{ "uniprot_canonical_ac": "O60469-1", "uniprot_ac": "O60469", "uniprot_id": "DSCAM_HUMAN", "mass": { "chemical_mass": 222260.0, "monoisotopic_mass": 222260.0 }, "refseq": { "ac": "NP_001380", "name": "cell adhesion molecule DSCAM isoform CHD2-42 precursor", "summary": "This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" }, "gene_names": [ { "name": "DSCAM", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60469", "id": "O60469" }, { "name": "CHD2; CHD2-42; CHD2-52", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380", "id": "NP_001380" }, { "name": "DSCAM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380", "id": "NP_001380" } ], "protein_names": [ { "name": "Cell adhesion molecule DSCAM", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60469" }, { "name": "CHD2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60469" }, { "name": "Down syndrome cell adhesion molecule; cell adhesion molecule DSCAM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380", "id": "NP_001380" }, { "name": "Down syndrome cell adhesion molecule", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60469" }, { "name": "cell adhesion molecule DSCAM isoform CHD2-42 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380", "id": "NP_001380" } ], "function": [ { "annotation": "A specific promoter region directs expression of DSCAM in the developing choroid plexus and roof of the fourth ventricle, the floor plate of the fourth ventricle, pons and medulla oblongata, and the eye, limb buds, and dorsal root ganglion", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" }, { "database": "PubMed", "id": "12435380", "url": "https://glygen.org/publication/PubMed/12435380" } ] }, { "annotation": "Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies (PubMed:10925149). Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. Might also collaborate with UNC5C in NTN1-mediated axon repulsion independently of DCC (By similarity). In spinal cord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline to reach the floor plate upon ligand binding (PubMed:18585357, PubMed:19196994). Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 (PubMed:18585357, PubMed:19196994). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469#function" }, { "database": "PubMed", "id": "19196994", "url": "https://glygen.org/publication/PubMed/19196994" }, { "database": "PubMed", "id": "18585357", "url": "https://glygen.org/publication/PubMed/18585357" }, { "database": "UniProtKB", "id": "F1NY98", "url": "https://www.uniprot.org/uniprot/F1NY98#function" }, { "database": "UniProtKB", "id": "Q9ERC8", "url": "https://www.uniprot.org/uniprot/Q9ERC8#function" }, { "database": "PubMed", "id": "10925149", "url": "https://glygen.org/publication/PubMed/10925149" } ] }, { "annotation": "DSCAM/PAK1 pathway suppression reverses neurogenesis deficits in iPSC-derived cerebral organoids from patients with Down syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" }, { "database": "PubMed", "id": "33945512", "url": "https://glygen.org/publication/PubMed/33945512" } ] }, { "annotation": "Dysfunction of NMDA receptors in neuronal models of an autism spectrum disorder patient with a DSCAM mutation and in Dscam-knockout mice.", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" }, { "database": "PubMed", "id": "34253863", "url": "https://glygen.org/publication/PubMed/34253863" } ] }, { "annotation": "Long non-coding RNA Down syndrome cell adhesion molecule-anti-sense 1 promotes gastric carcinoma cell proliferation and migration by regulating the miR-204/TPT1 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" }, { "database": "PubMed", "id": "34372727", "url": "https://glygen.org/publication/PubMed/34372727" } ] }, { "annotation": "Role of DSCAM in the Development of Neural Control of Movement and Locomotion. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" }, { "database": "PubMed", "id": "34445216", "url": "https://glygen.org/publication/PubMed/34445216" } ] }, { "annotation": "The specificity of Drosophila Dscam is due to complementarity of variable residues in epitope I.", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" }, { "database": "PubMed", "id": "17721508", "url": "https://glygen.org/publication/PubMed/17721508" } ] }, { "annotation": "This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1414665585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414665585" }, { "id": "rs1414665585", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414665585" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1056, "end_pos": 1056, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFT->NFT).", "chr_id": "21", "chr_pos": "40124228", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757537662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757537662" }, { "id": "rs757537662", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757537662" }, { "id": "rs757537662", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757537662" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 