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Fusion gene ID: 1024 |
FusionGeneSummary for AFF4_DTWD2 |
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Fusion gene information | Fusion gene name: AFF4_DTWD2 | Fusion gene ID: 1024 | Hgene | Tgene | Gene symbol | AFF4 | DTWD2 | Gene ID | 27125 | 285605 |
Gene name | AF4/FMR2 family member 4 | DTW domain containing 2 | |
Synonyms | AF5Q31|CHOPS|MCEF | - | |
Cytomap | 5q31.1 | 5q23.1 | |
Type of gene | protein-coding | protein-coding | |
Description | AF4/FMR2 family member 4ALL1-fused gene from chromosome 5q31 proteinmajor CDK9 elongation factor-associated protein | DTW domain-containing protein 2 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9UHB7 | Q8NBA8 | |
Ensembl transtripts involved in fusion gene | ENST00000265343, ENST00000378595, ENST00000491831, | ENST00000304058, ENST00000510708, ENST00000515439, | |
Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 7 X 6 X 4=168 |
# samples | 5 | 7 | |
** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AFF4 [Title/Abstract] AND DTWD2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | LD | PRAD | TCGA-CH-5744-01A | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-3CDS | ENST00000265343 | ENST00000304058 | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
5UTR-3CDS | ENST00000265343 | ENST00000510708 | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
5UTR-3CDS | ENST00000265343 | ENST00000515439 | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
5UTR-3CDS | ENST00000378595 | ENST00000304058 | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
5UTR-3CDS | ENST00000378595 | ENST00000510708 | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
5UTR-3CDS | ENST00000378595 | ENST00000515439 | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
5UTR-3CDS | ENST00000491831 | ENST00000304058 | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
5UTR-3CDS | ENST00000491831 | ENST00000510708 | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
5UTR-3CDS | ENST00000491831 | ENST00000515439 | AFF4 | chr5 | 132298951 | - | DTWD2 | chr5 | 118183913 | - |
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FusionProtFeatures for AFF4_DTWD2 |
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Hgene | Tgene |
AFF4 | DTWD2 |
Key component of the super elongation complex (SEC), acomplex required to increase the catalytic rate of RNA polymeraseII transcription by suppressing transient pausing by thepolymerase at multiple sites along the DNA. In the SEC complex,AFF4 acts as a central scaffold that recruits other factorsthrough direct interactions with ELL proteins (ELL, ELL2 or ELL3)and the P-TEFb complex. In case of infection by HIV-1 virus, theSEC complex is recruited by the viral Tat protein to stimulateviral gene expression. {ECO:0000269|PubMed:20159561,ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:23251033}. |
![]() * 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 |
- 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 |
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FusionGeneSequence for AFF4_DTWD2 |
![]() (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 AFF4_DTWD2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
AFF4 | TRAF2, SIAH1, CDK9, CCNT1, MLLT3, MLLT1, AFF1, KMT2A, ELL2, SPP1, GRK5, MED26, MED19, EAF1, ELL, EAF2, CCNT2, CDK15, HECW2, AP2B1, GOLGA2, MTUS2, FAM9A, HEXIM1, ELL3, EDA, DENND2D, RXRB, CTR9, CNOT1, PIP4K2A, CAMKV, MDK, PES1, ARRB2, RSBN1, EPB41L5, PBX2, TRIM25 | DTWD2 | MFAP3, POLE, FREM2, PCDH7, PC, TUBB8, CBWD1, ERBB2, PEX1, FAT3, CELSR2, CCRN4L |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for AFF4_DTWD2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for AFF4_DTWD2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | AFF4 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
Hgene | AFF4 | C0009241 | Cognition Disorders | 1 | CTD_human |
Hgene | AFF4 | C0018273 | Growth Disorders | 1 | CTD_human |
Hgene | AFF4 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
Hgene | AFF4 | C0024115 | Lung diseases | 1 | CTD_human |
Hgene | AFF4 | C0028754 | Obesity | 1 | CTD_human;HPO |
Hgene | AFF4 | C0282631 | Facies | 1 | CTD_human |
Hgene | AFF4 | C4085597 | CHOPS SYNDROME | 1 | ORPHANET;UNIPROT |