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 Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
11-15170721-A-G	ENST00000379556	p.Met1?	Start Lost	0	0	0	rs780908879
11-15170721-A-G	ENST00000530161	p.Met1?	Start Lost	0	0	0	rs780908879
11-15170725-T-C	ENST00000379556	p.Met2Thr	Missense Variant	0	0	0	rs1256504723
11-15170725-T-C	ENST00000530161	p.Met2Thr	Missense Variant	0	0	0	rs1256504723
11-15170730-C-T	ENST00000379556	p.Leu4Leu	Synonymous Variant	0	0	0	rs747676220
11-15170730-C-T	ENST00000530161	p.Leu4Leu	Synonymous Variant	0	0	0	rs747676220
11-15170731-T-C	ENST00000379556	p.Leu4Pro	Missense Variant	0	0	0	rs755760175
11-15170731-T-C	ENST00000530161	p.Leu4Pro	Missense Variant	0	0	0	rs755760175
11-15170732-G-A	ENST00000379556	p.Leu4Leu	Synonymous Variant	0	0	0	rs1000188863
11-15170732-G-A	ENST00000530161	p.Leu4Leu	Synonymous Variant	0	0	0	rs1000188863
11-15170740-G-A	ENST00000379556	p.Gly7Asp	Missense Variant	0	0	0	rs1449652960
11-15170740-G-A	ENST00000530161	p.Gly7Asp	Missense Variant	0	0	0	rs1449652960
11-15170742-C-T	ENST00000379556	p.Arg8Cys	Missense Variant	2	31392	0.000064	rs777598307
11-15170742-C-T	ENST00000530161	p.Arg8Cys	Missense Variant	2	31392	0.000064	rs777598307
11-15170743-G-A	ENST00000379556	p.Arg8His	Missense Variant	74	31392	0.002357	rs138418543
11-15170743-G-A	ENST00000530161	p.Arg8His	Missense Variant	74	31392	0.002357	rs138418543
11-15170746-A-T	ENST00000379556	p.His9Leu	Missense Variant	1	31394	0.000032	rs1175649334
11-15170746-A-T	ENST00000530161	p.His9Leu	Missense Variant	1	31394	0.000032	rs1175649334
11-15170749-T-C	ENST00000379556	p.Leu10Pro	Missense Variant	0	0	0	rs1413104776
11-15170749-T-C	ENST00000530161	p.Leu10Pro	Missense Variant	0	0	0	rs1413104776

Showing 1 to 20 of 1,128 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
INSC	Q1MX18	Acetylation	210	K210-ac	VENEHVLkSMKACVs	63.47	9265272
INSC	Q1MX18	Phosphorylation	217	S217-p	kSMKACVsETLSMLG	63.47	23115851
INSC	Q1MX18	Phosphorylation	74	S74-p	LHLMQVDsVQRWMED	63.47	23115854

