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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: 10025

FusionGeneSummary for DIRC2_DDT

check button Fusion gene summary
Fusion gene informationFusion gene name: DIRC2_DDT
Fusion gene ID: 10025
HgeneTgene
Gene symbol

DIRC2

DDT

Gene ID

84925

1652

Gene namedisrupted in renal carcinoma 2D-dopachrome tautomerase
SynonymsRCC4D-DT|DDCT|MIF-2|MIF2
Cytomap

3q21.1

22q11.23

Type of geneprotein-codingprotein-coding
Descriptiondisrupted in renal carcinoma protein 2disrupted in renal cancer protein 2renal cell carcinoma 4D-dopachrome decarboxylasephenylpyruvate tautomerase II
Modification date2018052320180519
UniProtAcc

Q96SL1

P30046

Ensembl transtripts involved in fusion geneENST00000261038, ENST00000398344, 
ENST00000350608, ENST00000404092, 
ENST00000403754, ENST00000430101, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 2=18
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DIRC2 [Title/Abstract] AND DDT [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
TgeneDDT

GO:0010760

negative regulation of macrophage chemotaxis

21817065

TgeneDDT

GO:0032760

positive regulation of tumor necrosis factor production

21817065


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
TCGARVPRADTCGA-EJ-A7NH-01ADIRC2chr3

122525797

+DDTchr22

24313812

-
* 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
In-frameENST00000261038ENST00000398344DIRC2chr3

122525797

+DDTchr22

24313812

-
Frame-shiftENST00000261038ENST00000350608DIRC2chr3

122525797

+DDTchr22

24313812

-
Frame-shiftENST00000261038ENST00000404092DIRC2chr3

122525797

+DDTchr22

24313812

-
5CDS-intronENST00000261038ENST00000403754DIRC2chr3

122525797

+DDTchr22

24313812

-
5CDS-intronENST00000261038ENST00000430101DIRC2chr3

122525797

+DDTchr22

24313812

-

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FusionProtFeatures for DIRC2_DDT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DIRC2

Q96SL1

DDT

P30046

Electrogenic metabolite transporter.{ECO:0000269|PubMed:21692750}. Tautomerization of D-dopachrome with decarboxylation togive 5,6-dihydroxyindole (DHI).

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
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29111_117145479Topological domainCytoplasmic
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+291_51145479Topological domainCytoplasmic
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+2973_89145479Topological domainLumenal
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29118_138145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+2952_72145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+2990_110145479TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29139_155145479Topological domainLumenal
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29177_184145479Topological domainCytoplasmic
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29206_229145479Topological domainLumenal
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29251_281145479Topological domainCytoplasmic
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29303_314145479Topological domainLumenal
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29336_347145479Topological domainCytoplasmic
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29369_384145479Topological domainLumenal
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29406_414145479Topological domainCytoplasmic
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29436_442145479Topological domainLumenal
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29464_478145479Topological domainCytoplasmic
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29156_176145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29185_205145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29230_250145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29282_302145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29315_335145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29348_368145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29385_405145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29415_435145479TransmembraneHelical
HgeneDIRC2chr3:122525797chr22:24313812ENST00000261038+29443_463145479TransmembraneHelical


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FusionGeneSequence for DIRC2_DDT


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.
>In-frame_DIRC2_ENST00000261038_chr3_122525797_+_DDT_ENST00000398344_chr22_24313812_-_170aa
MGSRWSSEEERQPLLGPGLGPGLGASWRSREAAAAALPAAVPGPGRVYGRRWLVLLLFSLLAFVQGLVWNTWGPIQNSARQAYGFSSWDI


