• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GTF2H5 (HGNC:21157) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
general transcription factor IIH subunit 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C6orf175, TTD
Alias symbols
FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA
%HI
30.21(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.05(Read more about gnomAD pLI score)
LOEUF
1.71(Read more about gnomAD LOEUF score)
Cytoband
6q25.3
Genomic Coordinates
GRCh37/hg19: chr6:158589382-158620376 NCBI Ensembl UCSC
GRCh38/hg38: chr6:158168350-158199344 NCBI Ensembl UCSC
MANE Select Transcript
NM_207118.3 ENST00000607778.2 (Read more about MANE Select)
Function
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-ini... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4251
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • trichothiodystrophy 3, photosensitive Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)