107, "end_pos": 107, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "21", "chr_pos": "40708495", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60469", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60469" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 107, "end_pos": 107, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "21", "chr_pos": "40708496", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P107", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60469", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60469" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1162, "end_pos": 1162, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NYS->NYN).", "chr_id": "21", "chr_pos": "40133931", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1162", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1568958339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568958339" }, { "id": "rs1568958339", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1568958339" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1162, "end_pos": 1162, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYR).", "chr_id": "21", "chr_pos": "40133930", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770311896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770311896" }, { "id": "rs770311896", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770311896" }, { "id": "rs770311896", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770311896" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1218, "end_pos": 1218, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGI->NGT).", "chr_id": "21", "chr_pos": "40080175", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1414665585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414665585" }, { "id": "rs1414665585", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414665585" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1221, "end_pos": 1221, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KYT->NYT).", "chr_id": "21", "chr_pos": "40124228", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776936491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776936491" }, { "id": "rs776936491", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776936491" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1271, "end_pos": 1271, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->ISS).", "chr_id": "21", "chr_pos": "40093759", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764273759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764273759" }, { "id": "rs764273759", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764273759" }, { "id": "rs764273759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764273759" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1275, "end_pos": 1275, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IIT->NIT).", "chr_id": "21", "chr_pos": "40093747", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1275", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60469", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60469" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1341, "end_pos": 1341, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "21", "chr_pos": "40085712", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N1341", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian 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"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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60469", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60469" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 472, "end_pos": 472, "subjects_tested": "0", 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "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 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"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", 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cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "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": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "common_name": "Human" } ], "gene": [ { "name": "DSCAM", "url": "https://www.uniprot.org/uniprot/O60469", "locus": { "chromosome": "HG2265_PATCH", "start_pos": 150307, "end_pos": 986812, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000291561", "url": "https://www.ensembl.org/id/ENSG00000291561" } ] } } ], "crossref": [ { "id": "ENSG00000171587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171587", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60469", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60469", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00096", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00096", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd05734", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05734", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd05735", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05735", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd20958", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20958", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "DSCAM", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DSCAM", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1826", "url": "https://www.ncbi.nlm.nih.gov/gene/1826", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3039", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3039", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60469", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60469*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013098", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013098", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013106", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013106", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043204", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043204", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1826", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1826", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602523", "url": "http://www.omim.org/entry/602523", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60469", "url": "https://www.nextprot.org/entry/NX_O60469", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DGFDHHK", "url": "https://omabrowser.org/oma/group/DGFDHHK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3427297at2759", "url": "http://www.orthodb.org/?query=3427297at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10075", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10075", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10075:SF100", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10075:SF100", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6ZR7", "url": "https://www.rcsb.org/structure/6ZR7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00041", "url": "http://pfam.xfam.org/family/PF00041", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07679", "url": "http://pfam.xfam.org/family/PF07679", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13927", "url": "http://pfam.xfam.org/family/PF13927", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60469", "url": "https://pharos.nih.gov/targets/O60469", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60469", "url": "http://purl.obolibrary.org/obo/PR_O60469", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-376172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-376172", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WUI7", "url": "https://www.uniprot.org/uniprot/A0A087WUI7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WUI7-1", "url": "https://www.uniprot.org/uniprot/A0A087WUI7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60469-1", "url": "https://www.uniprot.org/uniprot/O60469-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60469-2", "url": "https://www.uniprot.org/uniprot/O60469-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8WY19", "url": "https://www.uniprot.org/uniprot/Q8WY19", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8WY19-1", "url": "https://www.uniprot.org/uniprot/Q8WY19-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWILALSLFQSFANVFSEDLHSSLYFVNASLQEVVFASTTGTLVPCPAAGIPPVTLRWYLATGEEIYDVPGIRHVHPNGTLQIFPFPPSSFSTLIHDNTYYCTAENPSGKIRSQDVHIKAVLREPYTVRVEDQKTMRGNVAVFKCIIPSSVEAYITVVSWEKDTVSLVSGSRFLITSTGALYIKDVQNEDGLYNYRCITRHRYTGETRQSNSARLFVSDPANSAPSILDGFDHRKAMAGQRVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENIRPSDSGSYVCEVSNRYGTAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGTEDQELSWYRNGEILNPGKNVRITGINHENLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSPAEPVSLMCNVKGTPLPTITWTLDDDPILKGGSHRISQMITSEGNVVSYLNISSSQVRDGGVYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHCRVIGYPYYSIKWYKNSNLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQPFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPGSLGVTIDNIDFTSSLRISNLSLMHNGNYTCIARNEAAAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPTIVWKFSKGAGVPQFQPIALNGRIQVLSNGSLLIKHVVEEDSGYYLCKVSNDVGADVSKSMYLTVKIPAMITSYPNTTLATQGQKKEMSCTAHGEKPIIVRWEKEDRIINPEMARYLVSTKEVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKARTITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRMYAKNRIGKSEPSNELTITADEAAPDGPPQEVHLEPISSQSIRVTWKAPKKHLQNGIIRGYQIGYREYSTGGNFQFNIISVDTSGDSEVYTLDNLNKFTQYGLVVQACNRAGTGPSSQEIITTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFRVIYWANLMDGELGEIKNITTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAASASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVWVVAVTSAGRGNSSEIITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWMKDSNGTPSLVTIDGRRSIFSNGSFIIRTVKAEDSGYYSCIANNNWGSDEIILNLQVQVPPDQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWGSFPISPSERSYRLENLKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWNDGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQANFATLNYDGSTIPPLIKSVVQNEEGLTTNEGLKMLVTISCILVGVLLLFVLLLVVRRRRREQRLKRLRDAKSLAEMLMSKNTRTSDTLSKQQQTLRMHIDIPRAQLLIEERDTMETIDDRSTVLLTDADFGEAAKQKSLTVTHTVHYQSVSQATGPLVDVSDARPGTNPTTRRNAKAGPTARNRYASQWTLNRPHPTISAHTLTTDWRLPTPRAAGSVDKESDSYSVSPSQDTDRARSSMVSTESASSTYEELARAYEHAKMEEQLRHAKFTITECFISDTSSEQLTAGTNEYTDSLTSSTPSESGICRFTASPPKPQDGGRVMNMAVPKAHRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQKSRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQREGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV", "length": 2012, "header": "sp|O60469-1|DSCAM_HUMAN Isoform 1 of Cell adhesion molecule DSCAM OS=Homo sapiens OX=9606 GN=DSCAM PE=1 SV=2 CANONICAL=O60469-1" }, "isoforms": [ { "isoform_ac": "A0A087WUI7-1", "url": "", "sequence": { "sequence": "SSISGSRFLITSTGALYIKDVQNEDGLYNYRCITRHRYTGETRQSNSARLFVSDPANSAPSILDGFDHRKAMAGQRVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENIRPSDSGSYVCEVSNRYGTAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGTEDQELSWYRNGEILNPGKNVRITGINHENLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSPAEPVSLMCNVKGTPLPTITWTLDDDPILKGGSHRISQMITSEGNVVSYLNISSSQVRDGGVYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHCRVIGYPYYSIKWYKNSNLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQPFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPGSLGVTIDNIDFTSSLRISNLSLMHNGNYTCIARNEAAAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPTIVWKFSKGAGVPQFQPIALNGRIQVLSNGSLLIKHVVEEDSGYYLCKVSNDVGADVSKSMYLTVKIPAMITSYPNTTLATQGQKKEMSCTAHGEKPIIVRWEKEDRIINPEMARYLVSTKEVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKARTITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRMYAKNRIGKSEPSNELTITADEAAPDGPPQEVHLEPISSQSIRVTWKAPKKHLQNGIIRGYQIGYREYSTGGNFQFNIISVDTSGDSEVYTLDNLNKFTQYGLVVQACNRAGTGPSSQEIITTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFRVIYWANLMDGELGEIKNITTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAASASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVWVVAVTSAGRGNSSEIITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWMKDSNGTPSLVTIDGRRSIFSNGSFIIRTVKAEDSGYYSCIANNNWGSDEIILNLQVQVPPDQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWGSFPISPSERSYRLENLKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWNDGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQANFATLNYDGSTIPPLIKSVVQNEEGLTTNEGLKMLVTISCILVGVLLLFVLLLVVRRRRREQRLKRLRDAKSLAEMLMSKNTRTSDTLSKQQQTLRMHIDIPRAQLLIEERDTMETIDDRSTVLLTDADFGEAAKQKSLTVTHTVHYQSVSQATGPLVDVSDARPGTNPTTRRNAKAGPTARNRYASQWTLNRPHPTISAHTLTTDWRLPTPRAAGSVDKESDSYSVSPSQDTDRARSSMVSTESASSTYEELARAYEHAKMEEQLRHAKFTITECFISDTSSEQLTAGTNEYTDSLTSSTPSESGICRFTASPPKPQDGGRVMNMAVPKAHRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQKSRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQREGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV", "length": 1847, "header": "tr|A0A087WUI7-1|DSCAM_HUMAN Computationally mapped isoform of Cell adhesion molecule DSCAM OS=Homo sapiens OX=9606 GN=DSCAM PE=1 SV=1 CANONICAL=O60469-1" }, "locus": { "chromosome": "21", "start_pos": 40369258, "end_pos": 40013037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000617870.4", "url": "https://www.ensembl.org/id/ENST00000617870.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000478698.1", "url": "https://www.ensembl.org/id/ENSP00000478698.1" } ] } }, { "isoform_ac": "O60469-1", "url": "", "sequence": { "sequence": "MWILALSLFQSFANVFSEDLHSSLYFVNASLQEVVFASTTGTLVPCPAAGIPPVTLRWYLATGEEIYDVPGIRHVHPNGTLQIFPFPPSSFSTLIHDNTYYCTAENPSGKIRSQDVHIKAVLREPYTVRVEDQKTMRGNVAVFKCIIPSSVEAYITVVSWEKDTVSLVSGSRFLITSTGALYIKDVQNEDGLYNYRCITRHRYTGETRQSNSARLFVSDPANSAPSILDGFDHRKAMAGQRVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENIRPSDSGSYVCEVSNRYGTAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGTEDQELSWYRNGEILNPGKNVRITGINHENLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSPAEPVSLMCNVKGTPLPTITWTLDDDPILKGGSHRISQMITSEGNVVSYLNISSSQVRDGGVYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHCRVIGYPYYSIKWYKNSNLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQPFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPGSLGVTIDNIDFTSSLRISNLSLMHNGNYTCIARNEAAAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPTIVWKFSKGAGVPQFQPIALNGRIQVLSNGSLLIKHVVEEDSGYYLCKVSNDVGADVSKSMYLTVKIPAMITSYPNTTLATQGQKKEMSCTAHGEKPIIVRWEKEDRIINPEMARYLVSTKEVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKARTITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRMYAKNRIGKSEPSNELTITADEAAPDGPPQEVHLEPISSQSIRVTWKAPKKHLQNGIIRGYQIGYREYSTGGNFQFNIISVDTSGDSEVYTLDNLNKFTQYGLVVQACNRAGTGPSSQEIITTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFRVIYWANLMDGELGEIKNITTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAASASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVWVVAVTSAGRGNSSEIITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWMKDSNGTPSLVTIDGRRSIFSNGSFIIRTVKAEDSGYYSCIANNNWGSDEIILNLQVQVPPDQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWGSFPISPSERSYRLENLKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWNDGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQANFATLNYDGSTIPPLIKSVVQNEEGLTTNEGLKMLVTISCILVGVLLLFVLLLVVRRRRREQRLKRLRDAKSLAEMLMSKNTRTSDTLSKQQQTLRMHIDIPRAQLLIEERDTMETIDDRSTVLLTDADFGEAAKQKSLTVTHTVHYQSVSQATGPLVDVSDARPGTNPTTRRNAKAGPTARNRYASQWTLNRPHPTISAHTLTTDWRLPTPRAAGSVDKESDSYSVSPSQDTDRARSSMVSTESASSTYEELARAYEHAKMEEQLRHAKFTITECFISDTSSEQLTAGTNEYTDSLTSSTPSESGICRFTASPPKPQDGGRVMNMAVPKAHRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQKSRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQREGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV", "length": 2012, "header": "sp|O60469-1|DSCAM_HUMAN Isoform 1 of Cell adhesion molecule DSCAM OS=Homo sapiens OX=9606 GN=DSCAM PE=1 SV=2 CANONICAL=O60469-1" }, "locus": { "chromosome": "21", "start_pos": 40846661, "end_pos": 40013037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400454.6", "url": "https://www.ensembl.org/id/ENST00000400454.