ASTE1

asteroid homolog 1

Basic information

Region (hg38): 3:131013875-131027649

Links

ENSG00000034533 ∙ NCBI:28990 ∙ ∙ HGNC:25021 ∙ Uniprot:Q2TB18 ∙ 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 ASTE1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASTE1 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			1			1
missense			43	6		49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	44	6	1

Variants in ASTE1

This is a list of pathogenic ClinVar variants found in the ASTE1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-131014067-T-C		not specified	Uncertain significance (Jan 22, 2025)
3-131014118-C-T		not specified	Uncertain significance (Oct 04, 2024)
3-131014148-T-C		not specified	Uncertain significance (Jun 23, 2021)
3-131014155-T-C		not specified	Uncertain significance (Nov 11, 2024)
3-131014227-C-T		not specified	Uncertain significance (Nov 25, 2024)
3-131014241-A-G		not specified	Uncertain significance (May 18, 2023)
3-131014259-G-A		not specified	Uncertain significance (Aug 01, 2024)
3-131014281-A-G		not specified	Likely benign (Jan 16, 2024)
3-131014290-G-A		not specified	Uncertain significance (Sep 02, 2024)
3-131016043-G-GT			Benign (May 11, 2021)
3-131016145-G-A		ASTE1-related disorder	Likely benign (Dec 18, 2019)
3-131016173-G-A		Inborn genetic diseases	Uncertain significance (Aug 20, 2024)
3-131016246-A-G		not specified	Uncertain significance (May 26, 2022)
3-131016264-A-G		not specified	Likely benign (Sep 05, 2024)
3-131016267-C-T		not specified	Uncertain significance (Aug 17, 2022)
3-131016276-G-A		not specified	Likely benign (Jun 29, 2023)
3-131016313-C-T		not specified	Uncertain significance (Dec 06, 2021)
3-131016315-C-T		not specified	Uncertain significance (Nov 10, 2024)
3-131018590-C-G		not specified	Uncertain significance (Aug 11, 2024)
3-131018659-T-G		not specified	Uncertain significance (Jan 16, 2025)
3-131018706-C-T		not specified	Uncertain significance (Aug 04, 2023)
3-131024046-C-T		not specified	Uncertain significance (May 29, 2024)
3-131024197-C-G		not specified	Uncertain significance (Jan 09, 2025)
3-131024284-G-T		not specified	Uncertain significance (Sep 02, 2024)
3-131024291-G-C		not specified	Uncertain significance (Jun 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASTE1	protein_coding	protein_coding	ENST00000264992	4	13775

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.21e-10	0.442	125658	0	90	125748	0.000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.863	316	362	0.872	0.0000185	4449
Missense in Polyphen		100	125.3	0.79807		1559
Synonymous	-0.0471	140	139	1.01	0.00000674	1332
Loss of Function	1.06	17	22.4	0.759	0.00000125	262

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000673	0.000673
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000218	0.000217
Finnish	0.000244	0.000231
European (Non-Finnish)	0.000448	0.000440
Middle Eastern	0.000218	0.000217
South Asian	0.000268	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible role in EGF receptor signaling. {ECO:0000250}.

Recessive Scores

• pRec: 0.0834

Intolerance Scores

• loftool: 0.289
• rvis_EVS: 0.0000761
• rvis_percentile_EVS: 53.98

Haploinsufficiency Scores

• pHI: 0.135
• hipred: N
• hipred_score: 0.170
• ghis: 0.549

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.666

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aste1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: DNA repair;nucleic acid phosphodiester bond hydrolysis
• Molecular function: nuclease activity;protein binding