FHIT (fragile histidine triad diadenosine triphosphatase) - Rat Genome Database

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Gene: FHIT (fragile histidine triad diadenosine triphosphatase) Homo sapiens
Analyze
Symbol: FHIT
Name: fragile histidine triad diadenosine triphosphatase
RGD ID: 1344220
HGNC Page HGNC:3701
Description: Enables several functions, including adenosine 5'-monophosphoramidase activity; adenylylsulfate-ammonia adenylyltransferase activity; and hydrolase activity, acting on acid anhydrides. Involved in intrinsic apoptotic signaling pathway by p53 class mediator; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and nucleotide metabolic process. Located in cytosol; fibrillar center; and plasma membrane. Implicated in carcinoma (multiple); invasive ductal carcinoma; reproductive organ cancer (multiple); and urinary bladder cancer. Biomarker of lung non-small cell carcinoma; renal cell carcinoma; and seminoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenosine 5'-monophosphoramidase FHIT; adenylylsulfatase; adenylylsulfate-ammonia adenylyltransferase; AP3A hydrolase; AP3Aase; bis(5'-adenosyl)-triphosphatase; diadenosine 5',5'''-P1,P3-triphosphate hydrolase; dinucleosidetriphosphatase; FRA3B; fragile histidine triad; fragile histidine triad protein; fragile site, aphidicolin type, common, fra(3)(p14.2); tumor suppressor protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38359,747,277 - 61,251,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl359,747,277 - 61,251,459 (-)EnsemblGRCh38hg38GRCh38
GRCh37359,733,003 - 61,237,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36359,710,076 - 61,212,164 (-)NCBINCBI36Build 36hg18NCBI36
Build 34359,710,077 - 61,212,164NCBI
Celera359,748,610 - 61,250,104 (-)NCBICelera
Cytogenetic Map3p14.2NCBI
HuRef359,831,176 - 61,335,629 (-)NCBIHuRef
CHM1_1359,685,586 - 61,187,676 (-)NCBICHM1_1
T2T-CHM13v2.0359,787,636 - 61,294,609 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-cotinine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropropane  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2,6-diaminotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-nitro-p-phenylenediamine  (ISO)
2-nitropropane  (ISO)
2-nitrotoluene  (ISO)
3-chloropropane-1,2-diol  (EXP)
3-methylcholanthrene  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-acetylaminofluorene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitro-1,2-phenylenediamine  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
7,12-dimethyltetraphene  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
clothianidin  (EXP)
cycloheximide  (EXP)
ethyl methanesulfonate  (EXP)
graphite  (ISO)
hydralazine  (EXP)
indole-3-methanol  (ISO)
inulin  (ISO)
Lasiocarpine  (EXP)
MeIQx  (EXP)
menadione  (EXP)
methamphetamine  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
mitomycin C  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel dichloride  (ISO)
nickel subsulfide  (ISO)
O-methyleugenol  (EXP,ISO)
para-Nitrosodiphenylamine  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
PhIP  (EXP)
ponasterone A  (EXP)
quercetin  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
succimer  (ISO)
sunitinib  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vinyl carbamate  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA)
fibrillar center  (IDA)
mitochondrion  (IEA)
nucleus  (IBA,IEA)
plasma membrane  (IBA,IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Allelic deletion analysis of the FHIT gene predicts poor survival in non-small cell lung cancer. Burke L, etal., Cancer Res. 1998 Jun 15;58(12):2533-6.
2. Evaluation of FHIT gene alterations in ovarian cancer. Buttitta F, etal., Br J Cancer. 1998 Apr;77(7):1048-51.
3. Hypermethylation and loss of heterozygosity of tumor suppressor genes on chromosome 3p in cervical cancer. Choi CH, etal., Cancer Lett. 2007 Sep 18;255(1):26-33. Epub 2007 Apr 30.
4. HPV-associated cervical cancers show frequent allelic loss at 3p14 but no apparent aberration of FHIT mRNA. Chu TY, etal., Int J Cancer. 1998 Jan 19;75(2):199-204.
5. Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition Chu YX, etal., Sichuan Da Xue Xue Bao Yi Xue Ban. 2006 Mar;37(2):218-20.
6. FHIT, a Novel Modifier Gene in Pulmonary Arterial Hypertension. Dannewitz Prosseda S, etal., Am J Respir Crit Care Med. 2019 Jan 1;199(1):83-98. doi: 10.1164/rccm.201712-2553OC.
7. CpG methylation of the FHIT, FANCF, cyclin-D2, BRCA2 and RUNX3 genes in Granulosa cell tumors (GCTs) of ovarian origin. Dhillon VS, etal., Mol Cancer. 2004 Dec 1;3:33.
8. Loss of Fhit expression in testicular germ cell tumors and intratubular germ cell neoplasia. Eyzaguirre E and Gatalica Z, Mod Pathol. 2002 Oct;15(10):1068-72.
9. Different immunohistochemical patterns of Fhit protein expression in renal neoplasms. Eyzaguirre EJ, etal., Mod Pathol. 1999 Oct;12(10):979-83.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. CpG island methylation in Schistosoma- and non-Schistosoma-associated bladder cancer. Gutierrez MI, etal., Mod Pathol. 2004 Oct;17(10):1268-74.
12. The fragile histidine triad gene: a molecular link between cigarette smoking and cervical cancer. Holschneider CH, etal., Clin Cancer Res. 2005 Aug 15;11(16):5756-63.
13. Analysis of the fragile histidine triad (FHIT) gene in lobular breast cancer. Huiping C, etal., Eur J Cancer. 2000 Aug;36(12):1552-7.
14. Genetic linkage of prostate cancer risk to the chromosome 3 region bearing FHIT. Larson GP, etal., Cancer Res. 2005 Feb 1;65(3):805-14.
15. Association between germline variation in the FHIT gene and prostate cancer in Caucasians and African Americans. Levin AM, etal., Cancer Epidemiol Biomarkers Prev. 2007 Jun;16(6):1294-7.
16. 4-Hydroxybutyl(butyl)nitrosamine-induced urinary bladder cancers in mice: characterization of FHIT and survivin expression and chemopreventive effects of indomethacin. Lubet RA, etal., Carcinogenesis. 2005 Mar;26(3):571-8. Epub 2004 Dec 9.
17. Aberrant promoter methylation profile of bladder cancer and its relationship to clinicopathological features. Maruyama R, etal., Cancer Res. 2001 Dec 15;61(24):8659-63.
18. Aberrant promoter methylation profile of prostate cancers and its relationship to clinicopathological features. Maruyama R, etal., Clin Cancer Res. 2002 Feb;8(2):514-9.
19. Nitrilase and Fhit homologs are encoded as fusion proteins in Drosophila melanogaster and Caenorhabditis elegans. Pekarsky Y, etal., Proc Natl Acad Sci U S A 1998 Jul 21;95(15):8744-9.
20. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
21. A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma. Poland KS, etal., Genes Chromosomes Cancer. 2007 Sep;46(9):805-12.
22. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
23. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
24. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
25. Clinicopathological significance of fragile histidine triad transcription protein expression in endometrial carcinomas. Segawa T, etal., Clin Cancer Res. 2000 Jun;6(6):2341-8.
26. Candidate genes for testicular cancer evaluated by in situ protein expression analyses on tissue microarrays. Skotheim RI, etal., Neoplasia. 2003 Sep-Oct;5(5):397-404.
27. The expression of FHIT, PCNA and EGFR in benign and malignant breast lesions. Terry G, etal., Br J Cancer. 2007 Jan 15;96(1):110-7. Epub 2006 Dec 12.
28. Clinicopathological significance of Fhit protein expression in stage I non-small cell lung carcinoma. Tomizawa Y, etal., Cancer Res. 1998 Dec 1;58(23):5478-83.
29. Two-hit inactivation of FHIT by loss of heterozygosity and hypermethylation in breast cancer. Yang Q, etal., Clin Cancer Res. 2002 Sep;8(9):2890-3.
