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

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
20-62694667-T-G	ENST00000343484	p.Met1?	Start Lost	1	30950	0.000032	rs1316342529
20-62694671-G-A	ENST00000343484	p.Met2Ile	Missense Variant	0	0	0	rs1317749753
20-62694674-C-T	ENST00000343484	p.Gly3Gly	Synonymous Variant	0	0	0	rs1345823040
20-62694675-A-C	ENST00000343484	p.Lys4Gln	Missense Variant	0	0	0	rs540313866
20-62694677-G-A	ENST00000343484	p.Lys4Lys	Synonymous Variant	0	0	0	rs1299900099
20-62694690-G-A	ENST00000343484	p.Ala9Thr	Missense Variant	0	0	0	rs1343554393
20-62694693-C-G	ENST00000343484	p.Arg10Gly	Missense Variant	0	0	0	rs1222744671
20-62694698-C-T	ENST00000343484	p.Ile11Ile	Synonymous Variant	0	0	0	rs1275193676
20-62694701-C-T	ENST00000343484	p.Ala12Ala	Synonymous Variant	1	31228	0.000032	rs748316892
20-62694702-C-A	ENST00000343484	p.Arg13Arg	Synonymous Variant	1	31188	0.000032	rs769731700
20-62694702-C-G	ENST00000343484	p.Arg13Gly	Missense Variant	0	0	0	rs769731700
20-62694702-C-T	ENST00000343484	p.Arg13Trp	Missense Variant	0	0	0	rs769731700
20-62694703-G-A	ENST00000343484	p.Arg13Gln	Missense Variant	0	0	0	rs1282943337
20-62694704-G-A	ENST00000343484	p.Arg13Arg	Synonymous Variant	0	0	0	rs773820158
20-62694707-G-A	ENST00000343484	p.Arg14Arg	Synonymous Variant	0	0	0	rs749763855
20-62694708-C-T	ENST00000343484	p.Leu15Leu	Synonymous Variant	0	0	0	rs1267460607
20-62694712-A-G	ENST00000343484	p.Asp16Gly	Missense Variant	0	0	0	rs1490320572
20-62694713-C-G	ENST00000343484	p.Asp16Glu	Missense Variant	0	0	0	rs1200083892
20-62694714-A-G	ENST00000343484	p.Lys17Glu	Missense Variant	0	0	0	rs1248770709
20-62694715-A-C	ENST00000343484	p.Lys17Thr	Missense Variant	0	0	0	rs1018996274

Showing 1 to 20 of 283 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
TCEA2	Q15560	Phosphorylation	104	S104-p	PtSSRDAsEAPDPsR	33.6	18914147
TCEA2	Q15560	Phosphorylation	110	S110-p	AsEAPDPsRKRPELP	33.6	18016686
TCEA2	Q15560	Phosphorylation	121	S121-p	PELPRAPstPRItTF	33.6	23151389
TCEA2	Q15560	Phosphorylation	122	T122-p	ELPRAPstPRItTFP	33.6	15448954
TCEA2	Q15560	Phosphorylation	126	T126-p	APstPRItTFPPVPV	33.6	23151395
TCEA2	Q15560	Ubiquitination	184	K184-ub	DVGNTDMkYKNRVRS	33.6	603486290
TCEA2	Q15560	Acetylation	197	K197-ac	RSRISNLkDAKNPDL	33.6	41519997
TCEA2	Q15560	Phosphorylation	20	T20-p	RRLDKMVtKKsAEGA	33.6	18016683
TCEA2	Q15560	Phosphorylation	23	S23-p	DKMVtKKsAEGAMDL	33.6	25313689
TCEA2	Q15560	Ubiquitination	240	K240-ub	EIRKAMTkEAIREHQ	33.6	964549464
TCEA2	Q15560	Phosphorylation	260	T260-p	GTQTDLFtCGKCRKK	33.6	36127507
TCEA2	Q15560	Phosphorylation	40	T40-p	ELKAMPItLHLLQST	33.6	23151398
TCEA2	Q15560	Phosphorylation	52	S52-p	QSTRVGMsVNALRkQ	33.6	23151392
TCEA2	Q15560	Ubiquitination	58	K58-ub	MsVNALRkQSSDEEV	33.6	3135212
TCEA2	Q15560	Ubiquitination	70	K70-ub	EEVIALAkSLIKSWK	33.6	964549466
TCEA2	Q15560	Acetylation	70	K70-ac	EEVIALAkSLIKSWK	33.6	15296432
TCEA2	Q15560	Phosphorylation	83	S83-p	WKKLLDAsDAKARER	33.6	25313686
TCEA2	Q15560	Methylation	92	R92-m1	AKARERGrGMPLPtS	33.6	48885417
TCEA2	Q15560	Phosphorylation	98	T98-p	GrGMPLPtSSRDAsE	33.6	34349377

