FHIT
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FHIT (HGNC:3701) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
fragile histidine triad diadenosine triphosphatase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FRA3B, AP3Aase
%HI
0.43(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.57(Read more about gnomAD LOEUF score)
Cytoband
3p14.2
Genomic Coordinates
GRCh37/hg19: chr3:59733003-61237126 NCBI Ensembl UCSC
GRCh38/hg38: chr3:59747277-61251452 NCBI Ensembl UCSC
MANE Select Transcript
NM_002012.4 ENST00000492590.6 (Read more about MANE Select)
Function
Possesses dinucleoside triphosphate hydrolase activity (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9576908, PubMed:9543008). Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9576908, PubMed:9543008). Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP (PubMed:8794732). Exhibits adenylylsulfatase activity, hydro... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18291
ClinGen Curation ID:
CCID:007142
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/24/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 17363630
    Sebat et al (2007) searched for de novo CNVs in patients with autism. DNA samples were prepared from blood and/or immortalized B cells. Two independent de novo deletions involving FHIT were detected. Of note, one of these was detected in DNA derived from the patient's cell line, but not detected in DNA derived from the same patient's blood sample.
  • PUBMED: 2337565
    Girirajan et al (2013) studied CNVs in patients with autistic features. Deletions involving FHIT exons were identified in two patients and also in two controls.
HI Evidence Comments:
FHIT is located at a fragile site and is commonly deleted in cancer (e.g. PMIDs 11902576 and 29748005).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
  • PUBMED: 27113213
    Fry et al (2016) studied CNVs in patients with intellectual disability or developmental delay and epilepsy. A paternally-inherited duplication involving the FHIT gene was observed in one patient. That same patient also had a de novo deletion involving CACNA1B and EHMT1.

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)