RBM34

RNA binding motif protein 34, the group of RNA binding motif containing

Basic information

Region (hg38): 1:235131183-235161283

Links

ENSG00000188739 ∙ NCBI:23029 ∙ OMIM:619915 ∙ HGNC:28965 ∙ Uniprot:P42696 ∙ 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 RBM34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM34 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			31	1		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	1	0

Variants in RBM34

This is a list of pathogenic ClinVar variants found in the RBM34 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-235131741-C-T		not specified	Uncertain significance (Jul 16, 2021)
1-235131774-T-G		not specified	Uncertain significance (Dec 27, 2023)
1-235131777-A-C		not specified	Uncertain significance (May 09, 2023)
1-235131786-G-A		not specified	Uncertain significance (Apr 01, 2024)
1-235131867-A-C		not specified	Uncertain significance (Jul 13, 2022)
1-235131883-G-T		not specified	Uncertain significance (Dec 01, 2022)
1-235131924-C-A		not specified	Uncertain significance (Dec 02, 2022)
1-235131948-A-T		not specified	Uncertain significance (Jan 23, 2024)
1-235131949-T-G		not specified	Uncertain significance (Dec 28, 2022)
1-235131972-A-G		not specified	Uncertain significance (Aug 16, 2021)
1-235131978-A-C		not specified	Uncertain significance (Jan 03, 2024)
1-235131985-C-T		not specified	Uncertain significance (Mar 19, 2024)
1-235135713-A-G		not specified	Uncertain significance (Apr 29, 2024)
1-235135714-C-T		not specified	Uncertain significance (Apr 12, 2023)
1-235135723-T-G		not specified	Uncertain significance (Aug 22, 2023)
1-235135761-T-C		not specified	Uncertain significance (Jan 09, 2024)
1-235137905-C-G		not specified	Uncertain significance (Apr 01, 2024)
1-235138106-G-A		not specified	Uncertain significance (Jan 30, 2024)
1-235138112-G-A		not specified	Uncertain significance (Oct 05, 2023)
1-235148431-G-A		not specified	Uncertain significance (Aug 12, 2021)
1-235152740-T-C		not specified	Uncertain significance (Feb 15, 2023)
1-235154924-C-T		not specified	Uncertain significance (Feb 14, 2023)
1-235154961-G-C		not specified	Uncertain significance (Aug 28, 2023)
1-235155024-C-T		not specified	Uncertain significance (Aug 11, 2022)
1-235155054-T-C		not specified	Uncertain significance (Jun 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM34	protein_coding	protein_coding	ENST00000408888	11	30275

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.64e-15	0.0129	124738	0	71	124809	0.000284

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.394	251	234	1.07	0.0000121	2845
Missense in Polyphen		55	54.299	1.0129		695
Synonymous	-1.36	100	84.1	1.19	0.00000445	788
Loss of Function	-0.0121	22	21.9	1.00	0.00000112	286

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000560	0.000557
Ashkenazi Jewish	0.00	0.00
East Asian	0.000615	0.000612
Finnish	0.00	0.00
European (Non-Finnish)	0.000333	0.000327
Middle Eastern	0.000615	0.000612
South Asian	0.000265	0.000261
Other	0.000334	0.000330

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.507
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.18

Haploinsufficiency Scores

• pHI: 0.589
• hipred: N
• hipred_score: 0.123
• ghis: 0.453

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.513

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm34

Gene ontology

• Cellular component: nucleus;nucleolus
• Molecular function: RNA binding