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000383303.1", "url": "https://www.ensembl.org/id/ENSP00000383303.1" } ] } }, { "isoform_ac": "O60469-2", "url": "", "sequence": { "sequence": "MWILALSLFQSFANVFSEDLHSSLYFVNASLQEVVFASTTGTLVPCPAAGIPPVTLRWYLATGEEIYDVPGIRHVHPNGTLQIFPFPPSSFSTLIHDNTYYCTAENPSGKIRSQDVHIKAVLREPYTVRVEDQKTMRGNVAVFKCIIPSSVEAYITVVSWEKDTVSLVSGSRFLITSTGALYIKDVQNEDGLYNYRCITRHRYTGETRQSNSARLFVSDPANSAPSILDGFDHRKAMAGQRVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENIRPSDSGSYVCEVSNRYGTAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGTEDQELSWYRNGEILNPGKNVRITGINHENLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSPAEPVSLMCNVKGTPLPTITWTLDDDPILKGGSHRISQMITSEGNVVSYLNISSSQVRDGGVYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHCRVIGYPYYSIKWYKNSNLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQPFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPGSLGVTIDNIDFTSSLRISNLSLMHNGNYTCIARNEAAAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPTIVWKFSKGAGVPQFQPIALNGRIQVLSNGSLLIKHVVEEDSGYYLCKVSNDVGADVSKSMYLTVKIPAMITSYPNTTLATQGQKKEMSCTAHGEKPIIVRWEKEDRIINPEMARYLVSTKEVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKARTITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRMYAKNRIGKSEPSNELTITADEAAPDGPPQEVHLEPISSQSIRVTWKAPKKHLQNGIIRGYQIGYREYSTGGNFQFNIISVDTSGDSEVYTLDNLNKFTQYGLVVQACNRAGTGPSSQEIITTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFRVIYWANLMDGELGEIKNITTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAASASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVWVVAVTSAGRGNSSEIITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWMKDSNGTPSLVTIDGRRSIFSNGSFIIRTVKAEDSGYYSCIANNNWGSDEIILNLQVQVPPDQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWGSFPISPSERSYRLENLKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWNDGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQAKEAARCKEFS", "length": 1571, "header": "sp|O60469-2|DSCAM_HUMAN Isoform 2 of Cell adhesion molecule DSCAM OS=Homo sapiens OX=9606 GN=DSCAM PE=1 SV=2 CANONICAL=O60469-1" }, "locus": {} }, { "isoform_ac": "Q8WY19-1", "url": "", "sequence": { "sequence": "LGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENIRPSDSGSYVCEVSNRYGTAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGTEDQELSWYRNGEILNPGKNVRITGINHENLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSPAEPVSLMCNVKGTPLPTITWTLDDDPILKGGSHRISQMITSEGNVVSYLNISSSQVRDGGVYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHCRVIGYPYYSIKWYKNSNLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQPFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPGSLGVTIDNIDFTSSLRISNLSLMHNGNYTCIARNEAAAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPTIVWKFSKGAGVPQFQPIALNGRIQVLSNGSLLIKHVVEEDSGYYLCKVSNDVGADVSKSMYLTVKIPAMITSYPNTTLATQGQKKEMSCTAHGEKPIIVRWEKEDRIINPEMARYLVSTKEVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKARTITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRMYAKNRIGKSEPSNELTITADEAAPDGPPQEVHLEPISSQSIRVTWKAPKKHLQNGIIRGYQIGYREYSTGGNFQFNIISVDTSGDSEVYTLDNLNKFTQYGLVVQACNRAGTGPSSQEIITTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFRVIYWANLMDGELGEIKNITTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAASASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVWVVAVTSAGRGNSSEIITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWMKDSNGTPSLVTIDGRRSIFSNGSFIIRTVKAEDSGYYSCIANNNWGSDEIILNLQVQVPPDQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWGSFPISPSERSYRLENLKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWNDGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQANFATLNYDGSTIPPLIKSVVQNEEGLTTNEGLKMLVTISCILVGVLLLFVLLLVVRRRRREQRLKRLRDAKSLAEMLMSKNTRTSDTLSKQQQTLRMHIDIPRAQLLIEERDTMETIDDRSTVLLTDADFGEAAKQKSLTVTHTVHYQSVSQATGPLVDVSDARPGTNPTTRRNAKAGPTARNRYASQWTLNRPHPTISAHTLTTDWRLPTPRAAGSVDKESDSYSVSPSQDTDRARSSMVSTESASSTYEELARAYEHAKMEEQLRHAKFTITECFISDTSSEQLTAGTNEYTDSLTSSTPSESGICRFTASPPKPQDGGRVMNMAVPKAHRPGGPGTSRDLSLGQACLEPQKSRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQREGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV", "length": 1746, "header": "tr|Q8WY19-1|DSCAM_HUMAN Computationally mapped isoform of Cell adhesion molecule DSCAM OS=Homo sapiens OX=9606 GN=DSCAM PE=1 SV=1 CANONICAL=O60469-1" }, "locus": { "chromosome": "21", "start_pos": 40353654, "end_pos": 40013037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404019.2", "url": "https://www.ensembl.org/id/ENST00000404019.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000385342.2", "url": "https://www.ensembl.org/id/ENSP00000385342.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1142, "start_aa": "Asn", "end_pos": 1142, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1142", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1160, "start_aa": "Asn", "end_pos": 1160, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1160", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1250, "start_aa": "Asn", "end_pos": 1250, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1250", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1271, "start_aa": "Asn", "end_pos": 1271, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1271", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1341, "start_aa": "Asn", "end_pos": 1341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1341", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1488, "start_aa": "Asn", "end_pos": 1488, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1488", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 28, "start_aa": "Asn", "end_pos": 28, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn28", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 470, "start_aa": "Asn", "end_pos": 470, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn470", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 487, "start_aa": "Asn", "end_pos": 487, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn487", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 512, "start_aa": "Asn", "end_pos": 512, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn512", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 556, "start_aa": "Asn", "end_pos": 556, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn556", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 658, "start_aa": "Asn", "end_pos": 658, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn658", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 666, "start_aa": "Asn", "end_pos": 666, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn666", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 710, "start_aa": "Asn", "end_pos": 710, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn710", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 748, "start_aa": "Asn", "end_pos": 748, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn748", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 78, "start_aa": "Asn", "end_pos": 78, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn78", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 795, "start_aa": "Asn", "end_pos": 795, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn795", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 924, "start_aa": "Asn", "end_pos": 924, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn924", "evidence": [ { "id": "O60469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60469#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 1772, "end_pos": 1772, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60469" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr1772" }, { "start_pos": 627, "end_pos": 627, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60469" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Thr627" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion.", "journal": "Brain research. Molecular brain research", "date": "2000", "authors": "Agarwala KL, Nakamura S, Tsutsumi Y, Yamakawa K", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" }, { "database": "Reactome", "id": "R-HSA-376172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-376172" } ], "reference": [ { "type": "PubMed", "id": "10925149", "url": "https://glygen.org/publication/PubMed/10925149" } ] }, { "title": "Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Agarwala KL, Ganesh S, Tsutsumi Y, Suzuki T, Amano K, Yamakawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-376172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-376172" } ], "reference": [ { "type": "PubMed", "id": "11453658", "url": "https://glygen.org/publication/PubMed/11453658" } ] }, { "title": "DSCAM: an endogenous promoter drives expression in the developing CNS and neural crest.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Barlow GM, Lyons GE, Richardson JA, Sarnat HB, Korenberg JR", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" } ], "reference": [ { "type": "PubMed", "id": "12435380", "url": "https://glygen.org/publication/PubMed/12435380" } ] }, { "title": "The Down syndrome cell adhesion molecule (DSCAM) interacts with and activates Pak.