Showing 1 to 19 of 19 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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
TCEA2	ENST00000343484	ESCC_25	oesophagus	carcinoma	28660472	c.507G>C	p.Q169H	Substitution - Missense	PATHOGENIC	.84807	Confirmed somatic variant	PMID: 26873401	NS	169
TCEA2	ENST00000343484	TCGA-3B-A9HY-01	soft_tissue	sarcoma	28661048	c.278G>A	p.G93D	Substitution - Missense	NEUTRAL	.02869	Confirmed somatic variant	PMID: N/A	primary	93
TCEA2	ENST00000343484	TCGA-3B-A9HY-01	soft_tissue	sarcoma	28661041	c.277G>A	p.G93S	Substitution - Missense	NEUTRAL	.05384	Confirmed somatic variant	PMID: N/A	primary	93
TCEA2	ENST00000343484	OSCC-GB_01060111	upper_aerodigestive_tract	carcinoma	28661722	c.760A>T	p.T254S	Substitution - Missense	PATHOGENIC	.94903	Confirmed somatic variant	PMID: N/A	primary	254
TCEA2	ENST00000343484	S02120_1	lung	carcinoma	28660034	c.323A>G	p.D108G	Substitution - Missense	NEUTRAL	.27603	Confirmed somatic variant	PMID: 26168399	primary	108
TCEA2	ENST00000343484	2014_Lung_sq_102_T	lung	carcinoma	28659954	c.461-26A>C	p.?	Unknown	NEUTRAL	.00504	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2	ENST00000343484	CPCG0472-F1	prostate	carcinoma	28659870	c.73-509T>C	p.?	Unknown	NEUTRAL	.00782	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2	ENST00000343484	TCGA-AA-3492-01	large_intestine	carcinoma	28661001	c.38G>A	p.R13Q	Substitution - Missense	NEUTRAL	.37425	Confirmed somatic variant	PMID: N/A	NS	13
TCEA2	ENST00000343484	ESCC_140	oesophagus	carcinoma	28659740	c.445G>A	p.A149T	Substitution - Missense	PATHOGENIC	.96614	Confirmed somatic variant	PMID: 26873401	NS	149
TCEA2	ENST00000343484	TNKTL18	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	28660193	c.241+161G>A	p.?	Unknown	NEUTRAL	.03394	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2	ENST00000343484	CN-AML-08-T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	28660100	c.892-35C>T	p.?	Unknown	NEUTRAL	.16275	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2	ENST00000343484	PD6042a	breast	carcinoma	28661267	c.819+275G>A	p.?	Unknown	NEUTRAL	.0945	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2	ENST00000343484	TCGA-EB-A6QY-01	skin	malignant_melanoma	28660810	c.582C>T	p.S194=	Substitution - coding silent	NEUTRAL	.41031	Confirmed somatic variant	PMID: N/A	NS	194
TCEA2	ENST00000343484	TCGA-BR-8487-01	stomach	carcinoma	28660185	c.517+6C>A	p.?	Unknown	PATHOGENIC	.95898	Confirmed somatic variant	PMID: N/A	NS	0
TCEA2	ENST00000343484	TCGA-44-2656-01	lung	carcinoma	28660234	c.76G>T	p.G26*	Substitution - Nonsense	PATHOGENIC	.95217	Variant of unknown origin	PMID: N/A	primary	26
TCEA2	ENST00000343484	TCGA-EB-A5FP-01	skin	malignant_melanoma	28661801	c.518-80C>T	p.?	Unknown	NEUTRAL	.00965	Confirmed somatic variant	PMID: N/A	NS	0
TCEA2	ENST00000343484	GCTK_345_T	stomach	carcinoma	28660203	c.358C>T	p.P120S	Substitution - Missense	NEUTRAL	.32192	Confirmed somatic variant	PMID: N/A	primary	120
TCEA2	ENST00000343484	0194_CRUK_PC_0194_T1_DNA	prostate	carcinoma	28661011	c.820-278C>T	p.?	Unknown	NEUTRAL	.00981	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2	ENST00000343484	TCGA-55-A48X-01	lung	carcinoma	28661529	c.518-40A>C	p.?	Unknown	NEUTRAL	.08702	Confirmed somatic variant	PMID: N/A	NS	0
TCEA2	ENST00000343484	GCYC_146_T	stomach	carcinoma	28660830	c.-23C>T	p.?	Unknown	NEUTRAL	.11292	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 104 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
PF01096	TFIIS_C	Transcription factor S-II (TFIIS)	259-297	CL0167	Zn_Beta_Ribbon	Homo sapiens
PF07500	TFIIS_M	Transcription factor S-II (TFIIS), central domain	134-246			Homo sapiens
PF08711	Med26	TFIIS helical bundle-like domain	29-80			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.799	0.138
Acute Myeloid Leukemia, M1	Neoplasms ;	0.799	0.138
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.799	0.138
NO RESULT FOUND

Description:	transcription elongation factor A2 [Source:HGNC Symbol;Acc:HGNC:11614]
Synonyms:	TFIIS
Other ID(s):	HGNC:11614, ENSG00000171703
Protein Accession Numbers:	ENST00000395053, ENST00000339217, NP_942016, ENST00000440819, ENST00000361317, NP_003186, ENST00000415602, ENST00000343484, ENST00000458442
Statistics:	gnomAD(283) COSMIC(104) PTM(19)

Classification of Clinicial Significance of ClinVar Data