RAVER2

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

Basic information

Region (hg38): 1:64745075-64833232

Links

ENSG00000162437NCBI:55225OMIM:609953HGNC:25577Uniprot:Q9HCJ3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAVER2 gene.

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.

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
0
missense
31
clinvar
3
clinvar
34
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 31 3 0

Variants in RAVER2

This is a list of pathogenic ClinVar variants found in the RAVER2 region.

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

Position Type Phenotype Significance ClinVar
1-64745179-G-A not specified Uncertain significance (Jan 29, 2024)3152004
1-64745200-G-T not specified Uncertain significance (Oct 17, 2023)3152001
1-64745206-G-A not specified Uncertain significance (Oct 26, 2021)2257392
1-64745206-G-C not specified Uncertain significance (Jun 17, 2024)2350302
1-64745269-C-G not specified Uncertain significance (Jan 09, 2024)2402407
1-64745326-G-C not specified Uncertain significance (Apr 25, 2022)2396320
1-64745353-A-T not specified Uncertain significance (Oct 21, 2021)2204050
1-64745408-A-G not specified Uncertain significance (Jul 12, 2022)2217776
1-64768678-A-G not specified Uncertain significance (Dec 28, 2022)2340037
1-64768680-T-C not specified Uncertain significance (Dec 07, 2024)3430824
1-64777656-A-G not specified Uncertain significance (Jan 23, 2023)2471108
1-64777661-G-A not specified Uncertain significance (Sep 08, 2024)3430827
1-64777661-G-T not specified Uncertain significance (Jun 23, 2021)2394904
1-64777729-T-G not specified Uncertain significance (Mar 29, 2023)2531127
1-64777751-G-A not specified Uncertain significance (Oct 03, 2022)2315476
1-64777751-G-C not specified Likely benign (Jul 05, 2023)2598409
1-64777800-A-G not specified Uncertain significance (Jan 29, 2024)3152002
1-64777838-G-C not specified Uncertain significance (Sep 15, 2021)3152003
1-64777950-C-T not specified Uncertain significance (Aug 04, 2023)2616388
1-64777979-T-G not specified Likely benign (Mar 30, 2024)3313011
1-64778048-C-G not specified Uncertain significance (Dec 05, 2024)3430823
1-64781472-C-A not specified Uncertain significance (Oct 03, 2022)2316000
1-64781518-C-T not specified Uncertain significance (Oct 04, 2024)3430828
1-64781554-A-G not specified Uncertain significance (Dec 04, 2023)3152005
1-64781558-C-T not specified Uncertain significance (Jul 30, 2023)2593187

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RAVER2protein_codingprotein_codingENST00000371072 1288138
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.52e-80.9901247590361247950.000144
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7202993360.8890.00001644380
Missense in Polyphen96112.370.854311461
Synonymous0.2121241270.9760.000006571344
Loss of Function2.401832.80.5490.00000176406

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001300.000129
Ashkenazi Jewish0.000.00
East Asian0.0003430.000334
Finnish0.000.00
European (Non-Finnish)0.0001600.000159
Middle Eastern0.0003430.000334
South Asian0.0003030.000294
Other0.0001660.000165

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Raver2
Phenotype

Gene ontology

Biological process
Cellular component
nucleus;cytoplasm
Molecular function
RNA binding