ACTR10

actin related protein 10, the group of Actin related proteins|Dynactin subunits

Basic information

Region (hg38): 14:58200080-58235636

Links

ENSG00000131966 ∙ NCBI:55860 ∙ OMIM:619731 ∙ HGNC:17372 ∙ Uniprot:Q9NZ32 ∙ 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 ACTR10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTR10 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 ACTR10

This is a list of pathogenic ClinVar variants found in the ACTR10 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-58200233-G-A		not specified	Uncertain significance (Jun 10, 2024)
14-58200274-C-G		not specified	Uncertain significance (Jul 14, 2022)
14-58200284-G-T		not specified	Uncertain significance (Nov 28, 2023)
14-58207949-T-G		not specified	Uncertain significance (Aug 12, 2021)
14-58209084-C-T		not specified	Uncertain significance (Jan 31, 2023)
14-58215244-C-A		not specified	Uncertain significance (May 23, 2024)
14-58215246-C-A		not specified	Uncertain significance (Apr 24, 2024)
14-58219703-C-T		not specified	Uncertain significance (Nov 12, 2021)
14-58223622-C-T		not specified	Likely benign (Dec 27, 2023)
14-58223624-C-T		not specified	Uncertain significance (Mar 21, 2023)
14-58223627-A-C		not specified	Uncertain significance (May 26, 2023)
14-58223652-G-A		not specified	Uncertain significance (Oct 13, 2021)
14-58223688-A-T		not specified	Uncertain significance (Mar 31, 2024)
14-58223811-A-G		not specified	Uncertain significance (Apr 09, 2024)
14-58223813-C-G		not specified	Uncertain significance (Nov 17, 2023)
14-58223847-G-T		not specified	Uncertain significance (Jun 04, 2024)
14-58230472-C-T		not specified	Uncertain significance (Dec 28, 2023)
14-58232123-T-A		not specified	Uncertain significance (Jul 11, 2023)
14-58232149-A-T		not specified	Uncertain significance (Jan 24, 2024)
14-58232184-C-A		not specified	Uncertain significance (May 09, 2023)
14-58234373-C-T		not specified	Uncertain significance (May 27, 2022)
14-58234430-A-T		not specified	Uncertain significance (May 26, 2023)
14-58234439-C-T		not specified	Uncertain significance (May 09, 2023)
14-58234469-A-G		not specified	Uncertain significance (Jan 04, 2022)
14-58234501-G-A		not specified	Uncertain significance (May 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTR10	protein_coding	protein_coding	ENST00000254286	13	34953

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00151	0.997	125716	0	27	125743	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	174	223	0.780	0.0000113	2673
Missense in Polyphen		51	69.077	0.73831		850
Synonymous	-0.232	80	77.4	1.03	0.00000378	821
Loss of Function	2.82	9	23.9	0.377	0.00000124	310

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000327	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000152	0.000149
Middle Eastern	0.000327	0.000326
South Asian	0.0000700	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Neutrophil degranulation;Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;TCR;Innate Immune System;Immune System;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;COPI-independent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;COPI-mediated anterograde transport;ER to Golgi Anterograde Transport;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.249
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.235
• hipred: N
• hipred_score: 0.492
• ghis: 0.584

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0995

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Actr10

Gene ontology

• Biological process: endoplasmic reticulum to Golgi vesicle-mediated transport;microtubule-based movement;antigen processing and presentation of exogenous peptide antigen via MHC class II;neutrophil degranulation
• Cellular component: extracellular region;cytosol;dynactin complex;azurophil granule lumen;ficolin-1-rich granule lumen
• Molecular function: protein binding