ACTR8

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

Basic information

Region (hg38): 3:53867065-53882152

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.

• Inborn genetic diseases (24 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.

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			24			24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	24	0	0

Variants in ACTR8

This is a list of pathogenic ClinVar variants found in the ACTR8 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-53868727-C-T		not specified	Uncertain significance (Jan 11, 2023)
3-53868765-C-T		not specified	Uncertain significance (Dec 14, 2021)
3-53868814-A-C		not specified	Uncertain significance (May 25, 2022)
3-53870044-T-G		not specified	Uncertain significance (Apr 07, 2022)
3-53870100-A-C		not specified	Uncertain significance (Mar 03, 2022)
3-53871316-T-C		not specified	Uncertain significance (Dec 20, 2023)
3-53871366-C-G		not specified	Uncertain significance (Mar 07, 2024)
3-53871370-G-C		not specified	Uncertain significance (Dec 05, 2022)
3-53871420-G-A		not specified	Uncertain significance (Jan 10, 2023)
3-53872433-T-A		not specified	Uncertain significance (Mar 20, 2023)
3-53872521-G-A		not specified	Uncertain significance (Oct 17, 2023)
3-53872524-C-A		not specified	Uncertain significance (Jun 24, 2022)
3-53873105-T-C		not specified	Uncertain significance (Oct 24, 2023)
3-53874236-T-G		not specified	Uncertain significance (Mar 22, 2023)
3-53874273-T-C		not specified	Uncertain significance (Feb 07, 2023)
3-53876009-C-T		not specified	Uncertain significance (Sep 07, 2022)
3-53876051-C-T		not specified	Uncertain significance (Nov 03, 2023)
3-53876683-T-A		not specified	Uncertain significance (Jul 26, 2022)
3-53876685-T-C		not specified	Uncertain significance (Mar 01, 2023)
3-53877377-A-C		not specified	Uncertain significance (Apr 21, 2022)
3-53877688-T-C		not specified	Uncertain significance (Sep 14, 2023)
3-53877702-G-A		not specified	Uncertain significance (Jun 16, 2023)
3-53877711-T-C		not specified	Uncertain significance (Nov 27, 2023)
3-53877726-C-T		not specified	Uncertain significance (Dec 07, 2022)
3-53877741-T-G		not specified	Uncertain significance (May 23, 2023)

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
5.41e-15	0.533	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

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

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

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