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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for TET2

check button Gene summary
Gene informationGene symbol

TET2

Gene ID

54790

Gene nametet methylcytosine dioxygenase 2
SynonymsKIAA1546|MDS
Cytomap

4q24

Type of geneprotein-coding
Descriptionmethylcytosine dioxygenase TET2probable methylcytosine dioxygenase TET2tet oncogene family member 2
Modification date20180523
UniProtAcc

Q6N021

ContextPubMed: TET2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
TET2

GO:0006211

5-methylcytosine catabolic process

24315485

TET2

GO:0006493

protein O-linked glycosylation

23222540

TET2

GO:0080111

DNA demethylation

24315485


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Exon skipping events across known transcript of Ensembl for TET2 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for TET2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for TET2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4253724106068042:106068136:106111516:106111643:106155053:106158114106111516:106111643ENSG00000168769.8ENST00000545826.1,ENST00000540549.1,ENST00000513237.1
exon_skip_4253734106068089:106068136:106111516:106111662:106155053:106155429106111516:106111662ENSG00000168769.8ENST00000265149.5,ENST00000380013.4,ENST00000394764.1
exon_skip_4253844106111516:106111662:106155053:106158508:106162495:106162586106155053:106158508ENSG00000168769.8ENST00000380013.4
exon_skip_4253854106111516:106111662:106155053:106158508:106163990:106164084106155053:106158508ENSG00000168769.8ENST00000265149.5
exon_skip_4253934106155053:106158508:106162495:106162586:106163990:106164084106162495:106162586ENSG00000168769.8ENST00000380013.4,ENST00000540549.1,ENST00000513237.1
exon_skip_4254004106163990:106164084:106164726:106164935:106180775:106180926106164726:106164935ENSG00000168769.8ENST00000545826.1,ENST00000265149.5,ENST00000380013.4,ENST00000540549.1,ENST00000513237.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for TET2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4253734106068089:106068136:106111516:106111662:106155053:106155429106111516:106111662ENSG00000168769.8ENST00000380013.4,ENST00000265149.5,ENST00000394764.1
exon_skip_4253844106111516:106111662:106155053:106158508:106162495:106162586106155053:106158508ENSG00000168769.8ENST00000380013.4
exon_skip_4253854106111516:106111662:106155053:106158508:106163990:106164084106155053:106158508ENSG00000168769.8ENST00000265149.5
exon_skip_4253934106155053:106158508:106162495:106162586:106163990:106164084106162495:106162586ENSG00000168769.8ENST00000513237.1,ENST00000540549.1,ENST00000380013.4
exon_skip_4254004106163990:106164084:106164726:106164935:106180775:106180926106164726:106164935ENSG00000168769.8ENST00000513237.1,ENST00000540549.1,ENST00000545826.1,ENST00000380013.4,ENST00000265149.5

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for TET2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003800131061550531061585085CDS-5UTR
ENST000003800131061115161061116625UTR-5UTR
ENST000005405491061115161061116435UTR-5UTR
ENST00000380013106162495106162586Frame-shift
ENST00000540549106162495106162586Frame-shift
ENST00000380013106164726106164935Frame-shift
ENST00000540549106164726106164935Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003800131061550531061585085CDS-5UTR
ENST000003800131061115161061116625UTR-5UTR
ENST00000380013106162495106162586Frame-shift
ENST00000540549106162495106162586Frame-shift
ENST00000380013106164726106164935Frame-shift
ENST00000540549106164726106164935Frame-shift

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Infer the effects of exon skipping event on protein functional features for TET2

