RBM19

RNA binding motif protein 19, the group of RNA binding motif containing|SSU processome

Basic information

Region (hg38): 12:113816738-113966325

Links

ENSG00000122965

∙ NCBI:9904 ∙ OMIM:616444 ∙ HGNC:29098 ∙ Uniprot:Q9Y4C8 ∙ 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 RBM19 gene.

not_specified (157 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM19 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016196.4. 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						0
missense			151 clinvar	6 clinvar		157
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	151	6	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM19	protein_coding	protein_coding	ENST00000545145	24	149634

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.72e-12	0.999	125620	1	127	125748	0.000509

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.176	583	571	1.02	0.0000346	6307
Missense in Polyphen		187	201.58	0.92767		2044
Synonymous	0.541	234	245	0.956	0.0000168	1823
Loss of Function	3.14	28	52.6	0.532	0.00000267	623

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000940	0.000940
Ashkenazi Jewish	0.00	0.00
East Asian	0.000762	0.000761
Finnish	0.000241	0.000231
European (Non-Finnish)	0.000443	0.000440
Middle Eastern	0.000762	0.000761
South Asian	0.000884	0.000850
Other	0.000659	0.000489

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role in embryo pre-implantation development. {ECO:0000250}.;
Pathway: miR-targeted genes in lymphocytes - TarBase (Consensus)

Recessive Scores

pRec: 0.168

Intolerance Scores

loftool: 0.924
rvis_EVS: 0.04
rvis_percentile_EVS: 56.27

Haploinsufficiency Scores

pHI: 0.233
hipred: Y
hipred_score: 0.528
ghis: 0.528

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.895

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Rbm19
Phenotype: embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cellular phenotype;

Zebrafish Information Network

Gene name: rbm19
Affected structure: anatomical system
Phenotype tag: abnormal
Phenotype quality: quality

Gene ontology

Biological process: regulation of alternative mRNA splicing, via spliceosome;multicellular organism development;positive regulation of embryonic development;mRNA cis splicing, via spliceosome
Cellular component: nucleoplasm;chromosome;nucleolus;cytoplasm;membrane;nuclear speck
Molecular function: RNA binding