RBM11

RNA binding motif protein 11, the group of RNA binding motif containing

Basic information

Region (hg38): 21:14216130-14228372

Links

ENSG00000185272 ∙ NCBI:54033 ∙ OMIM:617937 ∙ HGNC:9897 ∙ Uniprot:P57052 ∙ 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 RBM11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM11 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			26	3		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	3	0

Variants in RBM11

This is a list of pathogenic ClinVar variants found in the RBM11 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-14216192-C-G		not specified	Uncertain significance (Jun 11, 2021)
21-14216199-C-G		not specified	Uncertain significance (Jan 19, 2022)
21-14219564-C-T		not specified	Uncertain significance (Sep 03, 2024)
21-14219687-G-A		not specified	Uncertain significance (Jul 09, 2024)
21-14219710-G-A		not specified	Uncertain significance (Feb 12, 2025)
21-14219717-A-G		not specified	Uncertain significance (Nov 14, 2023)
21-14219720-G-A		not specified	Uncertain significance (Mar 17, 2023)
21-14221105-C-T		not specified	Uncertain significance (Jun 11, 2021)
21-14221147-A-G		not specified	Uncertain significance (Feb 15, 2023)
21-14224447-A-T		not specified	Uncertain significance (Dec 06, 2023)
21-14224457-G-A		not specified	Uncertain significance (Mar 14, 2023)
21-14224490-A-G		not specified	Uncertain significance (Jul 14, 2022)
21-14224497-A-C		not specified	Uncertain significance (Dec 17, 2023)
21-14224499-A-T		not specified	Uncertain significance (Dec 17, 2023)
21-14224515-A-G		not specified	Uncertain significance (May 08, 2024)
21-14226962-C-A		not specified	Uncertain significance (Dec 30, 2023)
21-14227009-A-G		not specified	Likely benign (Dec 16, 2022)
21-14227015-A-G		not specified	Uncertain significance (Nov 13, 2024)
21-14227019-A-G		not specified	Uncertain significance (Jul 05, 2023)
21-14227042-C-A		not specified	Uncertain significance (Dec 27, 2023)
21-14227049-A-G		not specified	Uncertain significance (Mar 15, 2024)
21-14227057-G-C		not specified	Uncertain significance (Jun 23, 2023)
21-14227073-G-C		not specified	Uncertain significance (Feb 13, 2025)
21-14227075-G-A		not specified	Likely benign (Nov 11, 2024)
21-14227081-G-A		not specified	Uncertain significance (Aug 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM11	protein_coding	protein_coding	ENST00000400577	5	12243

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000224	0.747	124627	0	27	124654	0.000108

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.380	126	139	0.909	0.00000665	1831
Missense in Polyphen		47	42.825	1.0975		554
Synonymous	0.769	44	51.0	0.863	0.00000265	511
Loss of Function	1.11	9	13.4	0.672	7.29e-7	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000271	0.000270
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000167
Finnish	0.000293	0.000278
European (Non-Finnish)	0.0000447	0.0000442
Middle Eastern	0.000167	0.000167
South Asian	0.000168	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tissue-specific splicing factor with potential implication in the regulation of alternative splicing during neuron and germ cell differentiation. Antagonizes SRSF1-mediated BCL-X splicing. May affect the choice of alternative 5' splice sites by binding to specific sequences in exons and antagonizing the SR protein SRSF1. {ECO:0000269|PubMed:21984414}.

Recessive Scores

• pRec: 0.0845

Intolerance Scores

• loftool: 0.787
• rvis_EVS: 1.62
• rvis_percentile_EVS: 95.96

Haploinsufficiency Scores

• pHI: 0.137
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.737

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm11

Gene ontology

• Biological process: regulation of alternative mRNA splicing, via spliceosome;mRNA processing;multicellular organism development;RNA splicing;cell differentiation;cellular response to oxidative stress
• Cellular component: nucleus;nucleoplasm;nuclear speck
• Molecular function: single-stranded RNA binding;protein binding;poly(U) RNA binding;protein homodimerization activity