ACTL8

actin like 8, the group of Actin related proteins

Basic information

Region (hg38): 1:17755332-17827063

Links

ENSG00000117148 ∙ NCBI:81569 ∙ ∙ HGNC:24018 ∙ Uniprot:Q9H568 ∙ 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 ACTL8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTL8 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in ACTL8

This is a list of pathogenic ClinVar variants found in the ACTL8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-17823024-G-C		not specified	Uncertain significance (Mar 22, 2023)
1-17823064-C-T		not specified	Uncertain significance (Apr 07, 2022)
1-17823069-G-A		not specified	Uncertain significance (Oct 29, 2021)
1-17823190-A-G		not specified	Uncertain significance (Aug 12, 2021)
1-17823220-G-T		not specified	Uncertain significance (Apr 13, 2022)
1-17823222-A-G		not specified	Likely benign (May 20, 2024)
1-17823225-C-G		not specified	Uncertain significance (Aug 02, 2023)
1-17823312-G-A		not specified	Uncertain significance (Feb 23, 2023)
1-17825909-G-A		not specified	Uncertain significance (May 31, 2022)
1-17825947-G-A		not specified	Uncertain significance (Jul 16, 2021)
1-17825963-C-T		not specified	Uncertain significance (Oct 26, 2021)
1-17825978-G-A		not specified	Uncertain significance (May 30, 2024)
1-17826031-G-A		not specified	Uncertain significance (Jul 12, 2022)
1-17826034-G-A		not specified	Uncertain significance (Apr 20, 2024)
1-17826035-T-G		not specified	Uncertain significance (Sep 27, 2021)
1-17826067-A-G		not specified	Uncertain significance (Mar 16, 2024)
1-17826074-G-C		not specified	Uncertain significance (Aug 17, 2022)
1-17826079-G-A		not specified	Uncertain significance (Jul 20, 2021)
1-17826154-G-A		not specified	Uncertain significance (Apr 26, 2023)
1-17826176-G-A		not specified	Uncertain significance (Feb 28, 2023)
1-17826208-G-T		not specified	Uncertain significance (Nov 30, 2022)
1-17826239-G-A		not specified	Likely benign (Aug 17, 2021)
1-17826277-C-G		not specified	Uncertain significance (Sep 06, 2022)
1-17826379-T-A		not specified	Uncertain significance (Jan 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTL8	protein_coding	protein_coding	ENST00000375406	2	71751

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.318	0.619	125740	0	7	125747	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.882	199	237	0.839	0.0000153	2380
Missense in Polyphen		36	74.686	0.48202		733
Synonymous	-1.38	122	104	1.17	0.00000712	755
Loss of Function	1.44	1	4.18	0.239	1.79e-7	46

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000266	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.448

Intolerance Scores

• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.69

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.428
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.171

Gene Damage Prediction

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

Gene ontology

• Biological process: epithelial cell differentiation
• Cellular component: cytoplasm;cytoskeleton
• Molecular function: protein binding