RBM12B

RNA binding motif protein 12B, the group of RNA binding motif containing

Basic information

Region (hg38): 8:93728155-93741017

Links

ENSG00000183808 ∙ NCBI:389677 ∙ ∙ HGNC:32310 ∙ Uniprot:Q8IXT5 ∙ 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 RBM12B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM12B 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			64	2		66
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	66	2	0

Variants in RBM12B

This is a list of pathogenic ClinVar variants found in the RBM12B region.

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

Position	Type	Phenotype	Significance	ClinVar
8-93728215-G-T		not specified	Uncertain significance (Mar 31, 2023)
8-93728227-A-G		not specified	Uncertain significance (Feb 28, 2023)
8-93733421-T-G		not specified	Uncertain significance (Dec 19, 2022)
8-93733492-C-T		not specified	Uncertain significance (Nov 17, 2022)
8-93733575-G-A		not specified	Uncertain significance (Sep 28, 2021)
8-93733605-C-T		not specified	Uncertain significance (Feb 15, 2023)
8-93733742-C-G		not specified	Uncertain significance (Nov 03, 2023)
8-93733743-G-A		not specified	Uncertain significance (Dec 10, 2024)
8-93733781-T-C		not specified	Uncertain significance (Mar 19, 2024)
8-93733847-G-A		not specified	Uncertain significance (Apr 19, 2023)
8-93733986-C-T		not specified	Uncertain significance (Jul 05, 2023)
8-93734024-C-A		not specified	Uncertain significance (Aug 20, 2024)
8-93734036-T-G		not specified	Uncertain significance (May 18, 2022)
8-93734064-G-A		not specified	Uncertain significance (Sep 27, 2024)
8-93734066-G-A		not specified	Uncertain significance (Sep 22, 2023)
8-93734078-T-G		not specified	Uncertain significance (Oct 29, 2021)
8-93734090-G-A		not specified	Uncertain significance (Nov 07, 2024)
8-93734135-G-A		not specified	Uncertain significance (Oct 12, 2022)
8-93734146-G-C		not specified	Uncertain significance (Feb 07, 2023)
8-93734216-C-A		not specified	Uncertain significance (Jun 27, 2022)
8-93734241-G-A		not specified	Uncertain significance (Aug 08, 2023)
8-93734247-G-A		not specified	Uncertain significance (Feb 10, 2023)
8-93734256-G-C		not specified	Uncertain significance (Aug 17, 2022)
8-93734261-T-C		not specified	Likely benign (Sep 11, 2024)
8-93734295-C-A		not specified	Uncertain significance (Aug 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM12B	protein_coding	protein_coding	ENST00000399300	1	11662

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00498	0.995	124740	0	54	124794	0.000216

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.859	514	572	0.899	0.0000346	6646
Missense in Polyphen		179	248.97	0.71897		2891
Synonymous	-2.14	235	197	1.19	0.0000104	1933
Loss of Function	3.55	10	31.5	0.318	0.00000224	370

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000316	0.000310
Ashkenazi Jewish	0.0000995	0.0000993
East Asian	0.000111	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.000196	0.000177
Middle Eastern	0.000111	0.000111
South Asian	0.00144	0.000752
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.453
• rvis_EVS: -0.53
• rvis_percentile_EVS: 20.89

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.270
• ghis: 0.606

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.765

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm12b2

Gene ontology

• Molecular function: RNA binding;protein binding