ConVarT

ClinVar Data

Show entries

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

Protein Altering Variant

Splice Region Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
4-954411-C-T	ENST00000273814	p.Arg942Arg	Synonymous Variant	0	0	0	rs1414875708
4-954412-C-G	ENST00000273814	p.Arg942Thr	Missense Variant	0	0	0	rs769787190
4-954419-C-A	ENST00000273814	p.Asp940Tyr	Missense Variant	0	0	0	rs572800869
4-954419-C-T	ENST00000273814	p.Asp940Asn	Missense Variant	0	0	0	rs572800869
4-954420-G-A	ENST00000273814	p.Ser939Ser	Synonymous Variant	1	31330	0.000032	rs765918344
4-954421-C-A	ENST00000273814	p.Ser939Ile	Missense Variant	0	0	0	rs1410370074
4-954422-T-C	ENST00000273814	p.Ser939Gly	Missense Variant	22	31304	0.000703	rs112411212
4-954422-T-TC	ENST00000273814	p.Ser939GlufsTer4	Frameshift Variant	0	0	0	rs112411212	lc_lof
4-954425-CAG-C	ENST00000273814	p.Pro937ArgfsTer5	Frameshift Variant	2	31344	0.000064	rs752762706	lc_lof
4-954426-A-G	ENST00000273814	p.Pro937Pro	Synonymous Variant	0	0	0	rs759254355
4-954430-G-C	ENST00000273814	p.Ala936Gly	Missense Variant	0	0	0	rs1446726754
4-954434-G-A	ENST00000273814	p.Pro935Ser	Missense Variant	0	0	0	rs1284252654
4-954435-C-T	ENST00000273814	p.Ala934Ala	Synonymous Variant	2	31310	0.000064	rs767253967
4-954436-G-A	ENST00000273814	p.Ala934Val	Missense Variant	1	31324	0.000032	rs762121542
4-954437-C-T	ENST00000273814	p.Ala934Thr	Missense Variant	0	0	0	rs1272965091
4-954440-C-T	ENST00000273814	p.Ala933Thr	Missense Variant	0	0	0	rs1341829644
4-954442-T-C	ENST00000273814	p.Asp932Gly	Missense Variant	0	0	0	rs762265749
4-954442-T-G	ENST00000273814	p.Asp932Ala	Missense Variant	3	31308	0.000096	rs762265749
4-954444-C-T	ENST00000273814	p.Ala931Ala	Synonymous Variant	1	31316	0.000032	rs376247716
4-954445-G-A	ENST00000273814	p.Ala931Val	Missense Variant	2	31312	0.000064	rs758768735

Showing 1 to 20 of 1,266 entries

Previous1 2 3 4 5…64Next

Post-translational Modifications (PTMs)

Methylation

Phosphorylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
DGKQ	P52824	Phosphorylation	17	S17-p	RAWLGGGsPRPGsPA	101.15	4738351
DGKQ	P52824	Ubiquitination	202	K202-ub	ARCEVCRkTCGSSDV	101.15	573765508
DGKQ	P52824	Phosphorylation	22	S22-p	GGsPRPGsPACsPVL	101.15	484917
DGKQ	P52824	Ubiquitination	258	K258-ub	LLPGGFSkTQSFRIV	101.15	573765510
DGKQ	P52824	Phosphorylation	26	S26-p	RPGsPACsPVLGSGG	101.15	484918
DGKQ	P52824	Ubiquitination	297	K297-ub	QATPESGkQTLKIFD	101.15	964510054
DGKQ	P52824	Phosphorylation	376	S376-p	VISEEGRsPGSGEAT	101.15	27447307
DGKQ	P52824	Ubiquitination	400	K400-ub	PRAQEVLkIYPGWLK	101.15	573765512
DGKQ	P52824	Phosphorylation	412	Y412-p	WLKVGVAyVSVRVTP	101.15	3729388
DGKQ	P52824	Methylation	51	R51-m1	GPERAGVrAPGPAAA	101.15	57736104
DGKQ	P52824	Phosphorylation	835	T835-p	LWGSDSDtRFEKPRM	101.15	23098747