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_DIRC2_ENST00000261038_chr3_122525797_+_DDT_ENST00000398344_chr22_24313812_-_510nt
ATGGGCTCTCGCTGGAGCAGCGAAGAGGAGAGGCAGCCGCTGCTGGGGCCCGGGCTCGGGCCTGGGCTGGGGGCCTCCTGGAGAAGCCGG
GAGGCGGCGGCGGCGGCGCTGCCCGCGGCGGTCCCGGGTCCCGGGCGGGTATACGGGCGCCGCTGGCTGGTGCTGCTGCTCTTCTCGCTG
CTGGCGTTCGTTCAGGGCCTGGTCTGGAACACCTGGGGTCCCATCCAGAACTCGGCGCGCCAGGCCTACGGCTTCTCCAGCTGGGACATC
GCGCTGCTCGTGCTGTGGGGGCCCATCGGCTTCCTGCCCTGCTTCGCGTTCATGTGGCTCCTGGACAAGAGAGGTCTCCGGATAACTGTG
CTCCTGACATCCTTCCTTATGGTTTTGGGAACTGGTCTAAGATGCATACCTATATCAGACTTAATCCTTAAAAGAAGGATACTTATCCGC


* Fusion transcript sequences (Full-length transcript).
>In-frame_DIRC2_ENST00000261038_chr3_122525797_+_DDT_ENST00000398344_chr22_24313812_-_1094nt
TTTAACTTGGACACTTCCTCCAAACACCCCAGGGTTCCTTGCCCAACCTCCTCGAATACAGCCTCTCTGGGAGTTTCCCTCTCCCCGACT
CAGCCGCGCTGGTCCCTGCCTTTTCAGCGCTACCTGCCCTCCGTCTGGGACCTGGCTCCTTTCCTCTCGCCGGTGTTTCCTCGCCACCCG
CGGAGGGGAGGGCGGACCCCAGCCTCCTTGCCGCCTGCCCCGCCTCCCCGCCTCCCCGCCGGCCCGGCTCGGGCCGCGCAGGCGCACCAG
GCGCGGTCCGGAGGCCGAGGGCGACCACAGCAGCCTCCGCCTCCTGCTGCTCAGGACTATTCTGCGCTGGGCTAGTCGGCGGTGACCCGG
ACTGCGCCCGGCAGTGGCTTCGCGGGCGACGCGTCGCCATGGGCTCTCGCTGGAGCAGCGAAGAGGAGAGGCAGCCGCTGCTGGGGCCCG
GGCTCGGGCCTGGGCTGGGGGCCTCCTGGAGAAGCCGGGAGGCGGCGGCGGCGGCGCTGCCCGCGGCGGTCCCGGGTCCCGGGCGGGTAT
ACGGGCGCCGCTGGCTGGTGCTGCTGCTCTTCTCGCTGCTGGCGTTCGTTCAGGGCCTGGTCTGGAACACCTGGGGTCCCATCCAGAACT
CGGCGCGCCAGGCCTACGGCTTCTCCAGCTGGGACATCGCGCTGCTCGTGCTGTGGGGGCCCATCGGCTTCCTGCCCTGCTTCGCGTTCA
TGTGGCTCCTGGACAAGAGAGGTCTCCGGATAACTGTGCTCCTGACATCCTTCCTTATGGTTTTGGGAACTGGTCTAAGATGCATACCTA
TATCAGACTTAATCCTTAAAAGAAGGATACTTATCCGCTTTTTCCCCTTGGAGTCCTGGCAGATTGGCAAGATAGGGACGGTCATGACTT
TTTTATGATTGGGCACGGAGGGATCCAGGGCATCTGTGAACTGGCTGCTTCTTCCAGAGAGATCTCTTGGCAGAGTGAGGGCCTGGAGAT
AACCAGCTTTGGATTATCCCGCATGCAACATTCCTGTGATCACATAATCCTCTTCTTCATCCTCATATGAAATAAATGAAGAGAGCTTCC


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FusionGenePPI for DIRC2_DDT


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
DIRC2UPK1ADDTDSTYK, HECW2


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 DIRC2_DDT


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 DIRC2_DDT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource