ASB11

ankyrin repeat and SOCS box containing 11, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): X:15281697-15315640

Links

ENSG00000165192 ∙ NCBI:140456 ∙ OMIM:300626 ∙ HGNC:17186 ∙ Uniprot:Q8WXH4 ∙ 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 ASB11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB11 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			1	1		2
missense			23	2	2	27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	24	3	2

Variants in ASB11

This is a list of pathogenic ClinVar variants found in the ASB11 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-15283512-T-C		not specified	Uncertain significance (Mar 01, 2023)
X-15283519-G-A		not specified	Uncertain significance (Jan 02, 2025)
X-15283591-G-A		not specified	Uncertain significance (Aug 26, 2024)
X-15283602-C-A		not specified	Uncertain significance (Jun 26, 2024)
X-15283603-G-A		not specified	Uncertain significance (Aug 12, 2021)
X-15283606-A-G		not specified	Uncertain significance (Aug 11, 2020)
X-15283609-G-A		not specified	Uncertain significance (Sep 04, 2024)
X-15287875-G-T			Likely benign (Aug 01, 2022)
X-15287887-G-A		not specified	Uncertain significance (Jan 24, 2023)
X-15287908-C-T		not specified	Uncertain significance (Feb 05, 2024)
X-15287925-G-A		not specified	Uncertain significance (Oct 04, 2022)
X-15287952-G-C		not specified	Uncertain significance (Mar 07, 2025)
X-15287961-C-A		not specified	Likely benign (Dec 28, 2023)
X-15287961-C-T		not specified	Uncertain significance (Jul 16, 2024)
X-15287983-C-T			Benign (Apr 16, 2018)
X-15288040-T-A		not specified	Uncertain significance (Dec 06, 2022)
X-15288044-C-T			Likely benign (May 01, 2022)
X-15289537-T-A			Benign (Oct 05, 2017)
X-15289570-C-T		not specified	Uncertain significance (Aug 12, 2022)
X-15289630-C-T		not specified	Uncertain significance (Dec 22, 2024)
X-15293196-G-A			Likely benign (Jan 01, 2023)
X-15293202-A-G		not specified	Uncertain significance (Apr 09, 2024)
X-15293230-C-T		not specified	Uncertain significance (Dec 14, 2021)
X-15293247-T-A		not specified	Uncertain significance (Feb 27, 2025)
X-15293257-C-T		not specified	Uncertain significance (Aug 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB11	protein_coding	protein_coding	ENST00000480796	7	35726

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000196	0.274	125707	17	19	125743	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00222	127	127	1.00	0.0000102	2074
Missense in Polyphen		55	54.111	1.0164		915
Synonymous	-0.733	62	55.1	1.13	0.00000471	669
Loss of Function	0.167	9	9.56	0.942	7.35e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000305	0.000305
Ashkenazi Jewish	0.00	0.00
East Asian	0.000145	0.000109
Finnish	0.0000644	0.0000462
European (Non-Finnish)	0.000208	0.000141
Middle Eastern	0.000145	0.000109
South Asian	0.000646	0.000294
Other	0.00	0.00

dbNSFP

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}.
• 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: 0.103

Intolerance Scores

• loftool: 0.868
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.61

Haploinsufficiency Scores

• pHI: 0.173
• hipred: N
• hipred_score: 0.400
• ghis: 0.497

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb11

Zebrafish Information Network

• Gene name: asb11
• Affected structure: pericardium
• Phenotype tag: abnormal
• Phenotype quality: hypertrophic

Gene ontology

• Biological process: protein ubiquitination;intracellular signal transduction;post-translational protein modification;positive regulation of protein catabolic process
• Cellular component: endoplasmic reticulum;cytosol