ZCWPW2

zinc finger CW-type and PWWP domain containing 2, the group of Zinc fingers CW-type|PWWP domain containing

Basic information

Region (hg38): 3:28348721-28538122

Links

ENSG00000206559 ∙ NCBI:152098 ∙ ∙ HGNC:23574 ∙ Uniprot:Q504Y3 ∙ 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 ZCWPW2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZCWPW2 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			18	2		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	18	2	0

Variants in ZCWPW2

This is a list of pathogenic ClinVar variants found in the ZCWPW2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-28413076-A-C		not specified	Uncertain significance (Sep 17, 2021)
3-28413213-T-A		not specified	Uncertain significance (Nov 02, 2023)
3-28413220-A-G		not specified	Uncertain significance (May 29, 2024)
3-28413268-G-C		not specified	Uncertain significance (Dec 13, 2022)
3-28413277-A-G		not specified	Uncertain significance (Dec 23, 2022)
3-28413283-C-T		not specified	Uncertain significance (Jul 05, 2023)
3-28413325-A-G		not specified	Uncertain significance (Jul 05, 2023)
3-28435136-G-A		not specified	Uncertain significance (Jun 17, 2024)
3-28435183-G-C		not specified	Likely benign (Sep 26, 2023)
3-28435190-A-G		not specified	Uncertain significance (Jan 09, 2024)
3-28435268-A-G		not specified	Uncertain significance (Nov 16, 2021)
3-28478826-A-C		not specified	Uncertain significance (Feb 14, 2023)
3-28478831-T-G		not specified	Likely benign (Jan 24, 2023)
3-28478869-G-T		not specified	Uncertain significance (Sep 13, 2023)
3-28478878-A-G		not specified	Uncertain significance (Nov 21, 2022)
3-28492127-A-G		not specified	Uncertain significance (Jun 13, 2023)
3-28514093-G-C		not specified	Uncertain significance (Mar 07, 2024)
3-28514097-A-C		not specified	Uncertain significance (Nov 07, 2022)
3-28515574-C-G		not specified	Uncertain significance (Jun 29, 2023)
3-28515612-G-C		not specified	Uncertain significance (Apr 24, 2024)
3-28520994-G-A		not specified	Uncertain significance (Mar 23, 2023)
3-28521004-C-T		not specified	Uncertain significance (May 31, 2023)
3-28521010-T-C		not specified	Uncertain significance (Mar 30, 2024)
3-28524594-T-C		not specified	Uncertain significance (Oct 06, 2022)
3-28524626-G-C		not specified	Uncertain significance (Apr 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZCWPW2	protein_coding	protein_coding	ENST00000383768	8	188977

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000141	0.848	125676	0	62	125738	0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.906	204	171	1.20	0.00000774	2341
Missense in Polyphen		33	40.759	0.80963		546
Synonymous	-0.822	70	61.8	1.13	0.00000307	585
Loss of Function	1.47	12	18.9	0.636	7.87e-7	286

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000617	0.000616
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.000109	0.000109
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000285	0.000281
Middle Eastern	0.000109	0.000109
South Asian	0.000101	0.0000980
Other	0.000172	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.860
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.29

Haploinsufficiency Scores

• pHI: 0.137
• hipred: N
• hipred_score: 0.123
• ghis: 0.446

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0402

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zcwpw2

Gene ontology

• Molecular function: zinc ion binding