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 (79 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3			3
missense			83			83
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4			4
Total	0	0	90	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTR8	protein_coding	protein_coding	ENST00000335754	13	15137

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125618	0	130	125748	0.000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.23	285	350	0.815	0.0000185	4080
Missense in Polyphen		120	132.22	0.90761		1522
Synonymous	0.532	121	129	0.940	0.00000704	1189
Loss of Function	1.61	28	38.9	0.721	0.00000236	402

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00162	0.00160
Ashkenazi Jewish	0.00	0.00
East Asian	0.000985	0.000979
Finnish	0.000140	0.000139
European (Non-Finnish)	0.000470	0.000440
Middle Eastern	0.000985	0.000979
South Asian	0.000521	0.000490
Other	0.000985	0.000978

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

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

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

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