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)
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:
- 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)