ASB4

ankyrin repeat and SOCS box containing 4, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 7:95478444-95540233

Links

ENSG00000005981

∙ NCBI:51666 ∙ OMIM:605761 ∙ HGNC:16009 ∙ Uniprot:Q9Y574 ∙ 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 ASB4 gene.

not_specified (66 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016116.3. 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			66 clinvar			66
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB4	protein_coding	protein_coding	ENST00000325885	5	61789

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.12e-10	0.0933	125691	0	57	125748	0.000227

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.524	268	245	1.09	0.0000134	2810
Missense in Polyphen		83	74.941	1.1075		882
Synonymous	0.0945	101	102	0.988	0.00000661	815
Loss of Function	0.263	16	17.2	0.932	8.98e-7	202

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000420	0.000416
Ashkenazi Jewish	0.00	0.00
East Asian	0.000231	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000301	0.000255
Middle Eastern	0.000231	0.000217
South Asian	0.000435	0.000425
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism (By similarity). {ECO:0000250}.;
Pathway: Post-translational protein modification;Metabolism of proteins;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Neddylation (Consensus)

Recessive Scores

pRec: 0.0976

Intolerance Scores

loftool: 0.890
rvis_EVS: -0.58
rvis_percentile_EVS: 18.59

Haploinsufficiency Scores

pHI: 0.682
hipred: Y
hipred_score: 0.751
ghis: 0.491

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.784

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Asb4
Phenotype: reproductive system 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); embryo phenotype; renal/urinary system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: intracellular signal transduction;post-translational protein modification;protein autoubiquitination;positive regulation of vasculogenesis
Cellular component: cytosol;Cul2-RING ubiquitin ligase complex;Cul5-RING ubiquitin ligase complex
Molecular function: ubiquitin-protein transferase activity;ubiquitin protein ligase binding;ubiquitin protein ligase activity