506", "resource": "Disease Ontology", "name": "autosomal recessive nonsyndromic deafness 49", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13." } } ], "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172762669", "id": "rs1172762669", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172762669", "id": "rs1172762669", "database": "gnomAD" } ], "sequence_mut": "N", "start_pos": 760, "keywords": [ "ebi", "germline", "disease" ], "end_pos": 760, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS); o-glyco-sequon-loss (S->N)." }, { "sequence_org": "T", "start_pos": 1207, "alt_nt": "A", "chr_id": "19", "ref_nt": "C", "chr_pos": "56029263", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "N", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "name": "SSC5D", "locus": { "end_pos": 55519098, "start_pos": 55488404, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000179954", "id": "ENSG00000179954", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1L4H1", "type": "synonym", "resource": "RefSeq", "name": "soluble scavenger receptor cysteine-rich domain-containing protein SSC5D isoform 1 precursor" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1L4H1", "type": "synonym", "resource": "RefSeq", "name": "soluble scavenger with 5 domains; soluble scavenger receptor cysteine-rich domain-containing protein SSC5D; scavenger receptor cysteine-rich glycoprotein; soluble scavenger protein with 5 SRCR domains; scavenger receptor cysteine rich domain containing (5 domains); scavenger receptor cysteine rich family, 5 domains" }, { "url": "https://www.uniprot.org/uniprot/A1L4H1", "type": "recommended", "resource": "UniProtKB", "name": "Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D" }, { "url": "https://www.uniprot.org/uniprot/A1L4H1", "type": "synonym", "resource": "UniProtKB", "name": "Soluble scavenger protein with 5 SRCR domains" }, { "url": "https://www.uniprot.org/uniprot/A1L4H1", "type": "synonym", "resource": "UniProtKB", "name": "SSc5D" } ] }