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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: 6454

FusionGeneSummary for CDH2_EPB41L3

check button Fusion gene summary
Fusion gene informationFusion gene name: CDH2_EPB41L3
Fusion gene ID: 6454
HgeneTgene
Gene symbol

CDH2

EPB41L3

Gene ID

1000

23136

Gene namecadherin 2erythrocyte membrane protein band 4.1 like 3
SynonymsCD325|CDHN|CDw325|NCAD4.1B|DAL-1|DAL1
Cytomap

18q12.1

18p11.31

Type of geneprotein-codingprotein-coding
Descriptioncadherin-2N-cadherin 1cadherin 2, type 1, N-cadherin (neuronal)calcium-dependent adhesion protein, neuronalneural cadherinband 4.1-like protein 3differentially expressed in adenocarcinoma of the lung protein 1
Modification date2018052320180523
UniProtAcc

P19022

Q9Y2J2

Ensembl transtripts involved in fusion geneENST00000269141, ENST00000399380, 
ENST00000341928, ENST00000544123, 
ENST00000540638, ENST00000342933, 
ENST00000400111, ENST00000542652, 
ENST00000427684, ENST00000542146, 
Fusion gene scores* DoF score3 X 1 X 3=93 X 3 X 3=27
# samples 33
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CDH2 [Title/Abstract] AND EPB41L3 [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

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
TCGARVSARCTCGA-MJ-A68H-01ACDH2chr18

25727637

-EPB41L3chr18

5489193

-
* 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
5CDS-5UTRENST00000269141ENST00000341928CDH2chr18

25727637

-EPB41L3chr18

5489193

-
5CDS-5UTRENST00000269141ENST00000544123CDH2chr18

25727637

-EPB41L3chr18

5489193

-
5CDS-5UTRENST00000269141ENST00000540638CDH2chr18

25727637

-EPB41L3chr18

5489193

-
5CDS-5UTRENST00000269141ENST00000342933CDH2chr18

25727637

-EPB41L3chr18

5489193

-
5CDS-5UTRENST00000269141ENST00000400111CDH2chr18

25727637

-EPB41L3chr18

5489193

-
5CDS-intronENST00000269141ENST00000542652CDH2chr18

25727637

-EPB41L3chr18

5489193

-
5CDS-intronENST00000269141ENST00000427684CDH2chr18

25727637

-EPB41L3chr18

5489193

-
5CDS-intronENST00000269141ENST00000542146CDH2chr18

25727637

-EPB41L3chr18

5489193

-
intron-5UTRENST00000399380ENST00000341928CDH2chr18

25727637

-EPB41L3chr18

5489193

-
intron-5UTRENST00000399380ENST00000544123CDH2chr18

25727637

-EPB41L3chr18

5489193

-
intron-5UTRENST00000399380ENST00000540638CDH2chr18

25727637

-EPB41L3chr18

5489193

-
intron-5UTRENST00000399380ENST00000342933CDH2chr18

25727637

-EPB41L3chr18

5489193

-
intron-5UTRENST00000399380ENST00000400111CDH2chr18

25727637

-EPB41L3chr18

5489193

-
intron-intronENST00000399380ENST00000542652CDH2chr18

25727637

-EPB41L3chr18

5489193

-
intron-intronENST00000399380ENST00000427684CDH2chr18

25727637

-EPB41L3chr18

5489193

-
intron-intronENST00000399380ENST00000542146CDH2chr18

25727637

-EPB41L3chr18

5489193

-

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FusionProtFeatures for CDH2_EPB41L3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDH2

P19022

EPB41L3

Q9Y2J2

Cadherins are calcium-dependent cell adhesion proteins.They preferentially interact with themselves in a homophilicmanner in connecting cells; cadherins may thus contribute to thesorting of heterogeneous cell types. Acts as a regulator of neuralstem cells quiescence by mediating anchorage of neural stem cellsto ependymocytes in the adult subependymal zone: upon cleavage byMMP24, CDH2-mediated anchorage is affected, leading to modulateneural stem cell quiescence. CDH2 may be involved in neuronalrecognition mechanism. In hippocampal neurons, may regulatedendritic spine density (By similarity). {ECO:0000250}. Tumor suppressor that inhibits cell proliferation andpromotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5.{ECO:0000269|PubMed:15334060, ECO:0000269|PubMed:15737618,ECO:0000269|PubMed:16420693, ECO:0000269|PubMed:9892180}.

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 CDH2_EPB41L3


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 CDH2_EPB41L3


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
CDH2GNA12, GNA13, ACTA1, CTNNA1, CTNNB1, JUP, CTNND1, CDH11, RAB8B, BOC, CDON, PKP4, LRRC7, CDH4, RYK, PRPH, RPL32, PRKCDBP, MRPL23, MTHFD1, PC, SUPT5H, SSR4, RPL21, RPL3, RPL8, ICT1, RPS26, RPL14, RPS16, KTN1, GAA, TPM4, MRPL49, PTBP3, SPTBN1, TMEM256, NENF, SARS2, PPT2, IARS2, NACA2, DBN1, PDIA4, UBC, EXOC5, FBXO45, SKP1, CREBBP, CCNA2, DDR1, DDR2, NTRK1, EGFR, ERBB2, PSEN1, CTNNA3, SLC9A3R1EPB41L3MBIP, SMYD2, YWHAG, YWHAB, YWHAZ, YWHAQ, SPTBN1, CNTNAP2, CADM1, YWHAH, CEP152, UNC13A, ELAVL1, ARRB2, SIRT7, ATXN1L, PSEN1, PAXIP1, MAGOH, EIF4A3, SMURF1, FBXO6, ASB3, GSK3B, HUWE1, TCF4, ABCE1, DDAH2, YWHAE, ACIN1, MLLT3, PRMT5, AP3B1, AP3D1, AP3M1, AP3S1, ATAD3A, CSNK2A1, CSNK2A2, CSNK2B, CWC22, CWC27, DDB1, DHX15, DKC1, DPY30, DYNLL1, EPB41L1, EPB41L2, EIF2B2, EIF2B4, ENY2, GID8, GPATCH8, HSPA12A, CLNS1A, KANK1, LYAR, WDR77, C1orf35, NAF1, NUMA1, PLA2G12A, PIP4K2A, PIP4K2B, PIP4K2C, PNN, PRPF4B, RANBP9, RBFA, RNPS1, RPS15, SNRPB, SAP18, SCML1, SCOC, SETD1A, SRRM1, SRRM2, TAF2, VANGL1, VPRBP, WDR26, ZC3H18, ZRANB2, WWC1, HSPB1, MED4, KIF1C, ELMSAN1, KIF7, CDC5L, FAF2, DERL1, CDH1, MISP, PRICKLE3, SNRPN, CACNG5, CYP2S1, SPTA1


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 CDH2_EPB41L3


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 CDH2_EPB41L3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDH2C0027627Neoplasm Metastasis1CTD_human
HgeneCDH2C0027746Nerve Degeneration1CTD_human
HgeneCDH2C0038220Status Epilepticus1CTD_human
HgeneCDH2C0038356Stomach Neoplasms1CTD_human
HgeneCDH2C0151744Myocardial Ischemia1CTD_human
TgeneEPB41L3C1458155Mammary Neoplasms1CTD_human