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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SNVs in the skipped exons for TET2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
UCECTCGA-D1-A17A-01exon_skip_425385
exon_skip_425384
106155054106158508106155403106155404Frame_Shift_DelTC-p.S104fs
UCECTCGA-D1-A17A-01exon_skip_425385
exon_skip_425384
106155054106158508106155403106155404Frame_Shift_DelTC-p.S123fs
LIHCTCGA-G3-A3CJ-01exon_skip_425385
exon_skip_425384
106155054106158508106155499106155499Frame_Shift_DelG-p.G134fs
STADTCGA-CG-4306-01exon_skip_425385
exon_skip_425384
106155054106158508106155661106155661Frame_Shift_DelA-p.G187fs
STADTCGA-CG-4306-01exon_skip_425385
exon_skip_425384
106155054106158508106155661106155661Frame_Shift_DelA-p.G208fs
LIHCTCGA-G3-A3CJ-01exon_skip_425385
exon_skip_425384
106155054106158508106156759106156759Frame_Shift_DelC-p.P555fs
LIHCTCGA-G3-A3CJ-01exon_skip_425385
exon_skip_425384
106155054106158508106156936106156936Frame_Shift_DelG-p.G614fs
LIHCTCGA-DD-A1EG-01exon_skip_425385
exon_skip_425384
106155054106158508106157065106157065Frame_Shift_DelC-p.P656fs
COADTCGA-AZ-4615-01exon_skip_425385
exon_skip_425384
106155054106158508106157183106157186Frame_Shift_DelTGTC-p.695_696del
UCSTCGA-N5-A4RN-01exon_skip_425385
exon_skip_425384
106155054106158508106157271106157271Frame_Shift_DelT-p.H724fs
LIHCTCGA-DD-A1EG-01exon_skip_425385
exon_skip_425384
106155054106158508106157462106157462Frame_Shift_DelA-p.E788fs
KIRCTCGA-AK-3429-01exon_skip_425385
exon_skip_425384
106155054106158508106157564106157565Frame_Shift_DelCC-p.822_822del
LIHCTCGA-DD-A3A0-01exon_skip_425385
exon_skip_425384
106155054106158508106157657106157657Frame_Shift_DelT-p.L874fs
LIHCTCGA-G3-A3CJ-01exon_skip_425385
exon_skip_425384
106155054106158508106157939106157939Frame_Shift_DelA-p.Q947fs
DLBCTCGA-FF-8062-01exon_skip_425385
exon_skip_425384
106155054106158508106158250106158259Frame_Shift_DelCAGAAGCAAG-p.1050_1053del
LGGTCGA-DU-6392-01exon_skip_425385
exon_skip_425384
106155054106158508106158447106158447Frame_Shift_DelA-p.I1137fs
LIHCTCGA-G3-A3CJ-01exon_skip_425400
106164727106164935106164773106164773Frame_Shift_DelG-p.R1214fs
LIHCTCGA-CC-A3M9-01exon_skip_425385
exon_skip_425384
106155054106158508106155167106155168Frame_Shift_Ins-Tp.H23fs
LIHCTCGA-CC-A3M9-01exon_skip_425385
exon_skip_425384
106155054106158508106155167106155168Frame_Shift_Ins-Tp.P23fs
LIHCTCGA-CC-A3M9-01exon_skip_425385
exon_skip_425384
106155054106158508106155168106155169Frame_Shift_Ins-CAp.L24fs
LIHCTCGA-CC-A3M9-01exon_skip_425385
exon_skip_425384
106155054106158508106155168106155169Frame_Shift_Ins-CAp.P23fs
READTCGA-EI-6511-01exon_skip_425385
exon_skip_425384
106155054106158508106155778106155779Frame_Shift_Ins-Ap.E227fs
ESCATCGA-LN-A8HZ-01exon_skip_425385
exon_skip_425384
106155054106158508106156651106156652Frame_Shift_Ins-Tp.G520fs
LUSCTCGA-34-5927-01exon_skip_425385
exon_skip_425384
106155054106158508106156934106156935Frame_Shift_Ins-Tp.P633fs
LIHCTCGA-BC-A112-01exon_skip_425385
exon_skip_425384
106155054106158508106157384106157385Frame_Shift_Ins-Cp.P762fs
STADTCGA-CG-5723-01exon_skip_425385
exon_skip_425384
106155054106158508106157548106157549Frame_Shift_Ins-Cp.S817fs
STADTCGA-CG-5723-01exon_skip_425385
exon_skip_425384
106155054106158508106157549106157550Frame_Shift_Ins-Cp.S838fs
