{ "uniprot_canonical_ac": "O60245-1", "uniprot_ac": "O60245", "uniprot_id": "PCDH7_HUMAN", "mass": { "chemical_mass": 116071.0, "monoisotopic_mass": 116071.0 }, "refseq": { "ac": "NP_002580", "name": "protocadherin-7 isoform a precursor", "summary": "This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580" }, "gene_names": [ { "name": "PCDH7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60245", "id": "O60245" }, { "name": "BH-Pcdh; BHPCDH; PPP1R120", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580", "id": "NP_002580" }, { "name": "BHPCDH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60245", "id": "O60245" }, { "name": "PCDH7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580", "id": "NP_002580" } ], "protein_names": [ { "name": "Protocadherin-7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60245" }, { "name": "BH-Pcdh", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60245" }, { "name": "Brain-heart protocadherin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60245" }, { "name": "brain-heart protocadherin; BH-protocadherin (brain-heart); protein phosphatase 1, regulatory subunit 120", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580", "id": "NP_002580" }, { "name": "protocadherin-7 isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580", "id": "NP_002580" } ], "function": [ { "annotation": "Authors demonstrated that enforced PCDH7 expression significantly accelerates Kras(G12D) -driven lung tumorigenesis and potentiates MAPK pathway activation.", "evidence": [ { "database": "RefSeq", "id": "NP_002580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580" }, { "database": "PubMed", "id": "30409919", "url": "https://glygen.org/publication/PubMed/30409919" } ] }, { "annotation": "Effect of aberrantly methylated androgen receptor target gene PCDH7 on the development of androgen-independent prostate cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_002580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580" }, { "database": "PubMed", "id": "31872382", "url": "https://glygen.org/publication/PubMed/31872382" } ] }, { "annotation": "PCDH7 knockdown potentiates colon cancer cells to chemotherapy via inducing ferroptosis and changes in autophagy through restraining MEK1/2/ERK/c-Fos axis.", "evidence": [ { "database": "RefSeq", "id": "NP_002580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580" }, { "database": "PubMed", "id": "35926236", "url": "https://glygen.org/publication/PubMed/35926236" } ] }, { "annotation": "Protocadherin 7 may play important roles in the invasion and metastasis of gastric cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580" }, { "database": "PubMed", "id": "28381163", "url": "https://glygen.org/publication/PubMed/28381163" } ] }, { "annotation": "This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580" } ] }, { "annotation": "We report that the PROTOCADHERIN PCDH7 is overexpressed frequently in Non-small cell lung cancer tumors where this event is associated with poor clinical outcome", "evidence": [ { "database": "RefSeq", "id": "NP_002580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580" }, { "database": "PubMed", "id": "27821484", "url": "https://glygen.org/publication/PubMed/27821484" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs376843657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376843657" }, { "id": "rs376843657", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376843657" }, { "id": "rs376843657", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376843657#frequency_tab" }, { "id": "rs376843657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376843657" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1054, "end_pos": 1054, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "4", "chr_pos": "30724584", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756824608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756824608" }, { "id": "rs756824608", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756824608" }, { "id": "rs756824608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756824608" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 304, "end_pos": 304, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "4", "chr_pos": "30722333", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772121609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772121609" }, { "id": "rs772121609", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772121609" }, { "id": "rs772121609", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772121609" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 322, "end_pos": 322, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NSS).", "chr_id": "4", "chr_pos": "30722386", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482709746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482709746" }, { "id": "rs1482709746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482709746" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 413, "end_pos": 413, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "4", "chr_pos": "30722659", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762262450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762262450" }, { "id": "rs762262450", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762262450" }, { "id": "rs762262450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762262450#frequency_tab" }, { "id": "rs762262450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762262450" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 433, "end_pos": 433, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "4", "chr_pos": "30722719", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A433", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762262450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762262450" }, { "id": "rs762262450", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762262450" }, { "id": "rs762262450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762262450#frequency_tab" }, { "id": "rs762262450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762262450" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 433, "end_pos": 433, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "4", "chr_pos": "30722719", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A433", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60245", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60245" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 474, "end_pos": 474, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SDT->NDT).", "chr_id": "4", "chr_pos": "30722843", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S474", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": 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"evidence": [ { "id": "rs1484044851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484044851" }, { "id": "rs1484044851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484044851" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 531, "end_pos": 531, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "4", "chr_pos": "30723014", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772233756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772233756" }, { "id": "rs772233756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772233756" }, { "id": "rs772233756", "database": "gnomAD", "url": 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"disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": 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"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 kinase inhibitor in, 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60245" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60245", "url": "https://www.uniprot.org/uniprot/O60245" } ], "common_name": "Human" } ], "gene": [ { "name": "PCDH7", "url": "https://www.uniprot.org/uniprot/O60245", "locus": { "chromosome": "4", "start_pos": 31146805, "end_pos": 30720369, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000169851", "url": "https://www.ensembl.org/id/ENSG00000169851" } ] } } ], "crossref": [ { "id": "ENSG00000169851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169851", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60245", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60245", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd11304", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11304", "database": "CDD", 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015919", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015919", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020894", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020894", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5099", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5099", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602988", "url": "http://www.omim.org/entry/602988", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60245", "url": "https://www.nextprot.org/entry/NX_O60245", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60245", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60245", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "AFDREHQ", "url": "https://omabrowser.org/oma/group/AFDREHQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5353710at2759", "url": "http://www.orthodb.org/?query=5353710at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24028", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24028", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24028:SF253", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24028:SF253", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2YST", "url": "https://www.rcsb.org/structure/2YST", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00028", "url": "http://pfam.xfam.org/family/PF00028", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08266", "url": "http://pfam.xfam.org/family/PF08266", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08374", "url": "http://pfam.xfam.org/family/PF08374", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60245", "url": "https://pharos.nih.gov/targets/O60245", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60245", "url": "http://purl.obolibrary.org/obo/PR_O60245", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013026", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013026", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