GTF2H5 |
- 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)