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

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
16-2732555-G-T	ENST00000301738	p.Ala2Ala	Synonymous Variant	0	0	0	rs763445930
16-2732558-G-A	ENST00000301738	p.Glu3Glu	Synonymous Variant	0	0	0	rs753444752
16-2732559-A-G	ENST00000301738	p.Asn4Asp	Missense Variant	0	0	0	rs756854147
16-2732560-A-C	ENST00000301738	p.Asn4Thr	Missense Variant	0	0	0	rs754666221
16-2732560-A-G	ENST00000301738	p.Asn4Ser	Missense Variant	5	31322	0.00016	rs754666221
16-2732561-T-A	ENST00000301738	p.Asn4Lys	Missense Variant	0	0	0	rs758137944
16-2732564-C-A	ENST00000301738	p.His5Gln	Missense Variant	0	0	0	rs1257361538
16-2732565-T-C	ENST00000301738	p.Cys6Arg	Missense Variant	0	0	0	rs779852810
16-2732566-G-A	ENST00000301738	p.Cys6Tyr	Missense Variant	0	0	0	rs746850719
16-2732569-A-G	ENST00000301738	p.Glu7Gly	Missense Variant	0	0	0	rs754951656
16-2732570-G-A	ENST00000301738	p.Glu7Glu	Synonymous Variant	0	0	0	rs781123652
16-2732570-G-C	ENST00000301738	p.Glu7Asp	Missense Variant	0	0	0	rs781123652
16-2732571-C-T	ENST00000301738	p.Leu8Phe	Missense Variant	2	31326	0.000064	rs769878868
16-2732572-T-C	ENST00000301738	p.Leu8Pro	Missense Variant	0	0	0	rs773619021
16-2732574-C-A	ENST00000301738	p.Leu9Met	Missense Variant	1	31312	0.000032	rs201544210
16-2732574-C-T	ENST00000301738	p.Leu9Leu	Synonymous Variant	0	0	0	rs201544210
16-2732575-T-C	ENST00000301738	p.Leu9Pro	Missense Variant	0	0	0	rs901164821
16-2732576-G-A	ENST00000301738	p.Leu9Leu	Synonymous Variant	0	0	0	rs1397069315
16-2732578-C-T	ENST00000301738	p.Ser10Leu	Missense Variant	0	0	0	rs774861391
16-2732579-G-A	ENST00000301738	p.Ser10Ser	Synonymous Variant	0	0	0	rs759946209

Showing 1 to 20 of 197 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
KCTD5	Q9NXV2	Phosphorylation	10	S10-p	ENHCELLsPArGGIG	26.09	11536090
KCTD5	Q9NXV2	Ubiquitination	115	K115-ub	HGKLVINkDLAEEGV	26.09	964522320
KCTD5	Q9NXV2	Methylation	13	R13-m1	CELLsPArGGIGAGL	26.09	57694470
KCTD5	Q9NXV2	Phosphorylation	147	S147-p	DKIRERDskTSQVPV	26.09	3071787
KCTD5	Q9NXV2	Ubiquitination	148	K148-ub	KIRERDskTSQVPVk	26.09	21177364
KCTD5	Q9NXV2	Ubiquitination	155	K155-ub	kTSQVPVkHVYRVLQ	26.09	41489080
KCTD5	Q9NXV2	Phosphorylation	191	Y191-p	LVSIGSSyNyGNEDQ	26.09	479182
KCTD5	Q9NXV2	Phosphorylation	193	Y193-p	SIGSSyNyGNEDQAE	26.09	479183
KCTD5	Q9NXV2	Ubiquitination	223	K223-ub	TASEPSEkAkILQER	26.09	12325007
KCTD5	Q9NXV2	Ubiquitination	225	K225-ub	SEPSEkAkILQERGS	26.09	15492092
KCTD5	Q9NXV2	Methylation	26	R26-m1	GLGGGLCrRCsAGLG	26.09	57694473
KCTD5	Q9NXV2	Phosphorylation	29	S29-p	GGLCrRCsAGLGALA	26.09	4765263
KCTD5	Q9NXV2	Phosphorylation	41	S41-p	ALAQRPGsVSKWVRL	26.09	31854507
KCTD5	Q9NXV2	Ubiquitination	67	K67-ub	QTLCRDPkSFLYRLC	26.09	573788552

