GTF2H1 (general transcription factor IIH subunit 1) - Rat Genome Database

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Gene: GTF2H1 (general transcription factor IIH subunit 1) Homo sapiens
Analyze
Symbol: GTF2H1
Name: general transcription factor IIH subunit 1
RGD ID: 1317878
HGNC Page HGNC:4655
Description: Enables nuclear thyroid hormone receptor binding activity. Involved in positive regulation of DNA-templated transcription and transcription initiation at RNA polymerase II promoter. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: basic transcription factor 2 62 kDa subunit; BTF2; BTF2 p62; general transcription factor IIH polypeptide 1; general transcription factor IIH, polypeptide 1, 62kDa; P62; TFB1; TFIIH; TFIIH basal transcription factor complex p62 subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC342784  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381118,322,567 - 18,367,045 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1118,322,295 - 18,367,045 (+)Ensemblhg38GRCh38
GRCh371118,344,114 - 18,388,592 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,300,719 - 18,345,153 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341118,300,718 - 18,345,152NCBI
Celera1118,476,032 - 18,520,801 (+)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1118,026,329 - 18,071,105 (+)NCBIHuRef
CHM1_11118,343,304 - 18,388,093 (+)NCBICHM1_1
T2T-CHM13v2.01118,418,103 - 18,462,582 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
aluminium sulfate (anhydrous)  (EXP)
Aroclor 1254  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol AF  (ISO)
cadmium dichloride  (ISO)
chromium(6+)  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
decabromodiphenyl ether  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenthion  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
hydrogen peroxide  (EXP)
L-ascorbic acid  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
nitrates  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP)
pentachlorophenol  (ISO)
phenylmercury acetate  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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. TFIIH: when transcription met DNA repair. Compe E and Egly JM, Nat Rev Mol Cell Biol. 2012 May 10;13(6):343-54. doi: 10.1038/nrm3350.
2. A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor. Egly JM and Coin F, DNA Repair (Amst). 2011 Jul 15;10(7):714-21. doi: 10.1016/j.dnarep.2011.04.021. Epub 2011 May 17.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1529339   PMID:1939271   PMID:2449431   PMID:7533895   PMID:7724549   PMID:7789978   PMID:7935417   PMID:8152490   PMID:8162052   PMID:8194528   PMID:8194529   PMID:8521393  
PMID:8612585   PMID:8628270   PMID:8652557   PMID:8692841   PMID:8692842   PMID:8849451   PMID:8934526   PMID:8946909   PMID:9054383   PMID:9118947   PMID:9121429   PMID:9130708  
PMID:9184228   PMID:9305922   PMID:9311822   PMID:9334327   PMID:9400991   PMID:9405375   PMID:9512541   PMID:9570510   PMID:9582279   PMID:9630526   PMID:9651670   PMID:9698541  
PMID:9710619   PMID:9765201   PMID:9765293   PMID:9774388   PMID:9790902   PMID:9792714   PMID:9837719   PMID:9852112   PMID:10066804   PMID:10082552   PMID:10214908   PMID:10403766  
PMID:10428966   PMID:10438593   PMID:10454562   PMID:10467411   PMID:10490622   PMID:10583946   PMID:10734072   PMID:10734143   PMID:10777215   PMID:10866664   PMID:10924514   PMID:10949034  
PMID:11062469   PMID:11071939   PMID:11113176   PMID:11118327   PMID:11239393   PMID:11259578   PMID:11266437   PMID:11313499   PMID:12080057   PMID:12379213   PMID:12392551   PMID:12393749  
PMID:12453423   PMID:12477932   PMID:12646563   PMID:12665589   PMID:14500720   PMID:14569024   PMID:14702039   PMID:14706819   PMID:15195146   PMID:15220921   PMID:15282296   PMID:15489334  
PMID:15625236   PMID:15909982   PMID:16169070   PMID:16793543   PMID:17643375   PMID:18160537   PMID:18270339   PMID:18354501   PMID:18562274   PMID:18692935   PMID:18976975   PMID:19934020  
PMID:20211142   PMID:20522537   PMID:20677014   PMID:20974803   PMID:21124955   PMID:21157430   PMID:21489275   PMID:21543505   PMID:21670263   PMID:21873635   PMID:21988832   PMID:22902626  
PMID:22939629   PMID:23180869   PMID:23602568   PMID:23751493   PMID:23986795   PMID:24403578   PMID:24816252   PMID:24981860   PMID:25492609   PMID:26186194   PMID:26278177   PMID:26340423  
