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

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
15-79214473-C-T	ENST00000220166	p.Ter336Ter	Stop Retained Variant	0	0	0	rs866745703
15-79214475-C-T	ENST00000220166	p.Val335Val	Synonymous Variant	0	0	0	rs770904747
15-79214476-A-G	ENST00000220166	p.Val335Ala	Missense Variant	0	0	0	rs1174501099
15-79214477-C-T	ENST00000220166	p.Val335Met	Missense Variant	0	0	0	rs1405583971
15-79214478-C-G	ENST00000220166	p.Leu334Leu	Synonymous Variant	0	0	0	rs1382897366
15-79214483-G-A	ENST00000220166	p.Pro333Ser	Missense Variant	0	0	0	rs1320353561
15-79214484-G-A	ENST00000220166	p.Ile332Ile	Synonymous Variant	0	0	0	rs780860094
15-79214487-G-T	ENST00000220166	p.Pro331Pro	Synonymous Variant	0	0	0	rs1430558326
15-79214490-G-A	ENST00000220166	p.Tyr330Tyr	Synonymous Variant	0	0	0	rs1284340291
15-79214492-A-AG	ENST00000220166	p.Tyr330LeufsTer81	Frameshift Variant	0	0	0	rs1347716296	lc_lof
15-79214493-G-A	ENST00000220166	p.Ser329Ser	Synonymous Variant	9	31384	0.000287	rs374155645
15-79214498-C-T	ENST00000220166	p.Ala328Thr	Missense Variant	0	0	0	rs148078851
15-79214500-C-G	ENST00000220166	p.Cys327Ser	Missense Variant	0	0	0	rs1329391549
15-79214502-G-A	ENST00000220166	p.Ala326Ala	Synonymous Variant	0	0	0	rs1206451335
15-79214504-C-T	ENST00000220166	p.Ala326Thr	Missense Variant	0	0	0	rs771175901
15-79214504-CA-C	ENST00000220166	p.Ala326ProfsTer69	Frameshift Variant	0	0	0	rs771175901	lc_lof
15-79214512-C-A	ENST00000220166	p.Gly323Val	Missense Variant	0	0	0	rs1281448625
15-79214517-CAT-C	ENST00000220166	p.Met321ValfsTer89	Frameshift Variant	0	0	0	rs989262100	lc_lof
15-79214518-A-G	ENST00000220166	p.Met321Thr	Missense Variant	1	31368	0.000032	rs1199431032
15-79214520-G-A	ENST00000220166	p.Asn320Asn	Synonymous Variant	0	0	0	rs377615434

Showing 1 to 20 of 355 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
CTSH	P09668	Phosphorylation	103	S103-p	WSEPQNCsATkSNYL	37.39	25173089
CTSH	P09668	Ubiquitination	106	K106-ub	PQNCsATkSNYLRGT	37.39	22242901
CTSH	P09668	Phosphorylation	204	T204-p	KGIMGEDtyPYQGKD	37.39	55370096
CTSH	P09668	Phosphorylation	205	Y205-p	GIMGEDtyPYQGKDG	37.39	55370101
CTSH	P09668	Phosphorylation	94	Y94-p	FAEIKHKyLWSEPQN	37.39	25173086

