ConVarT

CTSH (GeneID: 1512) | Homo sapiens

Description:	cathepsin H [Source:HGNC Symbol;Acc:HGNC:2535]
Synonyms:	ACC5, ACC-4, ACC4, CPSB, ACC-5
Other ID(s):	HGNC:2535, ENSG00000103811
Protein Accession Numbers:	NP_004381, ENST00000529861, ENST00000220166.5, NP_001306066, ENST00000528741, ENST00000220166, ENST00000533777, ENST00000525807
Statistics:	gnomAD(71)

gnomAD Variants By Annotation

Frameshift Variant

Inframe Insertion

Missense Variant

Start Lost

Stop Gained

Stop Lost

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000220166 ENST00000525807 ENST00000528741 ENST00000529861 ENST00000533777 NP_001306066 NP_004381

ClinVar Data

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 Insertion

Missense Variant

Start Lost

Stop Gained

Stop Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
15-79237199-T-C	ENST00000529861	p.Ter42TrpextTer61	Stop Lost	0	0	0	rs1203584427
15-79237200-A-G	ENST00000529861	p.Ter42GlnextTer61	Stop Lost	1	31354	0.000032	rs1256324646
15-79237201-G-C	ENST00000529861	p.Cys41Trp	Missense Variant	0	0	0	rs778404694
15-79237211-G-C	ENST00000529861	p.Pro38Arg	Missense Variant	0	0	0	rs1190398160
15-79237214-C-A	ENST00000529861	p.Arg37Leu	Missense Variant	0	0	0	rs532901364
15-79237215-G-A	ENST00000529861	p.Arg37Cys	Missense Variant	0	0	0	rs558555463
15-79237223-C-A	ENST00000529861	p.Arg34Met	Missense Variant	0	0	0	rs1187117245
15-79237223-C-T	ENST00000529861	p.Arg34Lys	Missense Variant	1	31362	0.000032	rs1187117245
15-79237224-T-C	ENST00000529861	p.Arg34Gly	Missense Variant	0	0	0	rs1422291463
15-79237228-C-T	ENST00000529861	p.Thr32Thr	Synonymous Variant	0	0	0	rs1408664248
15-79237229-G-A	ENST00000529861	p.Thr32Met	Missense Variant	0	0	0	rs1170228673
15-79237232-C-T	ENST00000529861	p.Gly31Asp	Missense Variant	0	0	0	rs1049637543
15-79237233-C-A	ENST00000529861	p.Gly31Cys	Missense Variant	0	0	0	rs1436954623
15-79237237-G-A	ENST00000529861	p.Ser29Ser	Synonymous Variant	1	31366	0.000032	rs1310769564		RF
15-79237238-G-A	ENST00000529861	p.Ser29Phe	Missense Variant	0	0	0	rs1354353658
15-79237240-G-A	ENST00000529861	p.Asn28Asn	Synonymous Variant	0	0	0	rs757692804
15-79237243-C-A	ENST00000529861	p.Val27Val	Synonymous Variant	0	0	0	rs1271378316
15-79237245-C-T	ENST00000529861	p.Val27Met	Missense Variant	0	0	0	rs1359816703
15-79237246-G-T	ENST00000529861	p.Cys26Ter	Stop Gained	0	0	0	rs887763614	nc_transcript
15-79237247-C-G	ENST00000529861	p.Cys26Ser	Missense Variant	16461	31234	0.527022	rs1036938

Showing 1 to 20 of 71 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

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

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	114-330	CL0125	Peptidase_CA	Mus musculus
PF08246	Inhibitor_I29	Cathepsin propeptide inhibitor domain (I29)	33-88			Mus musculus

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

Classification of Clinicial Significance of ClinVar Data