USH1G
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
USH1G (HGNC:16356) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
USH1 protein network component sans
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
Sans, FLJ33924, ANKS4A
%HI
45.67(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.21(Read more about gnomAD LOEUF score)
Cytoband
17q25.1
Genomic Coordinates
GRCh37/hg19: chr17:72912175-72919350 NCBI Ensembl UCSC
GRCh38/hg38: chr17:74916083-74923255 NCBI Ensembl UCSC
MANE Select Transcript
NM_173477.5 ENST00000614341.5 (Read more about MANE Select)
Function
Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri- snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of the pre-catalytic spliceosome on target pre-mRNAs (PubMed:34023904). May also participate in recycling of snRNPs back to Cajal bodies during splicing (PubMed:34023904). Plays a role in regulating MAGI2-mediated endocytosis (PubMed:24608321). Anchoring/sc... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19650
ClinGen Curation ID:
CCID:008087
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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:
HI Evidence Comments:
Variants in USH1G have been reported in association with Usher syndrome type 1 (USH1), an autosomal recessive condition. Furthermore, the overall evidence that USH1G, when altered, causes USH1 has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)