PMID:26344197   PMID:26496610   PMID:27173435   PMID:27602723   PMID:27825926   PMID:28514442   PMID:28977422   PMID:29069470   PMID:29117863   PMID:29467282   PMID:29509190   PMID:29568061  
PMID:29656893   PMID:30033366   PMID:30287812   PMID:30554943   PMID:30651597   PMID:30884312   PMID:30894545   PMID:31527615   PMID:31753913   PMID:32296183   PMID:32355176   PMID:32707033  
PMID:32814053   PMID:32994395   PMID:33166411   PMID:33211877   PMID:33438746   PMID:33453189   PMID:33536335   PMID:33961781   PMID:34108663   PMID:34268577   PMID:34373451   PMID:34591642  
PMID:35271311   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36384536   PMID:36424410   PMID:36526897   PMID:36537216   PMID:36736316   PMID:37071682   PMID:37442507   PMID:37827155  


Genomics

Comparative Map Data
GTF2H1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381118,322,567 - 18,367,045 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1118,322,295 - 18,367,045 (+)Ensemblhg38GRCh38
GRCh371118,344,114 - 18,388,592 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,300,719 - 18,345,153 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341118,300,718 - 18,345,152NCBI
Celera1118,476,032 - 18,520,801 (+)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1118,026,329 - 18,071,105 (+)NCBIHuRef
CHM1_11118,343,304 - 18,388,093 (+)NCBICHM1_1
T2T-CHM13v2.01118,418,103 - 18,462,582 (+)NCBIT2T-CHM13v2.0
Gtf2h1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39746,445,518 - 46,473,224 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl746,445,527 - 46,473,224 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38746,796,094 - 46,823,800 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl746,796,103 - 46,823,800 (+)Ensemblmm10GRCm38
MGSCv37754,051,464 - 54,079,170 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36746,664,145 - 46,691,839 (+)NCBIMGSCv36mm8
Celera742,274,479 - 42,302,829 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map730.58NCBI
Gtf2h1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81106,457,692 - 106,485,729 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1106,457,394 - 106,485,727 (+)EnsemblGRCr8
mRatBN7.2197,321,417 - 97,349,455 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl197,321,394 - 97,349,455 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1102,713,646 - 102,741,801 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01111,185,630 - 111,213,785 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01104,469,761 - 104,497,796 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01102,849,618 - 102,877,939 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1102,849,889 - 102,877,944 (+)Ensemblrn6Rnor6.0
Rnor_5.01103,923,681 - 103,951,995 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4197,352,251 - 97,380,298 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera191,568,224 - 91,596,262 (+)NCBICelera
RGSC_v3.1197,430,363 - 97,458,409 (+)NCBI
Cytogenetic Map1q22NCBI
Gtf2h1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541433,028,701 - 33,063,233 (+)Ensembl
ChiLan1.0NW_00495541433,028,701 - 33,063,233 (+)NCBIChiLan1.0ChiLan1.0
GTF2H1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2920,636,598 - 20,681,276 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11120,596,985 - 20,641,633 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01118,357,594 - 18,402,268 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11118,042,822 - 18,086,898 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1118,042,824 - 18,086,898 (+)EnsemblpanPan2panpan1.1
GTF2H1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12140,770,661 - 40,807,329 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2140,770,983 - 40,806,556 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2140,250,242 - 40,286,596 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02141,894,288 - 41,930,625 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2141,894,288 - 41,930,623 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12140,886,602 - 40,922,934 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02141,075,253 - 41,111,663 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02141,452,829 - 41,489,189 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Gtf2h1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494744,869,445 - 44,906,096 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936528903,322 - 940,313 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936528903,429 - 940,308 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GTF2H1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl240,857,723 - 40,900,624 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1240,857,720 - 40,900,591 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2243,921,524 - 43,964,052 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GTF2H1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1146,573,907 - 46,620,443 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl146,573,393 - 46,609,261 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666038143,946,538 - 143,998,018 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gtf2h1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247669,808,170 - 9,848,173 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247669,807,973 - 9,848,167 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in GTF2H1
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1 copy number loss See cases [RCV000052646] Chr11:17905089..19674505 [GRCh38]
Chr11:17926636..19696051 [GRCh37]
Chr11:17883212..19652627 [NCBI36]
Chr11:11p15.1		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_005316.4(GTF2H1):c.1108A>C (p.Lys370Gln) single nucleotide variant not specified [RCV004304303] Chr11:18351935 [GRCh38]
Chr11:18373482 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1 copy number loss not provided [RCV000683355] Chr11:17527585..18606820 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_005316.4(GTF2H1):c.273A>G (p.Ala91=) single nucleotide variant not provided [RCV000949771] Chr11:18335872 [GRCh38]
Chr11:18357419 [GRCh37]
Chr11:11p15.1		 benign
NM_005316.4(GTF2H1):c.1573A>G (p.Ile525Val) single nucleotide variant not provided [RCV000953290] Chr11:18365795 [GRCh38]
Chr11:18387342 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3 copy number gain not provided [RCV000848590] Chr11:16775884..18418719 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1025C>G (p.Ala342Gly) single nucleotide variant not specified [RCV004294471] Chr11:18347891 [GRCh38]
Chr11:18369438 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1		 pathogenic
NC_000011.9:g.(?_17552691)_(19213995_?)dup duplication Progressive myoclonic epilepsy type 7 [RCV001295201] Chr11:17552691..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1393T>C (p.Tyr465His) single nucleotide variant Abnormal sperm morphology [RCV004801458] Chr11:18358566 [GRCh38]
Chr11:18380113 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18301429)_(18428828_?)dup duplication Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003116391] Chr11:18301429..18428828 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3 copy number gain not provided [RCV002474599] Chr11:17784556..18797650 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1315G>T (p.Ala439Ser) single nucleotide variant not specified [RCV004215164] Chr11:18358006 [GRCh38]
Chr11:18379553 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1537C>T (p.Arg513Trp) single nucleotide variant not specified [RCV004230060] Chr11:18360684 [GRCh38]
Chr11:18382231 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1333A>G (p.Thr445Ala) single nucleotide variant not specified [RCV004161179] Chr11:18358024 [GRCh38]
Chr11:18379571 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.245A>G (p.Glu82Gly) single nucleotide variant not specified [RCV004083589] Chr11:18335844 [GRCh38]
Chr11:18357391 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.738T>G (p.Cys246Trp) single nucleotide variant not specified [RCV004163995] Chr11:18341391 [GRCh38]
Chr11:18362938 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1141A>G (p.Arg381Gly) single nucleotide variant not specified [RCV004073459] Chr11:18351968 [GRCh38]
Chr11:18373515 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.133C>T (p.His45Tyr) single nucleotide variant not specified [RCV004195647] Chr11:18333207 [GRCh38]
Chr11:18354754 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1200T>G (p.Ile400Met) single nucleotide variant not specified [RCV004179582] Chr11:18352386 [GRCh38]
Chr11:18373933 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.223A>G (p.Thr75Ala) single nucleotide variant not specified [RCV004320735] Chr11:18335822 [GRCh38]
Chr11:18357369 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.219C>A (p.Asp73Glu) single nucleotide variant not specified [RCV004260756] Chr11:18335818 [GRCh38]
