CUZD1

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			76 clinvar	5 clinvar		81
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	6	0	82

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022034.6	RefSeq	NP_071317.2	9	MANE Select
ENST00000392790.6	Ensembl	ENSP00000376540.1	9	MANE Select
ENST00000338948.3	Ensembl	ENSP00000340905.4	2	Standard
ENST00000368900.5	Ensembl	ENSP00000357896.2	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

cadmium induces dna synthesis and proliferation in macrophages

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

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000368904
Coding exons: 9
Length: 47482
Individuals with no LoFs: 125671
Homozygous LoFs: 0
Heterozygous LoFs: 77
Defined: 125748
p: 0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.580	287	316	0.908	0.0000155	3987
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00041	0.00040	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0011	0.0011	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00030	0.00030	rare
South Asian	0.00017	0.00013	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.602
RVIS EVS: 0.65
RVIS percentile EVS: 84.12

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.162

Gene Damage Prediction

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