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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: 8408

FusionGeneSummary for CREB3L2_PCM1

check button Fusion gene summary
Fusion gene informationFusion gene name: CREB3L2_PCM1
Fusion gene ID: 8408
HgeneTgene
Gene symbol

CREB3L2

PCM1

Gene ID

64764

5108

Gene namecAMP responsive element binding protein 3 like 2pericentriolar material 1
SynonymsBBF2H7PTC4|RET/PCM-1
Cytomap

7q33

8p22

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 3-like protein 2B-ZIB transcription factorBBF2 human homolog on chromosome 7FUS/BBF2H7 proteinTCAG_1951439basic transcription factor 2cAMP-responsive element-binding protein 3-like protein 2pericentriolar material 1 proteinPCM-1hPCM-1pericentriolar material 1, PCM1
Modification date2018052320180523
UniProtAcc

Q70SY1

Q15154

Ensembl transtripts involved in fusion geneENST00000330387, ENST00000456390, 
ENST00000452463, ENST00000458726, 
ENST00000468127, 
ENST00000325083, 
ENST00000519253, ENST00000524226, 
ENST00000518537, ENST00000518936, 
ENST00000327578, 
Fusion gene scores* DoF score11 X 10 X 3=3305 X 5 X 3=75
# samples 135
** MAII scorelog2(13/330*10)=-1.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CREB3L2 [Title/Abstract] AND PCM1 [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
HgeneCREB3L2

GO:0045893

positive regulation of transcription, DNA-templated

17178827


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
ChiTaRS3.1BF369730CREB3L2chr7

137561684

+PCM1chr8

17869231

-
* 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-3CDSENST00000330387ENST00000325083CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000330387ENST00000519253CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000330387ENST00000524226CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000330387ENST00000518537CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000330387ENST00000518936CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000330387ENST00000327578CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000456390ENST00000325083CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000456390ENST00000519253CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000456390ENST00000524226CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000456390ENST00000518537CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000456390ENST00000518936CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000456390ENST00000327578CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000452463ENST00000325083CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000452463ENST00000519253CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000452463ENST00000524226CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000452463ENST00000518537CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000452463ENST00000518936CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000452463ENST00000327578CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000458726ENST00000325083CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000458726ENST00000519253CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000458726ENST00000524226CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000458726ENST00000518537CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000458726ENST00000518936CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000458726ENST00000327578CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000468127ENST00000325083CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000468127ENST00000519253CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-3CDSENST00000468127ENST00000524226CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000468127ENST00000518537CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000468127ENST00000518936CREB3L2chr7

137561684

+PCM1chr8

17869231

-
intron-intronENST00000468127ENST00000327578CREB3L2chr7

137561684

+PCM1chr8

17869231

-

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FusionProtFeatures for CREB3L2_PCM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CREB3L2

Q70SY1

PCM1

Q15154

Transcription factor involved in unfolded proteinresponse (UPR). In the absence of endoplasmic reticulum (ER)stress, inserted into ER membranes, with N-terminal DNA-bindingand transcription activation domains oriented toward the cytosolicface of the membrane. In response to ER stress, transported to theGolgi, where it is cleaved in a site-specific manner by residentproteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminalcytosolic domain is translocated to the nucleus to effecttranscription of specific target genes. Plays a critical role inchondrogenesis by activating the transcription of SEC23A, whichpromotes the transport and secretion of cartilage matrix proteins,and possibly that of ER biogenesis-related genes (By similarity).In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcriptionof target genes via direct binding to the CRE site(PubMed:17178827). {ECO:0000250|UniProtKB:Q8BH52,ECO:0000269|PubMed:17178827}.

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 CREB3L2_PCM1


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 CREB3L2_PCM1


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 CREB3L2_PCM1


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 CREB3L2_PCM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePCM1C0036341Schizophrenia1CTD_human