ANKS6
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ANKS6 (HGNC:26724) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ankyrin repeat and sterile alpha motif domain containing 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SAMD6, ANKRD14
Alias symbols
FLJ36928, NPHP16
%HI
50.29(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.87(Read more about gnomAD LOEUF score)
Cytoband
9q22.33
Genomic Coordinates
GRCh37/hg19: chr9:101494291-101558837 NCBI Ensembl UCSC
GRCh38/hg38: chr9:98732009-98796555 NCBI Ensembl UCSC
MANE Select Transcript
NM_173551.5 ENST00000353234.5 (Read more about MANE Select)
Function
Required for renal function. {ECO:0000269|PubMed:23793029}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19297
ClinGen Curation ID:
CCID:006668
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)