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.

not_specified (65 variants)
not_provided (1 variants)

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. These statistics are base on transcript: NM_000006328.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			65 clinvar			65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	1	0

Loading clinvar variants...

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
Phenotype

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