ABRA

actin binding Rho activating protein

Basic information

Region (hg38): 8:106759483-106770244

Links

ENSG00000174429 ∙ NCBI:137735 ∙ OMIM:609747 ∙ HGNC:30655 ∙ Uniprot:Q8N0Z2 ∙ 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 ABRA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABRA 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			49	2		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	49	2	0

Variants in ABRA

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

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

Position	Type	Phenotype	Significance	ClinVar
8-106761050-G-A		not specified	Uncertain significance (Jun 09, 2022)
8-106761052-A-C		not specified	Uncertain significance (Jan 26, 2022)
8-106761072-G-C		not specified	Uncertain significance (Jul 26, 2022)
8-106761075-C-T		not specified	Uncertain significance (Feb 24, 2025)
8-106761120-T-C		not specified	Uncertain significance (Apr 13, 2022)
8-106761138-C-T		not specified	Uncertain significance (May 25, 2022)
8-106761158-C-T		not specified	Uncertain significance (Sep 16, 2021)
8-106761159-G-A		not specified	Uncertain significance (Nov 17, 2022)
8-106761162-C-T		not specified	Uncertain significance (Mar 01, 2023)
8-106761176-A-C		not specified	Uncertain significance (Jan 15, 2025)
8-106761184-A-C		not specified	Uncertain significance (Jul 12, 2022)
8-106761224-A-G		not specified	Uncertain significance (Dec 06, 2022)
8-106761246-T-C		not specified	Uncertain significance (Dec 17, 2023)
8-106761260-C-G		not specified	Uncertain significance (Sep 25, 2023)
8-106761282-G-A		not specified	Uncertain significance (Jul 14, 2021)
8-106761359-A-G		not specified	Uncertain significance (Jan 17, 2023)
8-106761386-C-A		not specified	Uncertain significance (Dec 06, 2024)
8-106761389-A-G		not specified	Uncertain significance (Feb 18, 2025)
8-106761408-A-G		not specified	Uncertain significance (Jan 08, 2025)
8-106761491-A-G		not specified	Uncertain significance (Oct 29, 2024)
8-106761500-G-A		not specified	Uncertain significance (Dec 25, 2024)
8-106769530-G-T		not specified	Uncertain significance (Apr 12, 2024)
8-106769538-C-T		not specified	Uncertain significance (Nov 02, 2023)
8-106769539-G-A		not specified	Uncertain significance (Dec 14, 2022)
8-106769571-T-C		not specified	Uncertain significance (Aug 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABRA	protein_coding	protein_coding	ENST00000311955	2	10763

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000615	0.710	125694	0	53	125747	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.152	233	227	1.03	0.0000135	2503
Missense in Polyphen		82	73.926	1.1092		850
Synonymous	-1.41	100	83.6	1.20	0.00000526	738
Loss of Function	1.09	10	14.5	0.691	8.11e-7	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000499	0.000499
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.000462	0.000462
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.000381	0.000381
South Asian	0.000108	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as an activator of serum response factor (SRF)- dependent transcription possibly by inducing nuclear translocation of MKL1 or MKL2 and through a mechanism requiring Rho-actin signaling. {ECO:0000250|UniProtKB:Q8BUZ1}.

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.162
• rvis_EVS: -0.2
• rvis_percentile_EVS: 38.98

Haploinsufficiency Scores

• pHI: 0.131
• hipred: N
• hipred_score: 0.216
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0118

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abra
• Phenotype: homeostasis/metabolism phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: abraa
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: increased curvature

Gene ontology

• Biological process: obsolete protein import into nucleus, translocation;positive regulation of Rho protein signal transduction;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;positive regulation of DNA-binding transcription factor activity
• Cellular component: plasma membrane;actin cytoskeleton;sarcomere
• Molecular function: actin binding