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	Flags
10-28343001-T-C	ENST00000337532	p.His575Arg	Missense Variant	0	0	0	rs778166162
10-28343001-T-C	ENST00000375719	p.His575Arg	Missense Variant	0	0	0	rs778166162
10-28343001-T-C	ENST00000375732	p.His575Arg	Missense Variant	0	0	0	rs778166162
10-28343001-T-C	ENST00000540098	p.His575Arg	Missense Variant	0	0	0	rs778166162
10-28343003-T-A	ENST00000337532	p.Leu574Phe	Missense Variant	0	0	0	rs749644652
10-28343003-T-A	ENST00000375719	p.Leu574Phe	Missense Variant	0	0	0	rs749644652
10-28343003-T-A	ENST00000375732	p.Leu574Phe	Missense Variant	0	0	0	rs749644652
10-28343003-T-A	ENST00000540098	p.Leu574Phe	Missense Variant	0	0	0	rs749644652
10-28343006-C-G	ENST00000337532	p.Trp573Cys	Missense Variant	0	0	0	rs200132907
10-28343006-C-G	ENST00000375719	p.Trp573Cys	Missense Variant	0	0	0	rs200132907
10-28343006-C-G	ENST00000375732	p.Trp573Cys	Missense Variant	0	0	0	rs200132907
10-28343006-C-G	ENST00000540098	p.Trp573Cys	Missense Variant	0	0	0	rs200132907
10-28343012-C-CA	ENST00000337532	p.Ser572GlufsTer18	Frameshift Variant	1	31408	0.000032	rs1260403369	lc_lof
10-28343012-C-CA	ENST00000375719	p.Ser572GlufsTer?	Frameshift Variant	1	31408	0.000032	rs1260403369	lc_lof
10-28343012-C-CA	ENST00000375732	p.Ser572GlufsTer18	Frameshift Variant	1	31408	0.000032	rs1260403369	lc_lof
10-28343012-C-CA	ENST00000540098	p.Ser572GlufsTer18	Frameshift Variant	1	31408	0.000032	rs1260403369	lc_lof
10-28343018-C-T	ENST00000337532	p.Val569Val	Synonymous Variant	0	0	0	rs774697542
10-28343018-C-T	ENST00000375719	p.Val569Val	Synonymous Variant	0	0	0	rs774697542
10-28343018-C-T	ENST00000375732	p.Val569Val	Synonymous Variant	0	0	0	rs774697542
10-28343018-C-T	ENST00000540098	p.Val569Val	Synonymous Variant	0	0	0	rs774697542

Showing 1 to 20 of 1,976 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
MPP7	Q5T2T1	Phosphorylation	10	S10-p	ALSTGSGsDTGLYEL	65.52	23127079
MPP7	Q5T2T1	Phosphorylation	113	T113-p	ALLSVHDtVAQKNYD	65.52	23127082
MPP7	Q5T2T1	Ubiquitination	245	K245-ub	DYNPNEDkAIPCKEA	65.52	964527802
MPP7	Q5T2T1	Ubiquitination	311	K311-ub	EILVQPLkVsNRKSS	65.52	63727214
MPP7	Q5T2T1	Methylation	311	K311-m1	EILVQPLkVsNRKSS	65.52	57986619
MPP7	Q5T2T1	Phosphorylation	313	S313-p	LVQPLkVsNRKSSGF	65.52	31854783
MPP7	Q5T2T1	Phosphorylation	323	S323-p	KSSGFRKsFRLsRKD	65.52	3895152
MPP7	Q5T2T1	Phosphorylation	327	S327-p	FRKsFRLsRKDKKTN	65.52	31082717
MPP7	Q5T2T1	Ubiquitination	342	K342-ub	KSMYECKkSDQYDTA	65.52	964527804
MPP7	Q5T2T1	Phosphorylation	354	Y354-p	DTADVPTyEEVTPYR	65.52	3426453
MPP7	Q5T2T1	Ubiquitination	387	K387-ub	GLNELKRkLLISDTQ	65.52	22247645
MPP7	Q5T2T1	Phosphorylation	409	S409-p	HTTRARRsQESDGVE	65.52	3205710
MPP7	Q5T2T1	Phosphorylation	417	Y417-p	QESDGVEyIFISKHL	65.52	462115
MPP7	Q5T2T1	Ubiquitination	433	K433-ub	ETDVQNNkFIEyGEy	65.52	21179154
MPP7	Q5T2T1	Phosphorylation	437	Y437-p	QNNkFIEyGEyKNNy	65.52	12000509
MPP7	Q5T2T1	Phosphorylation	440	Y440-p	kFIEyGEyKNNyYGT	65.52	12000508
MPP7	Q5T2T1	Phosphorylation	444	Y444-p	yGEyKNNyYGTSIDS	65.52	10887910
MPP7	Q5T2T1	Phosphorylation	476	T476-p	HTVKHLRtLEFKPyV	65.52	50783844
MPP7	Q5T2T1	Phosphorylation	482	Y482-p	RtLEFKPyVIFIKPP	65.52	50783848
MPP7	Q5T2T1	Phosphorylation	490	S490-p	VIFIKPPsIERLRET	65.52	2509199

