ASB17

ankyrin repeat and SOCS box containing 17, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 1:75918872-75932404

Links

ENSG00000154007 ∙ NCBI:127247 ∙ OMIM:619936 ∙ HGNC:19769 ∙ Uniprot:Q8WXJ9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital heart defects, multiple types (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ASB17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB17 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in ASB17

This is a list of pathogenic ClinVar variants found in the ASB17 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-75919031-G-C		not specified	Uncertain significance (Jan 19, 2022)
1-75919052-G-A		not specified	Uncertain significance (Jan 26, 2022)
1-75919061-C-G		not specified	Uncertain significance (May 24, 2024)
1-75919077-C-T		not specified	Uncertain significance (Mar 06, 2023)
1-75922129-A-G		not specified	Uncertain significance (Jun 05, 2023)
1-75922153-A-G		not specified	Uncertain significance (Aug 10, 2023)
1-75922170-A-T		not specified	Uncertain significance (Apr 20, 2023)
1-75922348-G-A		not specified	Uncertain significance (Jan 26, 2022)
1-75931990-A-T		not specified	Uncertain significance (Apr 25, 2023)
1-75932113-A-G		not specified	Uncertain significance (Oct 13, 2023)
1-75932117-C-T		not specified	Uncertain significance (Jun 07, 2024)
1-75932153-T-A		not specified	Uncertain significance (Jul 26, 2022)
1-75932165-A-G		not specified	Uncertain significance (Sep 06, 2022)
1-75932167-C-T		not specified	Uncertain significance (May 08, 2023)
1-75932260-G-A		not specified	Uncertain significance (Apr 01, 2024)
1-75932263-T-G		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB17	protein_coding	protein_coding	ENST00000284142	3	13559

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000341	0.360	125606	2	127	125735	0.000513

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.116	154	150	1.03	0.00000717	1914
Missense in Polyphen		19	18.83	1.009		222
Synonymous	0.132	54	55.3	0.977	0.00000271	581
Loss of Function	0.377	9	10.3	0.873	4.29e-7	156

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.000209	0.000198
East Asian	0.0000544	0.0000544
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000256	0.000255
Middle Eastern	0.0000544	0.0000544
South Asian	0.00397	0.00291
Other	0.000558	0.000489

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: 0.0774

Intolerance Scores

• loftool: 0.627
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.32

Haploinsufficiency Scores

• pHI: 0.199
• hipred: N
• hipred_score: 0.231

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.157

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb17

Gene ontology

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