RSPH10B

radial spoke head 10 homolog B, the group of Axonemal radial spoke subunits

Basic information

Region (hg38): 7:5925550-5970689

Links

ENSG00000155026 ∙ NCBI:222967 ∙ ∙ HGNC:27362 ∙ Uniprot:P0C881 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RSPH10B gene.

• not_specified (79 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RSPH10B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173565.5. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			75	4		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RSPH10B	protein_coding	protein_coding	ENST00000405415	19	45134

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000523	0.968	124210	5	310	124525	0.00127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.371	228	244	0.933	0.0000140	5697
Missense in Polyphen		62	67.469	0.91895		1832
Synonymous	-0.124	88	86.5	1.02	0.00000548	1458
Loss of Function	1.98	12	22.0	0.545	0.00000100	558

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0157	0.0143
Ashkenazi Jewish	0.00	0.00
East Asian	0.000224	0.000217
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000470	0.000431
Middle Eastern	0.000224	0.000217
South Asian	0.000203	0.000196
Other	0.00117	0.00114

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0838

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.117

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rsph10b