ASB10

ankyrin repeat and SOCS box containing 10, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 7:151175698-151187832

Previous symbols: [ "GLC1F" ]

Links

ENSG00000146926 ∙ NCBI:136371 ∙ OMIM:615054 ∙ HGNC:17185 ∙ Uniprot:Q8WXI3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• glaucoma 1, open angle, F (Limited), mode of inheritance: Unknown
• glaucoma 1, open angle, F (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Glaucoma 1, open angle, F	AD	Ophthalmologic	Open-angle glaucoma is typically asymptomatic until late stages, when irreversible nerve damage has already taken place; Agents that may contribute to glaucoma should be avoided	Ophthalmologic	22156576

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ASB10 gene.

• not_specified (85 variants)
• not_provided (61 variants)
• Glaucoma_1,_open_angle,_F (43 variants)
• ASB10-related_disorder (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001142459.2. 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			6	9	6	21
missense			103	17	8	128
nonsense			1	1		2
start loss						0
frameshift			2			2
splice donor/acceptor (+/-2bp)						0
Total	0	0	112	27	14

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB10	protein_coding	protein_coding	ENST00000420175	5	12135

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.64e-12	0.0204	125530	1	125	125656	0.000501

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.319	321	305	1.05	0.0000207	2920
Missense in Polyphen		82	77.583	1.0569		815
Synonymous	-0.215	138	135	1.02	0.00000895	1070
Loss of Function	-0.320	17	15.6	1.09	9.15e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00128	0.00122
Ashkenazi Jewish	0.00	0.00
East Asian	0.00341	0.00332
Finnish	0.000731	0.000647
European (Non-Finnish)	0.000197	0.000185
Middle Eastern	0.00341	0.00332
South Asian	0.000169	0.000163
Other	0.000499	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}.
• Disease: DISEASE: Glaucoma 1, open angle, F (GLC1F) [MIM:603383]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:22156576}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• 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: 0.0970

Intolerance Scores

• loftool: 0.786
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.46

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.170
• ghis: 0.530

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0449

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asb10
• Phenotype: hematopoietic system phenotype

Gene ontology

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