087X0C9", "url": "https://www.uniprot.org/uniprot/A0A087X0C9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X0C9-1", "url": "https://www.uniprot.org/uniprot/A0A087X0C9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X2C4", "url": "https://www.uniprot.org/uniprot/A0A087X2C4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X2C4-1", "url": "https://www.uniprot.org/uniprot/A0A087X2C4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI47", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI47", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI47-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI47-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI70", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI70", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI70-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI70-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI92", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI92-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI92-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIA5", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIA5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIA5-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIA5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TM73", "url": "https://www.uniprot.org/uniprot/A0A8V8TM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TM73-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TM73-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60245", "url": "https://www.uniprot.org/uniprot/O60245", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60245-1", "url": "https://www.uniprot.org/uniprot/O60245-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60245-2", "url": "https://www.uniprot.org/uniprot/O60245-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQMRLHPYITVFG", "length": 1069, "header": "sp|O60245-1|PCDH7_HUMAN Isoform 1 of Protocadherin-7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=2 CANONICAL=O60245-1" }, "isoforms": [ { "isoform_ac": "A0A087X0C9-1", "url": "", "sequence": { "sequence": "XNISIGSDHCSEYSCQTNNKYSKQPFRRVTFSVVSQPQDPHQGSLQSCYDSGLEESETPSSKSSSGPRLGALPLPEDNYERTTPDGSVGEAEHMENGVAAITTFPFLPFPHGKTHGRRVLLRPLH", "length": 125, "header": "tr|A0A087X0C9-1|PCDH7_HUMAN Computationally mapped isoform of Protocadherin-7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=1 CANONICAL=O60245-1" }, "locus": { "chromosome": "4", "start_pos": 30950207, "end_pos": 30724527, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509759.2", "url": "https://www.ensembl.org/id/ENST00000509759.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000483285.1", "url": "https://www.ensembl.org/id/ENSP00000483285.1" } ] } }, { "isoform_ac": "A0A087X2C4-1", "url": "", "sequence": { "sequence": "MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQLVMENNVLILDSFCQIAQKYHKPFRRVTFSVVSQPQDPHQGSLQSCYDSGLEESETPSSKSSSGPRLGALPLPEDNYERTTPDGSVDSRPLPDVALTGKCTRECDEYGHSDSCWMPVRTSPERKKSQPKLSTFMPVDERGSQEKLANGEAAIMGDRNRNLLNKKLTSSYETFSAASFSKNEEANPEDIPLTKTGEYKPSPVNTLTRREVYL", "length": 1269, "header": "tr|A0A087X2C4-1|PCDH7_HUMAN Computationally mapped isoform of Protocadherin-7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=2 CANONICAL=O60245-1" }, "locus": { "chromosome": "4", "start_pos": 31142846, "end_pos": 30721423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621961.2", "url": "https://www.ensembl.org/id/ENST00000621961.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000484874.2", "url": "https://www.ensembl.org/id/ENSP00000484874.2" } ] } }, { "isoform_ac": "A0A8Q3SI47-1", "url": "", "sequence": { "sequence": "MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQPFRRVTFSVVSQPQDPHQGSLQSCYDSGLEESETPSSAAPFQGTADSRPLPDVALTGKCTRECDEYGHSDSCWMPVRTSPERKKSQPKLSTFMPVDERGSQEKLANGEAAIMGDRNRNLLNKKLTSSYETFSAASFSKNEEANPEDIPLTKTGEYKPSPVNTLTRREVYL", "length": 1228, "header": "tr|A0A8Q3SI47-1|A0A8Q3SI47_HUMAN Computationally mapped isoform of Protocadherin 7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=2 CANONICAL=O60245-1" }, "locus": { "chromosome": "4", "start_pos": 31142846, "end_pos": 30721423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695922.1", "url": "https://www.ensembl.org/id/ENST00000695922.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512269.2", "url": "https://www.ensembl.org/id/ENSP00000512269.2" } ] } }, { "isoform_ac": "A0A8Q3SI70-1", "url": "", "sequence": { "sequence": "MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQPFRRVTFSVVSQPQDPHQGSLQSCYDSGLEESETPSSKSSSGPRLGALPLPEDNYERTTPDGSVGEAEHMENDSRPLPDVALTGKCTRECDEYGHSDSCWMPVRTSPERKKSQPKLSTFMPVDERGSQEKLANGEAAIMGDRNRNLLNKKLTSSYETFSAASFSKNEEANPEDIPLTKTGEYKPSPVNTLTRREVYL", "length": 1255, "header": "tr|A0A8Q3SI70-1|PCDH7_HUMAN Computationally mapped isoform of Protocadherin-7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=1 CANONICAL=O60245-1" }, "locus": { "chromosome": "4", "start_pos": 31142846, "end_pos": 30721423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695919.1", "url": "https://www.ensembl.org/id/ENST00000695919.