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Fusion gene ID: 38377 |
FusionGeneSummary for TMEM119_GAK |
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Fusion gene information | Fusion gene name: TMEM119_GAK | Fusion gene ID: 38377 | Hgene | Tgene | Gene symbol | TMEM119 | GAK | Gene ID | 338773 | 2580 |
Gene name | transmembrane protein 119 | cyclin G associated kinase | |
Synonyms | OBIF | DNAJ26|DNAJC26 | |
Cytomap | 12q23.3 | 4p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | transmembrane protein 119osteoblast induction factor | cyclin-G-associated kinaseauxilin-2 | |
Modification date | 20180329 | 20180523 | |
UniProtAcc | Q4V9L6 | O14976 | |
Ensembl transtripts involved in fusion gene | ENST00000392806, | ENST00000314167, ENST00000511163, ENST00000509566, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 5 X 4=80 |
# samples | 1 | 4 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/80*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TMEM119 [Title/Abstract] AND GAK [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | TMEM119 | GO:0030501 | positive regulation of bone mineralization | 20025746 |
Hgene | TMEM119 | GO:0033690 | positive regulation of osteoblast proliferation | 20025746 |
Hgene | TMEM119 | GO:0045669 | positive regulation of osteoblast differentiation | 20025746 |
Tgene | GAK | GO:0010977 | negative regulation of neuron projection development | 24510904 |
![]() (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 | BI015039 | TMEM119 | chr12 | 108985352 | + | GAK | chr4 | 905553 | + |
* 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 |
intron-3CDS | ENST00000392806 | ENST00000314167 | TMEM119 | chr12 | 108985352 | + | GAK | chr4 | 905553 | + |
intron-intron | ENST00000392806 | ENST00000511163 | TMEM119 | chr12 | 108985352 | + | GAK | chr4 | 905553 | + |
intron-intron | ENST00000392806 | ENST00000509566 | TMEM119 | chr12 | 108985352 | + | GAK | chr4 | 905553 | + |
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FusionProtFeatures for TMEM119_GAK |
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Hgene | Tgene |
TMEM119 | GAK |
Plays an important role in bone formation and normalbone mineralization. Promotes the differentiation of myoblastsinto osteoblasts (PubMed:20025746). May induce the commitment anddifferentiation of myoblasts into osteoblasts through anenhancement of BMP2 production and interaction with the BMP-RUNX2pathway. Upregulates the expression of ATF4, a transcriptionfactor which plays a central role in osteoblast differentiation.Essential for normal spermatogenesis and late testiculardifferentiation (By similarity). {ECO:0000250|UniProtKB:Q8R138,ECO:0000269|PubMed:20025746}. | Associates with cyclin G and CDK5. Seems to act as anauxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expressionoscillates slightly during the cell cycle, peaking at G1.{ECO:0000269|PubMed:10625686}. |
![]() * 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 TMEM119_GAK |
![]() (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 TMEM119_GAK |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 TMEM119_GAK |
![]() (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 TMEM119_GAK |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | GAK | C0030567 | Parkinson Disease | 1 | CTD_human |