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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: 38526

FusionGeneSummary for TMEM199_TMEM199

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM199_TMEM199
Fusion gene ID: 38526
HgeneTgene
Gene symbol

TMEM199

TMEM199

Gene ID

147007

147007

Gene nametransmembrane protein 199transmembrane protein 199
SynonymsC17orf32|CDG2P|VMA12|VPH2C17orf32|CDG2P|VMA12|VPH2
Cytomap

17q11.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 199transmembrane protein 199
Modification date2018052220180522
UniProtAcc

Q8N511

Q8N511

Ensembl transtripts involved in fusion geneENST00000292114, ENST00000509083, 
ENST00000581386, ENST00000395404, 
ENST00000292114, ENST00000509083, 
ENST00000581386, ENST00000395404, 
Fusion gene scores* DoF score2 X 3 X 1=61 X 2 X 1=2
# samples 32
** MAII scorelog2(3/6*10)=2.32192809488736log2(2/2*10)=3.32192809488736
Context

PubMed: TMEM199 [Title/Abstract] AND TMEM199 [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

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
ChiTaRS3.1BU675842TMEM199chr17

26688950

-TMEM199chr17

26688832

+
ChiTaRS3.1CB164079TMEM199chr17

26695684

+TMEM199chr17

26695080

-
* 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
3UTR-3UTRENST00000292114ENST00000292114TMEM199chr17

26688950

-TMEM199chr17

26688832

+
3UTR-intronENST00000292114ENST00000509083TMEM199chr17

26688950

-TMEM199chr17

26688832

+
3UTR-intronENST00000292114ENST00000581386TMEM199chr17

26688950

-TMEM199chr17

26688832

+
3UTR-intronENST00000292114ENST00000395404TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-3UTRENST00000509083ENST00000292114TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000509083ENST00000509083TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000509083ENST00000581386TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000509083ENST00000395404TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-3UTRENST00000581386ENST00000292114TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000581386ENST00000509083TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000581386ENST00000581386TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000581386ENST00000395404TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-3UTRENST00000395404ENST00000292114TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000395404ENST00000509083TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000395404ENST00000581386TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000395404ENST00000395404TMEM199chr17

26688950

-TMEM199chr17

26688832

+
intron-intronENST00000292114ENST00000292114TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000292114ENST00000509083TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000292114ENST00000581386TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000292114ENST00000395404TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000509083ENST00000292114TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000509083ENST00000509083TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000509083ENST00000581386TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000509083ENST00000395404TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000581386ENST00000292114TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000581386ENST00000509083TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000581386ENST00000581386TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000581386ENST00000395404TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000395404ENST00000292114TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000395404ENST00000509083TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000395404ENST00000581386TMEM199chr17

26695684

+TMEM199chr17

26695080

-
intron-intronENST00000395404ENST00000395404TMEM199chr17

26695684

+TMEM199chr17

26695080

-

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FusionProtFeatures for TMEM199_TMEM199


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM199

Q8N511

TMEM199

Q8N511

Accessory component of the proton-transporting vacuolar(V)-ATPase protein pump involved in intracellular ironhomeostasis. In aerobic conditions, required for intracellulariron homeostasis, thus triggering the activity of Fe(2+) prolylhydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation andsubsequent proteasomal degradation. Necessary for endolysosomalacidification and lysosomal degradation (PubMed:28296633). May beinvolved in Golgi homeostasis (PubMed:26833330).{ECO:0000269|PubMed:26833330, ECO:0000269|PubMed:28296633}. Accessory component of the proton-transporting vacuolar(V)-ATPase protein pump involved in intracellular ironhomeostasis. In aerobic conditions, required for intracellulariron homeostasis, thus triggering the activity of Fe(2+) prolylhydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation andsubsequent proteasomal degradation. Necessary for endolysosomalacidification and lysosomal degradation (PubMed:28296633). May beinvolved in Golgi homeostasis (PubMed:26833330).{ECO:0000269|PubMed:26833330, ECO:0000269|PubMed:28296633}.

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 TMEM199_TMEM199


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 TMEM199_TMEM199


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 TMEM199_TMEM199


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 TMEM199_TMEM199


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMEM199C4225190CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp1ORPHANET;UNIPROT
TgeneTMEM199C4225190CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp1ORPHANET;UNIPROT