SPG21 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SPG21 (HGNC:20373) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SPG21 abhydrolase domain containing, maspardin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- ACP33, GL010, BM-019, MAST, ABHD21
- %HI
- 18.22(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.83(Read more about gnomAD LOEUF score)
- Cytoband
- 15q22.31
- Genomic Coordinates
-
GRCh37/hg19: chr15:65255363-65282252 NCBI Ensembl UCSC GRCh38/hg38: chr15:64963022-64989914 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016630.7 ENST00000204566.7 (Read more about MANE Select)
- Function
- May play a role as a negative regulatory factor in CD4- dependent T-cell activation. {ECO:0000269|PubMed:11113139}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-25839
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:
- mast syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)