RBM14

RNA binding motif protein 14, the group of RNA binding motif containing

Basic information

Region (hg38): 11:66616626-66629934

Links

ENSG00000239306 ∙ NCBI:10432 ∙ OMIM:612409 ∙ HGNC:14219 ∙ Uniprot:Q96PK6 ∙ 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 RBM14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM14 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			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	1	0

Variants in RBM14

This is a list of pathogenic ClinVar variants found in the RBM14 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-66624391-A-T		not specified	Uncertain significance (Jun 16, 2024)
11-66624396-G-A		not specified	Uncertain significance (Aug 02, 2022)
11-66624421-C-G		not specified	Uncertain significance (Mar 26, 2024)
11-66624440-G-T		not specified	Uncertain significance (Mar 25, 2024)
11-66624459-A-G		not specified	Uncertain significance (Apr 29, 2024)
11-66624473-T-C			Likely benign (Nov 01, 2023)
11-66624498-C-T		not specified	Uncertain significance (Jan 03, 2022)
11-66624499-C-A		not specified	Uncertain significance (Jan 16, 2024)
11-66624523-C-G		not specified	Uncertain significance (Dec 19, 2022)
11-66624529-G-A		not specified	Uncertain significance (Feb 01, 2023)
11-66624603-G-A		not specified	Uncertain significance (Jan 04, 2022)
11-66624658-A-G		not specified	Uncertain significance (Dec 01, 2022)
11-66624676-C-T		not specified	Uncertain significance (Dec 15, 2022)
11-66624699-G-A		not specified	Uncertain significance (Jun 10, 2024)
11-66624769-C-G		not specified	Uncertain significance (Mar 28, 2023)
11-66624772-C-T		not specified	Uncertain significance (Nov 09, 2021)
11-66624795-G-A		not specified	Uncertain significance (Mar 07, 2023)
11-66624826-C-G		not specified	Uncertain significance (Mar 17, 2023)
11-66624834-G-A		not specified	Uncertain significance (Sep 12, 2023)
11-66624856-C-T		not specified	Uncertain significance (Oct 05, 2022)
11-66624868-A-G		not specified	Uncertain significance (Apr 30, 2024)
11-66624934-C-T		not specified	Uncertain significance (Nov 10, 2022)
11-66625143-G-A		not specified	Uncertain significance (Mar 07, 2023)
11-66625174-T-C		not specified	Uncertain significance (Apr 26, 2024)
11-66625240-C-G		not specified	Uncertain significance (May 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM14	protein_coding	protein_coding	ENST00000310137	3	10766

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00157	125266	0	2	125268	0.00000798

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.11	318	443	0.718	0.0000280	4188
Missense in Polyphen		25	84.205	0.2969		699
Synonymous	-0.695	208	196	1.06	0.0000131	1547
Loss of Function	4.27	1	23.2	0.0431	0.00000110	255

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000882	0.00000881
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1 may function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. Isoform 2, functions as a transcriptional repressor, modulating transcriptional activities of coactivators including isoform 1, NCOA6 and CITED1 (PubMed:11443112). Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity. Prevents the formation of the STIL-CENPJ complex (which can induce the formation of aberrant centriolar protein complexes) by interfering with the interaction of STIL with CENPJ (PubMed:25385835). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). {ECO:0000269|PubMed:11443112, ECO:0000269|PubMed:25385835, ECO:0000269|PubMed:28712728}.
• Pathway: RUNX2 regulates bone development;Transcriptional regulation by RUNX2;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.147

Intolerance Scores

• loftool: 0.00799
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.57

Haploinsufficiency Scores

• pHI: 0.846
• hipred: Y
• hipred_score: 0.630
• ghis: 0.612

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.747

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbm14

Gene ontology

• Biological process: activation of innate immune response;DNA replication;DNA repair;DNA recombination;response to hormone;histone deacetylation;intracellular estrogen receptor signaling pathway;glucocorticoid receptor signaling pathway;innate immune response;positive regulation of transcription by RNA polymerase II;negative regulation of centriole replication;SMAD protein signal transduction;centriole assembly
• Cellular component: nucleus;nucleoplasm;transcription factor complex;nucleolus;cytoplasm;mediator complex;nuclear speck;ribonucleoprotein complex
• Molecular function: transcription coregulator activity;RNA binding;protein binding;nuclear receptor transcription coactivator activity;protein binding, bridging