RSPH4A
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RSPH4A (HGNC:21558) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
radial spoke head component 4A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
RSHL3
Alias symbols
dJ412I7.1, FLJ37974, RSPH6B, CILD11
%HI
69.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.82(Read more about gnomAD LOEUF score)
Cytoband
6q22.1
Genomic Coordinates
GRCh37/hg19: chr6:116937642-116954148 NCBI Ensembl UCSC
GRCh38/hg38: chr6:116616479-116632985 NCBI Ensembl UCSC
MANE Select Transcript
NM_001010892.3 ENST00000229554.10 (Read more about MANE Select)
Function
Component of the axonemal radial spoke head which plays an important role in ciliary motility (PubMed:19200523). Essential for triplet radial spokes (RS1, RS2 and RS3) head assembly in the motile cilia (By similarity). {ECO:0000250|UniProtKB:Q8BYM7, ECO:0000269|PubMed:19200523}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14615
ClinGen Curation ID:
CCID:007791
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_000006.11) (NC_000006.12)