ASB12
protein-codingankyrin repeat and SOCS box containing 12, the group of Ankyrin repeat domain containing
Gene summary
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~6.4 kbGenCC 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 ASB12 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_130388.4. 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 | 3 | 1 | 4 | |||
| missense | 62 | 3 | 65 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 65 | 4 | 1 | 70 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_569059.3 | 2 | MANE Select | |
| Ensembl | ENSP00000355195.2 | 2 | MANE Select | |
| Ensembl | ENSP00000771493.1 | 2 | Standard | |
| Ensembl | ENSP00000809032.1 | 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
- post-translational protein modification
Molecular Function
- protein binding
- ubiquitin protein ligase activity
Cellular Component
- ubiquitin ligase complex
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000362002
- Coding exons
- 2
- Length
- 6436
- Individuals with no LoFs
- 125649
- Homozygous LoFs
- 15
- Heterozygous LoFs
- 39
- Defined
- 125703
- p
- 0.000215
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.927 | 162 | 132 | 1.23 | 0.0000109 | 2039 |
| Missense (PolyPhen) | 85 | 70.641 | 1.2033 | 1189 | ||
| Synonymous | 0.584 | 46 | 51.3 | 0.896 | 0.00000387 | 670 |
| Loss of Function | 0.330 | 5 | 5.86 | 0.853 | 4.34e-7 | 112 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00024 | 0.00018 | rare |
| Latino/Admixed American | 0.00015 | 0.00012 | rare |
| Ashkenazi Jewish | 0.00028 | 0.00020 | rare |
| East Asian | 0.00037 | 0.00027 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00049 | 0.00031 | rare |
| South Asian | 0.00016 | 0.000098 | rare |
| Other | 0.00048 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- 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. {ECO:0000250, ECO:0000269|PubMed:16325183}.;
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- LoFtool
- 0.736
- RVIS EVS
- 0.49
- RVIS percentile EVS
- 79.38
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.520
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |