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.

not_specified (72 variants)

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. These statistics are base on transcript: NM_000139166.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			69 clinvar	3 clinvar		72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	3	0

Loading clinvar variants...

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