ASB3

ankyrin repeat and SOCS box containing 3, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 2:53532672-53860160

Links

ENSG00000115239 ∙ NCBI:51130 ∙ OMIM:605760 ∙ HGNC:16013 ∙ Uniprot:Q9Y575 ∙ 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 ASB3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB3 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			22			22
Total	0	0	25	0	0

Variants in ASB3

This is a list of pathogenic ClinVar variants found in the ASB3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-53693919-C-T		not specified	Uncertain significance (Jun 09, 2022)
2-53714438-T-C		not specified	Uncertain significance (Mar 21, 2023)
2-53714483-T-C		not specified	Uncertain significance (Jun 29, 2023)
2-53714544-A-G		not specified	Uncertain significance (Jun 16, 2024)
2-53765548-C-A		not specified	Uncertain significance (May 30, 2024)
2-53767892-G-C		not specified	Uncertain significance (May 11, 2022)
2-53767905-G-C		not specified	Uncertain significance (Jun 29, 2022)
2-53767924-T-C		not specified	Uncertain significance (Oct 30, 2023)
2-53767947-C-G		not specified	Uncertain significance (Sep 13, 2023)
2-53767963-C-T		not specified	Uncertain significance (Nov 20, 2023)
2-53767983-T-C		not specified	Uncertain significance (May 20, 2024)
2-53767990-G-A		not specified	Uncertain significance (Jan 30, 2024)
2-53767992-A-C		not specified	Uncertain significance (Dec 18, 2023)
2-53767993-G-C		not specified	Uncertain significance (Nov 20, 2023)
2-53767994-C-G		not specified	Uncertain significance (Feb 28, 2023)
2-53774160-G-A		not specified	Uncertain significance (Sep 28, 2022)
2-53774182-A-G		not specified	Uncertain significance (Oct 30, 2023)
2-53774193-G-A		not specified	Uncertain significance (Jun 01, 2023)
2-53774281-T-G		not specified	Uncertain significance (Nov 30, 2022)
2-53774317-C-G		not specified	Uncertain significance (Dec 26, 2023)
2-53774350-T-C		not specified	Uncertain significance (Jun 07, 2023)
2-53774359-A-G		not specified	Uncertain significance (Dec 14, 2021)
2-53774407-T-C		not specified	Uncertain significance (Jun 18, 2021)
2-53774416-C-G		not specified	Uncertain significance (Apr 13, 2022)
2-53774424-A-G		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB3	protein_coding	protein_coding	ENST00000352846	10	327361

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.44e-7	0.956	124480	0	49	124529	0.000197

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.291	314	300	1.05	0.0000158	3614
Missense in Polyphen		69	91.062	0.75772		1121
Synonymous	-1.59	134	113	1.19	0.00000623	1077
Loss of Function	1.95	15	25.7	0.584	0.00000120	326

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000480	0.000477
Ashkenazi Jewish	0.00	0.00
East Asian	0.000436	0.000435
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000172	0.000171
Middle Eastern	0.000436	0.000435
South Asian	0.0000980	0.0000980
Other	0.000655	0.000653

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. Recognizes TNFRSF1B. {ECO:0000269|PubMed:15899873}.
• 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: 0.107

Intolerance Scores

• loftool: 0.754
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.74

Haploinsufficiency Scores

• pHI: 0.142
• hipred: N
• hipred_score: 0.313
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.872

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb3

Gene ontology

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