ASB15

protein-coding

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

Gene summary

This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

MANE transcript

NM_001290258.2

Inheritance

—

ClinVar variants

U:84B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr7:123,567,010-123,639,481

External References & Databases

Ensembl (ENSG00000146809)

Transcript & Mutation Effects

hg38 • Region Span ~72.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ASB15 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 84

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001290258.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	1 clinvar		3
missense			81 clinvar	3 clinvar		84
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	4	0	88

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 130 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001290258.2	RefSeq	NP_001277187.1	9	MANE Select
ENST00000451215.6	Ensembl	ENSP00000416433.1	9	MANE Select
NM_080928.4	RefSeq	NP_563616.3	9	Standard
ENST00000275699.4	Ensembl	ENSP00000275699.3	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

protein ubiquitination
intracellular signal transduction
post-translational protein modification

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000451558
Coding exons: 9
Length: 70888
Individuals with no LoFs: 118344
Homozygous LoFs: 117
Heterozygous LoFs: 7287
Defined: 125748
p: 0.0299

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.552	291	319	0.913	0.0000160	3826
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0046	0.0046	notable
Latino/Admixed American	0.055	0.055	notable
Ashkenazi Jewish	0.0084	0.0082	notable
East Asian	0.026	0.026	notable
Finnish	0.037	0.037	notable
European (Non-Finnish)	0.026	0.026	notable
South Asian	0.037	0.037	notable
Other	0.024	0.024	notable

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.917
RVIS EVS: 0.49
RVIS percentile EVS: 79.52

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.167

Gene Damage Prediction

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