Showing 1 to 20 of 24 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

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
MPP7	ENST00000337532	AOCS-085-1-2	ovary	carcinoma	29598985	c.-132+3153T>C	p.?	Unknown	NEUTRAL	.00998	Confirmed somatic variant	PMID: N/A	NS	0
MPP7	ENST00000337532	TCGA-51-4080-01	lung	carcinoma	29596819	c.1242T>A	p.G414=	Substitution - coding silent	NEUTRAL	.08319	Confirmed somatic variant	PMID: N/A	primary	414
MPP7	ENST00000337532	TCGA-GF-A2C7-01	skin	malignant_melanoma	29600637	c.400G>A	p.E134K	Substitution - Missense	PATHOGENIC	.99011	Confirmed somatic variant	PMID: N/A	NS	134
MPP7	ENST00000337532	TCGA-DU-A5TP-01	central_nervous_system	glioma	29602126	c.974G>A	p.R325H	Substitution - Missense	PATHOGENIC	.92287	Confirmed somatic variant	PMID: N/A	NS	325
MPP7	ENST00000337532	YUZINO	skin	malignant_melanoma	29599977	c.448G>A	p.G150R	Substitution - Missense	PATHOGENIC	.95985	Confirmed somatic variant	PMID: 22842228	metastasis	150
MPP7	ENST00000337532	LP6008280-DNA_A02	oesophagus	carcinoma	29604311	c.-131-5492C>T	p.?	Unknown	NEUTRAL	.01181	Confirmed somatic variant	PMID: N/A	primary	0
MPP7	ENST00000337532	98-372L	prostate	carcinoma	29604019	c.1298+2T>A	p.?	Unknown	PATHOGENIC	.99827	Confirmed somatic variant	PMID: 26928463	metastasis	0
MPP7	ENST00000337532	YUZINO	skin	malignant_melanoma	29604357	c.1612C>T	p.L538F	Substitution - Missense	PATHOGENIC	.95143	Confirmed somatic variant	PMID: 22842228	metastasis	538
MPP7	ENST00000337532	SB_07	pancreas	carcinoma	29603812	c.371dup	p.P125Sfs*4	Insertion - Frameshift			Confirmed somatic variant	PMID: 26962861	metastasis	125
MPP7	ENST00000337532	SB_07	pancreas	carcinoma	29603807	c.520G>C	p.D174H	Substitution - Missense	PATHOGENIC	.93789	Confirmed somatic variant	PMID: 26962861	metastasis	174
MPP7	ENST00000337532	8066067	pancreas	carcinoma	29602478	c.952+2929A>T	p.?	Unknown	NEUTRAL	.07875	Confirmed somatic variant	PMID: N/A	NS	0
MPP7	ENST00000337532	RK054_C01	liver	carcinoma	29596661	c.157-1029del	p.?	Unknown			Variant of unknown origin	PMID: N/A	primary	0
MPP7	ENST00000337532	442-02-5TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	29600391	c.-235+2984C>T	p.?	Unknown	NEUTRAL	.01125	Confirmed somatic variant	PMID: 21642962	primary	0
MPP7	ENST00000337532	CPCG0336-F1	prostate	carcinoma	29597586	c.157-4844dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
MPP7	ENST00000337532	T_CCA_TH_12	biliary_tract	carcinoma	29597823	c.157-23169del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
MPP7	ENST00000337532	tumor_4178518	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	29603092	c.1205-1842C>A	p.?	Unknown	NEUTRAL	.0147	Confirmed somatic variant	PMID: N/A	primary	0
MPP7	ENST00000337532	DN14011	breast	carcinoma	29602185	c.316-140C>G	p.?	Unknown	NEUTRAL	.09896	Confirmed somatic variant	PMID: N/A	primary	0
MPP7	ENST00000337532	T_CCA_SG_15	biliary_tract	carcinoma	29596801	c.37+16368del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
MPP7	ENST00000337532	TCGA-VS-A959-01	cervix	carcinoma	29605368	c.382G>A	p.E128K	Substitution - Missense	PATHOGENIC	.98874	Confirmed somatic variant	PMID: N/A	primary	128
MPP7	ENST00000337532	RK107_C01	liver	carcinoma	29596844	c.1407+741_1407+744del	p.?	Unknown			Variant of unknown origin	PMID: N/A	primary	0

Showing 1 to 20 of 2,735 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
PF00018	SH3_1	SH3 domain	234-290	CL0010	SH3	Homo sapiens
PF00595	PDZ	PDZ domain	139-217	CL0466	PDZ-like	Homo sapiens
PF00625	Guanylate_kin	Guanylate kinase	367-562	CL0023	P-loop_NTPase	Homo sapiens
PF02828	L27	L27 domain	73-124	CL0614	L27	Homo sapiens
PF02828	L27	L27 domain	15-67	CL0614	L27	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Drug abuse	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
Drug habituation	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
Drug Use Disorders	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
Organic Mental Disorders, Substance-Induced	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
Substance Dependence	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
Substance Use Disorders	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
Substance-Related Disorders	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
Substance abuse problem	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
Drug Dependence	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
Prescription Drug Abuse	Chemically-Induced Disorders ; Mental Disorders ;	0.799	0.172
NO RESULT FOUND

Description:	menage a trois [Source:FlyBase;Acc:FBgn0050021]
Synonyms:	met, CG30021, Bgn0050021, skf, Dmel_CG30021, CG18338, Metro, Dmel\CG30021, CG13219, skiff
Other ID(s):	FBgn0050021
Protein Accession Numbers:	NP_610642, NP_001137642, NP_001286309, NP_001137643
Statistics:	ClinVar(1) gnomAD(1976) COSMIC(2735) PTM(24)

Classification of Clinicial Significance of ClinVar Data