ACTR5

actin related protein 5, the group of INO80 complex |Actin related proteins

Basic information

Region (hg38): 20:38748460-38772520

Links

ENSG00000101442 ∙ NCBI:79913 ∙ OMIM:619730 ∙ HGNC:14671 ∙ Uniprot:Q9H9F9 ∙ 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 ACTR5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTR5 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			50	2		52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	50	2	0

Variants in ACTR5

This is a list of pathogenic ClinVar variants found in the ACTR5 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-38748509-G-A		not specified	Uncertain significance (Apr 18, 2024)
20-38748516-C-T		not specified	Uncertain significance (May 27, 2022)
20-38748518-G-A		not specified	Uncertain significance (Nov 21, 2023)
20-38748530-G-A		not specified	Uncertain significance (Nov 11, 2024)
20-38748546-C-T		not specified	Uncertain significance (Aug 13, 2021)
20-38748554-C-T		not specified	Uncertain significance (Sep 01, 2021)
20-38748560-C-T		not specified	Uncertain significance (Oct 16, 2023)
20-38748567-C-T		not specified	Uncertain significance (Dec 13, 2023)
20-38748623-C-T		not specified	Uncertain significance (Jan 08, 2025)
20-38748624-C-G		not specified	Uncertain significance (Aug 10, 2021)
20-38748641-C-T		not specified	Uncertain significance (Sep 03, 2024)
20-38748644-G-A		not specified	Uncertain significance (Oct 25, 2022)
20-38748707-G-A		not specified	Uncertain significance (Dec 03, 2024)
20-38748720-G-A		not specified	Uncertain significance (Aug 02, 2021)
20-38748735-G-A		not specified	Uncertain significance (Feb 13, 2023)
20-38748747-T-A		not specified	Uncertain significance (Aug 19, 2023)
20-38748792-A-G		not specified	Uncertain significance (Nov 09, 2024)
20-38748843-T-A		not specified	Uncertain significance (Nov 10, 2024)
20-38750059-T-A		not specified	Uncertain significance (Feb 19, 2025)
20-38750100-T-C		not specified	Uncertain significance (Mar 07, 2025)
20-38750101-A-G		not specified	Uncertain significance (Mar 25, 2022)
20-38750136-C-T		not specified	Uncertain significance (May 14, 2024)
20-38750139-T-C		not specified	Uncertain significance (Jan 23, 2024)
20-38750142-A-G		not specified	Uncertain significance (Jan 12, 2024)
20-38750143-G-C		not specified	Uncertain significance (Jul 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTR5	protein_coding	protein_coding	ENST00000243903	9	23750

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.14e-9	0.771	125682	0	66	125748	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.405	310	331	0.937	0.0000184	3910
Missense in Polyphen		125	143.01	0.87408		1652
Synonymous	-1.25	149	131	1.14	0.00000703	1212
Loss of Function	1.54	18	26.5	0.678	0.00000127	316

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000371	0.000361
Ashkenazi Jewish	0.00	0.00
East Asian	0.00109	0.00103
Finnish	0.00	0.00
European (Non-Finnish)	0.000267	0.000264
Middle Eastern	0.00109	0.00103
South Asian	0.000262	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Involved in DNA double-strand break repair and UV-damage excision repair. {ECO:0000269|PubMed:19014934, ECO:0000269|PubMed:20855601}.
• 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: 0.108

Intolerance Scores

• loftool: 0.277
• rvis_EVS: 0.27
• rvis_percentile_EVS: 70.58

Haploinsufficiency Scores

• pHI: 0.150
• hipred: Y
• hipred_score: 0.571
• ghis: 0.522

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.792

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Actr5

Gene ontology

• Biological process: double-strand break repair;DNA recombination;protein deubiquitination;UV-damage excision repair
• Cellular component: nucleus;nucleoplasm;cytoplasm;Ino80 complex
• Molecular function: protein binding