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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: 12076

FusionGeneSummary for ESCO1_LAMA3

check button Fusion gene summary
Fusion gene informationFusion gene name: ESCO1_LAMA3
Fusion gene ID: 12076
HgeneTgene
Gene symbol

ESCO1

LAMA3

Gene ID

114799

3910

Gene nameestablishment of sister chromatid cohesion N-acetyltransferase 1laminin subunit alpha 4
SynonymsA930014I12Rik|CTF|ECO1|EFO1|ESO1CMD1JJ|LAMA3|LAMA4*-1
Cytomap

18q11.2

6q21

Type of geneprotein-codingprotein-coding
DescriptionN-acetyltransferase ESCO1CTF7 homolog 1ECO1 homolog 1EFO1pESO1 homolog 1N-acetyltransferase ESCO1 variant 2establishment factor-like protein 1establishment of cohesion 1 homolog 1hEFO1laminin subunit alpha-4laminin alpha 4 chainlaminin, alpha 4
Modification date2018052320180522
UniProtAcc

Q5FWF5

Q16787

Ensembl transtripts involved in fusion geneENST00000269214, ENST00000580101, 
ENST00000313654, ENST00000399516, 
ENST00000269217, ENST00000587184, 
ENST00000588770, 
Fusion gene scores* DoF score10 X 5 X 7=3506 X 7 X 4=168
# samples 1310
** MAII scorelog2(13/350*10)=-1.42884329880387
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/168*10)=-0.748461233004036
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ESCO1 [Title/Abstract] AND LAMA3 [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
HgeneESCO1

GO:0018394

peptidyl-lysine acetylation

27112597


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
TCGARVLUSCTCGA-66-2766-01AESCO1chr18

19140820

-LAMA3chr18

21353461

+
* 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-shitENST00000269214ENST00000313654ESCO1chr18

19140820

-LAMA3chr18

21353461

+
Frame-shitENST00000269214ENST00000399516ESCO1chr18

19140820

-LAMA3chr18

21353461

+
5CDS-intronENST00000269214ENST00000269217ESCO1chr18

19140820

-LAMA3chr18

21353461

+
5CDS-intronENST00000269214ENST00000587184ESCO1chr18

19140820

-LAMA3chr18

21353461

+
5CDS-intronENST00000269214ENST00000588770ESCO1chr18

19140820

-LAMA3chr18

21353461

+
intron-3CDSENST00000580101ENST00000313654ESCO1chr18

19140820

-LAMA3chr18

21353461

+
intron-3CDSENST00000580101ENST00000399516ESCO1chr18

19140820

-LAMA3chr18

21353461

+
intron-intronENST00000580101ENST00000269217ESCO1chr18

19140820

-LAMA3chr18

21353461

+
intron-intronENST00000580101ENST00000587184ESCO1chr18

19140820

-LAMA3chr18

21353461

+
intron-intronENST00000580101ENST00000588770ESCO1chr18

19140820

-LAMA3chr18

21353461

+

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FusionProtFeatures for ESCO1_LAMA3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ESCO1

Q5FWF5

LAMA3

Q16787


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 ESCO1_LAMA3


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 ESCO1_LAMA3


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
ESCO1KDM1A, HDAC1, HDAC2, HIST1H3A, EHMT2, SUV39H1, SETDB1, HECW2, CDK1, FGFR1OP, CBX8, SMC6, TRIM25LAMA3SDC2, APC, SIRT1, TUBG1, TSHR, TAZ, PTPRK, PLG, PLAT, SPINK4, CD44, DEFA1, SCGB2A2, GML, SCGB1D4, SLAMF1


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 ESCO1_LAMA3


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 ESCO1_LAMA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneLAMA3C0027339Nail Diseases1CTD_human
TgeneLAMA3C0037299Skin Ulcer1CTD_human;HPO
TgeneLAMA3C0079301Junctional Epidermolysis Bullosa1CTD_human
TgeneLAMA3C1328355Laryngoonychocutaneous syndrome1CTD_human;ORPHANET