SAMD9
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SAMD9 (HGNC:1348) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
sterile alpha motif domain containing 9
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C7orf5
Alias symbols
KIAA2004, FLJ20073
%HI
77.6(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.03(Read more about gnomAD pLI score)
LOEUF
1.77(Read more about gnomAD LOEUF score)
Cytoband
7q21.2
Genomic Coordinates
GRCh37/hg19: chr7:92728831-92747292 NCBI Ensembl UCSC
GRCh38/hg38: chr7:93099518-93117979 NCBI Ensembl UCSC
MANE Select Transcript
NM_017654.4 ENST00000379958.3 (Read more about MANE Select)
Function
Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion. {ECO:0000269|PubMed:16960814, ECO:0000269|PubMed:18... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27943
ClinGen Curation ID:
CCID:007801
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:
  • normophosphatemic familial tumoral calcinosis Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)