Showing 1 to 5 of 5 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

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
CTSH	ENST00000220166	TCGA-D9-A3Z1-06	skin	malignant_melanoma	20660971	c.98T>C	p.F33S	Substitution - Missense	PATHOGENIC	.91371	Confirmed somatic variant	PMID: N/A	NS	33
CTSH	ENST00000220166	TCGA-HE-7130-01	kidney	carcinoma	20660942	c.769C>A	p.Q257K	Substitution - Missense	NEUTRAL	.11197	Confirmed somatic variant	PMID: N/A	NS	257
CTSH	ENST00000220166	TCGA-VS-A959-01	cervix	carcinoma	20661351	c.389C>T	p.S130L	Substitution - Missense	PATHOGENIC	.94759	Confirmed somatic variant	PMID: N/A	primary	130
CTSH	ENST00000220166	TCGA-FS-A1Z4-06	skin	malignant_melanoma	20661126	c.841C>A	p.H281N	Substitution - Missense	PATHOGENIC	.97651	Confirmed somatic variant	PMID: N/A	NS	281
CTSH	ENST00000220166	CRC-12T	large_intestine	carcinoma	20660979	c.932+24T>G	p.?	Unknown	NEUTRAL	.01345	Confirmed somatic variant	PMID: N/A	primary	0
CTSH	ENST00000220166	TCGA-HU-A4H6-01	stomach	carcinoma	20660876	c.865G>A	p.G289R	Substitution - Missense	PATHOGENIC	.95754	Confirmed somatic variant	PMID: N/A	NS	289
CTSH	ENST00000220166	CHG-91T	liver	other	20661236	c.*50C>A	p.?	Unknown	NEUTRAL	.12057	Confirmed somatic variant	PMID: N/A	primary	0
CTSH	ENST00000220166	0047_CRUK_PC_0047_T1_DNA	prostate	carcinoma	20661287	c.*1012T>C	p.?	Unknown	NEUTRAL	.01968	Confirmed somatic variant	PMID: N/A	primary	0
CTSH	ENST00000220166	CN-AML-08-T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	20660984	c.92-5T>C	p.?	Unknown	NEUTRAL	.14669	Confirmed somatic variant	PMID: N/A	primary	0
CTSH	ENST00000220166	TCGA-BR-8487-01	stomach	carcinoma	20660978	c.113G>T	p.W38L	Substitution - Missense	PATHOGENIC	.94287	Confirmed somatic variant	PMID: N/A	NS	38
CTSH	ENST00000220166	TCGA-AJ-A3EK-01	endometrium	carcinoma	20661112	c.699+1G>A	p.?	Unknown	PATHOGENIC	.96107	Confirmed somatic variant	PMID: N/A	NS	0
CTSH	ENST00000220166	TCGA-AZ-4315-01	large_intestine	carcinoma	20661211	c.706G>A	p.E236K	Substitution - Missense	PATHOGENIC	.96221	Confirmed somatic variant	PMID: N/A	NS	236
CTSH	ENST00000220166	TCGA-AX-A063-01	endometrium	carcinoma	20661374	c.535C>A	p.H179N	Substitution - Missense	PATHOGENIC	.94611	Confirmed somatic variant	PMID: N/A	primary	179
CTSH	ENST00000220166	TCGA-33-AAS8-01	lung	carcinoma	20661195	c.475G>A	p.G159R	Substitution - Missense	PATHOGENIC	.88071	Confirmed somatic variant	PMID: N/A	primary	159
CTSH	ENST00000220166	TCGA-AZ-4315-01	large_intestine	carcinoma	20661109	c.517G>A	p.A173T	Substitution - Missense	PATHOGENIC	.92483	Confirmed somatic variant	PMID: N/A	NS	173
CTSH	ENST00000220166	2014_Lung_sq_07_T	lung	carcinoma	20660906	c.301-94G>A	p.?	Unknown	NEUTRAL	.054	Confirmed somatic variant	PMID: N/A	primary	0
CTSH	ENST00000220166	PCSI_0210_Pa_P_526	pancreas	carcinoma	20661391	c.123+40A>G	p.?	Unknown	NEUTRAL	.05176	Confirmed somatic variant	PMID: N/A	primary	0
CTSH	ENST00000220166	RK197_C01	liver	carcinoma	20660875	c.301-254G>T	p.?	Unknown	NEUTRAL	.14384	Confirmed somatic variant	PMID: N/A	NS	0
CTSH	ENST00000220166	TCGA-QQ-A8VF-01	soft_tissue	sarcoma	20661109	c.517G>A	p.A173T	Substitution - Missense	PATHOGENIC	.92483	Confirmed somatic variant	PMID: N/A	NS	173
CTSH	ENST00000220166	2017_AML_06_T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	20661296	c.92-2236T>C	p.?	Unknown	NEUTRAL	.00041	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 113 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	116-332	CL0125	Peptidase_CA	Homo sapiens
PF08246	Inhibitor_I29	Cathepsin propeptide inhibitor domain (I29)	35-90			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Diabetes Mellitus, Insulin-Dependent	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.663	0.517
Leukemia, Myelocytic, Acute	Neoplasms ;	0.663	0.517
Acute Myeloid Leukemia, M1	Neoplasms ;	0.663	0.517
Narcolepsy	Nervous System Diseases ; Mental Disorders ;	0.663	0.517
Diabetes, Autoimmune	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.663	0.517
Brittle diabetes	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.663	0.517
Narcolepsy-Cataplexy Syndrome	Nervous System Diseases ; Mental Disorders ;	0.663	0.517
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.663	0.517
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.663	0.517
Diabetes Mellitus, Ketosis-Prone	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.663	0.517
NO RESULT FOUND

Description:	cathepsin H [Source:NCBI gene;Acc:711437]
Synonyms:
Other ID(s):	ENSMMUG00000010093
Protein Accession Numbers:	XP_001108862
Statistics:	ClinVar(6) gnomAD(355) COSMIC(113) PTM(5)

Classification of Clinicial Significance of ClinVar Data