ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
20-57570709-C-T	ENST00000217131	p.Val303Ile	Missense Variant	3	31396	0.000096	rs772671004
20-57570710-G-A	ENST00000217131	p.Ile302Ile	Synonymous Variant	0	0	0	rs762587538
20-57570711-A-T	ENST00000217131	p.Ile302Asn	Missense Variant	0	0	0	rs1293990816
20-57570712-T-A	ENST00000217131	p.Ile302Phe	Missense Variant	0	0	0	rs748164483
20-57570717-T-C	ENST00000217131	p.Asp300Gly	Missense Variant	0	0	0	rs1323542530
20-57570722-A-G	ENST00000217131	p.Phe298Phe	Synonymous Variant	0	0	0	rs1225552721
20-57570731-G-C	ENST00000217131	p.His295Gln	Missense Variant	0	0	0	rs770331757
20-57570734-C-G	ENST00000217131	p.Glu294Asp	Missense Variant	0	0	0	rs774886423
20-57570736-C-G	ENST00000217131	p.Glu294Gln	Missense Variant	0	0	0	rs368797360
20-57570736-C-T	ENST00000217131	p.Glu294Lys	Missense Variant	0	0	0	rs368797360
20-57570739-C-A	ENST00000217131	p.Glu293Ter	Stop Gained	1	31390	0.000032	rs753074949	lc_lof
20-57570739-C-T	ENST00000217131	p.Glu293Lys	Missense Variant	0	0	0	rs753074949
20-57570740-G-A	ENST00000217131	p.Ile292Ile	Synonymous Variant	2	31388	0.000064	rs760962516
20-57570742-T-C	ENST00000217131	p.Ile292Val	Missense Variant	0	0	0	rs764445033
20-57570744-G-A	ENST00000217131	p.Ala291Val	Missense Variant	0	0	0	rs753994699
20-57570747-A-G	ENST00000217131	p.Leu290Pro	Missense Variant	0	0	0	rs757409572
20-57570751-T-G	ENST00000217131	p.Asn289His	Missense Variant	0	0	0	rs778830780
20-57570752-G-T	ENST00000217131	p.Tyr288Ter	Stop Gained	0	0	0	rs1372141190	lc_lof
20-57570753-T-C	ENST00000217131	p.Tyr288Cys	Missense Variant	0	0	0	rs750495354
20-57570755-T-C	ENST00000217131	p.Arg287Arg	Synonymous Variant	0	0	0	rs141386152

Showing 1 to 20 of 324 entries

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Post-translational Modifications (PTMs)

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
CTSZ	Q9UBR2	Ubiquitination	166	K166-ub	AKDQECDkFNQCGTC	33.87	964508474
CTSZ	Q9UBR2	Phosphorylation	76	Y76-p	RNVDGVNyASITRNQ	33.87	55379952

