ACTL7B

actin like 7B, the group of Actin related proteins

Basic information

Region (hg38): 9:108854588-108855986

Links

ENSG00000148156 ∙ NCBI:10880 ∙ OMIM:604304 ∙ HGNC:162 ∙ Uniprot:Q9Y614 ∙ 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 ACTL7B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTL7B 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					1	1
missense			30	3	1	34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	3	2

Variants in ACTL7B

This is a list of pathogenic ClinVar variants found in the ACTL7B region.

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

Position	Type	Phenotype	Significance	ClinVar
9-108854700-T-C		not specified	Uncertain significance (May 29, 2024)
9-108854795-G-A		not specified	Uncertain significance (Apr 12, 2024)
9-108854859-C-T		not specified	Uncertain significance (Dec 11, 2023)
9-108854871-G-A		not specified	Uncertain significance (Oct 25, 2022)
9-108854894-G-C			Benign (Nov 01, 2023)
9-108855008-G-A		not specified	Likely benign (May 27, 2022)
9-108855060-T-C		not specified	Uncertain significance (Jul 25, 2023)
9-108855065-A-G		not specified	Uncertain significance (Jul 13, 2022)
9-108855075-C-T		not specified	Uncertain significance (Oct 17, 2023)
9-108855087-C-T		not specified	Uncertain significance (Mar 20, 2023)
9-108855110-G-A		not specified	Likely benign (Aug 02, 2021)
9-108855142-G-T			Benign (May 29, 2018)
9-108855149-T-A		not specified	Uncertain significance (Feb 27, 2023)
9-108855197-G-C		not specified	Uncertain significance (May 10, 2024)
9-108855204-C-T		not specified	Uncertain significance (May 29, 2024)
9-108855210-C-T		not specified	Uncertain significance (Jun 17, 2024)
9-108855273-T-A		not specified	Uncertain significance (Sep 25, 2023)
9-108855275-G-A		not specified	Uncertain significance (Sep 25, 2023)
9-108855275-G-C		not specified	Uncertain significance (May 20, 2024)
9-108855299-T-C		not specified	Uncertain significance (Jun 03, 2022)
9-108855302-G-A		not specified	Uncertain significance (Jul 06, 2022)
9-108855377-G-C		not specified	Uncertain significance (Mar 21, 2024)
9-108855399-C-T		not specified	Uncertain significance (Dec 01, 2022)
9-108855438-C-T		not specified	Uncertain significance (Oct 05, 2023)
9-108855441-C-T		not specified	Uncertain significance (Jun 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTL7B	protein_coding	protein_coding	ENST00000374667	1	2369

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000245	0.307	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.511	268	293	0.916	0.0000205	2677
Missense in Polyphen		106	119.43	0.88757		1210
Synonymous	0.601	129	138	0.935	0.0000116	850
Loss of Function	0.252	9	9.85	0.913	4.22e-7	112

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.485

Intolerance Scores

• loftool: 0.169
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.34

Haploinsufficiency Scores

• pHI: 0.487
• hipred: N
• hipred_score: 0.375
• ghis: 0.483

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.212

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Actl7b

Gene ontology

• Biological process: cytoskeleton organization
• Cellular component: cytoplasm;actin cytoskeleton
• Molecular function: structural constituent of cytoskeleton