{ "uniprot_canonical_ac": "A6NC42-1", "ptm_annotation": [], "sequence": { "header": "sp|A6NC42-1|DPPA5_HUMAN Isoform 1 of Developmental pluripotency-associated 5 protein OS=Homo sapiens OX=9606 GN=DPPA5 PE=2 SV=1 CANONICAL=A6NC42-1", "length": 116, "sequence": "MGTLPARRHIPPWVKVPEDLKDPEVFQVQTRLLKAIFGPDGSRIPYIEQVSKAMLELKALESSDLTEVVVYGSYLYKLRTKWMLQSMAEWHRQRQERGMLKLAEAMNALELGPWMK" }, "uniprot_id": "DPPA5_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC42", "id": "A6NC42", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15790765", "type": [ "PubMed" ], "id": "15790765" } ], "title": "Identification of developmental pluripotency associated 5 expression in human pluripotent stem cells.", "journal": "Stem Cells", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC42", "id": "A6NC42", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ], "authors": "Lee J.Y., Yoon H.S., Kim K.-S., Moon S.H., Cho W.J., Hwang J.H., Suh M.R., Kim S.-K., Lee J.B., Moon S.-Y., Oh S.K.", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16081659", "type": [ "PubMed" ], "id": "16081659" } ], "title": "Primary differentiation in the human blastocyst: comparative molecular portraits of inner cell mass and trophectoderm cells.", "journal": "Stem cells (Dayton, Ohio)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ], "authors": "Adjaye J, Huntriss J, Herwig R, BenKahla A, Brink TC, Wierling C, Hultschig C, Groth D, Yaspo ML, Picton HM, Gosden RG, Lehrach H", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16166252", "type": [ "PubMed" ], "id": "16166252" } ], "title": "Analysis of Esg1 expression in pluripotent cells and the germline reveals similarities with Oct4 and Sox2 and differences between human pluripotent cell lines.", "journal": "Stem cells (Dayton, Ohio)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ], "authors": "Western P, Maldonado-Saldivia J, van den Bergen J, Hajkova P, Saitou M, Barton S, Surani MA", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17913455", "type": [ "PubMed" ], "id": "17913455" } ], "title": "Atypical structure and phylogenomic evolution of the new eutherian oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family.", "journal": "Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC42", "id": "A6NC42", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ], "authors": "Callebaut I., Pontarotti P., Bontoux M., Gautier M., Jeanpierre E., Monget P., Pierre A.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17967063", "type": [ "PubMed" ], "id": "17967063" } ], "title": "Genome-wide profiling of DNA methylation reveals a class of normally methylated CpG island promoters.", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ], "authors": "Shen L, Kondo Y, Guo Y, Zhang J, Zhang L, Ahmed S, Shu J, Chen X, Waterland RA, Issa JP", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19129511", "type": [ "PubMed" ], "id": "19129511" } ], "title": "Gene birth, death, and divergence: the different scenarios of reproduction-related gene evolution.", "journal": "Biology of reproduction", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ], "authors": "Tian X, Pascal G, Fouchecourt S, Pontarotti P, Monget P", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19221495", "type": [ "PubMed" ], "id": "19221495" } ], "title": "The role of promoter CpG methylation in the epigenetic control of stem cell related genes during differentiation.", "journal": "Cell cycle (Georgetown, Tex.)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ], "authors": "Dansranjavin T, Krehl S, Mueller T, Mueller LP, Schmoll HJ, Dammann RH", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20146561", "type": [ "PubMed" ], "id": "20146561" } ], "title": "Generation of induced pluripotent stem cells from human adipose-derived stem cells without c-MYC.", "journal": "Tissue engineering. Part A", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ], "authors": "Aoki T, Ohnishi H, Oda Y, Tadokoro M, Sasao M, Kato H, Hattori K, Ohgushi H", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26661329", "type": [ "PubMed" ], "id": "26661329" } ], "title": "DPPA5 Supports Pluripotency and Reprogramming by Regulating NANOG Turnover.", "journal": "Stem cells (Dayton, Ohio)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ], "authors": "Qian X, Kim JK, Tong W, Villa-Diaz LG, Krebsbach PH", "date": "2016" } ], "uniprot_ac": "A6NC42", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6NC42#A6NC42-1", "isoform_ac": "A6NC42-1", "locus": { "end_pos": 73353323, "strand": "+", "start_pos": 73354225, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000370370", "id": "ENST00000370370", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000359396", "id": "ENSP00000359396", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NC42-1|DPPA5_HUMAN Isoform 1 of Developmental pluripotency-associated 5 protein OS=Homo sapiens OX=9606 GN=DPPA5 PE=2 SV=1 CANONICAL=A6NC42-1", "length": 116, "sequence": "MGTLPARRHIPPWVKVPEDLKDPEVFQVQTRLLKAIFGPDGSRIPYIEQVSKAMLELKALESSDLTEVVVYGSYLYKLRTKWMLQSMAEWHRQRQERGMLKLAEAMNALELGPWMK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:340168", "resource": "KEGG Pathway", "id": "hsa:340168", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "annotation": "Dppa5 is specifically and differentially expressed in human cells that have pluripotency and can be used as a marker of pluripotent stem cells.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A6NC42#function", "annotation": "Involved in the maintenance of embryonic stem (ES) cell pluripotency. Dispensable for self-renewal of pluripotent ES cells and establishment of germ cells. Associates with specific target mRNAs (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC42#function", "id": "A6NC42", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "annotation": "Our study provides new insight into the function of DPPA5 and NANOG regulation in human pluripotent stem cell .", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q9CQS7-1", "protein_name": "Developmental pluripotency-associated protein 5A", "sequence": { "length": 118, "sequence": "MMVTLVTRKDIPPWVKVPEDLKDPEVFQVQSLVLKYLFGPQGSRMSHIEQVSQAMFELKNLESPEELIEVFIYGSQNNKIRAKWMLQSMAERYHLRQQKGVLKLEESMKTLELGQCIE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/104905", "id": "104905", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Dppa5a", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "G", "start_pos": 2, "alt_nt": "A", "chr_id": "6", "ref_nt": "C", "chr_pos": "74063944", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC42", "id": "A6NC42", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "V", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%). In dbSNP: rs1427771623.", "end_pos": 2, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "start_pos": 39, "alt_nt": "A", "chr_id": "6", "ref_nt": "G", "chr_pos": "74063752", "disease": [ { "synonyms": [ { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." } }, { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC42", "id": "A6NC42", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.1", "sequence_mut": "L", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 39, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "ac": "NP_001020461.1", "name": "developmental pluripotency-associated 5 protein", "summary": "This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis. Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on the short arm of chromosome 10 and the long arm of chromosomes 14 and 19. [provided by RefSeq, Dec 2010]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC42", "id": "A6NC42", "database": "UniProtKB" } ], "name": "mRNA binding", "id": "GO:0003729" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC42", "id": "A6NC42", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC42", "id": "A6NC42", "database": "UniProtKB" } ], "name": "regulation of gene expression", "id": "GO:0010468" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007275", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC42", "id": "A6NC42", "database": "UniProtKB" } ], "name": "multicellular organism development", "id": "GO:0007275" } ], "total": 2, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC42", "type": "synonym", "resource": "RefSeq", "name": "DPPA5" }, { "url": "https://www.uniprot.org/uniprot/A6NC42", "type": "recommended", "resource": "UniProtKB", "name": "DPPA5" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC42", "type": "synonym", "resource": "RefSeq", "name": "ESG1" }, { "url": "https://www.uniprot.org/uniprot/A6NC42", "type": "synonym", "resource": "UniProtKB", "name": "ESG1" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC42", "id": "A6NC42", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12795", "id": "cd12795", "database": "CDD" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPPA5", "id": "DPPA5", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/340168", "id": "340168", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=19201", "id": "19201", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR031952", "id": "IPR031952", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036612", "id": "IPR036612", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:340168", "id": "hsa:340168", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/611111", "id": "611111", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A6NC42", "id": "NX_A6NC42", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/KLRTRWM/", "id": "KLRTRWM", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1502478at2759", "id": "1502478at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF16005", "id": "PF16005", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A6NC42", "id": "A6NC42", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A6NC42", "id": "PR_A6NC42", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020461.1", "id": "NP_001020461.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A6NC42", "id": "A6NC42", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC42", "id": "A6NC42", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC42", "id": "A6NC42", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC42", "id": "A6NC42", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC42", "id": "A6NC42", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "recommended_name": { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC42", "id": "A6NC42", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "No" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "recommended_name": { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "lung adenocarcinoma", "description": "A lung cancer that derives_from epithelial cells of glandular origin." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC42", "id": "A6NC42", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC42", "id": "A6NC42", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [], "mutagenesis": [], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 13498.0, "chemical_mass": 13498.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203909", "id": "ENSG00000203909", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A6NC42", "name": "DPPA5", "locus": { "end_pos": 73353062, "strand": "-", "start_pos": 73354295, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000203909", "id": "ENSG00000203909", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A6NC42#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Developmental pluripotency-associated 5 protein" }, { "url": "https://www.uniprot.org/uniprot/A6NC42#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "ESG-1" }, { "url": "https://www.uniprot.org/uniprot/A6NC42#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Embryonal stem cell-specific gene 1 protein" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC42", "type": "synonym", "resource": "RefSeq", "name": "developmental pluripotency-associated 5 protein" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC42", "type": "synonym", "resource": "RefSeq", "name": "embryonal stem cell specific gene 1" }, { "url": "https://www.uniprot.org/uniprot/A6NC42#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "hDPPA5" } ] }