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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: 38301

FusionGeneSummary for TMCC2_NBEA

check button Fusion gene summary
Fusion gene informationFusion gene name: TMCC2_NBEA
Fusion gene ID: 38301
HgeneTgene
Gene symbol

TMCC2

NBEA

Gene ID

9911

26960

Gene nametransmembrane and coiled-coil domain family 2neurobeachin
SynonymsHUCEP11BCL8B|LYST2
Cytomap

1q32.1

13q13.3

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane and coiled-coil domains protein 2cerebral protein 11neurobeachinlysosomal-trafficking regulator 2
Modification date2018052320180519
UniProtAcc

O75069

Q8NFP9

Ensembl transtripts involved in fusion geneENST00000358024, ENST00000545499, 
ENST00000495538, ENST00000330675, 
ENST00000329800, 		ENST00000540320, 
ENST00000400445, ENST00000310336, 
ENST00000379939, ENST00000537702, 
ENST00000379922, ENST00000461581, 
Fusion gene scores* DoF score4 X 5 X 3=606 X 6 X 3=108
# samples 76
** MAII scorelog2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMCC2 [Title/Abstract] AND NBEA [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
HgeneTMCC2

GO:0042982

amyloid precursor protein metabolic process

21593558


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
TCGARVPCPGTCGA-QT-A5XO-01ATMCC2chr1

205211172

+NBEAchr13

35864526

+
* 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-shiftENST00000358024ENST00000540320TMCC2chr1

205211172

+NBEAchr13

35864526

+
Frame-shiftENST00000358024ENST00000400445TMCC2chr1

205211172

+NBEAchr13

35864526

+
Frame-shiftENST00000358024ENST00000310336TMCC2chr1

205211172

+NBEAchr13

35864526

+
Frame-shiftENST00000358024ENST00000379939TMCC2chr1

205211172

+NBEAchr13

35864526

+
5CDS-intronENST00000358024ENST00000537702TMCC2chr1

205211172

+NBEAchr13

35864526

+
5CDS-intronENST00000358024ENST00000379922TMCC2chr1

205211172

+NBEAchr13

35864526

+
5CDS-intronENST00000358024ENST00000461581TMCC2chr1

205211172

+NBEAchr13

35864526

+
Frame-shiftENST00000545499ENST00000540320TMCC2chr1

205211172

+NBEAchr13

35864526

+
Frame-shiftENST00000545499ENST00000400445TMCC2chr1

205211172

+NBEAchr13

35864526

+
Frame-shiftENST00000545499ENST00000310336TMCC2chr1

205211172

+NBEAchr13

35864526

+
Frame-shiftENST00000545499ENST00000379939TMCC2chr1

205211172

+NBEAchr13

35864526

+
5CDS-intronENST00000545499ENST00000537702TMCC2chr1

205211172

+NBEAchr13

35864526

+
5CDS-intronENST00000545499ENST00000379922TMCC2chr1

205211172

+NBEAchr13

35864526

+
5CDS-intronENST00000545499ENST00000461581TMCC2chr1

205211172

+NBEAchr13

35864526

+
3UTR-3CDSENST00000495538ENST00000540320TMCC2chr1

205211172

+NBEAchr13

35864526

+
3UTR-3CDSENST00000495538ENST00000400445TMCC2chr1

205211172

+NBEAchr13

35864526

+
3UTR-3CDSENST00000495538ENST00000310336TMCC2chr1

205211172

+NBEAchr13

35864526

+
3UTR-3CDSENST00000495538ENST00000379939TMCC2chr1

205211172

+NBEAchr13

35864526

+
3UTR-intronENST00000495538ENST00000537702TMCC2chr1

205211172

+NBEAchr13

35864526

+
3UTR-intronENST00000495538ENST00000379922TMCC2chr1

205211172

+NBEAchr13

35864526

+
3UTR-intronENST00000495538ENST00000461581TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-3CDSENST00000330675ENST00000540320TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-3CDSENST00000330675ENST00000400445TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-3CDSENST00000330675ENST00000310336TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-3CDSENST00000330675ENST00000379939TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-intronENST00000330675ENST00000537702TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-intronENST00000330675ENST00000379922TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-intronENST00000330675ENST00000461581TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-3CDSENST00000329800ENST00000540320TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-3CDSENST00000329800ENST00000400445TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-3CDSENST00000329800ENST00000310336TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-3CDSENST00000329800ENST00000379939TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-intronENST00000329800ENST00000537702TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-intronENST00000329800ENST00000379922TMCC2chr1

205211172

+NBEAchr13

35864526

+
intron-intronENST00000329800ENST00000461581TMCC2chr1

205211172

+NBEAchr13

35864526

+

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FusionProtFeatures for TMCC2_NBEA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMCC2

O75069

NBEA

Q8NFP9

May be involved in the regulation of the proteolyticprocessing of the amyloid precursor protein (APP) possibly alsoimplicating APOE. {ECO:0000269|PubMed:21593558}. Binds to type II regulatory subunits of protein kinase Aand anchors/targets them to the membrane. May anchor the kinase tocytoskeletal and/or organelle-associated proteins (By similarity).{ECO:0000250}.

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 TMCC2_NBEA


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 TMCC2_NBEA


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
TMCC2HGS, APP, AES, CDR2, HSPD1, EIF4E2, TMCC2, KAT5, DIP2A, PRPF31, WT1-AS, AMOTL2, ZNF581, FAM90A1, ZNF250, CCDC33, FAM161A, RHOXF2, DPY30, ZNF587, FBF1, ZNF417, C6orf165, IQUB, FAM74A4, TEX28, FBLIM1, MARK2, MARK3, UHRF1, ACTBL2, HNRNPLL, ACTB, CMTR1, CORO1A, FKBP10NBEASTRN4, DTNBP1, NOTCH1, VCP, FOSL2, RD3, TMEM17, PTPRH, ALOXE3, SHC4, RBM48, MRPL21, NAB2, STRADB


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 TMCC2_NBEA


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 TMCC2_NBEA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNBEAC0004352Autistic Disorder2CTD_human
TgeneNBEAC0023893Liver Cirrhosis, Experimental1CTD_human