Showing 1 to 2 of 2 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
CTSZ	ENST00000217131	T_CCA_TH_12	biliary_tract	carcinoma	23339569	c.487+636dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
CTSZ	ENST00000217131	I2L-P28-Tumor-Organoid	large_intestine	carcinoma	23340048	c.*58G>A	p.?	Unknown	NEUTRAL	.13851	Confirmed somatic variant	PMID: 25957691	NS	0
CTSZ	ENST00000217131	OSCC-GB_01060111	upper_aerodigestive_tract	carcinoma	23341545	c.770G>T	p.W257L	Substitution - Missense	PATHOGENIC	.98211	Confirmed somatic variant	PMID: N/A	primary	257
CTSZ	ENST00000217131	T368	large_intestine	carcinoma	23341389	c.339G>C	p.W113C	Substitution - Missense	PATHOGENIC	.96182	Confirmed somatic variant	PMID: 25344691	NS	113
CTSZ	ENST00000217131	LP6008141-DNA_G01	oesophagus	carcinoma	23341688	c.488-80G>C	p.?	Unknown	NEUTRAL	.13083	Confirmed somatic variant	PMID: N/A	primary	0
CTSZ	ENST00000217131	ESCC_24	oesophagus	carcinoma	23339361	c.42C>G	p.L14=	Substitution - coding silent	NEUTRAL	.00686	Confirmed somatic variant	PMID: 26873401	NS	14
CTSZ	ENST00000217131	TCGA-EW-A1J5-01	breast	carcinoma	23341170	c.731C>T	p.S244F	Substitution - Missense	PATHOGENIC	.96806	Confirmed somatic variant	PMID: N/A	primary	244
CTSZ	ENST00000217131	PD6415a	breast	carcinoma	23340895	c.307+1361G>A	p.?	Unknown	NEUTRAL	.13199	Confirmed somatic variant	PMID: N/A	primary	0
CTSZ	ENST00000217131	OSCC-GB_01230111	upper_aerodigestive_tract	carcinoma	23339609	c.488-514T>A	p.?	Unknown	NEUTRAL	.05318	Confirmed somatic variant	PMID: N/A	primary	0
CTSZ	ENST00000217131	CHG-10-51040T	liver	other	23339474	c.622G>A	p.A208T	Substitution - Missense	NEUTRAL	.21515	Confirmed somatic variant	PMID: N/A	primary	208
CTSZ	ENST00000217131	TCGA-C5-A1MP-01	cervix	carcinoma	23339238	c.785C>T	p.S262L	Substitution - Missense	PATHOGENIC	.99236	Confirmed somatic variant	PMID: N/A	NS	262
CTSZ	ENST00000217131	H1648	lung	carcinoma	23339474	c.622G>A	p.A208T	Substitution - Missense	NEUTRAL	.21515	Reported in another cancer sample as somatic	PMID: 29681454	NS	208
CTSZ	ENST00000217131	TCGA-AA-3715-01	large_intestine	carcinoma	23339400	c.335C>T	p.A112V	Substitution - Missense	PATHOGENIC	.84813	Confirmed somatic variant	PMID: 22810696	NS	112
CTSZ	ENST00000217131	CPCG0249-F1	prostate	carcinoma	23340801	c.308-706G>A	p.?	Unknown	NEUTRAL	.02401	Confirmed somatic variant	PMID: N/A	primary	0
CTSZ	ENST00000217131	TCGA-HC-8216-01	prostate	carcinoma	23340565	c.384C>T	p.N128=	Substitution - coding silent	NEUTRAL	.05002	Confirmed somatic variant	PMID: N/A	NS	128
CTSZ	ENST00000217131	TCGA-SL-A6JA-01	endometrium	carcinoma	23339400	c.335C>T	p.A112V	Substitution - Missense	PATHOGENIC	.84813	Confirmed somatic variant	PMID: N/A	primary	112
CTSZ	ENST00000217131	EW8	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	23340851	c.154C>T	p.R52W	Substitution - Missense	PATHOGENIC	.70792	Reported in another cancer sample as somatic	PMID: 25186949	NS	52
CTSZ	ENST00000217131	AOCS-112-1-2	ovary	carcinoma	23340771	c.802-287G>C	p.?	Unknown	NEUTRAL	.04778	Confirmed somatic variant	PMID: N/A	NS	0
CTSZ	ENST00000217131	TCGA-G3-A25U-01	liver	carcinoma	23340211	c.863A>G	p.Y288C	Substitution - Missense	PATHOGENIC	.96823	Confirmed somatic variant	PMID: N/A	NS	288
CTSZ	ENST00000217131	B61	urinary_tract	carcinoma	23340588	c.687C>T	p.I229=	Substitution - coding silent	PATHOGENIC	.84589	Confirmed somatic variant	PMID: 24121792	NS	229

Showing 1 to 20 of 100 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00112	Peptidase_C1	Papain family cysteine protease	62-296	CL0125	Peptidase_CA	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.676	0.345
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.676	0.345
Acute Myeloid Leukemia, M1	Neoplasms ;	0.676	0.345
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.676	0.345
NO RESULT FOUND

Description:	cathepsin Z [Source:ZFIN;Acc:ZDB-GENE-041010-139]
Synonyms:	wu:fj81f10, zgc:103420
Other ID(s):	ZDB-GENE-041010-139, ENSDARG00000043081
Protein Accession Numbers:	NP_001006043
Statistics:	ClinVar(3) gnomAD(324) COSMIC(100) PTM(2)

Classification of Clinicial Significance of ClinVar Data