Additional References at PubMed
PMID:2337565   PMID:3864602   PMID:6704944   PMID:6852828   PMID:6874402   PMID:8598045   PMID:8620533   PMID:8640789   PMID:8661111   PMID:8790406   PMID:8794732   PMID:8824874  
PMID:8988031   PMID:9012482   PMID:9261067   PMID:9290949   PMID:9323207   PMID:9366528   PMID:9405656   PMID:9537583   PMID:9543008   PMID:9576908   PMID:9583683   PMID:9689122  
PMID:9824201   PMID:10706123   PMID:11071873   PMID:11085938   PMID:11248081   PMID:11320209   PMID:11396980   PMID:11517343   PMID:11731438   PMID:11768238   PMID:11788890   PMID:11809703  
PMID:11891319   PMID:11902576   PMID:11915181   PMID:12007194   PMID:12048684   PMID:12057912   PMID:12067991   PMID:12090476   PMID:12095833   PMID:12119013   PMID:12169206   PMID:12177781  
PMID:12353263   PMID:12362975   PMID:12419158   PMID:12452072   PMID:12477932   PMID:12483524   PMID:12529969   PMID:12574506   PMID:12627509   PMID:12697969   PMID:12698186   PMID:12771912  
PMID:12800227   PMID:12833632   PMID:12839965   PMID:12890991   PMID:12893195   PMID:12926121   PMID:12964015   PMID:12969785   PMID:14566838   PMID:14569398   PMID:14630947   PMID:14660280  
PMID:14675322   PMID:14702039   PMID:14719066   PMID:14719099   PMID:14760383   PMID:14991669   PMID:15007172   PMID:15026336   PMID:15044096   PMID:15060557   PMID:15073846   PMID:15080495  
PMID:15080505   PMID:15182206   PMID:15219888   PMID:15231689   PMID:15246872   PMID:15313915   PMID:15328196   PMID:15361849   PMID:15384174   PMID:15480422   PMID:15489334   PMID:15489891  
PMID:15569992   PMID:15633221   PMID:15674328   PMID:15798093   PMID:15835917   PMID:15902282   PMID:15906520   PMID:15929169   PMID:15935551   PMID:15949315   PMID:15998374   PMID:16189514  
PMID:16217683   PMID:16231322   PMID:16242161   PMID:16344560   PMID:16359767   PMID:16407838   PMID:16513840   PMID:16533421   PMID:16570269   PMID:16698048   PMID:16699861   PMID:16733051  
PMID:16739375   PMID:16740775   PMID:16763940   PMID:16773697   PMID:16864578   PMID:16963412   PMID:16990010   PMID:17029211   PMID:17037022   PMID:17119051   PMID:17137614   PMID:17142325  
PMID:17143956   PMID:17328863   PMID:17348444   PMID:17359554   PMID:17363630   PMID:17373735   PMID:17374991   PMID:17380463   PMID:17382535   PMID:17393360   PMID:17562266   PMID:17596760  
PMID:17609851   PMID:17671701   PMID:17694439   PMID:17712558   PMID:17846126   PMID:18006149   PMID:18029348   PMID:18038314   PMID:18077326   PMID:18091387   PMID:18097574   PMID:18162546  
PMID:18221322   PMID:18247301   PMID:18299890   PMID:18338496   PMID:18338497   PMID:18367246   PMID:18378390   PMID:18426086   PMID:18476633   PMID:18494825   PMID:18517280   PMID:18567082  
PMID:18595145   PMID:18608185   PMID:18618300   PMID:18690840   PMID:18694747   PMID:18821565   PMID:18953408   PMID:18985481   PMID:19004824   PMID:19096006   PMID:19130459   PMID:19240061  
PMID:19267103   PMID:19286306   PMID:19339270   PMID:19401904   PMID:19414370   PMID:19418484   PMID:19419937   PMID:19434452   PMID:19452299   PMID:19502167   PMID:19620087   PMID:19621594  
PMID:19622739   PMID:19717471   PMID:19728916   PMID:19730990   PMID:19751438   PMID:19760177   PMID:19815620   PMID:19913121   PMID:19931269   PMID:20060354   PMID:20060399   PMID:20082323  
PMID:20083852   PMID:20083853   PMID:20095356   PMID:20125088   PMID:20306291   PMID:20379614   PMID:20399571   PMID:20417865   PMID:20435627   PMID:20458975   PMID:20510001   PMID:20552362  
PMID:20606729   PMID:20622329   PMID:20628086   PMID:20689140   PMID:20690795   PMID:20814237   PMID:20864173   PMID:20864512   PMID:21095196   PMID:21182207   PMID:21223598   PMID:21241597  
PMID:21258320   PMID:21404710   PMID:21557333   PMID:21617227   PMID:21668571   PMID:21679157   PMID:21685375   PMID:21711110   PMID:21830375   PMID:21870644   PMID:21873635   PMID:21928112  
PMID:21988832   PMID:22315171   PMID:22379998   PMID:22393963   PMID:22419666   PMID:22425911   PMID:22578181   PMID:22613411   PMID:22747683   PMID:22760553   PMID:22766745   PMID:22843886  
PMID:22932087   PMID:22952603   PMID:23019410   PMID:23049088   PMID:23102829   PMID:23131390   PMID:23209436   PMID:23284306   PMID:23376485   PMID:23404381   PMID:23470693   PMID:23494221  
PMID:23709347   PMID:23724516   PMID:23736021   PMID:23780737   PMID:23797051   PMID:23897914   PMID:23929738   PMID:23944951   PMID:23947369   PMID:23969757   PMID:23991058   PMID:23993961  
PMID:24185125   PMID:24223161   PMID:24370550   PMID:24556720   PMID:24667261   PMID:24722188   PMID:24729090   PMID:24757411   PMID:24800985   PMID:24909176   PMID:24935385   PMID:24954895  
PMID:24998847   PMID:25040980   PMID:25098403   PMID:25283145   PMID:25340791   PMID:25401976   PMID:25416956   PMID:25422218   PMID:25460508   PMID:25486479   PMID:25711523   PMID:25720522  
PMID:25735361   PMID:26181368   PMID:26406001   PMID:26491255   PMID:26745060   PMID:26796853   PMID:26929601   PMID:27060312   PMID:27107012   PMID:27113213   PMID:27236032   PMID:27453043  
PMID:27572663   PMID:27716889   PMID:27773744   PMID:27835588   PMID:28036263   PMID:28093273   PMID:28094435   PMID:28289900   PMID:28404875   PMID:28414756   PMID:28514442   PMID:28639889  
PMID:28847065   PMID:29095316   PMID:29282095   PMID:29516675   PMID:29531279   PMID:29752880   PMID:30673867   PMID:30706851   PMID:30773529   PMID:30941950   PMID:31515488   PMID:31771040  
PMID:32296183   PMID:32474857   PMID:33437205   PMID:33961781   PMID:34092254   PMID:34133714   PMID:34181717   PMID:34284702   PMID:35254116   PMID:36161592   PMID:36766695   PMID:38069335  


Genomics

Comparative Map Data
FHIT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38359,747,277 - 61,251,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl359,747,277 - 61,251,459 (-)EnsemblGRCh38hg38GRCh38
GRCh37359,733,003 - 61,237,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36359,710,076 - 61,212,164 (-)NCBINCBI36Build 36hg18NCBI36
Build 34359,710,077 - 61,212,164NCBI
Celera359,748,610 - 61,250,104 (-)NCBICelera
Cytogenetic Map3p14.2NCBI
HuRef359,831,176 - 61,335,629 (-)NCBIHuRef
CHM1_1359,685,586 - 61,187,676 (-)NCBICHM1_1
T2T-CHM13v2.0359,787,636 - 61,294,609 (-)NCBIT2T-CHM13v2.0
Fhit
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391411,307,718 - 12,919,681 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1411,307,738 - 12,919,681 (+)EnsemblGRCm39 Ensembl
GRCm38149,550,092 - 11,162,061 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl149,550,092 - 11,162,035 (-)EnsemblGRCm38mm10GRCm38
MGSCv371410,382,608 - 11,994,546 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36148,343,886 - 9,955,286 (-)NCBIMGSCv36mm8
Celera145,162,596 - 6,766,296 (-)NCBICelera
Cytogenetic Map14A1NCBI
cM Map145.61NCBI
Fhit
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81516,365,401 - 17,872,901 (+)NCBIGRCr8
mRatBN7.21513,935,029 - 15,442,620 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1513,934,995 - 15,442,340 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1516,096,570 - 17,612,441 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01517,054,989 - 18,570,873 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01515,309,857 - 16,825,743 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01515,697,292 - 16,862,873 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01519,698,557 - 20,157,380 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01520,538,368 - 20,846,575 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41515,823,461 - 17,329,184 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11515,823,460 - 17,329,184 (+)NCBI
Celera1513,959,987 - 15,420,085 (+)NCBICelera
Cytogenetic Map15p15NCBI
Fhit
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955430221,518 - 508,094 (+)NCBIChiLan1.0ChiLan1.0
FHIT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2259,695,617 - 61,199,006 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1359,700,388 - 61,203,773 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0359,670,777 - 61,177,974 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1361,069,947 - 62,568,700 (-)NCBIpanpan1.1PanPan1.1panPan2
FHIT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12029,735,380 - 31,113,859 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2030,356,572 - 31,113,859 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2029,661,734 - 31,040,232 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02029,969,947 - 31,357,367 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2030,591,449 - 31,357,367 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12029,454,740 - 30,839,134 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02029,814,343 - 31,193,482 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02029,913,532 - 31,358,781 (+)NCBIUU_Cfam_GSD_1.0
Fhit
