ASB12

ankyrin repeat and SOCS box containing 12, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): X:64224194-64230607

Links

ENSG00000198881 ∙ NCBI:142689 ∙ OMIM:300891 ∙ HGNC:19763 ∙ Uniprot:Q8WXK4 ∙ 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 ASB12 gene.

• not_specified (46 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000130388.4. 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				1		1
missense			45	3		48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB12	protein_coding	protein_coding	ENST00000362002	2	6436

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000698	0.530	125649	15	39	125703	0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.927	162	132	1.23	0.0000109	2039
Missense in Polyphen		85	70.641	1.2033		1189
Synonymous	0.584	46	51.3	0.896	0.00000387	670
Loss of Function	0.330	5	5.86	0.853	4.34e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000392	0.000339
Ashkenazi Jewish	0.000278	0.000198
East Asian	0.000371	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000486	0.000308
Middle Eastern	0.000371	0.000272
South Asian	0.000159	0.0000980
Other	0.000481	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable 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, 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: 0.106

Intolerance Scores

• loftool: 0.736
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.38

Haploinsufficiency Scores

• pHI: 0.182
• hipred: N
• hipred_score: 0.282
• ghis: 0.470

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.520

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb12

Gene ontology

• Biological process: protein ubiquitination;post-translational protein modification
• Cellular component: ubiquitin ligase complex;cytosol
• Molecular function: protein binding;ubiquitin protein ligase activity