SPATA7 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SPATA7 (HGNC:20423) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- spermatogenesis associated 7
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- LCA3
- Alias symbols
- HSD3
- %HI
- 75.54(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.15(Read more about gnomAD LOEUF score)
- Cytoband
- 14q31.3
- Genomic Coordinates
-
GRCh37/hg19: chr14:88852001-88904804 NCBI Ensembl UCSC GRCh38/hg38: chr14:88385657-88470350 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018418.5 ENST00000393545.9 (Read more about MANE Select)
- Function
- Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity). {ECO:0000250|UniP... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7464
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Leber congenital amaurosis 3 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)