RBM7

RNA binding motif protein 7, the group of RNA binding motif containing|Nuclear exosome targeting complex

Basic information

Region (hg38): 11:114400030-114414203

Links

ENSG00000076053

∙ NCBI:10179 ∙ OMIM:612413 ∙ HGNC:9904 ∙ Uniprot:Q9Y580 ∙ 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 RBM7 gene.

not_specified (28 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001286045.2. 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			30 clinvar			30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM7	protein_coding	protein_coding	ENST00000540163	5	14174

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.648	0.351	125740	0	5	125745	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.825	118	146	0.808	0.00000727	1752
Missense in Polyphen		17	34.903	0.48706		466
Synonymous	-0.380	53	49.6	1.07	0.00000235	481
Loss of Function	2.68	2	12.0	0.167	5.06e-7	154

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000445	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). Possible involved in germ cell RNA processing and meiosis (Probable). {ECO:0000269|PubMed:27871484, ECO:0000305|PubMed:12634307}.;

Recessive Scores

pRec: 0.102

Intolerance Scores

loftool: 0.386
rvis_EVS: -0.23
rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

pHI: 0.249
hipred: N
hipred_score: 0.458
ghis: 0.490

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.970

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rbm7
Phenotype

Zebrafish Information Network

Gene name: rbm7
Affected structure: motor neuron
Phenotype tag: abnormal
Phenotype quality: branchiness

Gene ontology

Biological process: regulation of alternative mRNA splicing, via spliceosome;meiotic cell cycle
Cellular component: nucleus;nucleoplasm;nucleolus
Molecular function: RNA binding;single-stranded RNA binding;protein binding