RIMBP3C

RIMS binding protein 3C

Basic information

Region (hg38): 22:21545666-21551461

Links

ENSG00000183246 ∙ NCBI:150221 ∙ OMIM:612701 ∙ HGNC:33892 ∙ Uniprot:A6NJZ7 ∙ 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 RIMBP3C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIMBP3C gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	1	0

Variants in RIMBP3C

This is a list of pathogenic ClinVar variants found in the RIMBP3C region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-21546179-C-G		not specified	Uncertain significance (Apr 07, 2022)
22-21547058-G-T		not specified	Uncertain significance (Apr 27, 2022)
22-21547630-C-G		not specified	Uncertain significance (Mar 07, 2023)
22-21547775-A-ACACCTG		not specified	Benign/Likely benign (-)
22-21550753-C-T		not specified	Likely benign (Oct 22, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development. {ECO:0000250|UniProtKB:Q3V0F0}.

Recessive Scores

• pRec: 0.0827

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Gene ontology

• Biological process: neuromuscular synaptic transmission;spermatid development;biological_process;fertilization
• Cellular component: manchette;cellular_component;nucleus;cytoplasm
• Molecular function: molecular_function;benzodiazepine receptor binding