Chr11:18357365 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.242A>G (p.Asn81Ser) single nucleotide variant not specified [RCV004261897] Chr11:18335841 [GRCh38]
Chr11:18357388 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1238C>T (p.Ala413Val) single nucleotide variant not specified [RCV004359894] Chr11:18352424 [GRCh38]
Chr11:18373971 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.826C>A (p.Pro276Thr) single nucleotide variant not specified [RCV004346923] Chr11:18341596 [GRCh38]
Chr11:18363143 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1545G>C (p.Gln515His) single nucleotide variant not specified [RCV004356115] Chr11:18360692 [GRCh38]
Chr11:18382239 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.248G>A (p.Ser83Asn) single nucleotide variant not specified [RCV004388451] Chr11:18335847 [GRCh38]
Chr11:18357394 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.490G>C (p.Val164Leu) single nucleotide variant not specified [RCV004388452] Chr11:18338251 [GRCh38]
Chr11:18359798 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.838G>A (p.Gly280Ser) single nucleotide variant not specified [RCV004388455] Chr11:18347588 [GRCh38]
Chr11:18369135 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.701G>A (p.Arg234Gln) single nucleotide variant not specified [RCV004388453] Chr11:18341354 [GRCh38]
Chr11:18362901 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.817G>A (p.Glu273Lys) single nucleotide variant not specified [RCV004388454] Chr11:18341587 [GRCh38]
Chr11:18363134 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.899A>G (p.Asn300Ser) single nucleotide variant not specified [RCV004388456] Chr11:18347649 [GRCh38]
Chr11:18369196 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1374A>C (p.Gln458His) single nucleotide variant not specified [RCV004388450] Chr11:18358547 [GRCh38]
Chr11:18380094 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1112C>T (p.Thr371Met) single nucleotide variant not specified [RCV004388448] Chr11:18351939 [GRCh38]
Chr11:18373486 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1316C>T (p.Ala439Val) single nucleotide variant not specified [RCV004388449] Chr11:18358007 [GRCh38]
Chr11:18379554 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1481A>G (p.Lys494Arg) single nucleotide variant not specified [RCV004624080] Chr11:18360628 [GRCh38]
Chr11:18382175 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1013A>G (p.Asn338Ser) single nucleotide variant not specified [RCV004635059] Chr11:18347879 [GRCh38]
Chr11:18369426 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.1-12(chr11:17120358-41424289)x1 copy number loss not provided [RCV004819366] Chr11:17120358..41424289 [GRCh37]
Chr11:11p15.1-12		 pathogenic
GRCh37/hg19 11p15.1(chr11:18226764-18552953)x3 copy number gain not provided [RCV004819567] Chr11:18226764..18552953 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.356A>G (p.Gln119Arg) single nucleotide variant not specified [RCV004924960] Chr11:18338117 [GRCh38]
Chr11:18359664 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1350C>A (p.Asn450Lys) single nucleotide variant not specified [RCV004924961] Chr11:18358041 [GRCh38]
Chr11:18379588 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.910A>G (p.Ile304Val) single nucleotide variant not specified [RCV004928528] Chr11:18347660 [GRCh38]
Chr11:18369207 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.976A>T (p.Asn326Tyr) single nucleotide variant not specified [RCV004928529] Chr11:18347842 [GRCh38]
Chr11:18369389 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.487G>A (p.Asp163Asn) single nucleotide variant not specified [RCV004928530] Chr11:18338248 [GRCh38]
Chr11:18359795 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1261G>T (p.Val421Phe) single nucleotide variant not specified [RCV004928531] Chr11:18357952 [GRCh38]
Chr11:18379499 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1448C>T (p.Thr483Met) single nucleotide variant not specified [RCV004924958] Chr11:18358621 [GRCh38]
Chr11:18380168 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1129A>G (p.Lys377Glu) single nucleotide variant not specified [RCV004924959] Chr11:18351956 [GRCh38]
Chr11:18373503 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1184C>T (p.Ala395Val) single nucleotide variant not specified [RCV005346141] Chr11:18352370 [GRCh38]
