EYS |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- EYS (HGNC:21555) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- eyes shut homolog
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179
- Alias symbols
- dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1
- %HI
- 25.63(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
- 6q12
- Genomic Coordinates
-
GRCh37/hg19: chr6:64429876-66417119 NCBI Ensembl UCSC GRCh38/hg38: chr6:63719980-65707226 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001142800.2 ENST00000503581.6 (Read more about MANE Select)
- Function
- Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity). {ECO:0000250|UniProtKB:B8JI71, ECO:0000269|PubMed:18836446}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26652
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:
- retinitis pigmentosa 25 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)