ASB14

ankyrin repeat and SOCS box containing 14, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 3:57268341-57292685

Links

ENSG00000239388 ∙ NCBI:142686 ∙ ∙ HGNC:19766 ∙ Uniprot:A6NK59 ∙ 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 ASB14 gene.

• Inborn genetic diseases (35 variants)
• not provided (14 variants)
• not specified (2 variants)
• Maturity-onset diabetes of the young type 14 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB14 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			30	3		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			7	3	3	13
Total	0	0	37	6	3

Variants in ASB14

This is a list of pathogenic ClinVar variants found in the ASB14 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-57268402-G-A			Uncertain significance (Apr 03, 2023)
3-57268402-G-T			Uncertain significance (Aug 01, 2023)
3-57268420-A-G			Uncertain significance (Dec 02, 2022)
3-57268429-TAGAG-T		not specified	Conflicting classifications of pathogenicity (Feb 27, 2023)
3-57268430-A-G		Maturity-onset diabetes of the young type 14	Likely benign (Apr 17, 2022)
3-57268437-G-C		not specified	Uncertain significance (Aug 12, 2022)
3-57268465-A-G			Conflicting classifications of pathogenicity (Jan 02, 2024)
3-57268492-A-G		APPL1-related disorder	Likely benign (May 25, 2022)
3-57268494-A-G			Likely benign (Jul 19, 2022)
3-57269450-A-AGAATT			Benign (Aug 30, 2018)
3-57269520-C-CT			Benign (Oct 17, 2023)
3-57269575-C-G		not specified	Uncertain significance (Jan 22, 2024)
3-57269603-G-A			Likely benign (May 31, 2022)
3-57269629-G-A		not specified	Uncertain significance (Jun 24, 2022)
3-57269656-A-G			Benign (Jan 29, 2024)
3-57269668-A-G			Uncertain significance (Jul 21, 2022)
3-57269684-A-G			Uncertain significance (Dec 30, 2021)
3-57276572-C-T		not specified	Uncertain significance (Mar 01, 2023)
3-57276588-C-T		not specified	Uncertain significance (Mar 02, 2023)
3-57276621-G-A		not specified	Uncertain significance (Nov 15, 2021)
3-57276621-G-T		not specified	Uncertain significance (Jul 14, 2021)
3-57276659-C-T		not specified	Uncertain significance (Jan 10, 2022)
3-57276660-G-A		not specified	Uncertain significance (Apr 13, 2023)
3-57276679-G-C		not specified	Uncertain significance (Apr 18, 2023)
3-57276724-G-T		not specified	Uncertain significance (Nov 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB14	protein_coding	protein_coding	ENST00000487349	9	24336

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.12e-22	0.0000800	125681	0	65	125746	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.422	296	317	0.933	0.0000163	3838
Missense in Polyphen		113	122.6	0.92169		1532
Synonymous	0.554	111	119	0.935	0.00000623	1157
Loss of Function	-1.15	30	23.9	1.25	0.00000116	317

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00127	0.00127
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000716	0.000707
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.000716	0.000707
South Asian	0.000163	0.000163
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)

Intolerance Scores

• loftool: 0.917
• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.02

Haploinsufficiency Scores

• pHI: 0.222
• hipred: N
• hipred_score: 0.167
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0565

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb14

Gene ontology

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