DAZL

deleted in azoospermia like, the group of RNA binding motif containing|DAZ RNA binding protein family

Basic information

Region (hg38): 3:16586792-16670306

Previous symbols: [ "DAZLA" ]

Links

ENSG00000092345 ∙ NCBI:1618 ∙ OMIM:601486 ∙ HGNC:2685 ∙ Uniprot:Q92904 ∙ 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 DAZL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAZL 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in DAZL

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

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

Position	Type	Phenotype	Significance	ClinVar
3-16592062-A-T		not specified	Uncertain significance (Jan 04, 2024)
3-16592135-C-T		not specified	Uncertain significance (Dec 19, 2022)
3-16592157-C-T		DAZL-related disorder	Benign (Oct 17, 2019)
3-16593665-C-T		not specified	Uncertain significance (Mar 07, 2023)
3-16593692-T-C		not specified	Uncertain significance (Jun 05, 2023)
3-16593728-G-A		not specified	Uncertain significance (May 03, 2023)
3-16593747-G-T		not specified	Uncertain significance (Aug 02, 2023)
3-16594552-C-T		not specified	Uncertain significance (Jun 11, 2024)
3-16594577-G-A		not specified	Uncertain significance (Feb 23, 2023)
3-16594583-T-A		not specified	Uncertain significance (Jun 16, 2023)
3-16594586-T-TA		DAZL-related disorder	Benign (Oct 31, 2019)
3-16595332-C-T		DAZL-related disorder	Likely benign (Jul 23, 2019)
3-16595336-T-C		not specified	Uncertain significance (Aug 14, 2023)
3-16595352-C-A		not specified	Uncertain significance (Jun 09, 2022)
3-16596754-A-G		not specified	Uncertain significance (Aug 08, 2023)
3-16596782-T-C		not specified	Uncertain significance (Jan 01, 2025)
3-16596813-A-C		not specified	Uncertain significance (Aug 16, 2022)
3-16596843-A-G		DAZL-related disorder	Benign (Mar 11, 2019)
3-16596850-T-C		not specified	Uncertain significance (Nov 09, 2023)
3-16596853-T-C		not specified	Uncertain significance (Jul 26, 2021)
3-16597042-T-G		not specified	Uncertain significance (Jun 24, 2022)
3-16598098-A-C		Idiopathic male infertility	association (Mar 01, 2022)
3-16598098-A-T		Idiopathic male infertility	association (Mar 01, 2022)
3-16598108-T-TC		Idiopathic male infertility	Pathogenic (Mar 01, 2022)
3-16598118-T-A		not specified	Uncertain significance (Oct 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAZL	protein_coding	protein_coding	ENST00000250863	11	83515

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.994	0.00551	125157	0	3	125160	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.436	149	165	0.904	0.00000811	2035
Missense in Polyphen		23	40.942	0.56177		507
Synonymous	-0.635	63	56.9	1.11	0.00000310	605
Loss of Function	3.92	1	19.9	0.0504	9.90e-7	239

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.00000917	0.00000882
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts (By similarity). {ECO:0000250}.
• Pathway: Ovarian Infertility Genes (Consensus)

Recessive Scores

• pRec: 0.159

Intolerance Scores

• loftool: 0.176
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• pHI: 0.358
• hipred: Y
• hipred_score: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.563

Gene Damage Prediction

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

Mouse Genome Informatics

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

Gene ontology

• Biological process: oocyte maturation;female meiosis II;multicellular organism development;germ cell development;spermatogenesis;positive regulation of meiotic nuclear division;positive regulation of translational initiation;3'-UTR-mediated mRNA stabilization
• Cellular component: nucleus;cytoplasm;polysome;protein-containing complex
• Molecular function: RNA binding;mRNA 3'-UTR binding;protein binding;translation activator activity;identical protein binding