Showing 1 to 11 of 11 entries

Previous1Next

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
DGKQ	ENST00000273814	TCGA-EE-A3AG-06	skin	malignant_melanoma	23117236	c.2096C>T	p.S699F	Substitution - Missense	NEUTRAL	.2705	Confirmed somatic variant	PMID: N/A	NS	699
DGKQ	ENST00000273814	TCGA-94-8491-01	lung	carcinoma	23119494	c.945C>G	p.R315=	Substitution - coding silent	NEUTRAL	.02363	Confirmed somatic variant	PMID: N/A	primary	315
DGKQ	ENST00000273814	2014_Lung_sq_100_T	lung	carcinoma	23117997	c.1367-107C>A	p.?	Unknown	NEUTRAL	.0536	Confirmed somatic variant	PMID: N/A	primary	0
DGKQ	ENST00000273814	2014_Lung_sq_100_T	lung	carcinoma	23115963	c.927G>A	p.V309=	Substitution - coding silent	NEUTRAL	.14265	Confirmed somatic variant	PMID: N/A	primary	309
DGKQ	ENST00000273814	W10T	thyroid	carcinoma	23118694	c.208A>G	p.K70E	Substitution - Missense		.52794	Confirmed somatic variant	PMID: N/A	primary	70
DGKQ	ENST00000273814	RD	soft_tissue	rhabdomyosarcoma	23116386	c.1015C>A	p.P339T	Substitution - Missense	NEUTRAL	.0172	Variant of unknown origin	PMID: 24793135	NS	339
DGKQ	ENST00000273814	8066067	pancreas	carcinoma	23116322	c.272-802C>T	p.?	Unknown	NEUTRAL	.04971	Confirmed somatic variant	PMID: N/A	NS	0
DGKQ	ENST00000273814	11M	skin	malignant_melanoma	23118418	c.808C>T	p.P270S	Substitution - Missense	PATHOGENIC	.83363	Confirmed somatic variant	PMID: 26343386	NS	270
DGKQ	ENST00000273814	T368	large_intestine	carcinoma	23118992	c.2771G>T	p.G924V	Substitution - Missense	NEUTRAL	.19767	Confirmed somatic variant	PMID: 25344691	NS	924
DGKQ	ENST00000273814	BD114T	biliary_tract	carcinoma	23116691	c.2463-21G>A	p.?	Unknown	NEUTRAL	.03282	Confirmed somatic variant	PMID: N/A	primary	0
DGKQ	ENST00000273814	CHG-12-01579T	liver	other	23115620	c.1887-56G>A	p.?	Unknown	NEUTRAL	.04841	Confirmed somatic variant	PMID: N/A	primary	0
DGKQ	ENST00000273814	H1573	lung	carcinoma	23117126	c.862G>A	p.E288K	Substitution - Missense	NEUTRAL	.08647	Variant of unknown origin	PMID: 29681454	NS	288
DGKQ	ENST00000273814	2014_Lung_sq_102_T	lung	carcinoma	23117944	c.*96C>T	p.?	Unknown	NEUTRAL	.00937	Confirmed somatic variant	PMID: N/A	primary	0
DGKQ	ENST00000273814	ESO-610	oesophagus	carcinoma	23115983	c.887G>A	p.G296E	Substitution - Missense	PATHOGENIC	.82677	Variant of unknown origin	PMID: 23525077	primary	296
DGKQ	ENST00000273814	CHG-10-51040T	liver	other	23118706	c.1661G>A	p.R554Q	Substitution - Missense	PATHOGENIC	.93611	Confirmed somatic variant	PMID: N/A	primary	554
DGKQ	ENST00000273814	ACINAR08	pancreas	carcinoma	23116538	c.2592dup	p.L865Afs*45	Insertion - Frameshift			Confirmed somatic variant	PMID: 24293293	primary	865
DGKQ	ENST00000273814	CN-AML-08-T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	23117540	c.2315+35G>A	p.?	Unknown	NEUTRAL	.01399	Confirmed somatic variant	PMID: N/A	primary	0
DGKQ	ENST00000273814	TCGA-BS-A0UA-01	endometrium	carcinoma	23116186	c.834C>T	p.D278=	Substitution - coding silent	NEUTRAL	.00938	Variant of unknown origin	PMID: N/A	primary	278
DGKQ	ENST00000273814	TCGA-WQ-A9G7-01	liver	carcinoma	23117403	c.1512C>T	p.G504=	Substitution - coding silent	NEUTRAL	.0099	Confirmed somatic variant	PMID: N/A	primary	504
DGKQ	ENST00000273814	TCGA-BR-8487-01	stomach	carcinoma	23116235	c.2608C>T	p.R870W	Substitution - Missense	PATHOGENIC	.95359	Confirmed somatic variant	PMID: N/A	NS	870

Showing 1 to 20 of 222 entries

Previous1 2 3 4 5…12Next

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
PF00130	C1_1	Phorbol esters/diacylglycerol binding domain (C1 domain)	184-237	CL0006	C1	Homo sapiens
PF00130	C1_1	Phorbol esters/diacylglycerol binding domain (C1 domain)	61-110	CL0006	C1	Homo sapiens
PF00781	DAGK_cat	Diacylglycerol kinase catalytic domain	588-712	CL0240	PFK	Homo sapiens
PF00788	RA	Ras association (RalGDS/AF-6) domain	395-494	CL0072	Ubiquitin	Homo sapiens
PF00609	DAGK_acc	Diacylglycerol kinase accessory domain	741-893	CL0701	NAD_kinase_C	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Disorders of Sex Development	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ;	0.886	0.207
Sicca Syndrome	Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.886	0.207
Sjogren's Syndrome	Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.886	0.207
NO RESULT FOUND

Description:	diacylglycerol kinase theta [Source:HGNC Symbol;Acc:HGNC:2856]
Synonyms:	DAGK, DAGK7, DAGK4
Other ID(s):	ENSG00000145214, HGNC:2856
Protein Accession Numbers:	ENST00000509465, ENST00000515182, ENST00000273814, ENST00000510286, NP_001338
Statistics:	ClinVar(3) gnomAD(1266) COSMIC(222) PTM(11)

Classification of Clinicial Significance of ClinVar Data