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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: 37355

FusionGeneSummary for TBC1D1_NMU

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D1_NMU
Fusion gene ID: 37355
HgeneTgene
Gene symbol

TBC1D1

NMU

Gene ID

23216

10874

Gene nameTBC1 domain family member 1neuromedin U
SynonymsTBC|TBC1-
Cytomap

4p14

4q12

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 1TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1neuromedin-Uneuromedin U precursor-related peptide/neuromedin U preproproteinprepro-NMU
Modification date2018052320180523
UniProtAcc

Q86TI0

P48645

Ensembl transtripts involved in fusion geneENST00000508802, ENST00000261439, 
ENST00000402522, ENST00000407365, 
ENST00000511469, ENST00000264218, 
ENST00000505262, ENST00000507338, 
ENST00000515325, 
Fusion gene scores* DoF score7 X 6 X 5=2105 X 4 X 6=120
# samples 76
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBC1D1 [Title/Abstract] AND NMU [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
TgeneNMU

GO:0007218

neuropeptide signaling pathway

10894543|11027493


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
TCGALDOVTCGA-59-A5PD-01ATBC1D1chr4

38055959

+NMUchr4

56466742

-
* 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-shiftENST00000508802ENST00000511469TBC1D1chr4

38055959

+NMUchr4

56466742

-
Frame-shiftENST00000508802ENST00000264218TBC1D1chr4

38055959

+NMUchr4

56466742

-
Frame-shiftENST00000508802ENST00000505262TBC1D1chr4

38055959

+NMUchr4

56466742

-
Frame-shiftENST00000508802ENST00000507338TBC1D1chr4

38055959

+NMUchr4

56466742

-
5CDS-5UTRENST00000508802ENST00000515325TBC1D1chr4

38055959

+NMUchr4

56466742

-
Frame-shiftENST00000261439ENST00000511469TBC1D1chr4

38055959

+NMUchr4

56466742

-
Frame-shiftENST00000261439ENST00000264218TBC1D1chr4

38055959

+NMUchr4

56466742

-
Frame-shiftENST00000261439ENST00000505262TBC1D1chr4

38055959

+NMUchr4

56466742

-
Frame-shiftENST00000261439ENST00000507338TBC1D1chr4

38055959

+NMUchr4

56466742

-
5CDS-5UTRENST00000261439ENST00000515325TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-3CDSENST00000402522ENST00000511469TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-3CDSENST00000402522ENST00000264218TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-3CDSENST00000402522ENST00000505262TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-3CDSENST00000402522ENST00000507338TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-5UTRENST00000402522ENST00000515325TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-3CDSENST00000407365ENST00000511469TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-3CDSENST00000407365ENST00000264218TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-3CDSENST00000407365ENST00000505262TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-3CDSENST00000407365ENST00000507338TBC1D1chr4

38055959

+NMUchr4

56466742

-
intron-5UTRENST00000407365ENST00000515325TBC1D1chr4

38055959

+NMUchr4

56466742

-

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FusionProtFeatures for TBC1D1_NMU


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBC1D1

Q86TI0

NMU

P48645

May act as a GTPase-activating protein for Rab familyprotein(s). May play a role in the cell cycle and differentiationof various tissues. Involved in the trafficking and translocationof GLUT4-containing vesicles and insulin-stimulated glucose uptakeinto cells (By similarity). {ECO:0000250}. Stimulates muscle contractions of specific regions ofthe gastrointestinal tract. In humans, NmU stimulates contractionsof the ileum and urinary bladder.

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 TBC1D1_NMU


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 TBC1D1_NMU


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
TBC1D1YWHAG, MAP1LC3A, GABARAPL1, BARD1, ROR1, YWHAE, SMAD2, YWHAB, HSPB1, ZFC3H1, KCTD3, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, CBY1NMUNMUR2, NMUR1, SNTA1, KRTAP5-9, NOTCH2NL, HLA-DPA1, IL20RB, B3GALNT1, GINM1, TENC1, MANSC1, MGAT4C, PCDHA4, PCDH20, ENTPD7, F7


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 TBC1D1_NMU


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 TBC1D1_NMU


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTBC1D1C0028754Obesity3CTD_human