• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SURF1 (HGNC:11474) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SURF1 cytochrome c oxidase assembly factor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
SHY1
%HI
65.94(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.72(Read more about gnomAD LOEUF score)
Cytoband
9q34.2
Genomic Coordinates
GRCh37/hg19: chr9:136218613-136223363 NCBI Ensembl UCSC
GRCh38/hg38: chr9:133351758-133356487 NCBI Ensembl UCSC
MANE Select Transcript
NM_003172.4 ENST00000371974.8 (Read more about MANE Select)
Function
Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. {ECO:0000269|PubMed:24027061, ECO:0000269|PubMed:9843204, ECO:0000305|PubMed:26321642}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35666
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:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)