|
Fusion gene ID: 21365 |
FusionGeneSummary for MDK_RABGAP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MDK_RABGAP1 | Fusion gene ID: 21365 | Hgene | Tgene | Gene symbol | MDK | RABGAP1 | Gene ID | 4192 | 23637 |
Gene name | midkine | RAB GTPase activating protein 1 | |
Synonyms | ARAP|MK|NEGF2 | GAPCENA|TBC1D11 | |
Cytomap | 11p11.2 | 9q33.2-q33.3 | |
Type of gene | protein-coding | protein-coding | |
Description | midkineamphiregulin-associated proteinmidgestation and kidney proteinneurite growth-promoting factor 2neurite outgrowth-promoting factor 2retinoic acid inducible factor | rab GTPase-activating protein 1GAP and centrosome-associated proteinRab6 GTPase activating protein, GAPCenATBC1 domain family, member 11rab6 GTPase activating protein (GAP and centrosome-associated)rab6 GTPase-activating protein GAPCenA | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P21741 | Q9Y3P9 | |
Ensembl transtripts involved in fusion gene | ENST00000405308, ENST00000359803, ENST00000395569, ENST00000395566, ENST00000533283, ENST00000407067, ENST00000395565, | ENST00000373647, ENST00000493854, ENST00000373643, | |
Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 5 X 5 X 2=50 |
# samples | 5 | 5 | |
** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 | |
Context | PubMed: MDK [Title/Abstract] AND RABGAP1 [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 | RABGAP1 | GO:0043087 | regulation of GTPase activity | 17562788 |
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 |
ChiTaRS3.1 | AI364889 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
* 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 |
3UTR-intron | ENST00000405308 | ENST00000373647 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000405308 | ENST00000493854 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000405308 | ENST00000373643 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000359803 | ENST00000373647 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000359803 | ENST00000493854 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000359803 | ENST00000373643 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000395569 | ENST00000373647 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000395569 | ENST00000493854 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000395569 | ENST00000373643 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000395566 | ENST00000373647 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000395566 | ENST00000493854 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000395566 | ENST00000373643 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
intron-intron | ENST00000533283 | ENST00000373647 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
intron-intron | ENST00000533283 | ENST00000493854 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
intron-intron | ENST00000533283 | ENST00000373643 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000407067 | ENST00000373647 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000407067 | ENST00000493854 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000407067 | ENST00000373643 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000395565 | ENST00000373647 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000395565 | ENST00000493854 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
3UTR-intron | ENST00000395565 | ENST00000373643 | MDK | chr11 | 46405189 | - | RABGAP1 | chr9 | 125796573 | - |
Top |
FusionProtFeatures for MDK_RABGAP1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MDK | RABGAP1 |
Developmentally regulated, secreted growth factorhomologous to pleiotrophin (PTN), which has heparin bindingactivity. Binds anaplastic lymphoma kinase (ALK) which induces ALKactivation and subsequent phosphorylation of the insulin receptorsubstrate (IRS1), followed by the activation of mitogen-activatedprotein kinase (MAPK) and PI3-kinase, and the induction of cellproliferation. Involved in neointima formation after arterialinjury, possibly by mediating leukocyte recruitment. Also involvedin early fetal adrenal gland development (By similarity).{ECO:0000250, ECO:0000269|PubMed:12122009,ECO:0000269|PubMed:1768439}. | May act as a GTPase-activating protein of RAB6A. Mayplay a role in microtubule nucleation by centrosome. Mayparticipate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition. {ECO:0000269|PubMed:10202141,ECO:0000269|PubMed:16395330}. |
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 |
- 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 |
Top |
FusionGeneSequence for MDK_RABGAP1 |
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). |
Top |
FusionGenePPI for MDK_RABGAP1 |
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 |
- 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 MDK_RABGAP1 |
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 MDK_RABGAP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MDK | C0003469 | Anxiety Disorders | 1 | CTD_human |
Hgene | MDK | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
Hgene | MDK | C0017638 | Glioma | 1 | CTD_human |
Hgene | MDK | C0025261 | Memory Disorders | 1 | CTD_human |
Hgene | MDK | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | MDK | C0345967 | Malignant mesothelioma | 1 | CTD_human |