ASB16

ankyrin repeat and SOCS box containing 16, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 17:44170447-44179084

Links

ENSG00000161664 ∙ NCBI:92591 ∙ OMIM:615056 ∙ HGNC:19768 ∙ Uniprot:Q96NS5 ∙ 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 ASB16 gene.

• not_specified (98 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB16 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080863.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5		5
missense			93	4		97
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB16	protein_coding	protein_coding	ENST00000293414	5	8637

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.10e-16	0.00275	125434	1	313	125748	0.00125

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.113	286	281	1.02	0.0000199	2784
Missense in Polyphen		67	64.342	1.0413		692
Synonymous	0.262	127	131	0.971	0.00000916	1020
Loss of Function	-0.518	23	20.5	1.12	0.00000137	171

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00234	0.00232
Ashkenazi Jewish	0.000998	0.000993
East Asian	0.00584	0.00583
Finnish	0.000518	0.000508
European (Non-Finnish)	0.000418	0.000413
Middle Eastern	0.00584	0.00583
South Asian	0.00281	0.00278
Other	0.000328	0.000326

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: 0.105

Intolerance Scores

• loftool: 0.620
• rvis_EVS: 1.58
• rvis_percentile_EVS: 95.77

Haploinsufficiency Scores

• pHI: 0.228
• hipred: N
• hipred_score: 0.239
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.107

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb16

Gene ontology

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