RBM6

RNA binding motif protein 6, the group of RNA binding motif containing|G-patch domain containing

Basic information

Region (hg38): 3:49940006-50100045

Links

ENSG00000004534 ∙ NCBI:10180 ∙ OMIM:606886 ∙ HGNC:9903 ∙ Uniprot:P78332 ∙ 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 RBM6 gene.

• Inborn genetic diseases (35 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM6 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				1	1	2
missense			34	1	2	37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	2	3

Variants in RBM6

This is a list of pathogenic ClinVar variants found in the RBM6 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-49967648-T-C		not specified	Uncertain significance (Oct 26, 2022)
3-49967649-A-G		not specified	Uncertain significance (Mar 07, 2023)
3-49967663-G-A		not specified	Uncertain significance (Oct 20, 2023)
3-49967667-C-T		not specified	Uncertain significance (Dec 16, 2023)
3-49967713-G-C		not specified	Uncertain significance (Nov 08, 2021)
3-49967718-G-C		not specified	Uncertain significance (Mar 01, 2023)
3-49967727-C-T		not specified	Uncertain significance (Feb 21, 2024)
3-49967898-G-A		not specified	Uncertain significance (Sep 28, 2022)
3-49967906-C-T		not specified	Uncertain significance (Apr 19, 2023)
3-49967920-C-G		not specified	Uncertain significance (Nov 09, 2021)
3-49967958-G-A		not specified	Uncertain significance (May 27, 2022)
3-49968030-A-G		not specified	Uncertain significance (Jan 22, 2024)
3-49968047-A-G		not specified	Uncertain significance (Nov 10, 2021)
3-49968060-G-A		not specified	Uncertain significance (Oct 10, 2023)
3-49968080-G-C		not specified	Uncertain significance (May 31, 2023)
3-49968127-C-G		not specified	Uncertain significance (Jul 21, 2021)
3-49968180-C-T		not specified	Uncertain significance (Oct 26, 2022)
3-49968204-G-C		not specified	Uncertain significance (May 10, 2022)
3-49968224-C-G		not specified	Uncertain significance (Dec 19, 2022)
3-49968247-G-A		not specified	Uncertain significance (Sep 29, 2023)
3-49968284-C-T		not specified	Likely benign (Dec 17, 2023)
3-49968387-C-T		not specified	Uncertain significance (Jan 04, 2024)
3-49968454-A-C		not specified	Uncertain significance (Jan 23, 2023)
3-49968548-C-T		not specified	Uncertain significance (Feb 10, 2023)
3-49968558-A-G		not specified	Uncertain significance (Dec 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM6	protein_coding	protein_coding	ENST00000266022	20	160039

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.61e-8	125739	0	8	125747	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.17	475	628	0.756	0.0000343	7389
Missense in Polyphen		113	198.24	0.57002		2409
Synonymous	1.52	189	217	0.869	0.0000114	2097
Loss of Function	7.14	4	67.2	0.0596	0.00000425	719

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Specifically binds poly(G) RNA homopolymers in vitro.

Recessive Scores

• pRec: 0.0867

Intolerance Scores

• loftool: 0.121
• rvis_EVS: -0.55
• rvis_percentile_EVS: 20

Haploinsufficiency Scores

• pHI: 0.285
• hipred: Y
• hipred_score: 0.563
• ghis: 0.583

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0595

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm6

Gene ontology

• Biological process: RNA processing
• Cellular component: nucleus
• Molecular function: DNA binding;RNA binding;protein binding