FHIT (Entrez ID: 2272)

Entrez Gene ID	2272
Official Gene Symbol	FHIT (GeneCards)
Full name	fragile histidine triad
Location	3p14.2
Other ids	Vega : OTTHUMG00000158591 MIM : 601153 HGNC : HGNC:3701 Ensembl : ENSG00000189283
Other names	FRA3B, AP3Aase
Summary	The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]

Variants

Found 27 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
4644	2272	FHIT	3	59824765	59824765	Asymptomatic	HiSeq X Ten
4702	2272	FHIT	3	60924213	60924213	Asymptomatic	HiSeq X Ten HiSeq 2000
4861	2272	FHIT	3	60906317	60906317	Asymptomatic	HiSeq X Ten HiSeq 2000
4920	2272	FHIT	3	60367133	60367133	Asymptomatic	HiSeq X Ten HiSeq 2000
4943	2272	FHIT	3	60590077	60590077	Asymptomatic	HiSeq X Ten HiSeq 2000
4987	2272	FHIT	3	60825649	60825649	Asymptomatic	HiSeq X Ten HiSeq 2000
5042	2272	FHIT	3	59908760	59908760	Asymptomatic	HiSeq X Ten HiSeq 2000
5056	2272	FHIT	3	61225626	61225626	Asymptomatic	HiSeq X Ten HiSeq 2000
5278	2272	FHIT	3	60801174	60801174	Asymptomatic	HiSeq X Ten HiSeq 2000
5308	2272	FHIT	3	59821648	59821648	Asymptomatic	HiSeq X Ten HiSeq 2000
5309	2272	FHIT	3	60243393	60243393	Asymptomatic	HiSeq X Ten HiSeq 2000
5601	2272	FHIT	3	60282333	60282333	Asymptomatic	HiSeq X Ten HiSeq 2000
5602	2272	FHIT	3	60911197	60911197	Asymptomatic	HiSeq X Ten HiSeq 2000
5639	2272	FHIT	3	61387879	61387879	Asymptomatic	HiSeq X Ten HiSeq 2000
5674	2272	FHIT	3	60493036	60493036	Cockayne syndrome	HiSeq X Ten HiSeq 2000
5689	2272	FHIT	3	60884922	60884922	Cockayne syndrome	HiSeq X Ten HiSeq 2000
5707	2272	FHIT	3	61082350	61082350	Cockayne syndrome	HiSeq X Ten HiSeq 2000
5741	2272	FHIT	3	60756192	60756192	Cockayne syndrome	HiSeq X Ten HiSeq 2000
5776	2272	FHIT	3	59956684	59956684	Cockayne syndrome	HiSeq X Ten HiSeq 2000
5788	2272	FHIT	3	60148795	60148795	Cockayne syndrome	HiSeq X Ten HiSeq 2000
5925	2272	FHIT	3	60187123	60187123	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
22754	2272	FHIT	3	61008132	61008132	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
22783	2272	FHIT	3	59974401	59974401	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25050	2272	FHIT	3	60794937	60794937	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25118	2272	FHIT	3	61521777	61521777	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25241	2272	FHIT	3	61444296	61444296	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
34304	2272	FHIT	3	60661591	60661591	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing