RBM26

RNA binding motif protein 26, the group of RNA binding motif containing|Protein phosphatase 1 regulatory subunits|Zinc fingers CCCH-type

Basic information

Region (hg38): 13:79311823-79406477

Previous symbols: [ "C13orf10" ]

Links

ENSG00000139746 ∙ NCBI:64062 ∙ OMIM:620081 ∙ HGNC:20327 ∙ Uniprot:Q5T8P6 ∙ 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 RBM26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM26 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
missense			25	2	1	28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	1	1	3
non coding						0
Total	0	0	25	3	1

Variants in RBM26

This is a list of pathogenic ClinVar variants found in the RBM26 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-79320677-G-C		not specified	Uncertain significance (Dec 27, 2023)
13-79322372-C-G			Likely benign (Aug 21, 2018)
13-79322390-A-T		not specified	Uncertain significance (Dec 19, 2022)
13-79322443-C-T		not specified	Uncertain significance (May 21, 2024)
13-79337132-G-A			Likely benign (Dec 31, 2019)
13-79337133-C-T		not specified	Uncertain significance (Oct 26, 2021)
13-79337154-T-G		not specified	Uncertain significance (Oct 13, 2023)
13-79337271-C-G		not specified	Uncertain significance (Apr 18, 2023)
13-79337300-A-C			Likely benign (Apr 16, 2018)
13-79341120-T-C			Uncertain significance (Jul 01, 2022)
13-79342779-G-A		not specified	Uncertain significance (May 13, 2024)
13-79342785-T-C		not specified	Uncertain significance (Jan 03, 2024)
13-79354455-G-A		not specified	Uncertain significance (May 14, 2024)
13-79354483-T-C		not specified	Likely benign (Feb 27, 2024)
13-79354510-G-A		not specified	Uncertain significance (Dec 01, 2023)
13-79358348-C-G		not specified	Uncertain significance (Nov 01, 2022)
13-79358413-T-C			Benign (Dec 31, 2019)
13-79358422-T-C		not specified	Uncertain significance (Mar 22, 2022)
13-79359600-G-C		not specified	Uncertain significance (Feb 15, 2023)
13-79359675-T-G		not specified	Uncertain significance (Feb 17, 2024)
13-79365596-T-C		not specified	Uncertain significance (Oct 06, 2022)
13-79365641-C-G		not specified	Uncertain significance (Oct 26, 2022)
13-79366184-G-A		not specified	Uncertain significance (Jan 17, 2024)
13-79366701-G-T		not specified	Uncertain significance (May 13, 2024)
13-79368822-G-A		not specified	Uncertain significance (Dec 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM26	protein_coding	protein_coding	ENST00000267229	21	94651

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	3.46e-8	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.53	358	520	0.688	0.0000266	6389
Missense in Polyphen		112	189.15	0.59211		2341
Synonymous	-0.561	183	174	1.05	0.00000829	1901
Loss of Function	6.71	2	56.3	0.0355	0.00000360	641

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000276	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.000182	0.000163
Other	0.000207	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.258
• rvis_EVS: -1.42
• rvis_percentile_EVS: 4.1

Haploinsufficiency Scores

• pHI: 0.499
• hipred: Y
• hipred_score: 0.673
• ghis: 0.712

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.944

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm26

Gene ontology

• Biological process: mRNA processing;negative regulation of phosphatase activity;positive regulation of RNA export from nucleus
• Cellular component: nucleus
• Molecular function: RNA binding;mRNA binding;protein binding;metal ion binding