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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 37605

FusionGeneSummary for TCF7L2_MAML3

check button Fusion gene summary
Fusion gene informationFusion gene name: TCF7L2_MAML3
Fusion gene ID: 37605
HgeneTgene
Gene symbol

TCF7L2

MAML3

Gene ID

6934

55534

Gene nametranscription factor 7 like 2mastermind like transcriptional coactivator 3
SynonymsTCF-4|TCF4CAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3|mam-3
Cytomap

10q25.2-q25.3

4q31.1

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor 7-like 2HMG box transcription factor 4T-cell factor 4T-cell-specific transcription factor 4hTCF-4transcription factor 7-like 2 (T-cell specific, HMG-box)mastermind-like protein 3CAG repeat containing (glia-derived nexin I alpha)expanded repeat domain, CAG/CTG 3polyglutamine richtrinucleotide repeat containing 3
Modification date2018052720180524
UniProtAcc

Q9NQB0

Q96JK9

Ensembl transtripts involved in fusion geneENST00000534894, ENST00000536810, 
ENST00000545257, ENST00000355995, 
ENST00000543371, ENST00000355717, 
ENST00000538897, ENST00000349937, 
ENST00000369397, ENST00000352065, 
ENST00000369395, ENST00000542695, 
ENST00000369389, ENST00000369386, 
ENST00000466338, 		ENST00000509479, 
ENST00000327122, ENST00000398940, 
Fusion gene scores* DoF score9 X 7 X 10=6307 X 4 X 4=112
# samples 1514
** MAII scorelog2(15/630*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/112*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TCF7L2 [Title/Abstract] AND MAML3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTCF7L2

GO:0000122

negative regulation of transcription by RNA polymerase II

12799378

HgeneTCF7L2

GO:0006357

regulation of transcription by RNA polymerase II

9727977

HgeneTCF7L2

GO:0032092

positive regulation of protein binding

12799378

HgeneTCF7L2

GO:0032350

regulation of hormone metabolic process

15525634

HgeneTCF7L2

GO:0042593

glucose homeostasis

15525634

HgeneTCF7L2

GO:0043433

negative regulation of DNA binding transcription factor activity

12799378

HgeneTCF7L2

GO:0045444

fat cell differentiation

10937998

HgeneTCF7L2

GO:0045892

negative regulation of transcription, DNA-templated

12799378|15525634

HgeneTCF7L2

GO:0045944

positive regulation of transcription by RNA polymerase II

9065401|19168596

HgeneTCF7L2

GO:0048625

myoblast fate commitment

10937998

TgeneMAML3

GO:0007219

Notch signaling pathway

12370315

TgeneMAML3

GO:0045944

positive regulation of transcription by RNA polymerase II

12370315


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDPCPGTCGA-WB-A80Y-01ATCF7L2chr18

52921728

-MAML3chr4

140812121

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000534894ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000534894ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000534894ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000536810ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000536810ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000536810ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000545257ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000545257ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000545257ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000355995ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000355995ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000355995ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000543371ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000543371ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000543371ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000355717ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000355717ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000355717ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000538897ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000538897ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000538897ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000349937ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000349937ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000349937ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000369397ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000369397ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000369397ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000352065ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000352065ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000352065ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000369395ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000369395ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000369395ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000542695ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000542695ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000542695ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000369389ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000369389ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000369389ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000369386ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000369386ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000369386ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000466338ENST00000509479TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-3CDSENST00000466338ENST00000327122TCF7L2chr18

52921728

-MAML3chr4

140812121

-
intron-intronENST00000466338ENST00000398940TCF7L2chr18

52921728

-MAML3chr4

140812121

-

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FusionProtFeatures for TCF7L2_MAML3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TCF7L2

Q9NQB0

MAML3

Q96JK9

Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TCF7L2_MAML3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TCF7L2_MAML3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
TCF7L2NLK, JUP, PSEN1, DAZAP2, CTNNB1, CTBP1, PARP1, XRCC6, XRCC5, ELAVL1, MAD2L2, ZBTB33, DAXX, FBLN1, UBE2I, PSMA3, PML, MEN1, USP4, HBP1, AR, FUS, CDC73, RNF138, HIC1, EP300, SMAD7, SETD8, LEF1, RNF43, TLE3, XIAP, IKZF5, PRMT6, UHRF2MAML3MAML1, NOTCH1, NFX1, SUPT5H, RAI1, ZBTB1, SCMH1, ZZZ3, RBPJ


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TCF7L2_MAML3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TCF7L2_MAML3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTCF7L2C0036341Schizophrenia4PSYGENET
HgeneTCF7L2C0009404Colorectal Neoplasms2CTD_human
HgeneTCF7L2C0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
HgeneTCF7L2C0001418Adenocarcinoma1CTD_human
HgeneTCF7L2C0005586Bipolar Disorder1PSYGENET
HgeneTCF7L2C0009375Colonic Neoplasms1CTD_human
HgeneTCF7L2C0020507Hyperplasia1CTD_human
HgeneTCF7L2C0036337Schizoaffective Disorder1PSYGENET
HgeneTCF7L2C3495559Juvenile arthritis1CTD_human
TgeneMAML3C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneMAML3C0018798Congenital Heart Defects1CTD_human
TgeneMAML3C1261473Sarcoma1CTD_human
TgeneMAML3C1710096Sinonasal undifferentiated carcinoma1CTD_human