DZANK1

double zinc ribbon and ankyrin repeat domains 1, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 20:18383366-18467281

Previous symbols: [ "C20orf84", "C20orf12" ]

Links

ENSG00000089091 ∙ NCBI:55184 ∙ ∙ HGNC:15858 ∙ Uniprot:Q9NVP4 ∙ 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 DZANK1 gene.

• Inborn genetic diseases (29 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DZANK1 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			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	0	0

Variants in DZANK1

This is a list of pathogenic ClinVar variants found in the DZANK1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-18384491-C-A		not specified	Uncertain significance (Jan 09, 2023)
20-18384509-C-A		not specified	Uncertain significance (Feb 06, 2023)
20-18385055-A-G		not specified	Uncertain significance (Nov 18, 2022)
20-18389734-T-C		not specified	Uncertain significance (Mar 28, 2022)
20-18389752-G-A		not specified	Uncertain significance (Jul 27, 2022)
20-18390438-T-C		not specified	Uncertain significance (Feb 13, 2023)
20-18393763-C-T		not specified	Uncertain significance (Aug 02, 2022)
20-18393809-T-C		not specified	Uncertain significance (Aug 13, 2021)
20-18394317-C-T		not specified	Uncertain significance (Nov 09, 2023)
20-18396503-A-T		not specified	Uncertain significance (Nov 13, 2023)
20-18398555-G-A		not specified	Uncertain significance (Aug 16, 2021)
20-18398578-T-A		Inborn genetic diseases	Uncertain significance (Nov 15, 2021)
20-18412663-G-T		not specified	Uncertain significance (Jun 03, 2022)
20-18412666-G-A		not specified	Uncertain significance (Oct 26, 2022)
20-18412783-C-T		not specified	Uncertain significance (Jun 30, 2023)
20-18412786-A-T		not specified	Uncertain significance (May 30, 2023)
20-18412834-G-A		not specified	Uncertain significance (Jan 30, 2024)
20-18414379-A-G		not specified	Uncertain significance (Oct 03, 2023)
20-18414380-G-C		not specified	Uncertain significance (Jan 17, 2024)
20-18415422-G-A		not specified	Uncertain significance (Apr 19, 2023)
20-18415442-C-G		not specified	Uncertain significance (Feb 28, 2023)
20-18415445-A-G		not specified	Uncertain significance (Oct 14, 2023)
20-18427071-T-A		not specified	Uncertain significance (Aug 02, 2021)
20-18427086-G-T		not specified	Uncertain significance (Feb 05, 2024)
20-18433693-G-A		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DZANK1	protein_coding	protein_coding	ENST00000262547	20	83915

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.30e-21	0.0107	124514	0	142	124656	0.000570

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.135	395	388	1.02	0.0000197	4869
Missense in Polyphen		104	111.31	0.93429		1505
Synonymous	0.111	144	146	0.988	0.00000807	1448
Loss of Function	0.712	34	38.8	0.877	0.00000198	489

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00131	0.00128
Ashkenazi Jewish	0.000199	0.000199
East Asian	0.000449	0.000445
Finnish	0.000233	0.000232
European (Non-Finnish)	0.000704	0.000699
Middle Eastern	0.000449	0.000445
South Asian	0.000742	0.000719
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0735

Intolerance Scores

• rvis_EVS: 0.53
• rvis_percentile_EVS: 81.01

Haploinsufficiency Scores

• pHI: 0.0490
• hipred: N
• hipred_score: 0.197
• ghis: 0.461

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dzank1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: dzank1
• Affected structure: eye photoreceptor cell
• Phenotype tag: abnormal
• Phenotype quality: vacuolated

Gene ontology

• Molecular function: metal ion binding