UCECTCGA-AX-A05Z-01exon_skip_425385
exon_skip_425384
106155054106158508106155340106155340Nonsense_MutationGTp.E81*
UCECTCGA-A5-A0GV-01exon_skip_425385
exon_skip_425384
106155054106158508106155367106155367Nonsense_MutationCTp.Q111*
LUADTCGA-17-Z003-01exon_skip_425385
exon_skip_425384
106155054106158508106155397106155397Nonsense_MutationGTp.E121*
PAADTCGA-FB-AAQ2-01exon_skip_425385
exon_skip_425384
106155054106158508106155430106155430Nonsense_MutationATp.K111*
READTCGA-EI-6917-01exon_skip_425385
exon_skip_425384
106155054106158508106155544106155544Nonsense_MutationGTp.E149X
BLCATCGA-BT-A20Q-01exon_skip_425385
exon_skip_425384
106155054106158508106156625106156625Nonsense_MutationCGp.S509*
UCECTCGA-A5-A0VP-01exon_skip_425385
exon_skip_425384
106155054106158508106156729106156729Nonsense_MutationCTp.R544*
HNSCTCGA-CV-A6JT-01exon_skip_425385
exon_skip_425384
106155054106158508106156747106156747Nonsense_MutationCTp.R571*
HNSCTCGA-CR-7388-01exon_skip_425385
exon_skip_425384
106155054106158508106156786106156786Nonsense_MutationGTp.G563*
HNSCTCGA-CN-5366-01exon_skip_425385
exon_skip_425384
106155054106158508106156862106156862Nonsense_MutationCAp.S588*
HNSCTCGA-CN-5366-01exon_skip_425385
exon_skip_425384
106155054106158508106156862106156862Nonsense_MutationCAp.S609*
PAADTCGA-IB-8126-01exon_skip_425385
exon_skip_425384
106155054106158508106157130106157130Nonsense_MutationTAp.C677*
LGGTCGA-TM-A84O-01exon_skip_425385
exon_skip_425384
106155054106158508106157155106157155Nonsense_MutationATp.R707*
CESCTCGA-C5-A7UC-01exon_skip_425385
exon_skip_425384
106155054106158508106157306106157306Nonsense_MutationCGp.S736*
READTCGA-F5-6814-01exon_skip_425385
exon_skip_425384
106155054106158508106157446106157446Nonsense_MutationGTp.E783X
KIRPTCGA-GL-6846-01exon_skip_425385
exon_skip_425384
106155054106158508106157461106157461Nonsense_MutationGTp.E788*
KIRPTCGA-GL-6846-01exon_skip_425385
exon_skip_425384
106155054106158508106157461106157461Nonsense_MutationGTp.E788X
KIRPTCGA-GL-6846-01exon_skip_425385
exon_skip_425384
106155054106158508106157461106157461Nonsense_MutationGTp.E809*
HNSCTCGA-BA-A6DF-01exon_skip_425385
exon_skip_425384
106155054106158508106157590106157590Nonsense_MutationCTp.Q852*
LUADTCGA-44-A47A-01exon_skip_425385
exon_skip_425384
106155054106158508106158268106158268Nonsense_MutationGTp.E1078*
STADTCGA-CD-5813-01exon_skip_425385
exon_skip_425384
106155054106158508106158510106158510Splice_SiteTCp.E1137_splice
UCECTCGA-AX-A06H-01exon_skip_425393
106162496106162586106162494106162494Splice_SiteACe2-2
UCECTCGA-AX-A06H-01exon_skip_425393
106162496106162586106162494106162494Splice_SiteACp.E1158_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
TGBC11TKB_STOMACH106155054106158508106156321106156321Frame_Shift_DelC-p.P411fs
CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106156485106156485Frame_Shift_DelT-p.S462fs
CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106156786106156789Frame_Shift_DelGGAT-p.GW563fs
HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106156879106156879Frame_Shift_DelC-p.P594fs
SISO_CERVIX106155054106158508106156936106156936Frame_Shift_DelG-p.G614fs
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106156936106156936Frame_Shift_DelG-p.G614fs
