ACTR6

actin related protein 6, the group of SRCAP complex|Actin related proteins

Basic information

Region (hg38): 12:100199122-100241865

Links

ENSG00000075089 ∙ NCBI:64431 ∙ OMIM:619729 ∙ HGNC:24025 ∙ Uniprot:Q9GZN1 ∙ 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 ACTR6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTR6 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in ACTR6

This is a list of pathogenic ClinVar variants found in the ACTR6 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-100210112-C-T		not specified	Uncertain significance (Aug 02, 2021)
12-100212295-A-C		not specified	Uncertain significance (Jan 10, 2023)
12-100212470-C-G		not specified	Uncertain significance (Mar 31, 2023)
12-100212470-C-T		not specified	Uncertain significance (Feb 28, 2024)
12-100218493-G-A		not specified	Uncertain significance (Aug 17, 2022)
12-100218497-C-T		not specified	Uncertain significance (Apr 05, 2023)
12-100218581-C-T		not specified	Uncertain significance (Jul 02, 2024)
12-100220016-C-G		not specified	Uncertain significance (Jan 02, 2024)
12-100220077-A-T		not specified	Uncertain significance (Oct 10, 2023)
12-100220079-C-T		not specified	Uncertain significance (Aug 02, 2021)
12-100220080-G-A		not specified	Uncertain significance (Nov 03, 2022)
12-100220100-T-C		not specified	Uncertain significance (Sep 24, 2024)
12-100223786-C-A		not specified	Uncertain significance (Dec 13, 2022)
12-100223793-A-T		not specified	Uncertain significance (Sep 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTR6	protein_coding	protein_coding	ENST00000188312	11	42744

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.46e-9	0.635	125689	0	59	125748	0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.89	132	209	0.632	0.0000103	2638
Missense in Polyphen		51	82	0.62195		990
Synonymous	0.766	59	67.0	0.881	0.00000333	684
Loss of Function	1.26	16	22.4	0.713	0.00000102	295

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000798	0.000794
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.000143	0.000139
European (Non-Finnish)	0.000262	0.000255
Middle Eastern	0.000164	0.000163
South Asian	0.000233	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.466

Intolerance Scores

• loftool: 0.555
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.560
• hipred: Y
• hipred_score: 0.756
• ghis: 0.666

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.736

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Actr6
• Phenotype: homeostasis/metabolism 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)

Gene ontology

• Biological process: chromatin remodeling
• Cellular component: nucleus;cytoplasm;cytoskeleton
• Molecular function: protein binding