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Fusion gene ID: 12076 |
FusionGeneSummary for ESCO1_LAMA3 |
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Fusion gene information | Fusion gene name: ESCO1_LAMA3 | Fusion gene ID: 12076 | Hgene | Tgene | Gene symbol | ESCO1 | LAMA3 | Gene ID | 114799 | 3910 |
Gene name | establishment of sister chromatid cohesion N-acetyltransferase 1 | laminin subunit alpha 4 | |
Synonyms | A930014I12Rik|CTF|ECO1|EFO1|ESO1 | CMD1JJ|LAMA3|LAMA4*-1 | |
Cytomap | 18q11.2 | 6q21 | |
Type of gene | protein-coding | protein-coding | |
Description | N-acetyltransferase ESCO1CTF7 homolog 1ECO1 homolog 1EFO1pESO1 homolog 1N-acetyltransferase ESCO1 variant 2establishment factor-like protein 1establishment of cohesion 1 homolog 1hEFO1 | laminin subunit alpha-4laminin alpha 4 chainlaminin, alpha 4 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q5FWF5 | Q16787 | |
Ensembl transtripts involved in fusion gene | ENST00000269214, ENST00000580101, | ENST00000313654, ENST00000399516, ENST00000269217, ENST00000587184, ENST00000588770, | |
Fusion gene scores | * DoF score | 10 X 5 X 7=350 | 6 X 7 X 4=168 |
# samples | 13 | 10 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ESCO1 | GO:0018394 | peptidyl-lysine acetylation | 27112597 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LUSC | TCGA-66-2766-01A | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000269214 | ENST00000313654 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
Frame-shift | ENST00000269214 | ENST00000399516 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
5CDS-intron | ENST00000269214 | ENST00000269217 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
5CDS-intron | ENST00000269214 | ENST00000587184 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
5CDS-intron | ENST00000269214 | ENST00000588770 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
intron-3CDS | ENST00000580101 | ENST00000313654 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
intron-3CDS | ENST00000580101 | ENST00000399516 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
intron-intron | ENST00000580101 | ENST00000269217 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
intron-intron | ENST00000580101 | ENST00000587184 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
intron-intron | ENST00000580101 | ENST00000588770 | ESCO1 | chr18 | 19140820 | - | LAMA3 | chr18 | 21353461 | + |
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FusionProtFeatures for ESCO1_LAMA3 |
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Hgene | Tgene |
ESCO1 | LAMA3 |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ESCO1_LAMA3 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ESCO1 | KDM1A, HDAC1, HDAC2, HIST1H3A, EHMT2, SUV39H1, SETDB1, HECW2, CDK1, FGFR1OP, CBX8, SMC6, TRIM25 | LAMA3 | SDC2, APC, SIRT1, TUBG1, TSHR, TAZ, PTPRK, PLG, PLAT, SPINK4, CD44, DEFA1, SCGB2A2, GML, SCGB1D4, SLAMF1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ESCO1_LAMA3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ESCO1_LAMA3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | LAMA3 | C0027339 | Nail Diseases | 1 | CTD_human |
Tgene | LAMA3 | C0037299 | Skin Ulcer | 1 | CTD_human;HPO |
Tgene | LAMA3 | C0079301 | Junctional Epidermolysis Bullosa | 1 | CTD_human |
Tgene | LAMA3 | C1328355 | Laryngoonychocutaneous syndrome | 1 | CTD_human;ORPHANET |