GOTO_AUTONOMIC_GANGLIA106155054106158508106157097106157097Frame_Shift_DelC-p.D666fs
HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106158300106158303Frame_Shift_DelACAA-p.RQ1067fs
NCIBL1437_MATCHED_NORMAL_TISSUE106164727106164935106164791106164791Frame_Shift_DelC-p.T1220fs
DU145_PROSTATE106155054106158508106155778106155779Frame_Shift_Ins-Ap.E227fs
LS411N_LARGE_INTESTINE106155054106158508106155778106155779Frame_Shift_Ins-Ap.E227fs
MZ1B_MATCHED_NORMAL_TISSUE106155054106158508106156042106156043Frame_Shift_Ins-Ap.S315fs
NCIH1694_LUNG106155054106158508106156276106156277Frame_Shift_Ins-Cp.S393fs
SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106158218106158219Frame_Shift_Ins-Ap.F1041fs
HS936T_SKIN106155054106158508106155146106155146Missense_MutationCTp.P16L
EN_ENDOMETRIUM106155054106158508106155274106155274Missense_MutationAGp.S59G
SNU1040_LARGE_INTESTINE106155054106158508106155386106155386Missense_MutationGAp.R96H
HEC108_ENDOMETRIUM106155054106158508106155431106155431Missense_MutationAGp.K111R
NCIH661_LUNG106155054106158508106155466106155466Missense_MutationCTp.R123C
SKNDZ_AUTONOMIC_GANGLIA106155054106158508106155467106155467Missense_MutationGAp.R123H
SW684_SOFT_TISSUE106155054106158508106155502106155502Missense_MutationGAp.E135K
A2058_SKIN106155054106158508106155514106155514Missense_MutationCTp.P139S
A2058_SKIN106155054106158508106155514106155515Missense_MutationCCTTp.P139L
A2058_SKIN106155054106158508106155515106155515Missense_MutationCTp.P139L
EKVX_LUNG106155054106158508106155518106155518Missense_MutationAGp.N140S
SNU81_LARGE_INTESTINE106155054106158508106155928106155928Missense_MutationGAp.A277T
NCIH1573_LUNG106155054106158508106156019106156019Missense_MutationTGp.L307R
NCIBL209_MATCHED_NORMAL_TISSUE106155054106158508106156019106156019Missense_MutationTGp.L307R
NCIH209_LUNG106155054106158508106156019106156019Missense_MutationTGp.L307R
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106156139106156139Missense_MutationCTp.A347V
MON_SOFT_TISSUE106155054106158508106156171106156171Missense_MutationAGp.S358G
SNUC2A_LARGE_INTESTINE106155054106158508106156196106156196Missense_MutationGTp.S366I
KYM1_SOFT_TISSUE106155054106158508106156255106156255Missense_MutationGTp.V386L
HEC50B_ENDOMETRIUM106155054106158508106156271106156271Missense_MutationCTp.S391F
IOMMLEE_CENTRAL_NERVOUS_SYSTEM106155054106158508106156337106156337Missense_MutationCAp.P413Q
RH28_SOFT_TISSUE106155054106158508106156430106156430Missense_MutationCTp.T444I
OVSAHO_OVARY106155054106158508106156468106156468Missense_MutationGTp.A457S
U2OS_BONE106155054106158508106156493106156493Missense_MutationCTp.P465L
COV362_OVARY106155054106158508106156520106156520Missense_MutationCTp.P474L
SKMEL5_SKIN106155054106158508106156529106156529Missense_MutationCTp.S477F
SW684_SOFT_TISSUE106155054106158508106156535106156535Missense_MutationGAp.R479K
NCIH2172_LUNG106155054106158508106156546106156546Missense_MutationAGp.N483D
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106156811106156811Missense_MutationGAp.R571H
NCIH2591_PLEURA106155054106158508106156841106156841Missense_MutationGAp.R581H
KYSE410_OESOPHAGUS106155054106158508106156895106156895Missense_MutationAGp.Q599R
JHH1_LIVER106155054106158508106156895106156895Missense_MutationAGp.Q599R
HS274T_BREAST106155054106158508106156973106156973Missense_MutationCTp.T625I
