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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: 25749

FusionGeneSummary for PACSIN2_CEACAM5

check button Fusion gene summary
Fusion gene informationFusion gene name: PACSIN2_CEACAM5
Fusion gene ID: 25749
HgeneTgene
Gene symbol

PACSIN2

CEACAM5

Gene ID

11252

1048

Gene nameprotein kinase C and casein kinase substrate in neurons 2carcinoembryonic antigen related cell adhesion molecule 5
SynonymsSDPIICD66e|CEA
Cytomap

22q13.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C and casein kinase substrate in neurons protein 2cytoplasmic phosphoprotein PACSIN2syndapin-2syndapin-IIsyndapin2carcinoembryonic antigen-related cell adhesion molecule 5meconium antigen 100
Modification date2018052320180523
UniProtAcc

Q9UNF0

P06731

Ensembl transtripts involved in fusion geneENST00000337959, ENST00000263246, 
ENST00000407585, ENST00000403744, 
ENST00000402229, 
ENST00000398599, 
ENST00000221992, ENST00000405816, 
Fusion gene scores* DoF score16 X 9 X 8=11524 X 3 X 3=36
# samples 174
** MAII scorelog2(17/1152*10)=-2.76053406530461
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PACSIN2 [Title/Abstract] AND CEACAM5 [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
HgenePACSIN2

GO:0097320

plasma membrane tubulation

23596323

TgeneCEACAM5

GO:0010832

negative regulation of myotube differentiation

8408226|10931872

TgeneCEACAM5

GO:0034109

homotypic cell-cell adhesion

10864933

TgeneCEACAM5

GO:0043066

negative regulation of apoptotic process

11448920

TgeneCEACAM5

GO:2000811

negative regulation of anoikis

10910050


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
ChiTaRS3.1CA432846PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
* 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-3CDSENST00000337959ENST00000398599PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000337959ENST00000221992PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000337959ENST00000405816PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000263246ENST00000398599PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000263246ENST00000221992PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000263246ENST00000405816PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000407585ENST00000398599PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000407585ENST00000221992PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000407585ENST00000405816PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000403744ENST00000398599PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000403744ENST00000221992PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000403744ENST00000405816PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000402229ENST00000398599PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000402229ENST00000221992PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-
intron-3CDSENST00000402229ENST00000405816PACSIN2chr22

43267006

+CEACAM5chr19

42221405

-

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FusionProtFeatures for PACSIN2_CEACAM5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PACSIN2

Q9UNF0

CEACAM5

P06731

Lipid-binding protein that is able to promote thetubulation of the phosphatidic acid-containing membranes itpreferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surfacereceptors like the EGF receptor, contributing to itsinternalization in the absence of EGF stimulus. May also play arole in the formation of caveolae at the cell membrane. RecruitsDNM2 to caveolae, and thereby plays a role in caveola-mediatedendocytosis. {ECO:0000269|PubMed:21610094,ECO:0000269|PubMed:21693584, ECO:0000269|PubMed:23129763,ECO:0000269|PubMed:23236520, ECO:0000269|PubMed:23596323}. Cell surface glycoprotein that plays a role in celladhesion, intracellular signaling and tumor progression(PubMed:2803308, PubMed:10910050, PubMed:10864933). Mediateshomophilic and heterophilic cell adhesion with othercarcinoembryonic antigen-related cell adhesion molecules, such asCEACAM6 (PubMed:2803308). Plays a role as an oncogene by promotingtumor progression; induces resistance to anoikis of colorectalcarcinoma cells (PubMed:10910050). {ECO:0000269|PubMed:10864933,ECO:0000269|PubMed:10910050, ECO:0000269|PubMed:2803308}. (Microbial infection) Receptor for E.coli Dr adhesins.Binding of E.coli Dr adhesins leads to dissociation of thehomodimer. {ECO:0000269|PubMed:18086185}.

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 PACSIN2_CEACAM5


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 PACSIN2_CEACAM5


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 PACSIN2_CEACAM5


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 PACSIN2_CEACAM5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePACSIN2C3495559Juvenile arthritis1CTD_human
TgeneCEACAM5C0000786Spontaneous abortion1CTD_human