RBMS3

RNA binding motif single stranded interacting protein 3, the group of RNA binding motif containing

Basic information

Region (hg38): 3:28574791-30010391

Links

ENSG00000144642 ∙ NCBI:27303 ∙ OMIM:605786 ∙ HGNC:13427 ∙ Uniprot:Q6XE24 ∙ 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 RBMS3 gene.

• not_specified (49 variants)
• not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBMS3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001003793.3. 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				2	3	5
missense			49			49
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	2	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBMS3	protein_coding	protein_coding	ENST00000383767	15	729414

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.213	0.787	125718	0	28	125746	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	185	241	0.769	0.0000118	2864
Missense in Polyphen		76	117.99	0.64414		1417
Synonymous	0.751	76	84.8	0.896	0.00000476	805
Loss of Function	3.78	7	28.9	0.242	0.00000147	317

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00113	0.00113
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000449	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds poly(A) and poly(U) oligoribonucleotides. {ECO:0000269|PubMed:10675610}.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.749
• rvis_EVS: -0.6
• rvis_percentile_EVS: 17.75

Haploinsufficiency Scores

• pHI: 0.610
• hipred: Y
• hipred_score: 0.649
• ghis: 0.668

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.427

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbms3

Zebrafish Information Network

• Gene name: rbms3
• Affected structure: chondrocranium cartilage
• Phenotype tag: abnormal
• Phenotype quality: malformed

Gene ontology

• Biological process: defense response to tumor cell;positive regulation of gene expression;negative regulation of gene expression;positive regulation of translation;negative regulation of canonical Wnt signaling pathway
• Cellular component: nucleus;cytoplasm;cytosol;ribonucleoprotein complex
• Molecular function: RNA binding;mRNA 3'-UTR binding;poly(A) binding;poly(U) RNA binding;mRNA 3'-UTR AU-rich region binding