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118167,149,768 - 168,286,240 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936473676,237 - 1,424,506 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936473397,140 - 1,424,805 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FHIT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1341,443,965 - 42,392,817 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11341,443,963 - 42,884,799 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21345,643,668 - 46,973,979 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FHIT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12221,006,010 - 22,474,056 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041144,572,356 - 145,797,861 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fhit
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248226,621,909 - 7,380,047 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248226,621,609 - 8,069,590 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FHIT
89 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002012.2(FHIT):c.104-55884A>G single nucleotide variant Lung cancer [RCV000093612] Chr3:60070036 [GRCh38]
Chr3:60055762 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.2(FHIT):c.104-130748G>C single nucleotide variant Lung cancer [RCV000093613] Chr3:60144898 [GRCh38]
Chr3:60130626 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.2(FHIT):c.103+37045G>C single nucleotide variant Lung cancer [RCV000093615] Chr3:60499815 [GRCh38]
Chr3:60485548 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.2(FHIT):c.-17-43980A>G single nucleotide variant Lung cancer [RCV000093616] Chr3:60580959 [GRCh38]
Chr3:60566692 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.2(FHIT):c.-17-73468A>T single nucleotide variant Lung cancer [RCV000093617] Chr3:60610447 [GRCh38]
Chr3:60596180 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.2(FHIT):c.-17-127205A>G single nucleotide variant Lung cancer [RCV000093618] Chr3:60664184 [GRCh38]
Chr3:60649917 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.2(FHIT):c.-110-39647G>T single nucleotide variant Lung cancer [RCV000093619] Chr3:60861680 [GRCh38]
Chr3:60847352 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.2(FHIT):c.-213+4477C>T single nucleotide variant Lung cancer [RCV000093621] Chr3:61246824 [GRCh38]
Chr3:61232498 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh38/hg38 3p14.3-14.2(chr3:58532827-60193441)x3 copy number gain See cases [RCV000051469] Chr3:58532827..60193441 [GRCh38]
Chr3:58518554..60179169 [GRCh37]
Chr3:58493594..60154209 [NCBI36]
Chr3:3p14.3-14.2		 uncertain significance
GRCh38/hg38 3p14.2(chr3:59743673-60984329)x3 copy number gain See cases [RCV000051471] Chr3:59743673..60984329 [GRCh38]
Chr3:59729399..60970001 [GRCh37]
Chr3:59704439..60945041 [NCBI36]
Chr3:3p14.2		 uncertain significance
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1		 pathogenic
GRCh38/hg38 3p14.2(chr3:60102627-60855742)x1 copy number loss See cases [RCV000051042] Chr3:60102627..60855742 [GRCh38]
Chr3:60088353..60830769 [GRCh37]
Chr3:60063393..60816454 [NCBI36]
Chr3:3p14.2		 uncertain significance
GRCh38/hg38 3p14.2(chr3:60460013-60532126)x1 copy number loss See cases [RCV000053956] Chr3:60460013..60532126 [GRCh38]
Chr3:60445746..60517859 [GRCh37]
Chr3:60420786..60492899 [NCBI36]
Chr3:3p14.2		 uncertain significance
GRCh38/hg38 3p14.2(chr3:61173973-61402744)x1 copy number loss See cases [RCV000053957] Chr3:61173973..61402744 [GRCh38]
Chr3:61159646..61388418 [GRCh37]
Chr3:61134686..61363458 [NCBI36]
Chr3:3p14.2		 uncertain significance
NM_002012.2(FHIT):c.381C>T (p.Ala127=) single nucleotide variant Malignant melanoma [RCV000066174] Chr3:59752289 [GRCh38]
Chr3:59738015 [GRCh37]
Chr3:59713055 [NCBI36]
Chr3:3p14.2		 not provided
GRCh38/hg38 3p14.2(chr3:60102627-60254729)x1 copy number loss See cases [RCV000134266] Chr3:60102627..60254729 [GRCh38]
Chr3:60088353..60240457 [GRCh37]
Chr3:60063393..60215497 [NCBI36]
Chr3:3p14.2		 benign
GRCh38/hg38 3p14.2(chr3:60611688-61007410)x1 copy number loss See cases [RCV000136701] Chr3:60611688..61007410 [GRCh38]
Chr3:60572461..60968122 [NCBI36]
Chr3:3p14.2		 uncertain significance
GRCh38/hg38 3p14.2(chr3:60102749-60254925)x1 copy number loss See cases [RCV000138418] Chr3:60102749..60254925 [GRCh38]
Chr3:60088475..60240653 [GRCh37]
Chr3:60063515..60215693 [NCBI36]
Chr3:3p14.2		 likely benign
GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 copy number loss See cases [RCV000139570] Chr3:57430538..64884522 [GRCh38]
Chr3:57416265..64870197 [GRCh37]
Chr3:57391305..64845237 [NCBI36]
Chr3:3p14.3-14.1		 pathogenic
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
GRCh38/hg38 3p14.3-14.2(chr3:58498793-60217173)x3 copy number gain See cases [RCV000142126] Chr3:58498793..60217173 [GRCh38]
Chr3:58484520..60202901 [GRCh37]
Chr3:58459560..60177941 [NCBI36]
Chr3:3p14.3-14.2		 uncertain significance
GRCh38/hg38 3p14.2(chr3:60855679-61139521)x1 copy number loss See cases [RCV000142871] Chr3:60855679..61139521 [GRCh38]
Chr3:60952040..61125194 [GRCh37]
Chr3:60816391..61100234 [NCBI36]
Chr3:3p14.2		 uncertain significance
GRCh38/hg38 3p14.3-14.2(chr3:58534847-60199939)x3 copy number gain See cases [RCV000142665] Chr3:58534847..60199939 [GRCh38]
Chr3:58520574..60185667 [GRCh37]
Chr3:58495614..60160707 [NCBI36]
Chr3:3p14.3-14.2		 uncertain significance
GRCh38/hg38 3p14.2(chr3:60103588-60251982)x1 copy number loss Premature ovarian failure [RCV000225342] Chr3:60103588..60251982 [GRCh38]
Chr3:60089314..60237710 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.3-14.2(chr3:58494677-60076736)x3 copy number gain See cases [RCV000240101] Chr3:58494677..60076736 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:60374919-60525916)x1 copy number loss See cases [RCV000446818] Chr3:60374919..60525916 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:60877562-61231290)x1 copy number loss See cases [RCV000447685] Chr3:60877562..61231290 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:59822056-60066991)x1 copy number loss See cases [RCV000446773] Chr3:59822056..60066991 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.2(chr3:60515742-60629805)x3 copy number gain See cases [RCV000448845] Chr3:60515742..60629805 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.2(chr3:59858655-60076677)x1 copy number loss See cases [RCV000448272] Chr3:59858655..60076677 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:60382706-60472496)x1 copy number loss See cases [RCV000448194] Chr3:60382706..60472496 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.2(chr3:59702004-61021488)x3 copy number gain See cases [RCV000510374] Chr3:59702004..61021488 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2-14.1(chr3:60526226-63742930)x1 copy number loss See cases [RCV000511529] Chr3:60526226..63742930 [GRCh37]
Chr3:3p14.2-14.1		 likely pathogenic
NM_002012.4(FHIT):c.104-196657C>A single nucleotide variant Lip and oral cavity carcinoma [RCV000496002] Chr3:60210809 [GRCh38]
Chr3:60196537 [GRCh37]
Chr3:3p14.2		 association
GRCh37/hg19 3p14.2(chr3:61036291-61639996)x3 copy number gain See cases [RCV000511038] Chr3:61036291..61639996 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_002012.4(FHIT):c.152G>A (p.Arg51His) single nucleotide variant Inborn genetic diseases [RCV003306978] Chr3:60014104 [GRCh38]
Chr3:59999830 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p14.2(chr3:59704192-61011222)x3 copy number gain not provided [RCV000659224] Chr3:59704192..61011222 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3 copy number gain not provided [RCV000682261] Chr3:58498676..60210851 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:59096261-60506244)x3 copy number gain not provided [RCV000682263] Chr3:59096261..60506244 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:59179798-60802169)x1 copy number loss not provided [RCV000682264] Chr3:59179798..60802169 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:60388321-60658961)x3 copy number gain not provided [RCV000682265] Chr3:60388321..60658961 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:60640740-60715235)x1 copy number loss not provided [RCV000682266] Chr3:60640740..60715235 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NC_000003.12:g.(?_60501297)_(60591815_?)del deletion Autism [RCV000754287] Chr3:60501297..60591815 [GRCh38]
Chr3:3p14.2		 likely pathogenic
NC_000003.12:g.(?_60389119)_(60571624_?)del deletion Schizophrenia [RCV000754284] Chr3:60389119..60571624 [GRCh38]
Chr3:3p14.2		 likely pathogenic
NC_000003.12:g.(?_60408194)_(60672864_?)del deletion Schizophrenia [RCV000754285] Chr3:60408194..60672864 [GRCh38]
Chr3:3p14.2		 likely pathogenic
NC_000003.12:g.(?_60438915)_(60817364_?)del deletion Schizophrenia [RCV000754286] Chr3:60438915..60817364 [GRCh38]
Chr3:3p14.2		 likely pathogenic
