ZCWPW1

zinc finger CW-type and PWWP domain containing 1, the group of Zinc fingers CW-type|PWWP domain containing

Basic information

Region (hg38): 7:100400826-100428992

Links

ENSG00000078487 ∙ NCBI:55063 ∙ OMIM:618900 ∙ HGNC:23486 ∙ Uniprot:Q9H0M4 ∙ 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 ZCWPW1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZCWPW1 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				1		1
missense			42	4		46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	5	0

Variants in ZCWPW1

This is a list of pathogenic ClinVar variants found in the ZCWPW1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-100401052-C-T		not specified	Uncertain significance (Jul 13, 2022)
7-100401094-T-C		not specified	Uncertain significance (Oct 11, 2024)
7-100401162-C-A		not specified	Uncertain significance (Dec 05, 2024)
7-100401169-C-T		not specified	Uncertain significance (Jun 17, 2024)
7-100401181-G-A		not specified	Uncertain significance (Apr 12, 2023)
7-100401217-G-A		not specified	Uncertain significance (May 11, 2022)
7-100401232-A-C		not specified	Uncertain significance (Aug 12, 2021)
7-100401312-G-A		not specified	Uncertain significance (Nov 26, 2024)
7-100401897-T-C		not specified	Uncertain significance (Sep 20, 2023)
7-100401949-G-C		not specified	Uncertain significance (Mar 11, 2024)
7-100401951-G-A		not specified	Uncertain significance (Sep 11, 2024)
7-100401972-G-T		not specified	Uncertain significance (Jan 23, 2023)
7-100402527-G-T		not specified	Uncertain significance (Apr 28, 2022)
7-100402551-C-T		not specified	Likely benign (Oct 08, 2024)
7-100402565-C-A		not specified	Uncertain significance (Oct 26, 2021)
7-100403744-C-G		not specified	Uncertain significance (Jul 19, 2023)
7-100403744-C-T		not specified	Uncertain significance (Sep 05, 2024)
7-100403764-T-C		not specified	Uncertain significance (Sep 20, 2023)
7-100404207-T-C		not specified	Likely benign (Feb 16, 2023)
7-100406746-G-A		not specified	Uncertain significance (Jun 17, 2022)
7-100406755-G-A		not specified	Uncertain significance (Sep 29, 2023)
7-100406782-G-A		not specified	Uncertain significance (May 15, 2024)
7-100407229-G-A		not specified	Uncertain significance (Apr 17, 2023)
7-100407285-T-G		not specified	Uncertain significance (Aug 23, 2021)
7-100407293-T-C		not specified	Uncertain significance (Dec 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZCWPW1	protein_coding	protein_coding	ENST00000398027	16	28167

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.12e-13	0.707	124739	1	54	124794	0.000220

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.13	286	345	0.829	0.0000175	4251
Missense in Polyphen		58	84.253	0.68841		1100
Synonymous	0.766	116	127	0.913	0.00000667	1201
Loss of Function	1.73	26	37.4	0.695	0.00000203	416

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000767	0.000764
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000559	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.000177	0.000168
Middle Eastern	0.0000559	0.0000556
South Asian	0.000165	0.000131
Other	0.000990	0.000990

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.891
• rvis_EVS: 0.69
• rvis_percentile_EVS: 85.21

Haploinsufficiency Scores

• pHI: 0.0487
• hipred: N
• hipred_score: 0.146
• ghis: 0.387

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.317

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zcwpw1

Gene ontology

• Molecular function: zinc ion binding