JHH6_LIVER106155054106158508106157066106157066Missense_MutationCGp.P656R
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106157072106157072Missense_MutationACp.H658P
RKO_LARGE_INTESTINE106155054106158508106157132106157132Missense_MutationGAp.G678D
TCCSUP_URINARY_TRACT106155054106158508106157180106157180Missense_MutationTGp.L694R
CCK81_LARGE_INTESTINE106155054106158508106157182106157182Missense_MutationAGp.M695V
VMCUB1_URINARY_TRACT106155054106158508106157196106157196Missense_MutationGTp.L699F
TE9_OESOPHAGUS106155054106158508106157212106157212Missense_MutationCGp.Q705E
SW1088_CENTRAL_NERVOUS_SYSTEM106155054106158508106157219106157219Missense_MutationCAp.A707D
QGP1_PANCREAS106155054106158508106157435106157435Missense_MutationCGp.T779S
LNCAPCLONEFGC_PROSTATE106155054106158508106157482106157482Missense_MutationAGp.S795G
AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106157485106157485Missense_MutationGAp.E796K
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106157521106157521Missense_MutationGAp.E808K
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106157592106157592Missense_MutationGTp.Q831H
22RV1_PROSTATE106155054106158508106157650106157650Missense_MutationCTp.P851S
MDAMB453_BREAST106155054106158508106157740106157740Missense_MutationAGp.R881G
HMVII_SKIN106155054106158508106158448106158448Missense_MutationAGp.K1117E
CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106158503106158503Missense_MutationGAp.C1135Y
HCC2450_LUNG106162496106162586106162516106162516Missense_MutationGAp.E1144K
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106162496106162586106162529106162529Missense_MutationAGp.Y1148C
SNUC4_LARGE_INTESTINE106164727106164935106164773106164773Missense_MutationGAp.R1214Q
DMS53_LUNG106164727106164935106164890106164890Missense_MutationGCp.R1253T
MELJUSO_SKIN106164727106164935106164913106164913Missense_MutationCTp.R1261C
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106164727106164935106164914106164914Missense_MutationGAp.R1261H
EBC1_LUNG106155054106158508106155902106155902Nonsense_MutationCAp.S268*
HCC1954_MATCHED_NORMAL_TISSUE106155054106158508106156480106156480Nonsense_MutationCTp.Q461*
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106155054106158508106157573106157573Nonsense_MutationCAp.S825*
CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106164727106164935106164897106164897Nonsense_MutationCAp.Y1255*
MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE106164727106164935106164897106164897Nonsense_MutationCAp.Y1255*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TET2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TET2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TET2


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RelatedDrugs for TET2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TET2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TET2C0079774Peripheral T-Cell Lymphoma2CTD_human
TET2C0007134Renal Cell Carcinoma1CTD_human
TET2C0020981Angioimmunoblastic Lymphadenopathy1CTD_human
TET2C0023487Acute Promyelocytic Leukemia1CTD_human
TET2C0027643Neoplasm Recurrence, Local1CTD_human
TET2C0033578Prostatic Neoplasms1CTD_human
TET2C0036920Sezary Syndrome1CTD_human
TET2C3463824MYELODYSPLASTIC SYNDROME1CTD_human;HPO