Single allele duplication Primary amenorrhea [RCV000754413] Chr3:59180080..60204731 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.2(chr3:59739919-59820558)x1 copy number loss not provided [RCV000742437] Chr3:59739919..59820558 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:59946354-59961536)x1 copy number loss not provided [RCV000742438] Chr3:59946354..59961536 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60057395-60057822)x1 copy number loss not provided [RCV000742439] Chr3:60057395..60057822 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60068730-60276722)x1 copy number loss not provided [RCV000742440] Chr3:60068730..60276722 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60215950-60235256)x3 copy number gain not provided [RCV000742441] Chr3:60215950..60235256 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60276722-60487074)x1 copy number loss not provided [RCV000742442] Chr3:60276722..60487074 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60330356-60351746)x1 copy number loss not provided [RCV000742443] Chr3:60330356..60351746 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60333449-60423009)x1 copy number loss not provided [RCV000742444] Chr3:60333449..60423009 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60388322-60643045)x3 copy number gain not provided [RCV000742445] Chr3:60388322..60643045 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60403658-60428024)x1 copy number loss not provided [RCV000742446] Chr3:60403658..60428024 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60421119-60576769)x1 copy number loss not provided [RCV000742447] Chr3:60421119..60576769 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60441079-60465279)x1 copy number loss not provided [RCV000742448] Chr3:60441079..60465279 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60445253-60512889)x1 copy number loss not provided [RCV000742449] Chr3:60445253..60512889 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60447369-60620284)x1 copy number loss not provided [RCV000742450] Chr3:60447369..60620284 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60588627-60780913)x1 copy number loss not provided [RCV000742451] Chr3:60588627..60780913 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60673277-60719139)x1 copy number loss not provided [RCV000742452] Chr3:60673277..60719139 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:60819003-60843086)x1 copy number loss not provided [RCV000742453] Chr3:60819003..60843086 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:61036905-61046212)x1 copy number loss not provided [RCV000742454] Chr3:61036905..61046212 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:61122318-61127981)x1 copy number loss not provided [RCV000742455] Chr3:61122318..61127981 [GRCh37]
Chr3:3p14.2		 benign
GRCh37/hg19 3p14.2(chr3:61127205-61132698)x1 copy number loss not provided [RCV000742456] Chr3:61127205..61132698 [GRCh37]
Chr3:3p14.2		 benign
NM_002012.4(FHIT):c.426G>A (p.Leu142=) single nucleotide variant not provided [RCV000894921] Chr3:59752244 [GRCh38]
Chr3:59737970 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.2(chr3:59709050-61021526)x3 copy number gain See cases [RCV000790606] Chr3:59709050..61021526 [GRCh37]
Chr3:3p14.2		 likely benign
NM_002012.4(FHIT):c.6G>T (p.Ser2=) single nucleotide variant not provided [RCV000879557] Chr3:60536957 [GRCh38]
Chr3:60522690 [GRCh37]
Chr3:3p14.2		 benign
NM_002012.4(FHIT):c.69C>T (p.Phe23=) single nucleotide variant not provided [RCV000917911] Chr3:60536894 [GRCh38]
Chr3:60522627 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3 copy number gain not provided [RCV000848569] Chr3:58490107..60210773 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3 copy number gain not provided [RCV000848572] Chr3:58490107..60210773 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:59702127-61021488)x3 copy number gain not provided [RCV001005438] Chr3:59702127..61021488 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.2(chr3:59702004-61021526)x3 copy number gain not provided [RCV000847047] Chr3:59702004..61021526 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:61018890-61066033)x1 copy number loss not provided [RCV000847657] Chr3:61018890..61066033 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:60498171-60569065)x3 copy number gain not provided [RCV000848996] Chr3:60498171..60569065 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1 copy number loss not provided [RCV000846379] Chr3:57076136..65716956 [GRCh37]
Chr3:3p14.3-14.1		 pathogenic
GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3 copy number gain not provided [RCV000846903] Chr3:58490107..60210773 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.2-14.1(chr3:60844727-63983596)x1 copy number loss not provided [RCV000845843] Chr3:60844727..63983596 [GRCh37]
Chr3:3p14.2-14.1		 uncertain significance
GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1 copy number loss not provided [RCV001005439] Chr3:60449667..65561638 [GRCh37]
Chr3:3p14.2-14.1		 pathogenic
GRCh37/hg19 3p14.2(chr3:60800930-61017464)x1 copy number loss not provided [RCV001259679] Chr3:60800930..61017464 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.2(chr3:60537596-60897771)x1 copy number loss not provided [RCV001259678] Chr3:60537596..60897771 [GRCh37]
Chr3:3p14.2		 likely benign
NM_002012.4(FHIT):c.103+32489_103+54184del deletion Megacolon [RCV001290049] Chr3:60482676..60504371 [GRCh38]
Chr3:60468409..60490104 [GRCh37]
Chr3:3p14.2		 likely pathogenic
GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3 copy number gain See cases [RCV002285047] Chr3:58498676..60210851 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1 copy number loss not provided [RCV001829252] Chr3:59332508..70686155 [GRCh37]
Chr3:3p14.2-13		 pathogenic
GRCh37/hg19 3p14.2(chr3:60350678-60532439)x1 copy number loss not provided [RCV001836497] Chr3:60350678..60532439 [GRCh37]
Chr3:3p14.2		 likely benign
GRCh37/hg19 3p14.2(chr3:60750120-60916541)x1 copy number loss not provided [RCV001827862] Chr3:60750120..60916541 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.38C>A (p.Ser13Tyr) single nucleotide variant Inborn genetic diseases [RCV003286239] Chr3:60536925 [GRCh38]
Chr3:60522658 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:59923379-60227870)x1 copy number loss not provided [RCV002474930] Chr3:59923379..60227870 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.3-14.2(chr3:58498677-60210851)x3 copy number gain not provided [RCV002475728] Chr3:58498677..60210851 [GRCh37]
Chr3:3p14.3-14.2		 uncertain significance
NM_002012.4(FHIT):c.137G>A (p.Arg46His) single nucleotide variant Inborn genetic diseases [RCV002923979] Chr3:60014119 [GRCh38]
Chr3:59999845 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.341A>G (p.Tyr114Cys) single nucleotide variant Inborn genetic diseases [RCV002845847] Chr3:59922353 [GRCh38]
Chr3:59908079 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.25C>G (p.Leu9Val) single nucleotide variant Inborn genetic diseases [RCV002980907] Chr3:60536938 [GRCh38]
Chr3:60522671 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.194T>G (p.Val65Gly) single nucleotide variant Inborn genetic diseases [RCV002888723] Chr3:60014062 [GRCh38]
Chr3:59999788 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.430G>A (p.Val144Ile) single nucleotide variant Inborn genetic diseases [RCV002897691] Chr3:59752240 [GRCh38]
Chr3:59737966 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.56C>T (p.Thr19Ile) single nucleotide variant Inborn genetic diseases [RCV003297749] Chr3:60536907 [GRCh38]
Chr3:60522640 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.116G>A (p.Cys39Tyr) single nucleotide variant Inborn genetic diseases [RCV003174844] Chr3:60014140 [GRCh38]
Chr3:59999866 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.242C>G (p.Ser81Cys) single nucleotide variant Inborn genetic diseases [RCV003175107] Chr3:60014014 [GRCh38]
Chr3:59999740 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.329A>G (p.Asn110Ser) single nucleotide variant Inborn genetic diseases [RCV003208832] Chr3:59922365 [GRCh38]
Chr3:59908091 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.346G>A (p.Glu116Lys) single nucleotide variant Inborn genetic diseases [RCV003179844] Chr3:59922348 [GRCh38]
Chr3:59908074 [GRCh37]
Chr3:3p14.2		 likely benign
NM_002012.4(FHIT):c.199A>G (p.Thr67Ala) single nucleotide variant Inborn genetic diseases [RCV003361214] Chr3:60014057 [GRCh38]
Chr3:59999783 [GRCh37]
Chr3:3p14.2		 uncertain significance
GRCh37/hg19 3p14.2(chr3:60750120-60850878)x1 copy number loss not provided [RCV003485390] Chr3:60750120..60850878 [GRCh37]
Chr3:3p14.2		 uncertain significance
NM_002012.4(FHIT):c.301C>T (p.Pro101Ser) single nucleotide variant FHIT-related condition [RCV003944404] Chr3:59922393 [GRCh38]
Chr3:59908119 [GRCh37]
Chr3:3p14.2		 likely benign
NM_002012.4(FHIT):c.104-64T>C single nucleotide variant FHIT-related condition [RCV003979103] Chr3:60014216 [GRCh38]
Chr3:59999942 [GRCh37]
Chr3:3p14.2		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR625hsa-miR-625-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21711110
MIR217hsa-miR-217Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21711110
MIR143hsa-miR-143-3pOncomiRDBexternal_infoNANA21711110
MIR143hsa-miR-143-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21711110
MIR331hsa-miR-331-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21711110

Predicted Target Of
Summary Value
Count of predictions:1410
Count of miRNA genes:738
Interacting mature miRNAs:824
Transcripts:ENST00000341848, ENST00000465330, ENST00000466788, ENST00000468189, ENST00000476844, ENST00000488467, ENST00000490952, ENST00000492590
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D3S1234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,107,383 - 60,107,493UniSTSGRCh37
Celera360,120,750 - 60,120,860UniSTS
Cytogenetic Map3p14.2UniSTS
HuRef360,203,703 - 60,203,813UniSTS
Marshfield Genetic Map378.64UniSTS
Marshfield Genetic Map378.64RGD
deCODE Assembly Map381.23UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S3631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,896,838 - 60,897,112UniSTSGRCh37
Build 36360,871,878 - 60,872,152RGDNCBI36
Celera360,909,823 - 60,910,099RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,995,439 - 60,995,717UniSTS
Marshfield Genetic Map382.24UniSTS
Marshfield Genetic Map382.24RGD
Genethon Genetic Map380.9UniSTS
TNG Radiation Hybrid Map337463.0UniSTS
deCODE Assembly Map383.57UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S1300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,510,016 - 60,510,170UniSTSGRCh37
GRCh37360,509,907 - 60,510,149UniSTSGRCh37
Build 36360,485,056 - 60,485,210RGDNCBI36
Celera360,523,422 - 60,523,576RGD
Celera360,523,321 - 60,523,555UniSTS
Cytogenetic Map3p14.2UniSTS
HuRef360,606,192 - 60,606,424UniSTS
HuRef360,606,291 - 60,606,445UniSTS
Marshfield Genetic Map380.32RGD
Genethon Genetic Map379.0UniSTS
TNG Radiation Hybrid Map337101.0UniSTS
deCODE Assembly Map382.22UniSTS
Stanford-G3 RH Map32815.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3559.9UniSTS
GeneMap99-G3 RH Map32713.0UniSTS
SHGC-77059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,735,051 - 59,735,176UniSTSGRCh37
Build 36359,710,091 - 59,710,216RGDNCBI36
Celera359,748,625 - 59,748,750RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,831,191 - 59,831,316UniSTS
TNG Radiation Hybrid Map336672.0UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
Whitehead-RH Map3224.2UniSTS
D3S2984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,025,818 - 61,026,094UniSTSGRCh37
Build 36361,000,858 - 61,001,134RGDNCBI36
Celera361,038,791 - 61,039,067RGD
Cytogenetic Map3p14.2UniSTS
HuRef361,124,384 - 61,124,660UniSTS
Whitehead-RH Map3229.7UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3559.9UniSTS
SHGC-58369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,017,404 - 61,017,542UniSTSGRCh37
Build 36360,992,444 - 60,992,582RGDNCBI36
Celera361,030,377 - 61,030,515RGD
Cytogenetic Map3p14.2UniSTS
HuRef361,115,969 - 61,116,107UniSTS
TNG Radiation Hybrid Map337497.0UniSTS
STS-N70372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,644,742 - 60,644,936UniSTSGRCh37
Build 36360,619,782 - 60,619,976RGDNCBI36
Celera360,658,162 - 60,658,356RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,742,140 - 60,742,334UniSTS
TNG Radiation Hybrid Map337021.0UniSTS
GeneMap99-GB4 RH Map3198.12UniSTS
SHGC-78605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,047,753 - 60,048,040UniSTSGRCh37
Build 36360,022,793 - 60,023,080RGDNCBI36
Celera360,061,164 - 60,061,451RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,144,165 - 60,144,452UniSTS
TNG Radiation Hybrid Map336765.0UniSTS
SHGC-83813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,518,285 - 60,518,615UniSTSGRCh37
Build 36360,493,325 - 60,493,655RGDNCBI36
Celera360,531,690 - 60,532,020RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,614,563 - 60,614,893UniSTS
TNG Radiation Hybrid Map337097.0UniSTS
SHGC-80066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,249,363 - 60,249,642UniSTSGRCh37
Build 36360,224,403 - 60,224,682RGDNCBI36
Celera360,262,747 - 60,263,026RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,345,658 - 60,345,937UniSTS
TNG Radiation Hybrid Map336901.0UniSTS
SHGC-82698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,356,267 - 60,356,538UniSTSGRCh37
Build 36360,331,307 - 60,331,578RGDNCBI36
Celera360,369,710 - 60,369,981RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,452,568 - 60,452,839UniSTS
TNG Radiation Hybrid Map337151.0UniSTS
SHGC-80947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,405,673 - 60,405,946UniSTSGRCh37
Build 36360,380,713 - 60,380,986RGDNCBI36
Celera360,419,089 - 60,419,362RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,501,942 - 60,502,215UniSTS
TNG Radiation Hybrid Map337138.0UniSTS
RH119292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,010,373 - 61,010,716UniSTSGRCh37
Build 36360,985,413 - 60,985,756RGDNCBI36
Celera361,023,346 - 61,023,689RGD
Cytogenetic Map3p14.2UniSTS
HuRef361,108,938 - 61,109,281UniSTS
TNG Radiation Hybrid Map337489.0UniSTS
RH123369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,115,264 - 61,115,598UniSTSGRCh37
Build 36361,090,304 - 61,090,638RGDNCBI36
Celera361,128,239 - 61,128,573RGD
Cytogenetic Map3p14.2UniSTS
HuRef361,213,925 - 61,214,259UniSTS
TNG Radiation Hybrid Map337540.0UniSTS
G59179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,811,199 - 59,811,535UniSTSGRCh37
Build 36359,786,239 - 59,786,575RGDNCBI36
Celera359,824,689 - 59,825,025RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,907,313 - 59,907,649UniSTS
G59345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,819,938 - 59,820,185UniSTSGRCh37
Build 36359,794,978 - 59,795,225RGDNCBI36
Celera359,833,432 - 59,833,679RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,916,058 - 59,916,305UniSTS
TNG Radiation Hybrid Map336705.0UniSTS
G49403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,747,052 - 59,747,316UniSTSGRCh37
Build 36359,722,092 - 59,722,356RGDNCBI36
Celera359,760,626 - 59,760,890RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,843,185 - 59,843,449UniSTS
G49406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,801,439 - 59,801,653UniSTSGRCh37
Build 36359,776,479 - 59,776,693RGDNCBI36
Celera359,814,928 - 59,815,142RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,897,551 - 59,897,765UniSTS
D3S1480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,861,518 - 60,861,684UniSTSGRCh37
GRCh37360,861,444 - 60,861,684UniSTSGRCh37
Build 36360,836,484 - 60,836,724RGDNCBI36
Celera360,874,446 - 60,874,686RGD
Celera360,874,520 - 60,874,686UniSTS
HuRef360,960,045 - 60,960,285UniSTS
HuRef360,960,119 - 60,960,285UniSTS
D3S1481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,658,590 - 60,658,671UniSTSGRCh37
Build 36360,633,630 - 60,633,711RGDNCBI36
Celera360,672,021 - 60,672,112RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,756,047 - 60,756,146UniSTS
D3S2757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,539,147 - 60,539,473UniSTSGRCh37
Build 36360,514,187 - 60,514,513RGDNCBI36
Celera360,552,556 - 60,552,878RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,636,493 - 60,636,813UniSTS
D3S3155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,487,991 - 60,488,305UniSTSGRCh37
Build 36360,463,031 - 60,463,345RGDNCBI36
Celera360,501,406 - 60,501,720RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,584,285 - 60,584,599UniSTS
SHGC-111527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,968,503 - 60,968,750UniSTSGRCh37
Build 36360,943,543 - 60,943,790RGDNCBI36
Celera360,981,492 - 60,981,739RGD
Cytogenetic Map3p14.2UniSTS
HuRef361,067,079 - 61,067,326UniSTS
TNG Radiation Hybrid Map337469.0UniSTS
SHGC-145137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,041,578 - 60,041,867UniSTSGRCh37
Build 36360,016,618 - 60,016,907RGDNCBI36
Celera360,054,990 - 60,055,279RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,137,992 - 60,138,281UniSTS
TNG Radiation Hybrid Map336770.0UniSTS
SHGC-77051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,098,009 - 61,098,241UniSTSGRCh37
Build 36361,073,049 - 61,073,281RGDNCBI36
Celera361,110,985 - 61,111,217RGD
Cytogenetic Map3p14.2UniSTS
HuRef361,196,667 - 61,196,899UniSTS
TNG Radiation Hybrid Map337531.0UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
STS-T91564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,899,395 - 60,899,525UniSTSGRCh37
Build 36360,874,435 - 60,874,565RGDNCBI36
Celera360,912,382 - 60,912,512RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,998,000 - 60,998,130UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
NCBI RH Map3556.9UniSTS
SHGC-33999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,860,428 - 59,860,529UniSTSGRCh37
Build 36359,835,468 - 59,835,569RGDNCBI36
Celera359,873,928 - 59,874,029RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,956,555 - 59,956,656UniSTS
Stanford-G3 RH Map32778.0UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
Whitehead-RH Map3231.4UniSTS
NCBI RH Map3559.9UniSTS
GeneMap99-G3 RH Map32676.0UniSTS
SHGC-13229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,975,450 - 59,975,740UniSTSGRCh37
