UVSSA |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- UVSSA (HGNC:29304) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- UV stimulated scaffold protein A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- KIAA1530
- Alias symbols
- No aliases found
- %HI
- 81.41(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.22(Read more about gnomAD LOEUF score)
- Cytoband
- 4p16.3
- Genomic Coordinates
-
GRCh37/hg19: chr4:1340996-1381837 NCBI Ensembl UCSC GRCh38/hg38: chr4:1342011-1395989 NCBI Ensembl UCSC - MANE Select Transcript
- NM_020894.4 ENST00000389851.10 (Read more about MANE Select)
- Function
- Factor involved in transcription-coupled nucleotide excision repair (TC-NER), a mechanism that rapidly removes RNA polymerase II- blocking lesions from the transcribed strand of active genes (PubMed:22466610, PubMed:22466611, PubMed:22466612). Facilitates the ubiquitination of the elongating form of RNA polymerase II (RNA pol IIo) at DNA damage sites, thereby promoting RNA pol IIo backtracking and access by the TC-NER machinery to lesion sites (PubMed:22466611, PubMed:32142649). Acts by promotin... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-11234
ClinGen Curation ID:
CCID:008090
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- UV-sensitive syndrome 3 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000004.11)
(NC_000004.12)