|
Fusion gene ID: 10025 |
FusionGeneSummary for DIRC2_DDT |
Fusion gene summary |
Fusion gene information | Fusion gene name: DIRC2_DDT | Fusion gene ID: 10025 | Hgene | Tgene | Gene symbol | DIRC2 | DDT | Gene ID | 84925 | 1652 |
Gene name | disrupted in renal carcinoma 2 | D-dopachrome tautomerase | |
Synonyms | RCC4 | D-DT|DDCT|MIF-2|MIF2 | |
Cytomap | 3q21.1 | 22q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | disrupted in renal carcinoma protein 2disrupted in renal cancer protein 2renal cell carcinoma 4 | D-dopachrome decarboxylasephenylpyruvate tautomerase II | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q96SL1 | P30046 | |
Ensembl transtripts involved in fusion gene | ENST00000261038, | ENST00000398344, ENST00000350608, ENST00000404092, ENST00000403754, ENST00000430101, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 2=18 |
# samples | 2 | 3 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | DDT | GO:0010760 | negative regulation of macrophage chemotaxis | 21817065 |
Tgene | DDT | GO:0032760 | positive regulation of tumor necrosis factor production | 21817065 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | PRAD | TCGA-EJ-A7NH-01A | DIRC2 | chr3 | 122525797 | + | DDT | chr22 | 24313812 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000261038 | ENST00000398344 | DIRC2 | chr3 | 122525797 | + | DDT | chr22 | 24313812 | - |
Frame-shift | ENST00000261038 | ENST00000350608 | DIRC2 | chr3 | 122525797 | + | DDT | chr22 | 24313812 | - |
Frame-shift | ENST00000261038 | ENST00000404092 | DIRC2 | chr3 | 122525797 | + | DDT | chr22 | 24313812 | - |
5CDS-intron | ENST00000261038 | ENST00000403754 | DIRC2 | chr3 | 122525797 | + | DDT | chr22 | 24313812 | - |
5CDS-intron | ENST00000261038 | ENST00000430101 | DIRC2 | chr3 | 122525797 | + | DDT | chr22 | 24313812 | - |
Top |
FusionProtFeatures for DIRC2_DDT |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DIRC2 | DDT |
Electrogenic metabolite transporter.{ECO:0000269|PubMed:21692750}. | Tautomerization of D-dopachrome with decarboxylation togive 5,6-dihydroxyindole (DHI). |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 111_117 | 145 | 479 | Topological domain | Cytoplasmic |
Hgene | DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 1_51 | 145 | 479 | Topological domain | Cytoplasmic |
Hgene | DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 73_89 | 145 | 479 | Topological domain | Lumenal |
Hgene | DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 118_138 | 145 | 479 | Transmembrane | Helical |
Hgene | DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 52_72 | 145 | 479 | Transmembrane | Helical |
Hgene | DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 90_110 | 145 | 479 | Transmembrane | Helical |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 139_155 | 145 | 479 | Topological domain | Lumenal |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 177_184 | 145 | 479 | Topological domain | Cytoplasmic |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 206_229 | 145 | 479 | Topological domain | Lumenal |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 251_281 | 145 | 479 | Topological domain | Cytoplasmic |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 303_314 | 145 | 479 | Topological domain | Lumenal |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 336_347 | 145 | 479 | Topological domain | Cytoplasmic |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 369_384 | 145 | 479 | Topological domain | Lumenal |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 406_414 | 145 | 479 | Topological domain | Cytoplasmic |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 436_442 | 145 | 479 | Topological domain | Lumenal |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 464_478 | 145 | 479 | Topological domain | Cytoplasmic |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 156_176 | 145 | 479 | Transmembrane | Helical |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 185_205 | 145 | 479 | Transmembrane | Helical |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 230_250 | 145 | 479 | Transmembrane | Helical |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 282_302 | 145 | 479 | Transmembrane | Helical |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 315_335 | 145 | 479 | Transmembrane | Helical |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 348_368 | 145 | 479 | Transmembrane | Helical |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 385_405 | 145 | 479 | Transmembrane | Helical |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 415_435 | 145 | 479 | Transmembrane | Helical |
Hgene | >DIRC2 | chr3:122525797 | chr22:24313812 | ENST00000261038 | + | 2 | 9 | 443_463 | 145 | 479 | Transmembrane | Helical |
Top |
FusionGeneSequence for DIRC2_DDT |
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 |
Top |
FusionGenePPI for DIRC2_DDT |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
DIRC2 | UPK1A | DDT | DSTYK, HECW2 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for DIRC2_DDT |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for DIRC2_DDT |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |