WIZ

WIZ zinc finger, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:15419978-15449956

Links

ENSG00000011451 ∙ NCBI:58525 ∙ OMIM:619715 ∙ HGNC:30917 ∙ Uniprot:O95785 ∙ 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 WIZ gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WIZ 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				2		2
missense			57	3		60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	57	5	0

Variants in WIZ

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

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

Position	Type	Phenotype	Significance	ClinVar
19-15423084-C-A		not specified	Uncertain significance (May 23, 2024)
19-15423129-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-15423131-G-A		not specified	Uncertain significance (Jun 07, 2023)
19-15423132-G-A		not specified	Uncertain significance (Jun 06, 2023)
19-15423146-G-C		not specified	Uncertain significance (Aug 23, 2021)
19-15423171-G-A		not specified	Uncertain significance (Sep 30, 2021)
19-15424237-G-C		not specified	Uncertain significance (Jan 08, 2024)
19-15424250-G-C		not specified	Uncertain significance (Dec 09, 2023)
19-15424256-G-A		not specified	Uncertain significance (Jul 27, 2021)
19-15424277-G-C		not specified	Uncertain significance (Dec 19, 2022)
19-15424286-G-A		not specified	Uncertain significance (Dec 20, 2023)
19-15424340-C-T		not specified	Uncertain significance (May 24, 2023)
19-15424355-G-A		not specified	Uncertain significance (Jan 19, 2024)
19-15424358-G-A		not specified	Uncertain significance (Dec 01, 2022)
19-15424627-C-T		not specified	Uncertain significance (Jan 16, 2024)
19-15424660-G-A		not specified	Uncertain significance (Jul 26, 2022)
19-15424681-T-C		not specified	Uncertain significance (Aug 22, 2023)
19-15424705-G-C		not specified	Uncertain significance (Jan 10, 2022)
19-15424739-C-T		not specified	Uncertain significance (Jan 16, 2024)
19-15424741-A-C		not specified	Uncertain significance (Dec 02, 2021)
19-15424777-G-A		not specified	Uncertain significance (Apr 07, 2022)
19-15424790-T-C		not specified	Likely benign (Dec 19, 2022)
19-15424838-C-T		not specified	Uncertain significance (Aug 17, 2022)
19-15424840-C-T		not specified	Uncertain significance (Sep 13, 2023)
19-15424858-T-C		not specified	Uncertain significance (Apr 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WIZ	protein_coding	protein_coding	ENST00000263381	7	28444

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00135	124780	0	5	124785	0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.38	378	533	0.709	0.0000375	4964
Missense in Polyphen		129	230.45	0.55976		2030
Synonymous	0.320	222	228	0.973	0.0000157	1786
Loss of Function	4.56	2	28.0	0.0714	0.00000171	284

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000267	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.0650
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.46

Haploinsufficiency Scores

• pHI: 0.347
• hipred: Y
• hipred_score: 0.658
• ghis: 0.620

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.782

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wiz
• Phenotype: cellular 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)

Gene ontology

• Biological process: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;positive regulation of nuclear cell cycle DNA replication;protein stabilization;protein heterotrimerization
• Cellular component: nucleus;nucleoplasm;midbody;extracellular exosome
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;nucleic acid binding;DNA-binding transcription factor activity;protein binding;metal ion binding;SET domain binding