Build 36359,950,490 - 59,950,780RGDNCBI36
Celera359,988,854 - 59,989,144RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,071,841 - 60,072,131UniSTS
SHGC-86352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,964,523 - 59,964,732UniSTSGRCh37
Build 36359,939,563 - 59,939,772RGDNCBI36
Celera359,978,030 - 59,978,239RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,060,538 - 60,060,747UniSTS
TNG Radiation Hybrid Map336813.0UniSTS
D3S3424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,072,215 - 61,072,366UniSTSGRCh37
Build 36361,047,255 - 61,047,406RGDNCBI36
Celera361,085,191 - 61,085,342RGD
Cytogenetic Map3p14.2UniSTS
HuRef361,170,874 - 61,171,025UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S3378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,762,236 - 59,762,385UniSTSGRCh37
Build 36359,737,276 - 59,737,425RGDNCBI36
Celera359,775,772 - 59,775,921RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,858,335 - 59,858,484UniSTS
Whitehead-RH Map3224.3UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3594.2UniSTS
L18045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,681,690 - 60,681,983UniSTSGRCh37
Build 36360,656,730 - 60,657,023RGDNCBI36
Celera360,695,137 - 60,695,430RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,779,171 - 60,779,464UniSTS
REN111724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377126,310,449 - 126,310,688UniSTSGRCh37
GRCh37360,763,875 - 60,764,113UniSTSGRCh37
Build 36360,738,915 - 60,739,153RGDNCBI36
Celera360,777,296 - 60,777,533RGD
Celera7121,111,762 - 121,112,001UniSTS
HuRef7120,670,764 - 120,671,003UniSTS
HuRef360,861,673 - 60,861,910UniSTS
CRA_TCAGchr7v27125,693,516 - 125,693,755UniSTS
D3S4091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,385,790 - 60,386,046UniSTSGRCh37
Build 36360,360,830 - 60,361,086RGDNCBI36
HuRef360,482,076 - 60,482,332UniSTS
D3S4092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,458,430 - 60,458,570UniSTSGRCh37
Build 36360,433,470 - 60,433,610RGDNCBI36
Celera360,471,845 - 60,471,985RGD
HuRef360,554,603 - 60,554,743UniSTS
D3S4093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,844,093 - 60,844,292UniSTSGRCh37
Build 36360,819,133 - 60,819,332RGDNCBI36
Celera360,857,547 - 60,857,746RGD
HuRef360,941,868 - 60,942,067UniSTS
D3S4102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,464,154 - 60,464,384UniSTSGRCh37
Build 36360,439,194 - 60,439,424RGDNCBI36
Celera360,477,569 - 60,477,799RGD
HuRef360,560,327 - 60,560,557UniSTS
D3S4103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,432,542 - 60,432,664UniSTSGRCh37
Build 36360,407,582 - 60,407,704RGDNCBI36
Celera360,445,957 - 60,446,079RGD
HuRef360,528,783 - 60,528,905UniSTS
D3S4260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,780,079 - 60,780,298UniSTSGRCh37
Build 36360,755,119 - 60,755,338RGDNCBI36
Celera360,793,477 - 60,793,695RGD
HuRef360,877,846 - 60,878,068UniSTS
D3S4430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,855,852 - 60,855,971UniSTSGRCh37
Build 36360,830,892 - 60,831,011RGDNCBI36
Celera360,868,857 - 60,868,974RGD
HuRef360,954,454 - 60,954,571UniSTS
D3S4431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,849,878 - 60,849,983UniSTSGRCh37
Build 36360,824,918 - 60,825,023RGDNCBI36
Celera360,862,883 - 60,862,988RGD
HuRef360,948,480 - 60,948,585UniSTS
D3S4433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,839,716 - 60,839,825UniSTSGRCh37
Build 36360,814,756 - 60,814,865RGDNCBI36
Celera360,853,168 - 60,853,277RGD
HuRef360,937,489 - 60,937,598UniSTS
D3S4434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,855,267 - 60,855,454UniSTSGRCh37
Build 36360,830,307 - 60,830,494RGDNCBI36
Celera360,868,272 - 60,868,459RGD
HuRef360,953,869 - 60,954,056UniSTS
D3S4436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,840,305 - 60,841,119UniSTSGRCh37
Build 36360,815,345 - 60,816,159RGDNCBI36
Celera360,853,759 - 60,854,573RGD
HuRef360,938,080 - 60,938,894UniSTS
D3S4437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,841,095 - 60,841,329UniSTSGRCh37
Build 36360,816,135 - 60,816,369RGDNCBI36
Celera360,854,549 - 60,854,783RGD
HuRef360,938,870 - 60,939,104UniSTS
D3S4438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,841,313 - 60,841,810UniSTSGRCh37
Build 36360,816,353 - 60,816,850RGDNCBI36
Celera360,854,767 - 60,855,264RGD
HuRef360,939,088 - 60,939,585UniSTS
D3S4459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,768,231 - 59,768,331UniSTSGRCh37
Build 36359,743,271 - 59,743,371RGDNCBI36
Celera359,781,767 - 59,781,867RGD
HuRef359,864,331 - 59,864,431UniSTS
D3S4460E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,236,776 - 61,237,116UniSTSGRCh37
Build 36361,211,816 - 61,212,156RGDNCBI36
Celera361,249,747 - 61,250,087RGD
HuRef361,335,272 - 61,335,612UniSTS
D3S4461E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,186,166 - 61,186,485UniSTSGRCh37
Build 36361,161,206 - 61,161,525RGDNCBI36
Celera361,199,133 - 61,199,452RGD
HuRef361,284,830 - 61,285,149UniSTS
D3S4462E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,049,344 - 61,049,591UniSTSGRCh37
Build 36361,024,384 - 61,024,631RGDNCBI36
Celera361,062,321 - 61,062,568RGD
HuRef361,147,998 - 61,148,246UniSTS
D3S4463E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,807,547 - 60,807,769UniSTSGRCh37
Build 36360,782,587 - 60,782,809RGDNCBI36
Celera360,820,995 - 60,821,217RGD
HuRef360,905,366 - 60,905,588UniSTS
D3S4464E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,522,527 - 60,522,828UniSTSGRCh37
Build 36360,497,567 - 60,497,868RGDNCBI36
Celera360,535,929 - 60,536,230RGD
HuRef360,618,807 - 60,619,108UniSTS
D3S4465E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,999,659 - 59,999,970UniSTSGRCh37
Build 36359,974,699 - 59,975,010RGDNCBI36
Celera360,013,061 - 60,013,372RGD
HuRef360,096,031 - 60,096,342UniSTS
D3S4466E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,996,955 - 59,997,258UniSTSGRCh37
Build 36359,971,995 - 59,972,298RGDNCBI36
Celera360,010,357 - 60,010,660RGD
HuRef360,093,333 - 60,093,636UniSTS
D3S4467E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,908,007 - 59,908,231UniSTSGRCh37
Build 36359,883,047 - 59,883,271RGDNCBI36
Celera359,921,512 - 59,921,736RGD
HuRef360,004,080 - 60,004,304UniSTS
D3S4468E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,737,866 - 59,738,103UniSTSGRCh37
Build 36359,712,906 - 59,713,143RGDNCBI36
Celera359,751,440 - 59,751,677RGD
HuRef359,834,003 - 59,834,240UniSTS
D3S4469E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,735,164 - 59,735,381UniSTSGRCh37
Build 36359,710,204 - 59,710,421RGDNCBI36
Celera359,748,738 - 59,748,956RGD
HuRef359,831,304 - 59,831,522UniSTS
D3S4471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,941,829 - 59,941,955UniSTSGRCh37
Build 36359,916,869 - 59,916,995RGDNCBI36
Celera359,955,338 - 59,955,464RGD
HuRef360,037,902 - 60,038,028UniSTS
D3S4472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,977,509 - 59,977,622UniSTSGRCh37
Build 36359,952,549 - 59,952,662RGDNCBI36
Celera359,990,911 - 59,991,024RGD
HuRef360,073,898 - 60,074,011UniSTS
D3S4473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,015,318 - 60,015,429UniSTSGRCh37
Build 36359,990,358 - 59,990,469RGDNCBI36
Celera360,028,719 - 60,028,830RGD
HuRef360,111,716 - 60,111,827UniSTS
D3S4474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,523,318 - 60,523,482UniSTSGRCh37
Build 36360,498,358 - 60,498,522RGDNCBI36
Celera360,536,720 - 60,536,884RGD
HuRef360,619,598 - 60,619,762UniSTS
D3S4477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,371,813 - 60,371,992UniSTSGRCh37
Build 36360,346,853 - 60,347,032RGDNCBI36
Celera360,385,249 - 60,385,428RGD
HuRef360,468,102 - 60,468,281UniSTS
D3S4478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,403,219 - 60,403,457UniSTSGRCh37
Build 36360,378,259 - 60,378,497RGDNCBI36
Celera360,416,648 - 60,416,886RGD
HuRef360,499,501 - 60,499,739UniSTS
D3S4479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,432,794 - 60,433,004UniSTSGRCh37
Build 36360,407,834 - 60,408,044RGDNCBI36
Celera360,446,209 - 60,446,419RGD
HuRef360,529,035 - 60,529,245UniSTS
D3S4481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,548,938 - 60,549,108UniSTSGRCh37
Build 36360,523,978 - 60,524,148RGDNCBI36
Celera360,562,343 - 60,562,513RGD
HuRef360,646,280 - 60,646,450UniSTS
D3S4482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,509,401 - 60,509,625UniSTSGRCh37
Build 36360,484,441 - 60,484,665RGDNCBI36
Celera360,522,815 - 60,523,039RGD
HuRef360,605,686 - 60,605,910UniSTS
D3S4483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,814,618 - 60,814,806UniSTSGRCh37
Build 36360,789,658 - 60,789,846RGDNCBI36
Celera360,828,076 - 60,828,264RGD
HuRef360,912,412 - 60,912,600UniSTS
D3S4485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,179,984 - 61,180,245UniSTSGRCh37
Build 36361,155,024 - 61,155,285RGDNCBI36
Celera361,192,957 - 61,193,218RGD
HuRef361,278,656 - 61,278,917UniSTS
D3S4486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,220,790 - 61,221,004UniSTSGRCh37
Build 36361,195,830 - 61,196,044RGDNCBI36
Celera361,233,758 - 61,233,972RGD
HuRef361,319,285 - 61,319,499UniSTS
D3S4487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,236,417 - 61,236,642UniSTSGRCh37
Build 36361,211,457 - 61,211,682RGDNCBI36
Celera361,249,388 - 61,249,613RGD
HuRef361,334,913 - 61,335,138UniSTS
D3S4488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,219,614 - 61,219,785UniSTSGRCh37
Build 36361,194,654 - 61,194,825RGDNCBI36
Celera361,232,582 - 61,232,753RGD
HuRef361,318,109 - 61,318,280UniSTS
D3S4489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,766,881 - 60,767,029UniSTSGRCh37
Build 36360,741,921 - 60,742,069RGDNCBI36
Celera360,780,300 - 60,780,448RGD
HuRef360,864,677 - 60,864,825UniSTS
D3S4490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37361,225,399 - 61,225,599UniSTSGRCh37
Build 36361,200,439 - 61,200,639RGDNCBI36
Celera361,238,367 - 61,238,583RGD
HuRef361,323,894 - 61,324,114UniSTS
D3S3136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,459,817 - 60,459,932UniSTSGRCh37
Build 36360,434,857 - 60,434,972RGDNCBI36
Celera360,473,232 - 60,473,347RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,555,990 - 60,556,105UniSTS
D3S2977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,259,746 - 60,259,888UniSTSGRCh37
Build 36360,234,786 - 60,234,928RGDNCBI36
Celera360,273,129 - 60,273,271RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,356,041 - 60,356,183UniSTS
Whitehead-YAC Contig Map3 UniSTS
STS-AA004994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,315,134 - 60,315,215UniSTSGRCh37
Build 36360,290,174 - 60,290,255RGDNCBI36
Celera360,328,586 - 60,328,667RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,411,452 - 60,411,533UniSTS
GeneMap99-GB4 RH Map3200.36UniSTS
AFMA285ZB5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,799,653 - 59,799,845UniSTSGRCh37
Build 36359,774,693 - 59,774,885RGDNCBI36
Celera359,813,142 - 59,813,334RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,895,765 - 59,895,957UniSTS
Whitehead-YAC Contig Map3 UniSTS
RH16423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,860,468 - 59,860,636UniSTSGRCh37
Build 36359,835,508 - 59,835,676RGDNCBI36
Celera359,873,968 - 59,874,136RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,956,595 - 59,956,763UniSTS
GeneMap99-GB4 RH Map3198.12UniSTS
NCBI RH Map3552.1UniSTS
RH36473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,225,541 - 60,225,731UniSTSGRCh37
Build 36360,200,581 - 60,200,771RGDNCBI36
Celera360,238,921 - 60,239,111RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,321,833 - 60,322,023UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
NCBI RH Map3559.9UniSTS
D3S3367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,322,366 - 60,322,492UniSTSGRCh37
Build 36360,297,406 - 60,297,532RGDNCBI36
Celera360,335,816 - 60,335,942RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,418,681 - 60,418,807UniSTS
Whitehead-YAC Contig Map3 UniSTS
RH46243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,994,493 - 60,994,613UniSTSGRCh37
Build 36360,969,533 - 60,969,653RGDNCBI36
Celera361,007,466 - 61,007,586RGD
Cytogenetic Map3p14.2UniSTS
HuRef361,093,056 - 61,093,176UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
SHGC-77038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37360,370,313 - 60,370,421UniSTSGRCh37
Build 36360,345,353 - 60,345,461RGDNCBI36
Celera360,383,749 - 60,383,857RGD
Cytogenetic Map3p14.2UniSTS
HuRef360,466,615 - 60,466,723UniSTS
TNG Radiation Hybrid Map337160.0UniSTS
GeneMap99-GB4 RH Map3197.21UniSTS
D3S3356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,878,019 - 59,878,193UniSTSGRCh37
Build 36359,853,059 - 59,853,233RGDNCBI36
Celera359,891,521 - 59,891,695RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,974,150 - 59,974,324UniSTS
Whitehead-RH Map3229.7UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3559.9UniSTS
G69476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37359,761,643 - 59,761,932UniSTSGRCh37
Build 36359,736,683 - 59,736,972RGDNCBI36
Celera359,775,179 - 59,775,468RGD
Cytogenetic Map3p14.2UniSTS
HuRef359,857,742 - 59,858,031UniSTS
D17S610  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map10q21.1UniSTS
D3S1480  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p14.2UniSTS
D3S1300  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p14.2UniSTS
Marshfield Genetic Map380.32UniSTS
Genethon Genetic Map379.0UniSTS
deCODE Assembly Map382.22UniSTS
Whitehead-YAC Contig Map3 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 14 32 148 20 60 20 16 6 29 25 54 110 3 8 2
Low 2414 2816 1559 587 1775 427 4241 2066 3664 383 1371 1448 164 1 1199 2713 6
Below cutoff 9 143 19 17 113 17 97 125 41 9 34 51 5 5 67

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC132808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF023460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF399855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY625256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE246370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA239143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB131595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB477833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ120721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ416125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ416126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ474250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ666916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ666917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ666918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ666919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ666920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ666921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ666922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ666923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ666924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ768456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ768457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ768458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ865131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ865132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ865133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ865134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF183457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF183458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF183459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF183460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF183461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF183462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF183463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF183464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF186677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN344061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U06118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U85047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U88866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000341848   ⟹   ENSP00000342087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl360,011,371 - 60,014,150 (-)Ensembl
RefSeq Acc Id: ENST00000465330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl361,244,010 - 61,251,412 (-)Ensembl
RefSeq Acc Id: ENST00000466788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl359,749,702 - 60,080,840 (-)Ensembl
RefSeq Acc Id: ENST00000468189   ⟹   ENSP00000417480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl359,751,407 - 61,251,459 (-)Ensembl
RefSeq Acc Id: ENST00000476844   ⟹   ENSP00000417557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl359,749,310 - 61,251,413 (-)Ensembl
RefSeq Acc Id: ENST00000488467   ⟹   ENSP00000418596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl360,014,020 - 61,251,413 (-)Ensembl
RefSeq Acc Id: ENST00000490952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl360,535,810 - 61,251,384 (-)Ensembl
RefSeq Acc Id: ENST00000492590   ⟹   ENSP00000418582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl359,747,277 - 61,251,452 (-)Ensembl
RefSeq Acc Id: NM_001166243   ⟹   NP_001159715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38359,747,277 - 61,251,452 (-)NCBI
GRCh37359,735,036 - 61,237,133 (-)NCBI
HuRef359,831,176 - 61,335,629 (-)ENTREZGENE
CHM1_1359,683,554 - 61,187,678 (-)NCBI
T2T-CHM13v2.0359,787,636 - 61,294,609 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320899   ⟹   NP_001307828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38359,747,277 - 61,251,452 (-)NCBI
CHM1_1359,683,554 - 61,187,678 (-)NCBI
T2T-CHM13v2.0359,787,636 - 61,294,609 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320900   ⟹   NP_001307829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38359,747,277 - 61,251,452 (-)NCBI
CHM1_1359,683,554 - 61,187,678 (-)NCBI
T2T-CHM13v2.0359,787,636 - 61,294,609 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320901   ⟹   NP_001307830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38359,747,277 - 60,080,909 (-)NCBI
CHM1_1359,683,554 - 60,017,447 (-)NCBI
T2T-CHM13v2.0359,787,636 - 60,122,483 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354589   ⟹   NP_001341518
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38359,747,277 - 61,251,452 (-)NCBI
T2T-CHM13v2.0359,787,636 - 61,294,609 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354590   ⟹   NP_001341519
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38359,747,277 - 61,251,452 (-)NCBI
T2T-CHM13v2.0359,787,636 - 61,294,609 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002012   ⟹   NP_002003
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38359,747,277 - 61,251,452 (-)NCBI
GRCh37359,735,036 - 61,237,133 (-)ENTREZGENE
GRCh37359,735,036 - 61,237,133 (-)NCBI
Build 36359,710,076 - 61,212,164 (-)NCBI Archive
HuRef359,831,176 - 61,335,629 (-)ENTREZGENE
CHM1_1359,683,554 - 61,187,678 (-)NCBI
T2T-CHM13v2.0359,787,636 - 61,294,609 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135491
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38359,747,277 - 60,080,909 (-)NCBI
CHM1_1359,683,554 - 60,017,447 (-)NCBI
T2T-CHM13v2.0359,787,636 - 60,122,483 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148921
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38360,699,795 - 61,251,452 (-)NCBI
T2T-CHM13v2.0360,742,480 - 61,294,609 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148922
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38360,888,253 - 61,251,452 (-)NCBI
T2T-CHM13v2.0360,931,442 - 61,294,609 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001159715 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307829 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307830 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341518 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341519 (Get FASTA)   NCBI Sequence Viewer  
  NP_002003 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA99013 (Get FASTA)   NCBI Sequence Viewer  
  AAB52539 (Get FASTA)   NCBI Sequence Viewer  
  AAB53793 (Get FASTA)   NCBI Sequence Viewer  
  AAB84098 (Get FASTA)   NCBI Sequence Viewer  
  AAH32336 (Get FASTA)   NCBI Sequence Viewer  
  AAT37530 (Get FASTA)   NCBI Sequence Viewer  
  AAZ23623 (Get FASTA)   NCBI Sequence Viewer  
  ABD93870 (Get FASTA)   NCBI Sequence Viewer  
  ABD93871 (Get FASTA)   NCBI Sequence Viewer  
  ABG02271 (Get FASTA)   NCBI Sequence Viewer  
  ABG02272 (Get FASTA)   NCBI Sequence Viewer  
  ABG02273 (Get FASTA)   NCBI Sequence Viewer  
  ABG02274 (Get FASTA)   NCBI Sequence Viewer  
  ABG02275 (Get FASTA)   NCBI Sequence Viewer  
  ABG81420 (Get FASTA)   NCBI Sequence Viewer  
  ABI15739 (Get FASTA)   NCBI Sequence Viewer  
  ABI15740 (Get FASTA)   NCBI Sequence Viewer  
  ABI15741 (Get FASTA)   NCBI Sequence Viewer  
  ABI15742 (Get FASTA)   NCBI Sequence Viewer  
  ABM65879 (Get FASTA)   NCBI Sequence Viewer  
  ABM66086 (Get FASTA)   NCBI Sequence Viewer  
  ABM66087 (Get FASTA)   NCBI Sequence Viewer  
  ABM66088 (Get FASTA)   NCBI Sequence Viewer  
  ABM66089 (Get FASTA)   NCBI Sequence Viewer  
  ABM66090 (Get FASTA)   NCBI Sequence Viewer  
  ABM66091 (Get FASTA)   NCBI Sequence Viewer  
  ABM66092 (Get FASTA)   NCBI Sequence Viewer  
  ABM66093 (Get FASTA)   NCBI Sequence Viewer  
  AHW56475 (Get FASTA)   NCBI Sequence Viewer  
  BAF82513 (Get FASTA)   NCBI Sequence Viewer  
  CAY55966 (Get FASTA)   NCBI Sequence Viewer  
  EAW65393 (Get FASTA)   NCBI Sequence Viewer  
  EAW65394 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000417480
  ENSP00000417480.1
  ENSP00000417557
  ENSP00000417557.1
  ENSP00000418582
  ENSP00000418582.1
  ENSP00000418596.1
GenBank Protein P49789 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001159715   ⟸   NM_001166243
- Peptide Label: isoform 1
- UniProtKB: Q45QG9 (UniProtKB/Swiss-Prot),   A8K1A9 (UniProtKB/Swiss-Prot),   A2IAT6 (UniProtKB/Swiss-Prot),   A2IAT0 (UniProtKB/Swiss-Prot),   A2IAS9 (UniProtKB/Swiss-Prot),   Q6IU12 (UniProtKB/Swiss-Prot),   P49789 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002003   ⟸   NM_002012
- Peptide Label: isoform 1
- UniProtKB: Q45QG9 (UniProtKB/Swiss-Prot),   A8K1A9 (UniProtKB/Swiss-Prot),   A2IAT6 (UniProtKB/Swiss-Prot),   A2IAT0 (UniProtKB/Swiss-Prot),   A2IAS9 (UniProtKB/Swiss-Prot),   Q6IU12 (UniProtKB/Swiss-Prot),   P49789 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307828   ⟸   NM_001320899
- Peptide Label: isoform 1
- UniProtKB: Q45QG9 (UniProtKB/Swiss-Prot),   A8K1A9 (UniProtKB/Swiss-Prot),   A2IAT6 (UniProtKB/Swiss-Prot),   A2IAT0 (UniProtKB/Swiss-Prot),   A2IAS9 (UniProtKB/Swiss-Prot),   Q6IU12 (UniProtKB/Swiss-Prot),   P49789 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307829   ⟸   NM_001320900
- Peptide Label: isoform 1
- UniProtKB: Q45QG9 (UniProtKB/Swiss-Prot),   A8K1A9 (UniProtKB/Swiss-Prot),   A2IAT6 (UniProtKB/Swiss-Prot),   A2IAT0 (UniProtKB/Swiss-Prot),   A2IAS9 (UniProtKB/Swiss-Prot),   Q6IU12 (UniProtKB/Swiss-Prot),   P49789 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307830   ⟸   NM_001320901
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001341518   ⟸   NM_001354589
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001341519   ⟸   NM_001354590
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000418582   ⟸   ENST00000492590
RefSeq Acc Id: ENSP00000417480   ⟸   ENST00000468189
RefSeq Acc Id: ENSP00000342087   ⟸   ENST00000341848
RefSeq Acc Id: ENSP00000418596   ⟸   ENST00000488467
RefSeq Acc Id: ENSP00000417557   ⟸   ENST00000476844
Protein Domains
HIT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49789-F1-model_v2 AlphaFold P49789 1-147 view protein structure

Promoters
RGD ID:6864850
Promoter ID:EPDNEW_H5590
Type:multiple initiation site
Name:FHIT_2
Description:fragile histidine triad
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5591  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38361,196,084 - 61,196,144EPDNEW
RGD ID:6801043
Promoter ID:HG_KWN:45403
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001166243,   NM_002012,   UC010HNN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36361,211,711 - 61,212,362 (-)MPROMDB
RGD ID:6864852
Promoter ID:EPDNEW_H5591
Type:initiation region
Name:FHIT_1
Description:fragile histidine triad
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5590  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38361,251,452 - 61,251,512EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3701 AgrOrtholog
COSMIC FHIT COSMIC
Ensembl Genes ENSG00000189283 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000468189 ENTREZGENE
  ENST00000468189.5 UniProtKB/Swiss-Prot
  ENST00000476844 ENTREZGENE
  ENST00000476844.5 UniProtKB/Swiss-Prot
  ENST00000488467.5 UniProtKB/TrEMBL
  ENST00000492590 ENTREZGENE
  ENST00000492590.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.428.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000189283 GTEx
HGNC ID HGNC:3701 ENTREZGENE
Human Proteome Map FHIT Human Proteome Map
InterPro FHIT UniProtKB/Swiss-Prot
  Histidine_triad_CS UniProtKB/Swiss-Prot
  HIT-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIT-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2272 UniProtKB/Swiss-Prot
NCBI Gene 2272 ENTREZGENE
OMIM 601153 OMIM
PANTHER BIS(5'-ADENOSYL)-TRIPHOSPHATASE UniProtKB/Swiss-Prot
  BIS(5'-ADENOSYL)-TRIPHOSPHATASE UniProtKB/Swiss-Prot
  BIS(5'-ADENOSYL)-TRIPHOSPHATASE UniProtKB/TrEMBL
  BIS(5'-ADENOSYL)-TRIPHOSPHATASE UniProtKB/TrEMBL
Pfam HIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28140 PharmGKB
PROSITE HIT_1 UniProtKB/Swiss-Prot
  HIT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54197 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2IAS9 ENTREZGENE
  A2IAT0 ENTREZGENE
  A2IAT6 ENTREZGENE
  A8K1A9 ENTREZGENE
  E9PBZ0_HUMAN UniProtKB/TrEMBL
  FHIT_HUMAN UniProtKB/Swiss-Prot
  O00298_HUMAN UniProtKB/TrEMBL
  P49789 ENTREZGENE
  Q0MQR8_HUMAN UniProtKB/TrEMBL
  Q0PUW1_HUMAN UniProtKB/TrEMBL
  Q194U8_HUMAN UniProtKB/TrEMBL
  Q194U9_HUMAN UniProtKB/TrEMBL
  Q194V0_HUMAN UniProtKB/TrEMBL
  Q1WAB3_HUMAN UniProtKB/TrEMBL
  Q1WAB4_HUMAN UniProtKB/TrEMBL
  Q45QG9 ENTREZGENE
  Q5G284_HUMAN UniProtKB/TrEMBL
  Q6IU12 ENTREZGENE
  Q71VB2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A2IAS9 UniProtKB/Swiss-Prot
  A2IAT0 UniProtKB/Swiss-Prot
  A2IAT6 UniProtKB/Swiss-Prot
  A8K1A9 UniProtKB/Swiss-Prot
  Q45QG9 UniProtKB/Swiss-Prot
  Q6IU12 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-30 FHIT  fragile histidine triad diadenosine triphosphatase  FHIT  fragile histidine triad  Symbol and/or name change 5135510 APPROVED
2017-08-16 FHIT  fragile histidine triad  FRA3B  fragile site, aphidicolin type, common, fra(3)(p14.2)  Data merged from RGD:1346932 737654 PROVISIONAL
2012-03-01 FHIT  fragile histidine triad  FHIT  fragile histidine triad gene  Symbol and/or name change 5135510 APPROVED