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512266.1", "url": "https://www.ensembl.org/id/ENSP00000512266.1" } ] } }, { "isoform_ac": "A0A8Q3SI92-1", "url": "", "sequence": { "sequence": "MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQPFRRVTFSVVSQPQDPHQGSLQSCYDSGLEESETPSNSRPLPDVALTGKCTRECDEYGHSDSCWMPVRTSPERKKSQPKLSTFMPVDERGSQEKLANGEAAIMGDRNRNLLNKKLTSSYETFSAASFSKNEEANPEDIPLTKTGEYKPSPVNTLTRREVYL", "length": 1219, "header": "tr|A0A8Q3SI92-1|PCDH7_HUMAN Computationally mapped isoform of Protocadherin-7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=1 CANONICAL=O60245-1" }, "locus": { "chromosome": "4", "start_pos": 31142846, "end_pos": 30721423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695920.1", "url": "https://www.ensembl.org/id/ENST00000695920.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512267.1", "url": "https://www.ensembl.org/id/ENSP00000512267.1" } ] } }, { "isoform_ac": "A0A8Q3SIA5-1", "url": "", "sequence": { "sequence": "MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQIQGLFQM", "length": 1065, "header": "tr|A0A8Q3SIA5-1|A0A8Q3SIA5_HUMAN Computationally mapped isoform of Protocadherin 7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=1 CANONICAL=O60245-1" }, "locus": { "chromosome": "4", "start_pos": 31142493, "end_pos": 30721423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695921.1", "url": "https://www.ensembl.org/id/ENST00000695921.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512268.1", "url": "https://www.ensembl.org/id/ENSP00000512268.1" } ] } }, { "isoform_ac": "A0A8V8TM73-1", "url": "", "sequence": { "sequence": "MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQPFRRVTFSVVSQPQDPHQGSLQSCYDSGLEESETPSSKSSSGPRLGALPLPEDNYERTTPDGSVDSRPLPDVALTGKCTRECDEYGHSDSCWMPVRTSPERKKSQPKLSTFMPVDERGSQEKLANGEAAIMGDRNRNLLNKKLTSSYETFSAASFSKNEEANPEDIPLTKTGEYKPSPVNTLTRREVYL", "length": 1247, "header": "tr|A0A8V8TM73-1|PCDH7_HUMAN Computationally mapped isoform of Protocadherin-7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=1 CANONICAL=O60245-1" }, "locus": { "chromosome": "4", "start_pos": 31142846, "end_pos": 30721423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511884.7", "url": "https://www.ensembl.org/id/ENST00000511884.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000513121.1", "url": "https://www.ensembl.org/id/ENSP00000513121.1" } ] } }, { "isoform_ac": "O60245-1", "url": "", "sequence": { "sequence": "MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQMRLHPYITVFG", "length": 1069, "header": "sp|O60245-1|PCDH7_HUMAN Isoform 1 of Protocadherin-7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=2 CANONICAL=O60245-1" }, "locus": { "chromosome": "4", "start_pos": 30730785, "end_pos": 30721423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361762.3", "url": "https://www.ensembl.org/id/ENST00000361762.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000355243.2", "url": "https://www.ensembl.org/id/ENSP00000355243.2" } ] } }, { "isoform_ac": "O60245-2", "url": "", "sequence": { "sequence": "MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQVRCIPNIFKYPREG", "length": 1072, "header": "sp|O60245-2|PCDH7_HUMAN Isoform 2 of Protocadherin-7 OS=Homo sapiens OX=9606 GN=PCDH7 PE=1 SV=2 CANONICAL=O60245-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 689, "start_aa": "Asn", "end_pos": 689, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn689", "evidence": [ { "id": "O60245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60245#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 747, "start_aa": "Asn", "end_pos": 747, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn747", "evidence": [ { "id": "O60245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60245#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": 751, "start_aa": "Thr", "end_pos": 751, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr751", "evidence": [ { "id": "O60245", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60245" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 756, "start_aa": "Ser", "end_pos": 756, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser756", "evidence": [ { "id": "O60245", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60245" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 780, "start_aa": "Asn", "end_pos": 780, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn780", "evidence": [ { "id": "O60245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60245#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 79, "start_aa": "Asn", "end_pos": 79, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn79", "evidence": [ { "id": "O60245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60245#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 822, "start_aa": "Asn", "end_pos": 822, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn822", "evidence": [ { "id": "O60245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60245#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 840, "start_aa": "Asn", "end_pos": 840, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn840", "evidence": [ { "id": "O60245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60245#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 845, "start_aa": "Asn", "end_pos": 845, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn845", "evidence": [ { "id": "O60245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60245#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 1000, "end_pos": 1000, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60245", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60245" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", 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GTPases in Vav3-induced cell transformation, cell motility, and morphological changes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Sachdev P, Zeng L, Wang LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "11884391", "url": "https://glygen.org/publication/PubMed/11884391" } ] }, { "title": "Nucleotide exchange factor GEF-H1 mediates cross-talk between microtubules and the actin cytoskeleton.", "journal": "Nature cell biology", "date": "2002", "authors": "Krendel M, Zenke FT, Bokoch GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "11912491", "url": "https://glygen.org/publication/PubMed/11912491" } ] }, { "title": "A mammalian Rho-specific guanine-nucleotide exchange factor (p164-RhoGEF) without a pleckstrin homology domain.", "journal": "The Biochemical journal", "date": "2002", "authors": "Rumenapp U, Freichel-Blomquist A, Wittinghofer B, Jakobs KH, Wieland T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "12071859", "url": "https://glygen.org/publication/PubMed/12071859" } ] }, { "title": "A novel Rho GTPase-activating-protein interacts with Gem, a member of the Ras superfamily of GTPases.", "journal": "The Biochemical journal", "date": "2002", "authors": "Aresta S, de Tand-Heim MF, Beranger F, de Gunzburg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "12093360", "url": "https://glygen.org/publication/PubMed/12093360" } ] }, { "title": "The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe 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"MLRMRTTGWARGWCLGCCLLLPLCFSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGRVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGGGGEGRRLGPADSAPYPGGGGNSGSGGGSGGSKRRLDAPEGGGGTGPSGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRATDLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSAPLDYETTREFNVVIVAVDSGSPSLSSNNSLVVKVGDTNDNPPVFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGTFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENSNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPRNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDSTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATVIDSQIVRSLHTPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVMMARYCRSKSKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTSNKYSKQMRVHPYITVFG", "length": 1069 }, "evidence": [ { "id": "45923627", "url": "http://www.informatics.jax.org/homology/45923627", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O60245", "url": "https://www.uniprot.org/uniprot/O60245" } ], "pmid": "" }, { "name": "platelet alpha granule membrane", "id": "GO:0031092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031092", "evidence": [ { "database": "UniProtKB", "id": "O60245", "url": "https://www.uniprot.org/uniprot/O60245" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O60245", "url": "https://www.uniprot.org/uniprot/O60245" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "O60245", "url": "https://www.uniprot.org/uniprot/O60245" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O60245", "url": "https://www.uniprot.org/uniprot/O60245" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1036, "end_pos": 1038, "annotation": "n_glycosylation_sequon" }, { "start_pos": 518, "end_pos": 520, "annotation": "n_glycosylation_sequon" }, { "start_pos": 689, "end_pos": 691, "annotation": "n_glycosylation_sequon" }, { "start_pos": 747, "end_pos": 749, "annotation": "n_glycosylation_sequon" }, { "start_pos": 780, "end_pos": 782, "annotation": "n_glycosylation_sequon" }, { "start_pos": 79, "end_pos": 81, "annotation": "n_glycosylation_sequon" }, { "start_pos": 822, "end_pos": 824, "annotation": "n_glycosylation_sequon" }, { "start_pos": 840, "end_pos": 842, "annotation": "n_glycosylation_sequon" }, { "start_pos": 845, "end_pos": 847, "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" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 79, 689, 747, 780, 822, 840, 845 ], "o_linked_sites": [ 751, 756 ], "snv_sites": [ 79, 85, 304, 322, 413, 433, 474, 488, 531, 622, 657, 683, 684, 738, 740, 749, 782, 822, 1054 ], "glycation_sites": [], "phosphorylation_sites": [ 180, 512, 974, 982, 989, 1000, 1004, 1011 ], "sequon_annotation_sites": [ { "start_pos": 1036, "end_pos": 1038 }, { "start_pos": 518, "end_pos": 520 }, { "start_pos": 689, "end_pos": 691 }, { "start_pos": 747, "end_pos": 749 }, { "start_pos": 780, "end_pos": 782 }, { "start_pos": 79, "end_pos": 81 }, { "start_pos": 822, "end_pos": 824 }, { "start_pos": 840, "end_pos": 842 }, { "start_pos": 845, "end_pos": 847 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 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": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "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": 21 }, { "field": "total_sites", "count": 19 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 184 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }