{ "uniprot_canonical_ac": "O94856-1", "uniprot_ac": "O94856", "uniprot_id": "NFASC_HUMAN", "mass": { "chemical_mass": 150027.0, "monoisotopic_mass": 150027.0 }, "refseq": { "ac": "NP_001005388", "name": "neurofascin isoform 1 precursor", "summary": "This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005388" }, "gene_names": [ { "name": "NFASC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94856", "id": "O94856" }, { "name": "KIAA0756", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94856", "id": "O94856" }, { "name": "NEDCPMD; NF; NRCAML", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005388", "id": "NP_001005388" }, { "name": "NFASC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005388", "id": "NP_001005388" } ], "protein_names": [ { "name": "Neurofascin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94856" }, { "name": "neurofascin homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005388", "id": "NP_001005388" }, { "name": "neurofascin isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005388", "id": "NP_001005388" } ], "function": [ { "annotation": "Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.", "evidence": [ { "database": "RefSeq", "id": "NP_001005388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005388" }, { "database": "PubMed", "id": "31945734", "url": "https://glygen.org/publication/PubMed/31945734" } ] }, { "annotation": "Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856#function" } ] }, { "annotation": "The results link biallelic variants in NFASC isoforms at glial cells to defects in the paranodal axoglial junctions and phenotypes that range from variable neurodevelopmental impairment to weakness, central hypomyelination, and peripheral chronic demyelinating neuropathy.", "evidence": [ { "database": "RefSeq", "id": "NP_001005388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005388" }, { "database": "PubMed", "id": "31501903", "url": "https://glygen.org/publication/PubMed/31501903" } ] }, { "annotation": "This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001005388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005388" } ] } ], "disease": [ { "disease_id": "MONDO:0032698", "recommended_name": { "id": "MONDO:0032698", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032698", "name": "neurodevelopmental disorder with central and peripheral motor dysfunction", "description": "" }, "synonyms": [ { "id": "MONDO:0032698", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032698", "name": "NEDCPMD", "description": "" }, { "id": "MONDO:0032698", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032698", "name": "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION", "description": "" }, { "id": "MIM:618356", "resource": "MIM", "url": "https://www.omim.org/entry/618356", "name": "Neurodevelopmental disorder with central and peripheral motor dysfunction", "description": "Neurodevelopmental disorder with central and peripheral motor dysfunction" } ], "evidence": [ { "id": "618356", "database": "MIM", "url": "https://www.omim.org/entry/618356" } ] } ], "snv": [ { "evidence": [ { "id": "rs769720134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769720134" }, { "id": "rs769720134", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769720134" }, { "id": "rs769720134", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769720134#frequency_tab" }, { "id": "rs769720134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769720134" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1030, "end_pos": 1030, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NES).", "chr_id": "1", "chr_pos": "204991303", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769720134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769720134" }, { "id": "rs769720134", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769720134" }, { "id": "rs769720134", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769720134#frequency_tab" }, { "id": "rs769720134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769720134" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1030, "end_pos": 1030, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "1", "chr_pos": "204991303", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374043011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374043011" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 124, "end_pos": 124, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKF->NKS).", "chr_id": "1", "chr_pos": "204954343", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770474742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770474742" }, { "id": "rs770474742", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770474742" }, { "id": "rs770474742", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770474742" }, { "id": "rs770474742", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770474742" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 132, "end_pos": 132, "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRI->NRT).", "chr_id": "1", "chr_pos": "205002713", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I132", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs137866492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137866492" }, { "id": "rs137866492", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs137866492" }, { "id": "rs137866492", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137866492" }, { "id": "rs137866492", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137866492#frequency_tab" }, { "id": "rs137866492", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137866492" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 483, "end_pos": 483, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->KGS).", "chr_id": "1", "chr_pos": "204974681", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N483", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748094301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748094301" }, { "id": "rs748094301", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748094301" }, { "id": "rs748094301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748094301" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 483, "end_pos": 483, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "1", "chr_pos": "204974680", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N483", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769904507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769904507" }, { "id": "rs769904507", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769904507" }, { "id": "rs769904507", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769904507" }, { "id": "rs769904507", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769904507#frequency_tab" }, { "id": "rs769904507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769904507" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 85, "end_pos": 85, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "1", "chr_pos": "204954225", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A85", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "60.27", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "83.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "68.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "77.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "76.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "85.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94856", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94856" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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", 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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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"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, 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"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 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"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", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O94856", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94856" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94856", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94856" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O94856", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94856" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O94856", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94856" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "common_name": "Human" } ], "gene": [ { "name": "NFASC", "url": "https://www.uniprot.org/uniprot/O94856", "locus": { "chromosome": "1", "start_pos": 205022822, "end_pos": 204828651, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000163531", "url": "https://www.ensembl.org/id/ENSG00000163531" } ] } } ], "crossref": [ { "id": "ENSG00000163531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163531", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd05731", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05731", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd05845", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05845", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd05875", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05875", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "NFASC", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "23114", "url": "https://www.ncbi.nlm.nih.gov/gene/23114", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1552", "url": "https://glyconnect.expasy.org/browser/proteins/1552", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "29866", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29866", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O94856", "url": "https://www.ebi.ac.uk/intact/interactors/id:O94856*", "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": "IPR013151", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013151", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR026965", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026965", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR026966", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026966", "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": "hsa:23114", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23114", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "609145", "url": "http://www.omim.org/entry/609145", "database": "MIM", "categories": [ "Other" ] }, { "id": "618356", "url": "http://www.omim.org/entry/618356", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94856", "url": "https://www.nextprot.org/entry/NX_O94856", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O94856", "url": "https://oglcnac.org/atlas/detail/O94856", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O94856", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94856", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "NHSSYPG", "url": "https://omabrowser.org/oma/group/NHSSYPG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2912783at2759", "url": "http://www.orthodb.org/?query=2912783at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15549", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15549", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR44170", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44170", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR44170:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44170:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3P3Y", "url": "https://www.rcsb.org/structure/3P3Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3P40", "url": "https://www.rcsb.org/structure/3P40", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00041", "url": "http://pfam.xfam.org/family/PF00041", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00047", "url": "http://pfam.xfam.org/family/PF00047", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07679", "url": "http://pfam.xfam.org/family/PF07679", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13882", "url": "http://pfam.xfam.org/family/PF13882", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13927", "url": "http://pfam.xfam.org/family/PF13927", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94856", "url": "https://pharos.nih.gov/targets/O94856", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94856", "url": "http://purl.obolibrary.org/obo/PR_O94856", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-447043", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447043", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001005388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005388", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O94856", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0C4DG92", "url": "https://www.uniprot.org/uniprot/A0A0C4DG92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DG92-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DG92-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z4R6", "url": "https://www.uniprot.org/uniprot/A0A7P0Z4R6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z4R6-1", "url": "https://www.uniprot.org/uniprot/A0A7P0Z4R6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBU5", "url": "https://www.uniprot.org/uniprot/D6RBU5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBU5-1", "url": "https://www.uniprot.org/uniprot/D6RBU5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RHX4", "url": "https://www.uniprot.org/uniprot/D6RHX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RHX4-1", "url": "https://www.uniprot.org/uniprot/D6RHX4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BY57", "url": "https://www.uniprot.org/uniprot/H7BY57", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BY57-1", "url": "https://www.uniprot.org/uniprot/H7BY57-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C073", "url": "https://www.uniprot.org/uniprot/H7C073", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C073-1", "url": "https://www.uniprot.org/uniprot/H7C073-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0L6", "url": "https://www.uniprot.org/uniprot/H7C0L6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0L6-1", "url": "https://www.uniprot.org/uniprot/H7C0L6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-1", "url": "https://www.uniprot.org/uniprot/O94856-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-10", "url": "https://www.uniprot.org/uniprot/O94856-10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-11", "url": "https://www.uniprot.org/uniprot/O94856-11", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-12", "url": "https://www.uniprot.org/uniprot/O94856-12", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-13", "url": "https://www.uniprot.org/uniprot/O94856-13", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-2", "url": "https://www.uniprot.org/uniprot/O94856-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-3", "url": "https://www.uniprot.org/uniprot/O94856-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-4", "url": "https://www.uniprot.org/uniprot/O94856-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-5", "url": "https://www.uniprot.org/uniprot/O94856-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-6", "url": "https://www.uniprot.org/uniprot/O94856-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-7", "url": "https://www.uniprot.org/uniprot/O94856-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-8", "url": "https://www.uniprot.org/uniprot/O94856-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94856-9", "url": "https://www.uniprot.org/uniprot/O94856-9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RKN2", "url": "https://www.uniprot.org/uniprot/X6RKN2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RKN2-1", "url": "https://www.uniprot.org/uniprot/X6RKN2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1347, "header": "sp|O94856-1|NFASC_HUMAN Isoform 1 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DG92-1", "url": "", "sequence": { "sequence": "PPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 218, "header": "tr|A0A0C4DG92-1|NFASC_HUMAN Computationally mapped isoform of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=1 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 205016536, "end_pos": 204997184, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447819.1", "url": "https://www.ensembl.org/id/ENST00000447819.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000416891.1", "url": "https://www.ensembl.org/id/ENSP00000416891.1" } ] } }, { "isoform_ac": "A0A7P0Z4R6-1", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDLTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTNHPYNDSSLRNHPDMYSARGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLGNCPCSPWH", "length": 630, "header": "tr|A0A7P0Z4R6-1|NFASC_HUMAN Computationally mapped isoform of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=1 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 204976821, "end_pos": 204944316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680427.1", "url": "https://www.ensembl.org/id/ENST00000680427.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506661.1", "url": "https://www.ensembl.org/id/ENSP00000506661.1" } ] } }, { "isoform_ac": "D6RBU5-1", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTNHPYNDSSLRNHPDMYSARGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRCPHGLS", "length": 486, "header": "tr|D6RBU5-1|NFASC_HUMAN Computationally mapped isoform of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=1 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 204974583, "end_pos": 204944316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000504476.5", "url": "https://www.ensembl.org/id/ENST00000504476.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422524.1", "url": "https://www.ensembl.org/id/ENSP00000422524.1" } ] } }, { "isoform_ac": "D6RHX4-1", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALS", "length": 129, "header": "tr|D6RHX4-1|NFASC_HUMAN Computationally mapped isoform of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=1 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 204954359, "end_pos": 204944316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505079.5", "url": "https://www.ensembl.org/id/ENST00000505079.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427586.1", "url": "https://www.ensembl.org/id/ENSP00000427586.1" } ] } }, { "isoform_ac": "H7BY57-1", "url": "", "sequence": { "sequence": "XSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDLPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1041, "header": "tr|H7BY57-1|NFASC_HUMAN Computationally mapped isoform of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=1 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 205016537, "end_pos": 204950557, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367173.7", "url": "https://www.ensembl.org/id/ENST00000367173.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000356141.3", "url": "https://www.ensembl.org/id/ENSP00000356141.3" } ] } }, { "isoform_ac": "H7C073-1", "url": "", "sequence": { "sequence": "XENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDS", "length": 237, "header": "tr|H7C073-1|NFASC_HUMAN Computationally mapped isoform of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=1 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 205016386, "end_pos": 204988664, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413225.5", "url": "https://www.ensembl.org/id/ENST00000413225.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000393290.1", "url": "https://www.ensembl.org/id/ENSP00000393290.1" } ] } }, { "isoform_ac": "H7C0L6-1", "url": "", "sequence": { "sequence": "XRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDLPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 298, "header": "tr|H7C0L6-1|NFASC_HUMAN Computationally mapped isoform of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=1 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 205016537, "end_pos": 204981856, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425360.5", "url": "https://www.ensembl.org/id/ENST00000425360.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000395664.1", "url": "https://www.ensembl.org/id/ENSP00000395664.1" } ] } }, { "isoform_ac": "O94856-1", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1347, "header": "sp|O94856-1|NFASC_HUMAN Isoform 1 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": {} }, { "isoform_ac": "O94856-10", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDLTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1157, "header": "sp|O94856-10|NFASC_HUMAN Isoform 10 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 205016536, "end_pos": 204944316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404076.5", "url": "https://www.ensembl.org/id/ENST00000404076.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385676.1", "url": "https://www.ensembl.org/id/ENSP00000385676.1" } ] } }, { "isoform_ac": "O94856-11", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDLTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTNHPYNDSSLRNHPDMYSARGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1189, "header": "sp|O94856-11|NFASC_HUMAN Isoform 11 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 205016536, "end_pos": 204944316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539706.6", "url": "https://www.ensembl.org/id/ENST00000539706.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000438614.2", "url": "https://www.ensembl.org/id/ENSP00000438614.2" } ] } }, { "isoform_ac": "O94856-12", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDLPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1071, "header": "sp|O94856-12|NFASC_HUMAN Isoform 12 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": {} }, { "isoform_ac": "O94856-13", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1268, "header": "sp|O94856-13|NFASC_HUMAN Isoform 13 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": {} }, { "isoform_ac": "O94856-2", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLGNCPCSPWH", "length": 619, "header": "sp|O94856-2|NFASC_HUMAN Isoform 2 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 204976821, "end_pos": 204944316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000403080.5", "url": "https://www.ensembl.org/id/ENST00000403080.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000384875.1", "url": "https://www.ensembl.org/id/ENSP00000384875.1" } ] } }, { "isoform_ac": "O94856-3", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDLTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTNHPYNDSSLRNHPDMYSARGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1169, "header": "sp|O94856-3|NFASC_HUMAN Isoform 3 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 205016536, "end_pos": 204944316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513543.6", "url": "https://www.ensembl.org/id/ENST00000513543.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000425908.1", "url": "https://www.ensembl.org/id/ENSP00000425908.1" } ] } }, { "isoform_ac": "O94856-4", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDLPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1066, "header": "sp|O94856-4|NFASC_HUMAN Isoform 4 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": {} }, { "isoform_ac": "O94856-5", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEGRCMAAAPGVKGPSVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1332, "header": "sp|O94856-5|NFASC_HUMAN Isoform 5 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": {} }, { "isoform_ac": "O94856-6", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEGNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1224, "header": "sp|O94856-6|NFASC_HUMAN Isoform 6 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": {} }, { "isoform_ac": "O94856-7", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1257, "header": "sp|O94856-7|NFASC_HUMAN Isoform 7 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": {} }, { "isoform_ac": "O94856-8", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDLTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTNHPYNDSSLRNHPDMYSARGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1174, "header": "sp|O94856-8|NFASC_HUMAN Isoform 8 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": {} }, { "isoform_ac": "O94856-9", "url": "", "sequence": { "sequence": "MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDLPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1240, "header": "sp|O94856-9|NFASC_HUMAN Isoform 9 of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=4 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 205016536, "end_pos": 204944316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000401399.5", "url": "https://www.ensembl.org/id/ENST00000401399.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385637.1", "url": "https://www.ensembl.org/id/ENSP00000385637.1" } ] } }, { "isoform_ac": "X6RKN2-1", "url": "", "sequence": { "sequence": "IEIPMDLTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTNHPYNDSSLRNHPDMYSARGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1165, "header": "tr|X6RKN2-1|NFASC_HUMAN Computationally mapped isoform of Neurofascin OS=Homo sapiens OX=9606 GN=NFASC PE=1 SV=1 CANONICAL=O94856-1" }, "locus": { "chromosome": "1", "start_pos": 205016536, "end_pos": 204944316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430393", "url": "https://www.ensembl.org/id/ENST00000430393" }, { "database": "Ensembl Peptide", "id": "ENSP00000415031", "url": "https://www.ensembl.org/id/ENSP00000415031" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 305, "start_aa": "Asn", "end_pos": 305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn305", "evidence": [ { "id": "1552", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1552" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 305, "start_aa": "Asn", "end_pos": 305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn305", "evidence": [ { "id": "O94856", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94856#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 367, "start_aa": "Thr", "end_pos": 367, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr367", "evidence": [ { "id": "O94856", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94856" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 379, "start_aa": "Ser", "end_pos": 379, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser379", "evidence": [ { "id": "O94856", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94856" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 398, "start_aa": "Thr", "end_pos": 398, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr398", "evidence": [ { "id": "O94856", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94856" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 409, "start_aa": "Asn", "end_pos": 409, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn409", "evidence": [ { "id": "O94856", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94856#ptm_processing" }, { "id": "21047790", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21047790" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": 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Biol.", "date": "2004", "authors": "Homma K, Kikuno RF, Nagase T, Ohara O, Nishikawa K", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "reference": [ { "type": "PubMed", "id": "15491607", "url": "https://glygen.org/publication/PubMed/15491607" } ] }, { "title": "MAP kinase pathway-dependent phosphorylation of the L1-CAM ankyrin binding site regulates neuronal growth.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Whittard JD, Sakurai T, Cassella MR, Gazdoiu M, Felsenfeld DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "16597699", "url": "https://glygen.org/publication/PubMed/16597699" } ] }, { "title": "Phosphorylation of L1-type cell-adhesion molecules--ankyrins away!", "journal": "Trends in biochemical sciences", "date": "2006", "authors": "Nagaraj K, Hortsch M", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "16904324", "url": "https://glygen.org/publication/PubMed/16904324" } ] }, { "title": "betaIV-spectrin forms a diffusion barrier against L1CAM at the axon initial segment.", "journal": "Molecular and cellular neurosciences", "date": "2007", "authors": "Nishimura K, Akiyama H, Komada M, Kamiguchi H", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "17223356", "url": "https://glygen.org/publication/PubMed/17223356" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" }, { "database": "iPTMnet", "id": "O94856", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94856" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Liu H, Focia PJ, He X", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856#ptm_processing" }, { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "reference": [ { "type": "PubMed", "id": "21047790", "url": "https://glygen.org/publication/PubMed/21047790" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O94856", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Myocilin mediates myelination in the peripheral nervous system through ErbB2/3 signaling.", "journal": "J. 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Chem.", "date": "2013", "authors": "Kwon Heung Sun, Johnson Thomas V, Joe Myung Kuk, Abu-Asab Mones, Zhang Jun, Chan Chi Chao, Tomarev Stanislav I", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "reference": [ { "type": "PubMed", "id": "23897819", "url": "https://glygen.org/publication/PubMed/23897819" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Labasque M, Hivert B, Nogales-Gadea G, Querol L, Illa I, Faivre-Sarrailh C", "evidence": [ { "database": "Automatic Literature Mining", "id": "24497634", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/24497634" } ], "reference": [ { "type": "PubMed", "id": "24497634", "url": "https://glygen.org/publication/PubMed/24497634" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O94856", "url": "https://oglcnac.org/atlas/detail/O94856" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Expanding the genetic heterogeneity of intellectual disability.", "journal": "Human genetics", "date": "2017", "authors": "Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "reference": [ { "type": "PubMed", "id": "28940097", "url": "https://glygen.org/publication/PubMed/28940097" } ] }, { "title": "Correction to: Expanding the genetic heterogeneity of intellectual disability.", "journal": "Hum. 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"MARQQAPPWVHIALILFLLSLGGAIEIPMDPSIQNELTQPPTITKQSVKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTSSSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSNKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSARNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVAKRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCMASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDDNNSPITDYVVQFEEDQFQPGVWHDHSRFPGSVNSAVLHLSPYVNYQFRVIAVNEVGSSHPSLPSERYRTSGAPPESNPSDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETRETWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPDTIIGYSGEDLPSAPRRFRVRQPNLETINLEWDHPEHPNGILIGYILRYVPFNGTKLGKQMVENFSPNQTKFSVQRADPVSRYRFSLSARTQVGSGEAATEESPAPPNEATPTAAPPTLPPTTVGTTGLVSSTDATALAATSEATTVPIIPTVVPTTVATTIATTTTTTAATTTTTTTESPPTTTAGTKIHETAPDEQSIWNVTVLPNSKWANITWKHNFRPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLFPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA", "length": 1240 }, "evidence": [ { "id": "45922973", "url": "http://www.informatics.jax.org/homology/45922973", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "ficolin-1-rich granule membrane", "id": "GO:0101003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101003", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "paranodal junction", "id": "GO:0033010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033010", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "node of Ranvier", "id": "GO:0033268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033268", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "axon initial segment", "id": "GO:0043194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043194", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "cell-cell adhesion mediator activity", "id": "GO:0098632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098632", "evidence": [ { "database": "UniProtKB", "id": "O94856", "url": "https://www.uniprot.org/uniprot/O94856" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1122, "end_pos": 1124, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1133, "end_pos": 1135, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1154, "end_pos": 1156, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1331, "end_pos": 1333, "annotation": "n_glycosylation_sequon" }, { "start_pos": 305, "end_pos": 307, "annotation": "n_glycosylation_sequon" }, { "start_pos": 409, "end_pos": 411, "annotation": "n_glycosylation_sequon" }, { "start_pos": 446, "end_pos": 448, "annotation": "n_glycosylation_sequon" }, { "start_pos": 483, "end_pos": 485, "annotation": "n_glycosylation_sequon" }, { "start_pos": 654, "end_pos": 656, "annotation": "n_glycosylation_sequon" }, { "start_pos": 752, "end_pos": 754, "annotation": "n_glycosylation_sequon" }, { "start_pos": 778, "end_pos": 780, "annotation": "n_glycosylation_sequon" }, { "start_pos": 838, "end_pos": 840, "annotation": "n_glycosylation_sequon" }, { "start_pos": 973, "end_pos": 975, "annotation": "n_glycosylation_sequon" }, { "start_pos": 984, "end_pos": 986, "annotation": "n_glycosylation_sequon" }, { "start_pos": 988, "end_pos": 990, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 305, 409, 446, 467, 483, 752, 778, 973, 984, 988 ], "o_linked_sites": [ 367, 379, 398, 605, 975 ], "snv_sites": [ 85, 124, 132, 483, 1030 ], "glycation_sites": [], "phosphorylation_sites": [ 471, 481, 485, 1267, 1281, 1294, 1297, 1319, 1333, 1334, 1338 ], "sequon_annotation_sites": [ { "start_pos": 1122, "end_pos": 1124 }, { "start_pos": 1133, "end_pos": 1135 }, { "start_pos": 1154, "end_pos": 1156 }, { "start_pos": 1331, "end_pos": 1333 }, { "start_pos": 305, "end_pos": 307 }, { "start_pos": 409, "end_pos": 411 }, { "start_pos": 446, "end_pos": 448 }, { "start_pos": 483, "end_pos": 485 }, { "start_pos": 654, "end_pos": 656 }, { "start_pos": 752, "end_pos": 754 }, { "start_pos": 778, "end_pos": 780 }, { "start_pos": 838, "end_pos": 840 }, { "start_pos": 973, "end_pos": 975 }, { "start_pos": 984, "end_pos": 986 }, { "start_pos": 988, "end_pos": 990 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 38 }, { "field": "total_sites", "count": 15 }, { "field": "n_linked_glycans", "count": 15 }, { "field": "n_linked_glycan_sites", "count": 16 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "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": 7 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "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_with_glycan", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 15 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "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_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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": "phosphorylation", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 } ], "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": 7 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 29 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }