ASZ1

ankyrin repeat, SAM and basic leucine zipper domain containing 1, the group of Sterile alpha motif domain containing|Ankyrin repeat domain containing

Basic information

Region (hg38): 7:117363221-117428123

Previous symbols: [ "C7orf7", "ANKL1" ]

Links

ENSG00000154438 ∙ NCBI:136991 ∙ OMIM:605797 ∙ HGNC:1350 ∙ Uniprot:Q8WWH4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ASZ1 gene.

• Inborn genetic diseases (22 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASZ1 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			21			21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	21	0	1

Variants in ASZ1

This is a list of pathogenic ClinVar variants found in the ASZ1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-117363736-G-A		not specified	Uncertain significance (May 25, 2022)
7-117363748-A-G		not specified	Likely benign (Feb 27, 2024)
7-117368625-A-C		not specified	Uncertain significance (Aug 10, 2021)
7-117368682-T-C		not specified	Uncertain significance (Nov 30, 2021)
7-117368717-A-G		not specified	Likely benign (Jul 12, 2023)
7-117379945-C-T		not specified	Uncertain significance (Mar 22, 2022)
7-117381034-T-C		not specified	Uncertain significance (May 01, 2022)
7-117382088-T-C		not specified	Uncertain significance (Dec 27, 2023)
7-117383044-C-T		not specified	Uncertain significance (Jun 06, 2023)
7-117383071-C-G		not specified	Uncertain significance (Jan 03, 2022)
7-117384751-A-G		not specified	Uncertain significance (Jun 10, 2022)
7-117385790-T-C		Male infertility with azoospermia or oligozoospermia due to single gene mutation • not specified	Conflicting classifications of pathogenicity (Sep 01, 2023)
7-117385793-T-C		not specified	Uncertain significance (May 24, 2023)
7-117385796-G-C		not specified	Uncertain significance (Oct 25, 2023)
7-117420193-G-A		not specified	Uncertain significance (May 30, 2023)
7-117422264-T-C		not specified	Uncertain significance (Nov 15, 2021)
7-117422279-G-A		not specified	Uncertain significance (Aug 30, 2021)
7-117422293-T-C		not specified	Uncertain significance (Nov 09, 2021)
7-117422299-A-G		not specified	Uncertain significance (Jan 26, 2023)
7-117426852-C-G		not specified	Uncertain significance (Jul 13, 2022)
7-117426881-T-C		not specified	Uncertain significance (Dec 13, 2023)
7-117426924-C-T			Benign (Jul 15, 2018)
7-117427397-C-A		not specified	Uncertain significance (Mar 03, 2022)
7-117427397-C-G		not specified	Uncertain significance (Dec 28, 2022)
7-117427406-C-G		not specified	Uncertain significance (Aug 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASZ1	protein_coding	protein_coding	ENST00000284629	13	64902

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.67e-9	0.878	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.163	233	240	0.970	0.0000120	3115
Missense in Polyphen		57	62.115	0.91765		780
Synonymous	1.25	75	90.1	0.832	0.00000508	871
Loss of Function	1.71	17	26.5	0.641	0.00000127	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000600	0.000554
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000623	0.0000544
Finnish	0.000144	0.000139
European (Non-Finnish)	0.000217	0.000211
Middle Eastern	0.0000623	0.0000544
South Asian	0.000226	0.000196
Other	0.000512	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi- bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the production of multiple types of piRNAs, including those associated with repeats involved in the regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity). {ECO:0000250}.
• Pathway: Gene expression (Transcription);PIWI-interacting RNA (piRNA) biogenesis;Gene Silencing by RNA (Consensus)

Recessive Scores

• pRec: 0.170

Intolerance Scores

• loftool: 0.647
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.56

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.199
• ghis: 0.411

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.186

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asz1
• Phenotype: cellular phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype

Gene ontology

• Biological process: male meiotic nuclear division;multicellular organism development;spermatogenesis;cell differentiation;gene silencing by RNA;piRNA metabolic process;DNA methylation involved in gamete generation
• Cellular component: cytoplasm;pi-body