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Li W, Guan KL", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" }, { "database": "Reactome", "id": "R-HSA-376172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-376172" } ], "reference": [ { "type": "PubMed", "id": "15169762", "url": "https://glygen.org/publication/PubMed/15169762" } ] }, { "title": "Structural basis of Dscam isoform specificity.", "journal": "Nature", "date": "2007", "authors": "Meijers R, Puettmann-Holgado R, Skiniotis G, Liu JH, Walz T, Wang JH, Schmucker D", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" } ], "reference": [ { "type": "PubMed", "id": "17721508", "url": "https://glygen.org/publication/PubMed/17721508" } ] }, { "title": "Dscam and Sidekick proteins direct lamina-specific synaptic connections in vertebrate retina.", "journal": "Nature", "date": "2008", "authors": "Yamagata M, Sanes JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-376172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-376172" } ], "reference": [ { "type": "PubMed", "id": "18216854", "url": "https://glygen.org/publication/PubMed/18216854" } ] }, { "title": "Neurite arborization and mosaic spacing in the mouse retina require DSCAM.", "journal": "Nature", "date": "2008", "authors": "Fuerst PG, Koizumi A, Masland RH, Burgess RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-376172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-376172" } ], "reference": [ { "type": "PubMed", "id": "18216855", "url": "https://glygen.org/publication/PubMed/18216855" } ] }, { "title": "DSCAM is a netrin receptor that collaborates with DCC in mediating turning responses to netrin-1.", "journal": "Cell", "date": "2008", "authors": "Ly A, Nikolaev A, Suresh G, Zheng Y, Tessier-Lavigne M, Stein E", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "reference": [ { "type": "PubMed", "id": "18585357", "url": "https://glygen.org/publication/PubMed/18585357" } ] }, { "title": "DSCAM functions as a netrin receptor in commissural axon pathfinding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Liu G, Li W, Wang L, Kar A, Guan KL, Rao Y, Wu JY", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "reference": [ { "type": "PubMed", "id": "19196994", "url": "https://glygen.org/publication/PubMed/19196994" } ] }, { "title": "Down syndrome cell adhesion molecule (DSCAM) associates with uncoordinated-5C (UNC5C) in netrin-1-mediated growth cone collapse.", "journal": "J. Biol. Chem.", "date": "2012", "authors": "Purohit AA, Li W, Qu C, Dwyer T, Shao Q, Guan KL, Liu G", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "reference": [ { "type": "PubMed", "id": "22685302", "url": "https://glygen.org/publication/PubMed/22685302" } ] }, { "title": "DSCAM/PAK1 pathway suppression reverses neurogenesis deficits in iPSC-derived cerebral organoids from patients with Down syndrome.", "journal": "The Journal of clinical investigation", "date": "2021", "authors": "Tang XY, Xu L, Wang J, Hong Y, Wang Y, Zhu Q, Wang D, Zhang XY, Liu CY, Fang KH, Han X, Wang S, Wang X, Xu M, Bhattacharyya A, Guo X, Lin M, Liu Y", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" } ], "reference": [ { "type": "PubMed", "id": "33945512", "url": "https://glygen.org/publication/PubMed/33945512" } ] }, { "title": "Dysfunction of NMDA receptors in neuronal models of an autism spectrum disorder patient with a DSCAM mutation and in Dscam-knockout mice.", "journal": "Molecular psychiatry", "date": "2021", "authors": "Lim CS, Kim MJ, Choi JE, Islam MA, Lee YK, Xiong Y, Shim KW, Yang JE, Lee RU, Lee J, Park P, Kwak JH, Seo H, Kim CH, Lee JH, Lee YS, Hwang SK, Lee K, Lee JA, Kaang BK", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" } ], "reference": [ { "type": "PubMed", "id": "34253863", "url": "https://glygen.org/publication/PubMed/34253863" } ] }, { "title": "Long non-coding RNA Down syndrome cell adhesion molecule-anti-sense 1 promotes gastric carcinoma cell proliferation and migration by regulating the miR-204/TPT1 axis.", "journal": "Human & experimental toxicology", "date": "2021", "authors": "Wang N, Yang Y, Jia GZ, Wang K, Zhou S, Zhang B, Zhang ZS, Qiao Q, He XL", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" } ], "reference": [ { "type": "PubMed", "id": "34372727", "url": "https://glygen.org/publication/PubMed/34372727" } ] }, { "title": "Role of DSCAM in the Development of Neural Control of Movement and Locomotion.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Lemieux M, Thiry L, Laflamme OD, Bretzner F", "evidence": [ { "database": "RefSeq", "id": "NP_001380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001380" } ], "reference": [ { "type": "PubMed", "id": "34445216", "url": "https://glygen.org/publication/PubMed/34445216" } ] }, { "title": "DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system.", "journal": "Hum. Mol. Genet.", "date": "1998", "authors": "Yamakawa K, Huot YK, Haendelt MA, Hubert R, Chen XN, Lyons GE, Korenberg JR", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "reference": [ { "type": "PubMed", "id": "9426258", "url": "https://glygen.org/publication/PubMed/9426258" } ] } ], "pathway": [ { "id": "hsa:1826", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1826", "resource": "KEGG Pathway" }, { "id": "R-HSA-376172", "name": "DSCAM interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-376172", "resource": "Reactome", "description": "DSCAM interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8VHZ8-1", "protein_name": "Cell adhesion molecule