Showing 1 to 3 of 3 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
INSC_ENST00000379556	ENST00000379556	8057490	pancreas	carcinoma	40671340	c.-46+16097A>T	p.?	Unknown	NEUTRAL	.02348	Confirmed somatic variant	PMID: N/A	NS	0
INSC_ENST00000379556	ENST00000379556	W10T	thyroid	carcinoma	40667834	c.565A>G	p.T189A	Substitution - Missense	PATHOGENIC	.87296	Confirmed somatic variant	PMID: N/A	primary	189
INSC_ENST00000379556	ENST00000379556	TCGA-CR-7398-01	upper_aerodigestive_tract	carcinoma	40671629	c.1330G>C	p.A444P	Substitution - Missense	PATHOGENIC	.99241	Confirmed somatic variant	PMID: N/A	NS	444
INSC_ENST00000379556	ENST00000379556	HCC87T	liver	carcinoma	40671345	c.1393+156C>A	p.?	Unknown	NEUTRAL	.02961	Variant of unknown origin	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	PCSI_0468_Pa_P_526	pancreas	carcinoma	40670287	c.820-5436G>A	p.?	Unknown	NEUTRAL	.00802	Confirmed somatic variant	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	A1-2A	large_intestine	carcinoma	40672846	c.579+5991dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	LP6008280-DNA_A02	oesophagus	carcinoma	40672709	c.-45-9771G>A	p.?	Unknown	NEUTRAL	.24485	Confirmed somatic variant	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	DA1600B	endometrium	carcinoma	40670680	c.820-2919C>A	p.?	Unknown	NEUTRAL	.00108	Confirmed somatic variant	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	PCSI_0082_Pa_P_526	pancreas	carcinoma	40670447	c.819+6459G>A	p.?	Unknown	NEUTRAL	.03872	Confirmed somatic variant	PMID: N/A	NS	0
INSC_ENST00000379556	ENST00000379556	0154_CRUK_PC_0154_T1_DNA	prostate	carcinoma	40668269	c.-40C>T	p.?	Unknown	NEUTRAL	.00423	Confirmed somatic variant	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	DN14011	breast	carcinoma	40671382	c.1171-4645G>C	p.?	Unknown	NEUTRAL	.01348	Confirmed somatic variant	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	I2L-P28-Tumor-Organoid	large_intestine	carcinoma	40669830	c.90C>A	p.R30=	Substitution - coding silent	PATHOGENIC	.78194	Confirmed somatic variant	PMID: 25957691	NS	30
INSC_ENST00000379556	ENST00000379556	RK107_C01	liver	carcinoma	40673139	c.820-9302C>T	p.?	Unknown	NEUTRAL	.01	Variant of unknown origin	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	TCGA-AA-3660-01	large_intestine	carcinoma	40671183	c.694G>C	p.E232Q	Substitution - Missense	PATHOGENIC	.98332	Confirmed somatic variant	PMID: N/A	NS	232
INSC_ENST00000379556	ENST00000379556	tumor_4115001	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	40673286	c.56+4576G>A	p.?	Unknown	NEUTRAL	.04734	Confirmed somatic variant	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	RK107_C01	liver	carcinoma	40673137	c.-45-9709A>G	p.?	Unknown	NEUTRAL	.04506	Variant of unknown origin	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	2834130	skin	malignant_melanoma	40668042	c.1151C>A	p.T384K	Substitution - Missense	PATHOGENIC	.97713	Variant of unknown origin	PMID: 28296713	primary	384
INSC_ENST00000379556	ENST00000379556	TCGA-34-5927-01	lung	carcinoma	40670416	c.1094A>G	p.Q365R	Substitution - Missense	PATHOGENIC	.97863	Variant of unknown origin	PMID: N/A	primary	365
INSC_ENST00000379556	ENST00000379556	EOPC-169_tumor_01	prostate	carcinoma	40670702	c.-46+12045G>A	p.?	Unknown	NEUTRAL	.0008	Confirmed somatic variant	PMID: N/A	primary	0
INSC_ENST00000379556	ENST00000379556	AOCS-135-3-1	ovary	carcinoma	40669905	c.-45-7972A>G	p.?	Unknown	NEUTRAL	.04186	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 1,014 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
PF16748	INSC_LBD	Inscuteable LGN-binding domain	70-116			Homo sapiens
PF19427	Insc_C	Protein inscuteable C-terminal	127-579	CL0020	TPR	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
NO RESULT FOUND
NO RESULT FOUND

Description:	inscuteable [Source:FlyBase;Acc:FBgn0011674]
Synonyms:	INSC, Dmel_CG11312, 25/17, l(2)k12405, Ins, Dmel\CG11312, nsc, l(2)05475, fam, CG11312, nem
Other ID(s):	FBgn0011674
Protein Accession Numbers:	NP_477024
Statistics:	ClinVar(2) gnomAD(1128) COSMIC(1014) PTM(3)

Classification of Clinicial Significance of ClinVar Data