ASB9

ankyrin repeat and SOCS box containing 9, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): X:15235288-15270467

Links

ENSG00000102048 ∙ NCBI:140462 ∙ OMIM:300890 ∙ HGNC:17184 ∙ Uniprot:Q96DX5 ∙ 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 ASB9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB9 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			9	1		10
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in ASB9

This is a list of pathogenic ClinVar variants found in the ASB9 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-15244547-C-T		not specified	Uncertain significance (Nov 29, 2021)
X-15248765-G-T		not specified	Uncertain significance (Mar 11, 2022)
X-15248902-G-A		not specified	Uncertain significance (Jul 05, 2022)
X-15250456-G-A			Likely benign (-)
X-15250465-T-C		not specified	Uncertain significance (Nov 29, 2023)
X-15250502-G-A		not specified	Uncertain significance (Jul 25, 2023)
X-15250519-A-G		not specified	Uncertain significance (Jan 02, 2024)
X-15250548-GAC-G			Uncertain significance (Jul 01, 2022)
X-15252260-T-C			Likely benign (Dec 01, 2022)
X-15252292-C-G		not specified	Uncertain significance (Jun 24, 2022)
X-15269853-T-G		not specified	Uncertain significance (Jan 16, 2024)
X-15269859-C-T		not specified	Uncertain significance (Jan 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB9	protein_coding	protein_coding	ENST00000380488	7	35180

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.696	0.300	125693	1	1	125695	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.985	84	114	0.740	0.00000848	1935
Missense in Polyphen		22	42.249	0.52072		731
Synonymous	-0.292	47	44.5	1.06	0.00000367	575
Loss of Function	2.33	1	8.21	0.122	5.20e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000263	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: 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. Recognizes at least two forms of creatine kinase, CKB and CKMT1A. {ECO:0000269|PubMed:22418839}.
• 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: 0.0783

Intolerance Scores

• loftool: 0.178
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

• pHI: 0.0158
• hipred: Y
• hipred_score: 0.679
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.593

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb9

Gene ontology

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