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)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)