ASB17

protein-coding

ankyrin repeat and SOCS box containing 17, the group of Ankyrin repeat domain containing

Gene summary

Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to act upstream of or within protein polyubiquitination. Predicted to be located in cytosol. Predicted to be active in apical ectoplasmic specialization. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_080868.3

Inheritance

ClinVar variants

U:35

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr1:75,918,873-75,932,404

External References & Databases

Ensembl (ENSG00000154007)

Transcript & Mutation Effects

hg38 • Region Span ~13.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

congenital heart defects, multiple typesLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0000119

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ASB17 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 34

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_080868.3. 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			1 clinvar			1
missense			34 clinvar			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	0	0	35

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_080868.3	RefSeq	NP_543144.1	3	MANE Select
ENST00000284142.7	Ensembl	ENSP00000284142.6	3	MANE Select
ENST00001092708.1	Ensembl	ENSP00000762514.1	3	Standard
ENST00001129777.1	Ensembl	ENSP00000799582.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein modification
Metabolism of proteins
Immune System
Adaptive Immune System
Antigen processing: Ubiquitination & Proteasome degradation

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: ENST00000284142
Coding exons: 3
Length: 13559
Individuals with no LoFs: 125606
Homozygous LoFs: 2
Heterozygous LoFs: 127
Defined: 125735
p: 0.000513

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.116	154	150	1.03	0.00000717	1914
Missense (PolyPhen)		19	18.83	1.009		222
Synonymous	0.132	54	55.3	0.977	0.00000271	581
Loss of Function	0.377	9	10.3	0.873	4.29e-7	156

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00021	0.00020	rare
East Asian	0.000054	0.000054	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00026	0.00025	rare
South Asian	0.0040	0.0029	notable
Other	0.00056	0.00049	rare

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: 0.0774

Intolerance Scores

LoFtool: 0.627
RVIS EVS: 0.15
RVIS percentile EVS: 64.32

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.157

Gene Damage Prediction

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