CUZD1

CUB and zona pellucida like domains 1

Basic information

Region (hg38): 10:122832157-122846175

Links

ENSG00000138161 ∙ NCBI:50624 ∙ OMIM:616644 ∙ HGNC:17937 ∙ Uniprot:Q86UP6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CUZD1 gene.

• Inborn genetic diseases (17 variants)
• not specified (2 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CUZD1 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			14	3		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	14	4	2

Variants in CUZD1

This is a list of pathogenic ClinVar variants found in the CUZD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-122832313-C-T		not specified	Likely benign (Feb 28, 2023)
10-122832340-T-G		not specified	Uncertain significance (Feb 06, 2024)
10-122832343-T-C		not specified	Uncertain significance (Dec 26, 2023)
10-122833801-G-A		not specified	Uncertain significance (Jan 09, 2024)
10-122833909-G-A		not specified	Uncertain significance (Dec 19, 2023)
10-122834711-C-G		not specified	Uncertain significance (Nov 23, 2022)
10-122834751-G-T		not specified	Uncertain significance (Mar 02, 2023)
10-122834783-C-G		not specified	Uncertain significance (Dec 21, 2022)
10-122834839-C-A		not specified	Uncertain significance (Mar 06, 2023)
10-122834857-C-G		not specified	Uncertain significance (Aug 02, 2023)
10-122834897-C-T		not specified	Uncertain significance (Dec 08, 2023)
10-122834960-T-C		not specified	Likely benign (Apr 22, 2022)
10-122834971-C-T		not specified	Uncertain significance (Jun 06, 2023)
10-122834989-T-C		not specified	Uncertain significance (Jan 30, 2024)
10-122836186-T-C		not specified	Uncertain significance (Oct 22, 2021)
10-122836210-C-T		not specified	Likely benign (Jul 09, 2021)
10-122836231-A-T		not specified	Uncertain significance (Jul 13, 2021)
10-122836347-G-T		not specified	Uncertain significance (Oct 29, 2021)
10-122836358-GA-G		not specified	Benign (Mar 29, 2016)
10-122836358-GAA-G		not specified	Benign (Mar 29, 2016)
10-122836834-T-G		not specified	Uncertain significance (Oct 30, 2023)
10-122836882-G-A		not specified	Uncertain significance (Dec 07, 2023)
10-122836990-T-C		not specified	Uncertain significance (Jun 03, 2022)
10-122836998-C-A		not specified	Uncertain significance (Sep 14, 2022)
10-122837040-A-C		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CUZD1	protein_coding	protein_coding	ENST00000368904	9	47482

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.29e-11	0.243	125671	0	77	125748	0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.580	287	316	0.908	0.0000155	3987
Missense in Polyphen		91	108.27	0.84051		1400
Synonymous	-0.343	123	118	1.04	0.00000614	1162
Loss of Function	0.877	19	23.6	0.805	0.00000115	316

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000594	0.000594
Ashkenazi Jewish	0.00	0.00
East Asian	0.00109	0.00109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000303	0.000299
Middle Eastern	0.00109	0.00109
South Asian	0.000169	0.000131
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: CUZD1 antiserum inhibits cell attachment and proliferation of ovarian cancer cells so may be involved in these processes. May also play a role in the uterus during late pregnancy and/or in trypsin activation in pancreatic acinar cells. {ECO:0000250|UniProtKB:P70412, ECO:0000269|PubMed:15184879}.
• Pathway: cadmium induces dna synthesis and proliferation in macrophages (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.602
• rvis_EVS: 0.65
• rvis_percentile_EVS: 84.12

Haploinsufficiency Scores

• pHI: 0.0850
• hipred: N
• hipred_score: 0.123
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.162

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cuzd1
• Phenotype: cellular phenotype; endocrine/exocrine gland phenotype; reproductive system 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); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype

Gene ontology

• Biological process: substrate-dependent cell migration, cell attachment to substrate;cell cycle;cell population proliferation;trypsinogen activation;cell division
• Cellular component: integral component of membrane;transport vesicle membrane;zymogen granule membrane