ACTR1B

actin related protein 1B, the group of Actin related proteins

Basic information

Region (hg38): 2:97655939-97664044

Previous symbols: [ "CTRN2" ]

Links

ENSG00000115073 ∙ NCBI:10120 ∙ OMIM:605144 ∙ HGNC:168 ∙ Uniprot:P42025 ∙ 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 ACTR1B gene.

• not_specified (43 variants)
• not_provided (2 variants)
• Duane_retraction_syndrome (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTR1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005735.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			43			43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTR1B	protein_coding	protein_coding	ENST00000289228	11	8140

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00107	0.997	125690	0	58	125748	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.04	201	247	0.813	0.0000174	2416
Missense in Polyphen		77	108.68	0.70852		1002
Synonymous	-0.00232	103	103	1.00	0.00000762	763
Loss of Function	2.70	9	23.0	0.392	0.00000142	231

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000433	0.000420
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.000555	0.000554
European (Non-Finnish)	0.000264	0.000264
Middle Eastern	0.000163	0.000163
South Asian	0.0000697	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.530

Intolerance Scores

• loftool: 0.311
• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.16

Haploinsufficiency Scores

• pHI: 0.307
• hipred: Y
• hipred_score: 0.589
• ghis: 0.577

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.318

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Actr1b

Gene ontology

• Biological process: antigen processing and presentation of exogenous peptide antigen via MHC class II;neutrophil degranulation
• Cellular component: extracellular region;cytoplasm;centrosome;cytosol;dynactin complex;microtubule cytoskeleton;membrane;secretory granule lumen;extracellular exosome;ficolin-1-rich granule lumen
• Molecular function: protein binding;ATP binding