GeneBe

EVI5

ecotropic viral integration site 5

Basic information

Region (hg38): 1:92508696-92792404

Links

ENSG00000067208 ∙ NCBI:7813 ∙ OMIM:602942 ∙ HGNC:3501 ∙ Uniprot:O60447 ∙ 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 EVI5 gene.

  • not_specified (99 variants)
  • not_provided (3 variants)
  • EVI5-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EVI5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001350197.2. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
 2
missense
97
clinvar
3
clinvar
 100
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 97 4 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EVI5protein_codingprotein_codingENST00000370331 18283709
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.97e-110.99812551512321257480.000927
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7803704150.8920.00002075359
Missense in Polyphen65100.840.644591282
Synonymous0.5981341430.9360.000007481446
Loss of Function2.862545.90.5450.00000229562

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001240.00124
Ashkenazi Jewish0.009190.00897
East Asian0.0003820.000381
Finnish0.0006730.000647
European (Non-Finnish)0.0006160.000598
Middle Eastern0.0003820.000381
South Asian0.0006640.000621
Other0.0008410.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: Functions as a regulator of cell cycle progression by stabilizing the FBXO5 protein and promoting cyclin-A accumulation during interphase. May play a role in cytokinesis. {ECO:0000269|PubMed:16439210}.;
Disease
DISEASE: Note=A chromosomal aberration involving EVI5 is found is a patient with stage 4S neuroblastoma. Translocation t(1;10)(p22;q21) that forms a EVI5-TRNG10 fusion protein. TRNG10 is a probable structural transcript which is normally not translated. {ECO:0000269|PubMed:9618176}.;
Pathway
Aurora B signaling (Consensus)

Recessive Scores

pRec
0.106

Intolerance Scores

loftool
0.975
rvis_EVS
0.18
rvis_percentile_EVS
66.13

Haploinsufficiency Scores

pHI
0.310
hipred
Y
hipred_score
0.694
ghis
0.545

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.764

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Evi5
Phenotype
skeleton phenotype;

Gene ontology

Biological process
intracellular protein transport;cell cycle;multicellular organism development;cell population proliferation;retrograde transport, endosome to Golgi;positive regulation of GTPase activity;cell division;activation of GTPase activity;regulation of cilium assembly
Cellular component
nucleus;Golgi apparatus;microtubule organizing center;spindle;cytosol;intracellular membrane-bounded organelle
Molecular function
GTPase activator activity;protein binding;Rab GTPase binding