Showing 1 to 14 of 14 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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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
KCTD5	ENST00000301738	KPOPBR-072-T	breast	carcinoma	24098125	c.453+65C>T	p.?	Unknown	NEUTRAL	.01407	Confirmed somatic variant	PMID: N/A	primary	0
KCTD5	ENST00000301738	AOCS-135-3-1	ovary	carcinoma	24098360	c.*1260A>G	p.?	Unknown	NEUTRAL	.0575	Confirmed somatic variant	PMID: N/A	NS	0
KCTD5	ENST00000301738	2857126	urinary_tract	carcinoma	24099234	c.622G>A	p.E208K	Substitution - Missense	PATHOGENIC	.99006	Confirmed somatic variant	PMID: 25096233	NS	208
KCTD5	ENST00000301738	TCGA-EW-A1J5-01	breast	carcinoma	24098307	c.229G>A	p.D77N	Substitution - Missense	PATHOGENIC	.7613	Confirmed somatic variant	PMID: N/A	primary	77
KCTD5	ENST00000301738	TCGA-EW-A1J5-01	breast	carcinoma	24099311	c.198G>A	p.P66=	Substitution - coding silent	NEUTRAL	.12517	Confirmed somatic variant	PMID: N/A	primary	66
KCTD5	ENST00000301738	0047_CRUK_PC_0047_T1_DNA	prostate	carcinoma	24099345	c.253-5140C>T	p.?	Unknown	NEUTRAL	.00088	Confirmed somatic variant	PMID: N/A	primary	0
KCTD5	ENST00000301738	2014_Lung_sq_102_T	lung	carcinoma	24098125	c.453+65C>T	p.?	Unknown	NEUTRAL	.01407	Confirmed somatic variant	PMID: N/A	primary	0
KCTD5	ENST00000301738	PD14442a	breast	carcinoma	24098208	c.-68C>G	p.?	Unknown	NEUTRAL	.03941	Confirmed somatic variant	PMID: N/A	primary	0
KCTD5	ENST00000301738	LP6008269-DNA_F07	oesophagus	carcinoma	24098690	c.*1513A>T	p.?	Unknown	NEUTRAL	.02467	Confirmed somatic variant	PMID: N/A	primary	0
KCTD5	ENST00000301738	TCGA-AA-3492-01	large_intestine	carcinoma	24098912	c.533G>A	p.G178D	Substitution - Missense	PATHOGENIC	.98766	Confirmed somatic variant	PMID: N/A	NS	178
KCTD5	ENST00000301738	TCGA-A6-6648-01	large_intestine	carcinoma	24098353	c.155G>A	p.G52D	Substitution - Missense		.68411	Confirmed somatic variant	PMID: N/A	NS	52
KCTD5	ENST00000301738	TCGA-44-2656-01	lung	carcinoma	24098291	c.-49A>T	p.?	Unknown	NEUTRAL	.46459	Variant of unknown origin	PMID: N/A	primary	0
KCTD5	ENST00000301738	268T	liver	other	24098926	c.253-3313G>A	p.?	Unknown	NEUTRAL	.00101	Confirmed somatic variant	PMID: N/A	primary	0
KCTD5	ENST00000301738	TCGA-50-5933-01	lung	carcinoma	24098186	c.*44G>T	p.?	Unknown	NEUTRAL	.14089	Confirmed somatic variant	PMID: N/A	primary	0
KCTD5	ENST00000301738	0230_CRUK_PC_0230_T1_DNA	prostate	carcinoma	24099369	c.676-1491G>C	p.?	Unknown	NEUTRAL	.0208	Confirmed somatic variant	PMID: N/A	primary	0
KCTD5	ENST00000301738	TCGA-95-7947-01	lung	carcinoma	24098048	c.627G>T	p.L209=	Substitution - coding silent	PATHOGENIC	.94262	Variant of unknown origin	PMID: N/A	primary	209
KCTD5	ENST00000301738	TCGA-DA-A95Z-06	skin	malignant_melanoma	24098009	c.203C>T	p.S68F	Substitution - Missense		.62024	Confirmed somatic variant	PMID: N/A	metastasis	68
KCTD5	ENST00000301738	PD5950a	breast	carcinoma	24099551	c.253-4405C>T	p.?	Unknown	NEUTRAL	.00681	Confirmed somatic variant	PMID: N/A	primary	0
KCTD5	ENST00000301738	PD36790c	skin	malignant_melanoma	24098478	c.11A>G	p.N4S	Substitution - Missense	NEUTRAL	.19506	Variant of unknown origin	PMID: 33024263	metastasis	4
KCTD5	ENST00000301738	184	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	24098259	c.605T>C	p.L202P	Substitution - Missense	PATHOGENIC	.98041	Confirmed somatic variant	PMID: 23502782	NS	202

Showing 1 to 20 of 91 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
PF02214	BTB_2	BTB/POZ domain	46-138	CL0033	POZ	Homo sapiens

List of the diseases from DisGeNET

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

Description:	insomniac [Source:FlyBase;Acc:FBgn0025394]
Synonyms:	INC, Dmel\CG32810, CG14783, G:196F3.2, CG32810, ins, Dmel_CG32810, CG14784
Other ID(s):	FBgn0025394
Protein Accession Numbers:	NP_569926, NP_001284787, NP_001284786
Statistics:	gnomAD(197) COSMIC(91) PTM(14)

Classification of Clinicial Significance of ClinVar Data