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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: 38377

FusionGeneSummary for TMEM119_GAK

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM119_GAK
Fusion gene ID: 38377
HgeneTgene
Gene symbol

TMEM119

GAK

Gene ID

338773

2580

Gene nametransmembrane protein 119cyclin G associated kinase
SynonymsOBIFDNAJ26|DNAJC26
Cytomap

12q23.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 119osteoblast induction factorcyclin-G-associated kinaseauxilin-2
Modification date2018032920180523
UniProtAcc

Q4V9L6

O14976

Ensembl transtripts involved in fusion geneENST00000392806, ENST00000314167, 
ENST00000511163, ENST00000509566, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 5 X 4=80
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTMEM119

GO:0030501

positive regulation of bone mineralization

20025746

HgeneTMEM119

GO:0033690

positive regulation of osteoblast proliferation

20025746

HgeneTMEM119

GO:0045669

positive regulation of osteoblast differentiation

20025746

TgeneGAK

GO:0010977

negative regulation of neuron projection development

24510904


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
ChiTaRS3.1BI015039TMEM119chr12

108985352

+GAKchr4

905553

+
* 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
intron-3CDSENST00000392806ENST00000314167TMEM119chr12

108985352

+GAKchr4

905553

+
intron-intronENST00000392806ENST00000511163TMEM119chr12

108985352

+GAKchr4

905553

+
intron-intronENST00000392806ENST00000509566TMEM119chr12

108985352

+GAKchr4

905553

+

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FusionProtFeatures for TMEM119_GAK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM119

Q4V9L6

GAK

O14976

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}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TMEM119_GAK


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TMEM119_GAK


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


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 TMEM119_GAK


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 TMEM119_GAK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGAKC0030567Parkinson Disease1CTD_human