ASB15

ankyrin repeat and SOCS box containing 15, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 7:123567010-123639481

Links

ENSG00000146809 ∙ NCBI:142685 ∙ OMIM:619757 ∙ HGNC:19767 ∙ Uniprot:Q8WXK1 ∙ 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 ASB15 gene.

• not_specified (75 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001290258.2. 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				1		1
missense			72	3		75
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB15	protein_coding	protein_coding	ENST00000451558	9	70888

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.84e-15	0.0276	118344	117	7287	125748	0.0299

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.552	291	319	0.913	0.0000160	3826
Missense in Polyphen		69	77.72	0.8878		928
Synonymous	-0.103	126	125	1.01	0.00000673	1167
Loss of Function	0.407	24	26.3	0.914	0.00000143	312

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0598	0.0598
Ashkenazi Jewish	0.00840	0.00817
East Asian	0.0257	0.0256
Finnish	0.0370	0.0367
European (Non-Finnish)	0.0259	0.0258
Middle Eastern	0.0257	0.0256
South Asian	0.0370	0.0367
Other	0.0244	0.0242

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a 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. {ECO:0000250}.
• Pathway: Developmental Biology;Signal Transduction;Vesicle-mediated transport;role of pi3k subunit p85 in regulation of actin organization and cell migration;how does salmonella hijack a cell;Membrane Trafficking;y branching of actin filaments;Metabolism of nitric oxide;Post-translational protein modification;Metabolism of proteins;Fcgamma receptor (FCGR) dependent phagocytosis;EPH-Ephrin signaling;NOSTRIN mediated eNOS trafficking;eNOS activation and regulation;Innate Immune System;Immune System;Metabolism;EPHB-mediated forward signaling;RHO GTPases Activate WASPs and WAVEs;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;RHO GTPase Effectors;Signaling by Rho GTPases;Clathrin-mediated endocytosis;DCC mediated attractive signaling;EGFR1;ErbB1 downstream signaling;Neddylation;Regulation of actin dynamics for phagocytic cup formation;Netrin-1 signaling;Axon guidance;Nephrin family interactions;Cell-Cell communication;CDC42 signaling events;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Netrin-mediated signaling events;Signaling events mediated by focal adhesion kinase;EPHB forward signaling;PDGFR-beta signaling pathway;Nephrin/Neph1 signaling in the kidney podocyte (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.917
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.52

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.197
• ghis: 0.433

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.167

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb15

Gene ontology

• Biological process: protein ubiquitination;intracellular signal transduction;post-translational protein modification
• Cellular component: cytosol