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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: 39833

FusionGeneSummary for TSPAN1_CEP152

check button Fusion gene summary
Fusion gene informationFusion gene name: TSPAN1_CEP152
Fusion gene ID: 39833
HgeneTgene
Gene symbol

TSPAN1

CEP152

Gene ID

10103

22995

Gene nametetraspanin 1centrosomal protein 152
SynonymsNET1|TM4C|TM4SFMCPH4|MCPH9|SCKL5
Cytomap

1p34.1

15q21.1

Type of geneprotein-codingprotein-coding
Descriptiontetraspanin-1tetraspan 1centrosomal protein of 152 kDaasterlesscentrosomal protein 152kDamicrocephaly, primary autosomal recessive 4
Modification date2018052320180523
UniProtAcc

O60635

O94986

Ensembl transtripts involved in fusion geneENST00000498443, ENST00000372003, 
ENST00000380950, ENST00000399334, 
ENST00000325747, ENST00000559398, 
Fusion gene scores* DoF score4 X 1 X 3=123 X 2 X 3=18
# samples 43
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TSPAN1 [Title/Abstract] AND CEP152 [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
HgeneTSPAN1

GO:0008283

cell proliferation

22378020

HgeneTSPAN1

GO:0050821

protein stabilization

21836059


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
TCGARVUCECTCGA-AJ-A8CV-01ATSPAN1chr1

46651630

+CEP152chr15

49057864

-
* 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-intronENST00000498443ENST00000380950TSPAN1chr1

46651630

+CEP152chr15

49057864

-
intron-intronENST00000498443ENST00000399334TSPAN1chr1

46651630

+CEP152chr15

49057864

-
intron-intronENST00000498443ENST00000325747TSPAN1chr1

46651630

+CEP152chr15

49057864

-
intron-intronENST00000498443ENST00000559398TSPAN1chr1

46651630

+CEP152chr15

49057864

-
5CDS-intronENST00000372003ENST00000380950TSPAN1chr1

46651630

+CEP152chr15

49057864

-
5CDS-intronENST00000372003ENST00000399334TSPAN1chr1

46651630

+CEP152chr15

49057864

-
5CDS-intronENST00000372003ENST00000325747TSPAN1chr1

46651630

+CEP152chr15

49057864

-
5CDS-intronENST00000372003ENST00000559398TSPAN1chr1

46651630

+CEP152chr15

49057864

-

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FusionProtFeatures for TSPAN1_CEP152


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TSPAN1

O60635

CEP152

O94986

Necessary for centrosome duplication; the function seemsalso to involve CEP63, CDK5RAP2 and WDR62 through a stepwiseassembled complex at the centrosome that recruits CDK2 requiredfor centriole duplication (PubMed:26297806). Acts as a molecularscaffold facilitating the interaction of PLK4 and CENPJ, 2molecules involved in centriole formation (PubMed:21059844,PubMed:20852615). Proposed to snatch PLK4 away from PLK4:CEP92complexes in early G1 daughter centriole and to reposition PLK4 atthe outer boundary of a newly forming CEP152 ring structure(PubMed:24997597). Also plays a key role in deuterosome-mediatedcentriole amplification in multiciliated that can generate morethan 100 centrioles (By similarity). Overexpression of CEP152 candrive amplification of centrioles (PubMed:20852615).{ECO:0000250|UniProtKB:A2AUM9, ECO:0000250|UniProtKB:Q498G2,ECO:0000269|PubMed:20852615, ECO:0000269|PubMed:21059844,ECO:0000269|PubMed:21131973}.

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 TSPAN1_CEP152


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 TSPAN1_CEP152


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
TSPAN1NFKBIBCEP152IRF5, EPB41L3, KIAA0368, CUL2, NPM1, LATS1, PLK4, CEP192, CEP63, CCDC67, CENPJ, PCNT, CDK5RAP2, NEDD1, GSDMA, MTHFD1L, CEP131, LYAR, A2ML1, CEP128, ALMS1, CEP85, KIAA0753, CEP350, MYO9A, MED4, CEP120, ACTR3, ADSL, ANXA1, AP3M1, ARHGAP21, ATXN10, CC2D1A, CCDC138, CNOT1, CNOT10, CNOT3, CSK, DBT, DLG5, DSP, ECH1, ERC1, FAM21A, FGFR1OP, GPATCH1, GPX1, GYS1, HAUS2, HAUS3, HAUS6, HAUS8, KIAA1671, KIF14, KIF1A, LUZP1, MAP4K4, MAPK1IP1L, MLEC, STK26, NCKAP1, NDEL1, NDUFA5, OFD1, PALLD, PCM1, PSMG1, RAE1, RASSF8, RGAG1, RGPD3, RPF2, RPGRIP1L, RQCD1, RRM1, SAMD4B, SDCCAG3, SIPA1L3, SMC2, SMG5, SMG7, SRP9, TBK1, TCHP, TJP1, TNIP1, TNRC6A, TNRC6B, TP53, TP53BP2, TTC28, TTF2, TTK, TUBGCP2, TXLNA, VPS45, WASH1, WDR83, XRN1, YWHAH, CEP135, CNTRL, POC5, SASS6, KIAA1244, DYNLL1, FBXL13


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 TSPAN1_CEP152


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 TSPAN1_CEP152


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCEP152C0265202Seckel syndrome1CTD_human;ORPHANET
TgeneCEP152C3151187SECKEL SYNDROME 51UNIPROT
TgeneCEP152C3553886MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE1UNIPROT