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

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
10-115457262-G-T	ENST00000345633	p.Asp4Tyr	Missense Variant	0	0	0	rs760037965
10-115457262-G-T	ENST00000369318	p.Asp4Tyr	Missense Variant	0	0	0	rs760037965
10-115457264-T-C	ENST00000345633	p.Asp4Asp	Synonymous Variant	1	31352	0.000032	rs11555408
10-115457264-T-C	ENST00000369318	p.Asp4Asp	Synonymous Variant	1	31352	0.000032	rs11555408
10-115457264-T-G	ENST00000345633	p.Asp4Glu	Missense Variant	3286	31352	0.10481	rs11555408
10-115457264-T-G	ENST00000369318	p.Asp4Glu	Missense Variant	3286	31352	0.10481	rs11555408
10-115457265-C-A	ENST00000345633	p.Gln5Lys	Missense Variant	0	0	0	rs776136915
10-115457265-C-A	ENST00000369318	p.Gln5Lys	Missense Variant	0	0	0	rs776136915
10-115457275-T-C	ENST00000345633	p.Ile8Thr	Missense Variant	0	0	0	rs759300961
10-115457275-T-C	ENST00000369318	p.Ile8Thr	Missense Variant	0	0	0	rs759300961
10-115457279-A-G	ENST00000345633	p.Glu9Glu	Synonymous Variant	0	0	0	rs765674065
10-115457279-A-G	ENST00000369318	p.Glu9Glu	Synonymous Variant	0	0	0	rs765674065
10-115457282-G-C	ENST00000345633	p.Glu10Asp	Missense Variant	0	0	0	rs753061397
10-115457282-G-C	ENST00000369318	p.Glu10Asp	Missense Variant	0	0	0	rs753061397
10-115457284-AG-A	ENST00000345633	p.Val13LeufsTer50	Frameshift Variant	2	31366	0.000064	rs1409918710
10-115457284-AG-A	ENST00000369318	p.Val13LeufsTer50	Frameshift Variant	2	31366	0.000064	rs1409918710
10-115457287-G-A	ENST00000345633	p.Gly12Glu	Missense Variant	22	31372	0.000701	rs147218371
10-115457287-G-A	ENST00000369318	p.Gly12Glu	Missense Variant	22	31372	0.000701	rs147218371
10-115457288-G-A	ENST00000345633	p.Gly12Gly	Synonymous Variant	0	0	0	rs764437283
10-115457288-G-A	ENST00000369318	p.Gly12Gly	Synonymous Variant	0	0	0	rs764437283

Showing 1 to 20 of 546 entries

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Post-translational Modifications (PTMs)

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
CASP7	P55210	Ubiquitination	153	K153-ub	EENVIYGkDGVtPIk	34.28	964503172
CASP7	P55210	Phosphorylation	157	T157-p	IYGkDGVtPIkDLTA	34.28	31872894
CASP7	P55210	Phosphorylation	16	S16-p	EEQGVEDsANEDSVD	34.28	484168
CASP7	P55210	Ubiquitination	160	K160-ub	kDGVtPIkDLTAHFR	34.28	41483585
CASP7	P55210	Ubiquitination	172	K172-ub	HFRGDRCktLLEkPK	34.28	573765876
CASP7	P55210	Phosphorylation	173	T173-p	FRGDRCktLLEkPKL	34.28	20473606
CASP7	P55210	Ubiquitination	177	K177-ub	RCktLLEkPKLFFIQ	34.28	964503174
CASP7	P55210	Phosphorylation	234	S234-p	PGYYSWRsPGRGsWF	34.28	50830988
CASP7	P55210	Phosphorylation	239	S239-p	WRsPGRGsWFVQALC	34.28	20473607
CASP7	P55210	Phosphorylation	29	S29-p	VDAKPDRssFVPsLF	34.28	12069576
CASP7	P55210	Phosphorylation	30	S30-p	DAKPDRssFVPsLFs	34.28	12069580
CASP7	P55210	Phosphorylation	34	S34-p	DRssFVPsLFskKKK	34.28	31862533
CASP7	P55210	Phosphorylation	37	S37-p	sFVPsLFskKKKNVt	34.28	12069584
CASP7	P55210	Ubiquitination	38	K38-ub	FVPsLFskKKKNVtM	34.28	27992508
CASP7	P55210	Methylation	38	K38-m1	FVPsLFskKKKNVtM	34.28	57983343
CASP7	P55210	Phosphorylation	44	T44-p	skKKKNVtMRsIKTT	34.28	23090594
CASP7	P55210	Phosphorylation	47	S47-p	KKNVtMRsIKTTRDR	34.28	5007363
CASP7	P55210	Ubiquitination	69	K69-ub	MNFEKLGkCIIINNK	34.28	41483580
CASP7	P55210	Ubiquitination	80	K80-ub	INNKNFDkVTGMGVR	34.28	27181197
CASP7	P55210	Ubiquitination	92	K92-ub	GVRNGTDkDAEALFk	34.28	964503176

Showing 1 to 20 of 21 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

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
CASP7_ENST00000345633	ENST00000345633	TCGA-VS-A9UY-01	cervix	carcinoma	30731159	c.235G>C	p.D79H	Substitution - Missense	PATHOGENIC	.98772	Confirmed somatic variant	PMID: N/A	primary	79
CASP7_ENST00000345633	ENST00000345633	8066067	pancreas	carcinoma	30729578	c.111-9478G>C	p.?	Unknown	NEUTRAL	.01865	Confirmed somatic variant	PMID: N/A	NS	0
CASP7_ENST00000345633	ENST00000345633	ACINAR03	pancreas	carcinoma	30731438	c.412G>A	p.A138T	Substitution - Missense	PATHOGENIC	.9952	Confirmed somatic variant	PMID: 24293293	primary	138
CASP7_ENST00000345633	ENST00000345633	RK101_C01	liver	carcinoma	30730831	c.376+1619A>G	p.?	Unknown	NEUTRAL	.09029	Confirmed somatic variant	PMID: N/A	NS	0
CASP7_ENST00000345633	ENST00000345633	5-VS018-T1	skin	carcinoma	30729877	c.259C>T	p.R87*	Substitution - Nonsense	PATHOGENIC	.96321	Confirmed somatic variant	PMID: 26950094	NS	87
CASP7_ENST00000345633	ENST00000345633	PD23558a	breast	carcinoma	30730759	c.*750G>A	p.?	Unknown	NEUTRAL	.01942	Confirmed somatic variant	PMID: N/A	NS	0
CASP7_ENST00000345633	ENST00000345633	CG32	large_intestine	carcinoma	30730508	c.822G>T	p.E274D	Substitution - Missense	PATHOGENIC	.90248	Confirmed somatic variant	PMID: 29937994	NS	274
CASP7_ENST00000345633	ENST00000345633	PD6722a	breast	carcinoma	30730479	c.-74-2671G>C	p.?	Unknown	NEUTRAL	.00566	Confirmed somatic variant	PMID: N/A	primary	0
CASP7_ENST00000345633	ENST00000345633	LICA-CN-HCC_WGS_016T	liver	other	30729828	c.*735A>G	p.?	Unknown	NEUTRAL	.02177	Confirmed somatic variant	PMID: N/A	primary	0
CASP7_ENST00000345633	ENST00000345633	CAL33	upper_aerodigestive_tract	carcinoma	30728952	c.-243C>T	p.?	Unknown	NEUTRAL	.00004	Reported in another cancer sample as somatic	PMID: 25275298	NS	0
CASP7_ENST00000345633	ENST00000345633	H1573	lung	carcinoma	30730164	c.526G>A	p.E176K	Substitution - Missense	PATHOGENIC	.99369	Variant of unknown origin	PMID: 29681454	NS	176
CASP7_ENST00000345633	ENST00000345633	CAL33	upper_aerodigestive_tract	carcinoma	30728933	c.-282G>C	p.?	Unknown	NEUTRAL	.00079	Variant of unknown origin	PMID: 25275298	NS	0
CASP7_ENST00000345633	ENST00000345633	BD114T	biliary_tract	carcinoma	30729843	c.-75+27C>A	p.?	Unknown	NEUTRAL	.00163	Confirmed somatic variant	PMID: N/A	primary	0
CASP7_ENST00000345633	ENST00000345633	BD114T	biliary_tract	carcinoma	30729847	c.707G>T	p.G236V	Substitution - Missense	PATHOGENIC	.81282	Confirmed somatic variant	PMID: N/A	primary	236
CASP7_ENST00000345633	ENST00000345633	PD6415a	breast	carcinoma	30730582	c.110+5607G>A	p.?	Unknown	NEUTRAL	.00402	Confirmed somatic variant	PMID: N/A	primary	0
CASP7_ENST00000345633	ENST00000345633	CAL33	upper_aerodigestive_tract	carcinoma	30729141	c.-169_-168del	p.?	Unknown			Reported in another cancer sample as somatic	PMID: 25275298	NS	0
CASP7_ENST00000345633	ENST00000345633	0193_CRUK_PC_0193_T1_DNA	prostate	carcinoma	30729313	c.377-697A>G	p.?	Unknown	NEUTRAL	.01785	Confirmed somatic variant	PMID: N/A	primary	0
CASP7_ENST00000345633	ENST00000345633	SJEPD035_R	central_nervous_system	glioma	30730335	c.111-4396G>T	p.?	Unknown	NEUTRAL	.09899	Confirmed somatic variant	PMID: 24553141	primary	0
CASP7_ENST00000345633	ENST00000345633	SJEPD035_R	central_nervous_system	glioma	30730340	c.111-4395G>T	p.?	Unknown	NEUTRAL	.14694	Confirmed somatic variant	PMID: 24553141	primary	0
CASP7_ENST00000345633	ENST00000345633	PD13623a	breast	carcinoma	30730756	c.111-5417C>T	p.?	Unknown	NEUTRAL	.00378	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 492 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
PF00656	Peptidase_C14	Caspase domain	67-300	CL0093	Peptidase_CD	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.611	0.586
Leukemia, Myelocytic, Acute	Neoplasms ;	0.611	0.586
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.611	0.586
Acute Myeloid Leukemia, M1	Neoplasms ;	0.611	0.586
Myocardial Reperfusion Injury	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.611	0.586
Vitiligo	Skin and Connective Tissue Diseases ;	0.611	0.586
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.611	0.586
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.611	0.586
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.611	0.586
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.611	0.586
NO RESULT FOUND

Description:	caspase 7 [Source:HGNC Symbol;Acc:HGNC:1508]
Synonyms:	LICE2, CASP-7, ICE-LAP3, MCH3, CMH-1
Other ID(s):	HGNC:1508, ENSG00000165806
Protein Accession Numbers:	NP_001218, ENST00000369331, NP_203124, ENST00000369315, NP_001253986, ENST00000452490, NP_203126, ENST00000369321, NP_001307840, ENST00000345633, NP_001253985, ENST00000429617, NP_203125, ENST00000369318, NP_001253987
Statistics:	ClinVar(6) gnomAD(546) COSMIC(492) PTM(21)

Classification of Clinicial Significance of ClinVar Data