DAZAP2

DAZ associated protein 2

Basic information

Region (hg38): 12:51238724-51271362

Links

ENSG00000183283 ∙ NCBI:9802 ∙ OMIM:607431 ∙ HGNC:2684 ∙ Uniprot:Q15038 ∙ 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 DAZAP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAZAP2 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			8	2		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	10	2	0

Variants in DAZAP2

This is a list of pathogenic ClinVar variants found in the DAZAP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-51240385-G-A		not specified	Uncertain significance (Nov 23, 2021)
12-51240394-T-C		not specified	Uncertain significance (Oct 26, 2022)
12-51240875-A-G		not specified	Uncertain significance (Jul 20, 2022)
12-51240877-C-G		not specified	Uncertain significance (Apr 29, 2024)
12-51240884-G-C		not specified	Uncertain significance (Jan 26, 2022)
12-51240890-T-A		not specified	Uncertain significance (Feb 16, 2023)
12-51240938-G-A		not specified	Uncertain significance (Dec 20, 2023)
12-51240997-A-G		not specified	Uncertain significance (May 13, 2024)
12-51242334-C-T		not specified	Likely benign (Jun 10, 2024)
12-51242348-C-T		not specified	Uncertain significance (Feb 07, 2023)
12-51242349-C-T		not specified	Likely benign (Jan 02, 2024)
12-51242388-A-G		not specified	Likely benign (Jan 22, 2024)
12-51242396-G-A		not specified	Uncertain significance (Nov 20, 2024)
12-51242396-G-C		not specified	Uncertain significance (Jul 12, 2023)
12-51242509-T-G		not specified	Uncertain significance (Aug 11, 2022)
12-51242516-A-G		not specified	Uncertain significance (Sep 27, 2024)
12-51242576-G-A		not specified	Uncertain significance (Oct 25, 2023)
12-51245976-C-A		not specified	Uncertain significance (Dec 20, 2023)
12-51245986-C-G		not specified	Uncertain significance (Dec 21, 2022)
12-51246017-T-G		not specified	Uncertain significance (Jul 11, 2023)
12-51246086-G-A		not specified	Uncertain significance (May 13, 2024)
12-51246760-G-C		not specified	Uncertain significance (Jul 06, 2021)
12-51269253-G-A		not specified	Uncertain significance (Aug 13, 2021)
12-51269266-G-C		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAZAP2	protein_coding	protein_coding	ENST00000549555	4	33071

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.364	0.626	125738	0	7	125745	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.985	88	118	0.745	0.00000607	1337
Missense in Polyphen		22	39.036	0.56359		441
Synonymous	-0.473	47	43.1	1.09	0.00000233	415
Loss of Function	2.15	2	8.92	0.224	3.79e-7	105

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000193	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Exercise-induced Circadian Regulation (Consensus)

Recessive Scores

• pRec: 0.0712

Intolerance Scores

• loftool: 0.594
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.173
• hipred: N
• hipred_score: 0.212
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dazap2
• Phenotype: normal phenotype

Gene ontology

• Biological process: positive regulation of protein serine/threonine kinase activity
• Cellular component: cytoplasm;nuclear speck;protein-containing complex
• Molecular function: protein binding;receptor tyrosine kinase binding;mitogen-activated protein kinase kinase kinase binding;identical protein binding;protein serine/threonine kinase activator activity;WW domain binding