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.

• not_specified (78 variants)
• not_provided (3 variants)

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. These statistics are base on transcript: NM_001386010.1. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			73	6	1	80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	73	7	1

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