ZFYVE26

  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ZFYVE26 (HGNC:20761) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
zinc finger FYVE-type containing 26
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SPG15
Alias symbols
KIAA0321
%HI
42.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.6(Read more about gnomAD LOEUF score)
Cytoband
14q24.1
Genomic Coordinates
GRCh37/hg19: chr14:68213239-68283307 NCBI Ensembl UCSC
GRCh38/hg38: chr14:67728892-67816590 NCBI Ensembl UCSC
MANE Select Transcript
NM_015346.4 ENST00000347230.9 (Read more about MANE Select)
Function
Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair. {ECO:0000269|PubMed:20208530}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-21224
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:
  • hereditary spastic paraplegia 15 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)