CASZ1

castor zinc finger 1, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 1:10636604-10796650

Links

ENSG00000130940 ∙ NCBI:54897 ∙ OMIM:609895 ∙ HGNC:26002 ∙ Uniprot:Q86V15 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital heart disease (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CASZ1 gene.

• not_provided (404 variants)
• not_specified (236 variants)
• CASZ1-related_disorder (10 variants)
• Primary_dilated_cardiomyopathy (2 variants)
• Cardiomyopathy (2 variants)
• CASZ1-associated_cardiomyopathy (1 variants)
• Autism_spectrum_disorder (1 variants)
• CASZ1-related_dilated_cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CASZ1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001079843.3. 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			6	128	22	156
missense	1		333	32	10	376
nonsense	1	2	4			7
start loss						0
frameshift	2	1	7			10
splice donor/acceptor (+/-2bp)			5			5
Total	4	3	355	160	32

Highest pathogenic variant AF is 0.000008893657

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CASZ1	protein_coding	protein_coding	ENST00000377022	18	160047

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125740	0	5	125745	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.61	866	1.11e+3	0.780	0.0000782	11414
Missense in Polyphen		387	576.91	0.67082		5772
Synonymous	0.499	508	523	0.972	0.0000438	3571
Loss of Function	6.72	4	60.3	0.0663	0.00000293	718

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000268	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441). {ECO:0000269|PubMed:23639441, ECO:0000269|PubMed:27693370}.

Recessive Scores

• pRec: 0.275

Intolerance Scores

• loftool: 0.00200
• rvis_EVS: -2.42
• rvis_percentile_EVS: 1.06

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.532

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;multicellular organism development;positive regulation of transcription, DNA-templated
• Cellular component: nucleoplasm;cytosol;intracellular membrane-bounded organelle
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding