ASB1

ankyrin repeat and SOCS box containing 1, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 2:238426741-238452250

Links

ENSG00000065802 ∙ NCBI:51665 ∙ OMIM:605758 ∙ HGNC:16011 ∙ Uniprot:Q9Y576 ∙ 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 ASB1 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB1 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in ASB1

This is a list of pathogenic ClinVar variants found in the ASB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-238427086-A-G		not specified	Uncertain significance (Jan 04, 2024)
2-238427096-G-A		not specified	Uncertain significance (Mar 07, 2023)
2-238427096-G-C		not specified	Uncertain significance (Oct 06, 2023)
2-238433599-C-T		not specified	Uncertain significance (Feb 16, 2023)
2-238433623-G-A		not specified	Uncertain significance (Dec 12, 2023)
2-238433692-G-A		not specified	Uncertain significance (Aug 14, 2023)
2-238435815-G-A		not specified	Uncertain significance (Nov 18, 2022)
2-238435949-C-T		not specified	Uncertain significance (Aug 02, 2022)
2-238444395-G-C		not specified	Likely benign (Oct 25, 2023)
2-238444455-A-G		not specified	Uncertain significance (Jan 16, 2024)
2-238444494-C-T		not specified	Uncertain significance (May 31, 2022)
2-238444580-C-T		not specified	Uncertain significance (Dec 15, 2022)
2-238444634-C-G		not specified	Uncertain significance (Nov 07, 2022)
2-238444695-C-T		not specified	Uncertain significance (Nov 21, 2023)
2-238446414-G-A		not specified	Uncertain significance (Nov 14, 2023)
2-238446447-G-A		not specified	Uncertain significance (Dec 03, 2021)
2-238446458-A-G		not specified	Uncertain significance (Mar 07, 2023)
2-238446465-C-T		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB1	protein_coding	protein_coding	ENST00000264607	5	25509

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00299	0.949	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	160	212	0.755	0.0000141	2148
Missense in Polyphen		76	111.46	0.68184		1052
Synonymous	-0.427	96	90.8	1.06	0.00000606	723
Loss of Function	1.72	6	12.6	0.476	6.85e-7	138

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000149
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.000163	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000705	0.0000703
Middle Eastern	0.000163	0.000109
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in testis development (By similarity). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. {ECO:0000250, ECO:0000269|PubMed:16325183}.
• 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: 0.110

Intolerance Scores

• loftool: 0.345
• rvis_EVS: -0.52
• rvis_percentile_EVS: 21.2

Haploinsufficiency Scores

• pHI: 0.241
• hipred: Y
• hipred_score: 0.757
• ghis: 0.674

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.838

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb1
• Phenotype: endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype; hematopoietic system phenotype; reproductive system phenotype

Gene ontology

• Biological process: protein ubiquitination;male genitalia development;intracellular signal transduction;negative regulation of cytokine biosynthetic process;post-translational protein modification
• Cellular component: ubiquitin ligase complex;cytosol
• Molecular function: protein binding;ubiquitin protein ligase activity