Chr11:18373917 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1285A>G (p.Ser429Gly) single nucleotide variant not specified [RCV005346142] Chr11:18357976 [GRCh38]
Chr11:18379523 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.137T>C (p.Met46Thr) single nucleotide variant not specified [RCV005346143] Chr11:18333211 [GRCh38]
Chr11:18354758 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.578T>C (p.Ile193Thr) single nucleotide variant not specified [RCV005346144] Chr11:18339628 [GRCh38]
Chr11:18361175 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005316.4(GTF2H1):c.1622C>T (p.Ser541Leu) single nucleotide variant not specified [RCV005346145] Chr11:18365844 [GRCh38]
Chr11:18387391 [GRCh37]
Chr11:11p15.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2680
Count of miRNA genes:1010
Interacting mature miRNAs:1205
Transcripts:ENST00000265963, ENST00000418116, ENST00000453096, ENST00000524753, ENST00000525831, ENST00000526282, ENST00000526461, ENST00000526630, ENST00000528427, ENST00000530496, ENST00000531757, ENST00000532227, ENST00000534213, ENST00000534641, ENST00000543932, ENST00000607664
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597188504GWAS1284578_Himidazole lactate measurement QTL GWAS1284578 (human)1e-10imidazole lactate measurement111833491918334920Human
597319578GWAS1415652_Himidazole lactate measurement QTL GWAS1415652 (human)5e-26imidazole lactate measurement111836022718360228Human
1576345LVC1_HLeft ventricular contractility QTL 1 (human)3.93Left ventricular contractility11797076733970767Human
597065527GWAS1161601_Hoverall survival, pancreatic carcinoma QTL GWAS1161601 (human)0.000009pancreas integrity trait (VT:0010560)111833563318335634Human
597309816GWAS1405890_H2-hydroxy-4-(methylthio)butanoic acid measurement QTL GWAS1405890 (human)8e-162-hydroxy-4-(methylthio)butanoic acid measurement111834202218342023Human
2289313BW388_HBody weight QTL 388 (human)1.570.00356Body fat amountabdominal11443467130434671Human
597278714GWAS1374788_Halpha-hydroxyisovalerate measurement QTL GWAS1374788 (human)3e-73alpha-hydroxyisovalerate measurement111836658118366582Human
407111906GWAS760882_Hmean corpuscular hemoglobin QTL GWAS760882 (human)8e-08erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)111834558318345584Human
597141310GWAS1237384_Halpha-hydroxyisovalerate measurement QTL GWAS1237384 (human)2e-153alpha-hydroxyisovalerate measurement111836262318362624Human
597313462GWAS1409536_HX-13684 measurement QTL GWAS1409536 (human)4e-11X-13684 measurement111833113818331139Human
597143833GWAS1239907_H3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio QTL GWAS1239907 (human)2e-373-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio111833572318335724Human
597328779GWAS1424853_H2-hydroxy-3-methylvalerate measurement QTL GWAS1424853 (human)1e-172-hydroxy-3-methylvalerate measurement111836022718360228Human
597431342GWAS1527416_Hprotein measurement QTL GWAS1527416 (human)5e-172protein amount (VT:0010120)111835398618353987Human
1559107SCL32_HSerum cholesterol level QTL 32 (human)3.27Lipid levelLDL cholesterol11289243028892430Human
597106499GWAS1202573_Hsystemic lupus erythematosus QTL GWAS1202573 (human)3e-17systemic lupus erythematosus111834083518340836Human
1559104SCL15_HSerum cholesterol level QTL 15 (human)2.60.06Lipid levelhyperlipidemia susceptibility111589236841892368Human
597314306GWAS1410380_Halpha-hydroxyisovalerate measurement QTL GWAS1410380 (human)7e-22alpha-hydroxyisovalerate measurement111834202218342023Human
597315361GWAS1411435_Himidazole lactate measurement QTL GWAS1411435 (human)9e-18imidazole lactate measurement111836658118366582Human
597328326GWAS1424400_Hlevel of 2-hydroxy-3-methylbutyrate in blood QTL GWAS1424400 (human)3e-59level of 2-hydroxy-3-methylbutyrate in blood111836658118366582Human
1559113SCL31_HSerum cholesterol level QTL 31 (human)3.72Lipid levelLDL cholesterol11289243028892430Human
597279143GWAS1375217_Himidazole lactate measurement QTL GWAS1375217 (human)2e-18imidazole lactate measurement111836262318362624Human
407039356GWAS688332_Hpancreatic carcinoma QTL GWAS688332 (human)0.000009pancreas integrity trait (VT:0010560)111836339118363392Human

Markers in Region
RH118763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,350,998 - 18,351,286UniSTSGRCh37
Build 361118,307,574 - 18,307,862RGDNCBI36
Celera1118,483,215 - 18,483,503RGD
Cytogenetic Map11p15.1-p14UniSTS
HuRef1118,033,511 - 18,033,799UniSTS
TNG Radiation Hybrid Map118847.0UniSTS
RH79042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,354,015 - 18,354,185UniSTSGRCh37
Build 361118,310,591 - 18,310,761RGDNCBI36
Celera1118,486,232 - 18,486,402RGD
Cytogenetic Map11p15.1-p14UniSTS
HuRef1118,036,528 - 18,036,698UniSTS
GeneMap99-GB4 RH Map1166.94UniSTS
NCBI RH Map11128.6UniSTS
SHGC-112034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,350,389 - 18,350,727UniSTSGRCh37
Build 361118,306,965 - 18,307,303RGDNCBI36
Celera1118,482,606 - 18,482,944RGD
Cytogenetic Map11p15.1-p14UniSTS
HuRef1118,032,902 - 18,033,240UniSTS
TNG Radiation Hybrid Map118847.0UniSTS
GTF2H1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,387,418 - 18,387,584UniSTSGRCh37
Build 361118,343,994 - 18,344,160RGDNCBI36
Celera1118,519,629 - 18,519,795RGD
Cytogenetic Map11p15.1-p14UniSTS
HuRef1118,069,932 - 18,070,098UniSTS
GeneMap99-GB4 RH Map1165.07UniSTS
RH65846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,387,991 - 18,388,168UniSTSGRCh37
Build 361118,344,567 - 18,344,744RGDNCBI36
Celera1118,520,202 - 18,520,379RGD
Cytogenetic Map11p15.1-p14UniSTS
HuRef1118,070,505 - 18,070,682UniSTS
GeneMap99-GB4 RH Map1163.37UniSTS
SHGC-30910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,344,103 - 18,344,204UniSTSGRCh37
Build 361118,300,679 - 18,300,780RGDNCBI36
Celera1118,476,319 - 18,476,420RGD
Cytogenetic Map11p14UniSTS
Cytogenetic Map11p15.1-p14UniSTS
HuRef1118,026,616 - 18,026,717UniSTS
GeneMap99-G3 RH Map11800.0UniSTS
GTF2H1_3373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,387,944 - 18,388,688UniSTSGRCh37
Build 361118,344,520 - 18,345,264RGDNCBI36
Celera1118,520,155 - 18,520,899RGD
HuRef1118,070,458 - 18,071,203UniSTS
G54112  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.1-p14UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001142307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI275181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ131959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY163770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265963   ⟹   ENSP00000265963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,322,567 - 18,367,045 (+)Ensembl
Ensembl Acc Id: ENST00000418116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,322,557 - 18,360,770 (+)Ensembl
Ensembl Acc Id: ENST00000453096   ⟹   ENSP00000393638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,322,295 - 18,366,261 (+)Ensembl
Ensembl Acc Id: ENST00000524753   ⟹   ENSP00000436575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,338,217 - 18,348,831 (+)Ensembl
Ensembl Acc Id: ENST00000525831   ⟹   ENSP00000431481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,322,569 - 18,335,884 (+)Ensembl
Ensembl Acc Id: ENST00000526282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,352,098 - 18,358,642 (+)Ensembl
Ensembl Acc Id: ENST00000526461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,322,568 - 18,333,454 (+)Ensembl
Ensembl Acc Id: ENST00000526630   ⟹   ENSP00000439774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,351,572 - 18,365,898 (+)Ensembl
Ensembl Acc Id: ENST00000528427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,352,018 - 18,358,102 (+)Ensembl
Ensembl Acc Id: ENST00000530496   ⟹   ENSP00000433133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,347,104 - 18,366,275 (+)Ensembl
Ensembl Acc Id: ENST00000531757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,322,547 - 18,335,904 (+)Ensembl
Ensembl Acc Id: ENST00000532227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,322,582 - 18,333,609 (+)Ensembl
Ensembl Acc Id: ENST00000534213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,322,567 - 18,333,183 (+)Ensembl
Ensembl Acc Id: ENST00000534641   ⟹   ENSP00000435375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,322,567 - 18,366,813 (+)Ensembl
Ensembl Acc Id: ENST00000543932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,332,662 - 18,341,608 (+)Ensembl
Ensembl Acc Id: ENST00000607664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,341,409 - 18,341,958 (+)Ensembl
RefSeq Acc Id: NM_001142307   ⟹   NP_001135779
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,322,567 - 18,367,045 (+)NCBI
GRCh371118,343,816 - 18,388,590 (+)ENTREZGENE
HuRef1118,026,329 - 18,071,105 (+)ENTREZGENE
CHM1_11118,343,304 - 18,388,093 (+)NCBI
T2T-CHM13v2.01118,418,103 - 18,462,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005316   ⟹   NP_005307
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,322,567 - 18,367,045 (+)NCBI
GRCh371118,343,816 - 18,388,590 (+)ENTREZGENE
Build 361118,300,719 - 18,345,153 (+)NCBI Archive
HuRef1118,026,329 - 18,071,105 (+)ENTREZGENE
CHM1_11118,343,304 - 18,388,093 (+)NCBI
T2T-CHM13v2.01118,418,103 - 18,462,582 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718208   ⟹   XP_006718271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,322,567 - 18,367,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448457   ⟹   XP_024304225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,322,567 - 18,367,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448458   ⟹   XP_024304226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,330,943 - 18,367,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054368586   ⟹   XP_054224561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,418,103 - 18,462,582 (+)NCBI
RefSeq Acc Id: XM_054368587   ⟹   XP_054224562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,418,103 - 18,462,582 (+)NCBI
RefSeq Acc Id: XM_054368588   ⟹   XP_054224563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,426,480 - 18,462,582 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001135779 (Get FASTA)   NCBI Sequence Viewer  
  NP_005307 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718271 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304225 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304226 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188499 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188500 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188501 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224561 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224562 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224563 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA58399 (Get FASTA)   NCBI Sequence Viewer  
  AAH00365 (Get FASTA)   NCBI Sequence Viewer  
  AAH04452 (Get FASTA)   NCBI Sequence Viewer  
  AAN46740 (Get FASTA)   NCBI Sequence Viewer  
  ADO22310 (Get FASTA)   NCBI Sequence Viewer  
  BAB15621 (Get FASTA)   NCBI Sequence Viewer  
  BAG35811 (Get FASTA)   NCBI Sequence Viewer  
  BAG54452 (Get FASTA)   NCBI Sequence Viewer  
  BAG61549 (Get FASTA)   NCBI Sequence Viewer  
  BAG61628 (Get FASTA)   NCBI Sequence Viewer  
  CAC00685 (Get FASTA)   NCBI Sequence Viewer  
  CAG33649 (Get FASTA)   NCBI Sequence Viewer  
  EAW68399 (Get FASTA)   NCBI Sequence Viewer  
  EAW68400 (Get FASTA)   NCBI Sequence Viewer  
  EAW68401 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265963
  ENSP00000265963.4
  ENSP00000393638
  ENSP00000393638.2
  ENSP00000435375.1
  ENSP00000500178.1
  ENSP00000500357.1
  ENSP00000500852.1
GenBank Protein P32780 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001135779   ⟸   NM_001142307
- UniProtKB: Q9H5K5 (UniProtKB/Swiss-Prot),   Q6I9Y7 (UniProtKB/Swiss-Prot),   D3DQY2 (UniProtKB/Swiss-Prot),   B3KXE0 (UniProtKB/Swiss-Prot),   Q9NQD9 (UniProtKB/Swiss-Prot),   P32780 (UniProtKB/Swiss-Prot),   A0A384MTQ8 (UniProtKB/TrEMBL),   B2R7G4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005307   ⟸   NM_005316
- UniProtKB: Q9H5K5 (UniProtKB/Swiss-Prot),   Q6I9Y7 (UniProtKB/Swiss-Prot),   D3DQY2 (UniProtKB/Swiss-Prot),   B3KXE0 (UniProtKB/Swiss-Prot),   Q9NQD9 (UniProtKB/Swiss-Prot),   P32780 (UniProtKB/Swiss-Prot),   A0A384MTQ8 (UniProtKB/TrEMBL),   B2R7G4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718271   ⟸   XM_006718208
- Peptide Label: isoform X1
- UniProtKB: Q9H5K5 (UniProtKB/Swiss-Prot),   Q6I9Y7 (UniProtKB/Swiss-Prot),   D3DQY2 (UniProtKB/Swiss-Prot),   B3KXE0 (UniProtKB/Swiss-Prot),   Q9NQD9 (UniProtKB/Swiss-Prot),   P32780 (UniProtKB/Swiss-Prot),   A0A384MTQ8 (UniProtKB/TrEMBL),   B2R7G4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304225   ⟸   XM_024448457
- Peptide Label: isoform X1
- UniProtKB: Q9H5K5 (UniProtKB/Swiss-Prot),   Q6I9Y7 (UniProtKB/Swiss-Prot),   P32780 (UniProtKB/Swiss-Prot),   D3DQY2 (UniProtKB/Swiss-Prot),   B3KXE0 (UniProtKB/Swiss-Prot),   Q9NQD9 (UniProtKB/Swiss-Prot),   A0A384MTQ8 (UniProtKB/TrEMBL),   B2R7G4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304226   ⟸   XM_024448458
- Peptide Label: isoform X1
- UniProtKB: Q9H5K5 (UniProtKB/Swiss-Prot),   Q6I9Y7 (UniProtKB/Swiss-Prot),   P32780 (UniProtKB/Swiss-Prot),   D3DQY2 (UniProtKB/Swiss-Prot),   B3KXE0 (UniProtKB/Swiss-Prot),   Q9NQD9 (UniProtKB/Swiss-Prot),   A0A384MTQ8 (UniProtKB/TrEMBL),   B2R7G4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000433133   ⟸   ENST00000530496
