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.

• not_specified (76 variants)

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. These statistics are base on transcript: NM_000015014.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			74	2		76
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	74	2	0

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