GeneBe

ACTR8

actin related protein 8, the group of Actin related proteins|INO80 complex

Basic information

Region (hg38): 3:53867066-53882152

Links

ENSG00000113812 ∙ NCBI:93973 ∙ OMIM:619716 ∙ HGNC:14672 ∙ Uniprot:Q9H981 ∙ 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 ACTR8 gene.

  • not_specified (67 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTR8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022899.5. 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
0
missense
67
clinvar
 67
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 67 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ACTR8protein_codingprotein_codingENST00000335754 1315137
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
5.41e-150.53312561801301257480.000517
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.232853500.8150.00001854080
Missense in Polyphen120132.220.907611522
Synonymous0.5321211290.9400.000007041189
Loss of Function1.612838.90.7210.00000236402

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001620.00160
Ashkenazi Jewish0.000.00
East Asian0.0009850.000979
Finnish0.0001400.000139
European (Non-Finnish)0.0004700.000440
Middle Eastern0.0009850.000979
South Asian0.0005210.000490
Other0.0009850.000978

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays an important role in the functional organization of mitotic chromosomes. Exhibits low basal ATPase activity, and unable to polymerize.;
Pathway
DNA Repair;Post-translational protein modification;Metabolism of proteins;UCH proteinases;Deubiquitination;DNA Damage Recognition in GG-NER;Global Genome Nucleotide Excision Repair (GG-NER);Nucleotide Excision Repair (Consensus)

Recessive Scores

pRec
0.111

Intolerance Scores

loftool
0.396
rvis_EVS
-0.62
rvis_percentile_EVS
17.31

Haploinsufficiency Scores

pHI
0.567
hipred
Y
hipred_score
0.658
ghis
0.596

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.887

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Actr8
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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);

Gene ontology

Biological process
DNA repair;DNA recombination;chromatin remodeling;cell cycle;protein deubiquitination;cell division
Cellular component
nucleus;nucleoplasm;centrosome;Ino80 complex
Molecular function
protein binding;ATP binding