AutismKB 2.0

Annotation Detail for GTF2H1


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Basic Information Top
Gene Symbol:GTF2H1 ( BTF2,TFB1,TFIIH )
Gene Full Name: general transcription factor IIH, polypeptide 1, 62kDa
Band: 11p15.1
Quick LinksEntrez ID:2965; OMIM: 189972; Uniprot ID:TF2H1_HUMAN; ENSEMBL ID: ENSG00000110768; HGNC ID: 4655
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
339Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
150N-linkedHMM predict
156Phosphoserine(CK1)HMM predict
187N-linkedHMM predict
214N-linkedHMM predict
288O-linkedHMM predict
360Phosphotyrosine(Syk)HMM predict
383Phosphotyrosine(Syk)HMM predict
397Phosphoserine(ATM)HMM predict
428O-linkedHMM predict
430O-linkedHMM predict
432O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005316
  • Location:chr11 18300718-18345151
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 18299852 18301180 1328 203
FOXA1 MCF7GSE15244 18299995 18301071 1076 186
PHF8 293TGSE20725 18299969 18301246 1277 111
PHF8 Hs68plusFBSGSE20725 18299728 18301303 1575 203
p130 QuiescentGSE19898 18300163 18300854 691 210
p130 shRbSenescentGSE19898 18300234 18300876 642 164
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 18307237 18307700 463 0
H3K4me3 colorectalcancer 18301071 18301315 244 0
H3K4me3 colorectalcancer 18301840 18302139 299 0
H3ac HepG2E 18301101 18303771 2670 0
H3ac HepG2E 18335151 18335335 184 0
Oct1 HelaGSE14283 18309442 18309513 71 0
USF1 HepG2E 18299069 18303810 4741 0
USF2 HepG2E 18299458 18302139 2681 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-15a hsa-mir-15a 13 18362358
hsa-miR-15a* hsa-mir-15a 13 18362358
hsa-miR-16 hsa-mir-16-1 13 18362358
hsa-miR-16 hsa-mir-16-2 3 18362358
hsa-miR-16-1* hsa-mir-16-1 13 18362358
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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