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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: 15005

FusionGeneSummary for GNPTG_RAB40C

check button Fusion gene summary
Fusion gene informationFusion gene name: GNPTG_RAB40C
Fusion gene ID: 15005
HgeneTgene
Gene symbol

GNPTG

RAB40C

Gene ID

84572

57799

Gene nameN-acetylglucosamine-1-phosphate transferase subunit gammaRAB40C, member RAS oncogene family
SynonymsC16orf27|GNPTAG|LP2537|RJD9RARL|RASL8C
Cytomap

16p13.3

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionN-acetylglucosamine-1-phosphotransferase subunit gammaN-acetylglucosamine-1-phosphate transferase gamma subunitUDP-N-acetylglucosamine-1-phosphotransferase subunit gammaglcNAc-1-phosphotransferase subunit gammaras-related protein Rab-40CRAR (RAS like GTPASE) likeRAR likeRAS-like GTPaseRAS-like, family 8, member CSOCS box-containing protein RAR3rar-like proteinras-like protein family member 8C
Modification date2018051920180523
UniProtAcc

Q9UJJ9

Q96S21

Ensembl transtripts involved in fusion geneENST00000204679, ENST00000535977, 
ENST00000539661, ENST00000538492, 
ENST00000248139, 
Fusion gene scores* DoF score2 X 1 X 2=43 X 2 X 3=18
# samples 33
** MAII scorelog2(3/4*10)=2.90689059560852log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GNPTG [Title/Abstract] AND RAB40C [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
HgeneGNPTG

GO:0046835

carbohydrate phosphorylation

19955174


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
TCGARVUCSTCGA-N5-A4RA-01AGNPTGchr16

1402307

+RAB40Cchr16

675432

+
* 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
Frame-shiftENST00000204679ENST00000535977GNPTGchr16

1402307

+RAB40Cchr16

675432

+
Frame-shiftENST00000204679ENST00000539661GNPTGchr16

1402307

+RAB40Cchr16

675432

+
Frame-shiftENST00000204679ENST00000538492GNPTGchr16

1402307

+RAB40Cchr16

675432

+
Frame-shiftENST00000204679ENST00000248139GNPTGchr16

1402307

+RAB40Cchr16

675432

+

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FusionProtFeatures for GNPTG_RAB40C


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

Q9UJJ9

RAB40C

Q96S21

Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formationof mannose 6-phosphate (M6P) markers on high mannose typeoligosaccharides in the Golgi apparatus. Binds and presents thehigh mannose glycans of the acceptor to the catalytic alpha andbeta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolaseacceptors. {ECO:0000269|PubMed:10712439,ECO:0000269|PubMed:19955174}. Probable substrate-recognition component of a SCF-likeECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complexwhich mediates the ubiquitination and subsequent proteasomaldegradation of target proteins. {ECO:0000269|PubMed:15601820}.

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 GNPTG_RAB40C


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 GNPTG_RAB40C


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
GNPTGUPF1, PDYN, TAZ, TMEM25, B3GALT2, PTPRK, ISLR, FAM134C, OLFM4, ANAPC15, SPSB3, WDYHV1, GNPTAB, ZPLD1RAB40CCUL5, DCUN1D1, RNF7, TCEB2, TCEB1, RAB40C, RAB40B, RABGGTB, ANKRD27


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 GNPTG_RAB40C


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 GNPTG_RAB40C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNPTGC1854896Mucolipidosis III Gamma2CTD_human;ORPHANET;UNIPROT