RSPH6A

radial spoke head 6 homolog A, the group of Axonemal radial spoke subunits

Basic information

Region (hg38): 19:45795713-45815308

Previous symbols: [ "RSHL1" ]

Links

ENSG00000104941NCBI:81492OMIM:607548HGNC:14241Uniprot:Q9H0K4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RSPH6A gene.

  • not_specified (118 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RSPH6A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000030785.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
114
clinvar
3
clinvar
117
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 114 5 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RSPH6Aprotein_codingprotein_codingENST00000221538 619610
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.34e-100.87612564711001257480.000402
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4294764501.060.00002844684
Missense in Polyphen119122.750.969431232
Synonymous0.2882022070.9750.00001531394
Loss of Function1.802030.80.6500.00000150321

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0009340.000933
Ashkenazi Jewish0.0003970.000397
East Asian0.0004350.000435
Finnish0.00004620.0000462
European (Non-Finnish)0.0005410.000528
Middle Eastern0.0004350.000435
South Asian0.00009800.0000980
Other0.0001670.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.820
rvis_EVS
-1.06
rvis_percentile_EVS
7.58

Haploinsufficiency Scores

pHI
0.0719
hipred
N
hipred_score
0.146
ghis
0.541

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.231

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rsph6a
Phenotype
cellular phenotype; reproductive system phenotype;