RAVER2

ribonucleoprotein, PTB binding 2, the group of RNA binding motif containing

Basic information

Region (hg38): 1:64745075-64833232

Links

ENSG00000162437 ∙ NCBI:55225 ∙ OMIM:609953 ∙ HGNC:25577 ∙ Uniprot:Q9HCJ3 ∙ 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 RAVER2 gene.

• not_specified (69 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAVER2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001366165.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			64	5		69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAVER2	protein_coding	protein_coding	ENST00000371072	12	88138

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.52e-8	0.990	124759	0	36	124795	0.000144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.720	299	336	0.889	0.0000164	4380
Missense in Polyphen		96	112.37	0.85431		1461
Synonymous	0.212	124	127	0.976	0.00000657	1344
Loss of Function	2.40	18	32.8	0.549	0.00000176	406

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000130	0.000129
Ashkenazi Jewish	0.00	0.00
East Asian	0.000343	0.000334
Finnish	0.00	0.00
European (Non-Finnish)	0.000160	0.000159
Middle Eastern	0.000343	0.000334
South Asian	0.000303	0.000294
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May bind single-stranded nucleic acids. {ECO:0000305}.
• Pathway: miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase (Consensus)

Recessive Scores

• pRec: 0.0912

Intolerance Scores

• loftool: 0.641
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.26

Haploinsufficiency Scores

• pHI: 0.161
• hipred: N
• hipred_score: 0.266
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0892

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Raver2

Gene ontology

• Cellular component: nucleus;cytoplasm
• Molecular function: RNA binding