DSCAM", "gene_name": "Dscam", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MWILALSLFQSFANVFSEEPHSSLYFVNASLQEVVFASTSGTLVPCPAAGIPPVTLRWYLATGEEIYDVPGIRHVHPNGTLQIFPFPPSSFSTLIHDNTYYCTAENPSGKIRSQDVHIKAVLREPYTVRVEDQKTMRGNVAVFKCIIPSSVEAYVTVVSWEKDTVSLVSGSRFLITSTGALYIKDVQNEDGLYNYRCITRHRYTGETRQSNSARLFVSDPANSAPSILDGFDHRKAMAGQRVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENSRPSDSGSYVCEVSNRYGTAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGNEDQELSWYRNGEILNPGKNVRITGLNHANLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSPAEPVSLVCNVKGTPLPTVTWTLDDDPILKGSGHRISQMITSEGNVVSYLNISSSQVRDGGVYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHCRVIGYPYYSIKWYKNANLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQPFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPASLGVTIDNIDFTSSLRISNLSLMHNGNYTCIARNEAAAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPTIVWKFSKGAGVPQFQPIALNGRIQVLSNGSLLIKHVVEEDSGYYLCKVSNDVGADVSKSMYLTVKIPAMITSYPNTTLATQGQRKEMSCTAHGEKPIIVRWEKEDRIINPEMARYLVSTKEVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKARTITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRMYAKNRIGKSEPSNEITITADEAAPDGPPQEVHLEPTSSQSIRVTWKAPKKHLQNGIIRGYQIGYREYSTGGNFQFNIISIDTTGDSEVYTLDNLNKFTQYGLVVQACNRAGTGPSSQEIITTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFRVIYWANLIDGELGEIKNVTTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAASASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVWVVAVTSAGRGNSSEIITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWMKDSNGTPSLVTIDGRRSIFSNGSFVIRTVKAEDSGYYSCVANNNWGSDEIILNLQVQVPPDQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWGSFPISPSERSYRLENLKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWNDGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQANFATLNYDGSTIPPLIKSVVQSEEGLTTNEGLKILVTISCILVGVLLLFVLLLVVRRRRREQRLKRLRDAKSLAEMLMSKNTRTSDTLSKQQQTLRMHIDIPRAQLLIEERDTMETIDDRSTVLLTDADFGEAAKQKSLTVTHTVHYQSVSQATGPLVDVSDARPGTNPTTRRNAKAGPTARNRYASQWTLNRPHPTISAHTLTTDWRLPTPRATGSVDKESDSYSVSPSQDTDRARSSMVSTESASSTYEELARAYEHAKMEEQLRHAKFTITECFISDTSSEQLTAGTNEYTDSLTSSTPSESGICRFTASPPKPQDGGRVVNMAVPKAHRPGDLIHLPPYLRMDFLLNRGAPGTSRDLSLGQACLEPQKSRTLKRPTVLEPTPMEASSSTSSTREGQQSWQQGAVATLPQREGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV", "length": 2013 }, "evidence": [ { "id": "45922354", "url": "http://www.informatics.jax.org/homology/45922354", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9ERC8-1", "protein_name": "Cell adhesion molecule DSCAM", "gene_name": "Dscam", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MWILALSLFQSFANVFSEEPHSSLYFVNASLQEVVFASTSGTLVPCPAAGIPPVTLRWYLATGEEIYDVPGIRHVHPNGTLQIFPFPPSSFSTLIHDNTYYCTAENPSGKIRSQDVHIKAVLREPYTVRVEDQKTMRGNVAVFKCIIPSSVEAYVTVVSWEKDTVSLVSGSRFLITSTGALYIKDVQNEDGLYNYRCITRHRYTGETRQSNSARLFVSDPANSAPSILDGFDHRKAMAGQRVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENSRPSDSGSYVCEVSNRYGTAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGNEDQELSWYRNGEILNPGKNVRITGLNHANLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSPAEPVSLVCNVKGTPLPTVTWTLDDDPILKGSGHRISQMITSEGNVVSYLNISSSQVRDGGVYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHCRVIGYPYYSIKWYKNANLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQPFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPASLGVTIDNIDFTSSLRISNLSLMHNGNYTCIARNEAAAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPTIVWKFSKGAGVPQFQPIALNGRIQVLSNGSLLIKHVVEEDSGYYLCKVSNDVGADVSKSMYLTVKIPAMITSYPNTTLATQGQRKEMSCTAHGEKPIIVRWEKEDRIINPEMARYLVSTKEVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKARTITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRMYAKNRIGKSEPSNEITITADEAAPDGPPQEVHLEPTSSQSIRVTWKAPKKHLQNGIIRGYQIGYREYSTGGNFQFNIISIDTTGDSEVYTLDNLNKFTQYGLVVQACNRAGTGPSSQEIITTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFRVIYWANLIDGELGEIKNVTTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAASASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVWVVAVTSAGRGNSSEIITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWMKDSNGTPSLVTIDGRRSIFSNGSFIIRTVKAEDSGYYSCVANNNWGSDEIILNLQVQVPPDQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWGSFPISPSERSYRLENLKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWNDGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQANFATLNYDGSTIPPLIKSVVQSEEGLTTNEGLKILVTISCILVGVLLLFVLLLVVRRRRREQRLKRLRDAKSLAEMLMSKNTRTSDTLSKQQQTLRMHIDIPRAQLLIEERDTMETIDDRSTVLLTDADFGEAAKQKSLTVTHTVHYQSVSQATGPLVDVSDARPGTNPTTRRNAKAGPTARNRYASQWTLNRPHPTISAHTLTTDWRLPTPRATGSVDKESDSYSVSPSQDTDRARSSMVSTESASSTYEELARAYEHAKMEEQLRHAKFTITECFISDTSSEQLTAGTNEYTDSLTSSTPSESGICRFTASPPKPQDGGRVVNMAVPKAHRPGDLIHLPPYLRMDFLLNRGAPGTSRDLSLGQACLEPQKSRTLKRPTVLEPTPMEASSSTSSTREGQQSWQQGAVATLPQREGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV", "length": 2013 }, "evidence": [ { "id": "45922354", "url": "http://www.informatics.jax.org/homology/45922354", "database": "MGI" }, { "id": "O60469", "url": "https://omabrowser.org/oma/group/O60469/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O60469", "url": "https://www.uniprot.org/uniprot/O60469" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", 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