{"entity":{"id":"fhit","kind":"target","name":"FHIT","aka":["fragile histidine triad diadenosine triphosphatase","Bis(5'-adenosyl)-triphosphatase","FRA3B","AP3Aase"],"tldr":"FHIT (Bis(5'-adenosyl)-triphosphatase) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Skin cancer and 1 more.","summary":"Possesses dinucleoside triphosphate hydrolase activity. Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyse P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.98, animal model 0.40, genetic association 0.71, somatic mutation 0.98). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3701","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3701"},{"label":"UniProt P49789","url":"https://www.uniprot.org/uniprotkb/P49789/entry"},{"label":"NCBI Gene 2272","url":"https://www.ncbi.nlm.nih.gov/gene/2272"},{"label":"Ensembl ENSG00000189283","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000189283"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","ovarian","skin-cancer","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FHIT","role":["oncogene-driver","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3701","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3701","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49789","url":"https://www.uniprot.org/uniprotkb/P49789/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FHIT","url":"https://civicdb.org/features/1893","note":"1 evidence items, 0 assertions, 2 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000189283","url":"https://platform.opentargets.org/target/ENSG00000189283/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: ovarian cancer 0.54, skin cancer 0.52, breast cancer 0.65 (GraphQL API, CC0)"},{"label":"IntOGen FHIT","url":"https://www.intogen.org/search?gene=FHIT","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:3701","ensembl":"ENSG00000189283","uniprot":"P49789","entrez":"2272","biology":"Possesses dinucleoside triphosphate hydrolase activity. Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyse P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Exhibits adenylylsulfatase activity, hydrolysing adenosine 5'-phosphosulfate to yield AMP and sulfate. Exhibits adenosine 5'-monophosphoramidase activity, hydrolysing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2. Exhibits adenylylsulfate-ammonia adenylyltransferase, catalysing the ammonolysis of adenosine 5'-phosphosulfate resulting in the formation of adenosine 5'-phosphoramidate. Location: Cytoplasm; Mitochondrion; Nucleus (UniProt). Locus 3p14.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.54 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/fhit/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}