Ensembl Acc Id: ENSP00000393638   ⟸   ENST00000453096
Ensembl Acc Id: ENSP00000435375   ⟸   ENST00000534641
Ensembl Acc Id: ENSP00000436575   ⟸   ENST00000524753
Ensembl Acc Id: ENSP00000431481   ⟸   ENST00000525831
Ensembl Acc Id: ENSP00000439774   ⟸   ENST00000526630
Ensembl Acc Id: ENSP00000265963   ⟸   ENST00000265963
RefSeq Acc Id: XP_054224562   ⟸   XM_054368587
- Peptide Label: isoform X1
- UniProtKB: Q9H5K5 (UniProtKB/Swiss-Prot),   Q6I9Y7 (UniProtKB/Swiss-Prot),   P32780 (UniProtKB/Swiss-Prot),   D3DQY2 (UniProtKB/Swiss-Prot),   B3KXE0 (UniProtKB/Swiss-Prot),   Q9NQD9 (UniProtKB/Swiss-Prot),   A0A384MTQ8 (UniProtKB/TrEMBL),   B2R7G4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224561   ⟸   XM_054368586
- Peptide Label: isoform X1
- UniProtKB: Q9H5K5 (UniProtKB/Swiss-Prot),   Q6I9Y7 (UniProtKB/Swiss-Prot),   P32780 (UniProtKB/Swiss-Prot),   D3DQY2 (UniProtKB/Swiss-Prot),   B3KXE0 (UniProtKB/Swiss-Prot),   Q9NQD9 (UniProtKB/Swiss-Prot),   A0A384MTQ8 (UniProtKB/TrEMBL),   B2R7G4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224563   ⟸   XM_054368588
- Peptide Label: isoform X1
- UniProtKB: Q9H5K5 (UniProtKB/Swiss-Prot),   Q6I9Y7 (UniProtKB/Swiss-Prot),   P32780 (UniProtKB/Swiss-Prot),   D3DQY2 (UniProtKB/Swiss-Prot),   B3KXE0 (UniProtKB/Swiss-Prot),   Q9NQD9 (UniProtKB/Swiss-Prot),   A0A384MTQ8 (UniProtKB/TrEMBL),   B2R7G4 (UniProtKB/TrEMBL)
Protein Domains
BSD   TFIIH p62 subunit N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P32780-F1-model_v2 AlphaFold P32780 1-548 view protein structure

Promoters
RGD ID:6789045
Promoter ID:HG_KWN:12450
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142307,   NM_005316,   NM_007216,   NM_181507,   NM_181508,   UC001MOG.1,   UC009YHM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361118,299,131 - 18,300,737 (-)MPROMDB
RGD ID:7219789
Promoter ID:EPDNEW_H15640
Type:initiation region
Name:GTF2H1_2
Description:general transcription factor IIH subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15642  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,322,269 - 18,322,329EPDNEW
RGD ID:7219793
Promoter ID:EPDNEW_H15642
Type:initiation region
Name:GTF2H1_1
Description:general transcription factor IIH subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15640  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,322,567 - 18,322,627EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4655 AgrOrtholog
COSMIC GTF2H1 COSMIC
Ensembl Genes ENSG00000110768 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000288114 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265963 ENTREZGENE
  ENST00000265963.9 UniProtKB/Swiss-Prot
  ENST00000453096 ENTREZGENE
  ENST00000453096.6 UniProtKB/Swiss-Prot
  ENST00000534641.5 UniProtKB/Swiss-Prot
  ENST00000672527.1 UniProtKB/Swiss-Prot
  ENST00000672827.1 UniProtKB/Swiss-Prot
  ENST00000672845.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
  6.10.140.1200 UniProtKB/Swiss-Prot
GTEx ENSG00000110768 GTEx
  ENSG00000288114 GTEx
HGNC ID HGNC:4655 ENTREZGENE
Human Proteome Map GTF2H1 Human Proteome Map
InterPro BSD_dom UniProtKB/Swiss-Prot
  BSD_dom_sf UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  Tfb1/GTF2H1 UniProtKB/Swiss-Prot
  TFIIH_BTF_p62_N UniProtKB/Swiss-Prot
KEGG Report hsa:2965 UniProtKB/Swiss-Prot
NCBI Gene 2965 ENTREZGENE
OMIM 189972 OMIM
PANTHER PTHR12856 UniProtKB/Swiss-Prot
Pfam BSD UniProtKB/Swiss-Prot
  PH_TFIIH UniProtKB/Swiss-Prot
PharmGKB PA29041 PharmGKB
PROSITE BSD UniProtKB/Swiss-Prot
RNAcentral URS00008B8070 RNACentral
  URS000195B2B5 RNACentral
SMART BSD UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot
  SSF140383 UniProtKB/Swiss-Prot
UniProt A0A384MTQ8 ENTREZGENE, UniProtKB/TrEMBL
  B2R7G4 ENTREZGENE, UniProtKB/TrEMBL
  B3KXE0 ENTREZGENE
  D3DQY2 ENTREZGENE
  E9PI26_HUMAN UniProtKB/TrEMBL
  E9PL58_HUMAN UniProtKB/TrEMBL
  E9PM51_HUMAN UniProtKB/TrEMBL
  F5H0Y9_HUMAN UniProtKB/TrEMBL
  P32780 ENTREZGENE
  Q6I9Y7 ENTREZGENE
  Q9H5K5 ENTREZGENE
  Q9NQD9 ENTREZGENE
  TF2H1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KXE0 UniProtKB/Swiss-Prot
  D3DQY2 UniProtKB/Swiss-Prot
  Q6I9Y7 UniProtKB/Swiss-Prot
  Q9H5K5 UniProtKB/Swiss-Prot
  Q9NQD9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GTF2H1  general transcription factor IIH subunit 1    general transcription factor IIH, polypeptide 1, 62kDa  Symbol and/or name change 5135510 APPROVED