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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ETHE1-CEACAM1 (FusionGDB2 ID:HG23474TG634)

Fusion Gene Summary for ETHE1-CEACAM1

check button Fusion gene summary
Fusion gene informationFusion gene name: ETHE1-CEACAM1
Fusion gene ID: hg23474tg634
HgeneTgene
Gene symbol

ETHE1

CEACAM1

Gene ID

23474

634

Gene nameETHE1 persulfide dioxygenaseCEA cell adhesion molecule 1
SynonymsHSCO|YF13H12BGP|BGP1|BGPI
Cytomap('ETHE1')('CEACAM1')

19q13.31

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionpersulfide dioxygenase ETHE1, mitochondrialethylmalonic encephalopathy 1hepatoma subtracted clone one proteinprotein ETHE1, mitochondrialsulfur dioxygenase ETHE1carcinoembryonic antigen-related cell adhesion molecule 1CD66a antigenantigen CD66carcinoembryonic antigen related cell adhesion molecule 1carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000292147, ENST00000600651, 
Fusion gene scores* DoF score10 X 7 X 8=5603 X 2 X 3=18
# samples 113
** MAII scorelog2(11/560*10)=-2.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ETHE1 [Title/Abstract] AND CEACAM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointETHE1(44030353)-CEACAM1(43013380), # samples:1
Anticipated loss of major functional domain due to fusion event.ETHE1-CEACAM1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ETHE1-CEACAM1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ETHE1-CEACAM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ETHE1-CEACAM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ETHE1-CEACAM1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ETHE1-CEACAM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ETHE1-CEACAM1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneETHE1

GO:0006749

glutathione metabolic process

23144459

HgeneETHE1

GO:0070813

hydrogen sulfide metabolic process

23144459

TgeneCEACAM1

GO:0001915

negative regulation of T cell mediated cytotoxicity

18424730

TgeneCEACAM1

GO:0030334

regulation of cell migration

16291724

TgeneCEACAM1

GO:0043318

negative regulation of cytotoxic T cell degranulation

18424730

TgeneCEACAM1

GO:0044319

wound healing, spreading of cells

16291724

TgeneCEACAM1

GO:0050860

negative regulation of T cell receptor signaling pathway

18424730


check buttonFusion gene breakpoints across ETHE1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across CEACAM1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerTCGA-CG-5734-11AETHE1chr19

44030353

-CEACAM1chr19

43013380

-


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Fusion Gene ORF analysis for ETHE1-CEACAM1

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-3UTRENST00000292147ENST00000308072ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-3UTRENST00000292147ENST00000403444ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-3UTRENST00000292147ENST00000403461ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-3UTRENST00000292147ENST00000599389ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-3UTRENST00000600651ENST00000308072ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-3UTRENST00000600651ENST00000403444ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-3UTRENST00000600651ENST00000403461ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-3UTRENST00000600651ENST00000599389ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-5UTRENST00000292147ENST00000358394ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-5UTRENST00000292147ENST00000488639ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-5UTRENST00000600651ENST00000358394ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
5CDS-5UTRENST00000600651ENST00000488639ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
Frame-shiftENST00000292147ENST00000351134ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
Frame-shiftENST00000600651ENST00000351134ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
In-frameENST00000292147ENST00000161559ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
In-frameENST00000292147ENST00000352591ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
In-frameENST00000600651ENST00000161559ETHE1chr19

44030353

-CEACAM1chr19

43013380

-
In-frameENST00000600651ENST00000352591ETHE1chr19

44030353

-CEACAM1chr19

43013380

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000292147ETHE1chr1944030353-ENST00000352591CEACAM1chr1943013380-236744267561164
ENST00000292147ETHE1chr1944030353-ENST00000161559CEACAM1chr1943013380-236544267561164
ENST00000600651ETHE1chr1944030353-ENST00000352591CEACAM1chr1943013380-232439924518164
ENST00000600651ETHE1chr1944030353-ENST00000161559CEACAM1chr1943013380-232239924518164

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000292147ENST00000352591ETHE1chr1944030353-CEACAM1chr1943013380-0.025554880.9744451
ENST00000292147ENST00000161559ETHE1chr1944030353-CEACAM1chr1943013380-0.0260057240.9739943
ENST00000600651ENST00000352591ETHE1chr1944030353-CEACAM1chr1943013380-0.0161392220.98386085
ENST00000600651ENST00000161559ETHE1chr1944030353-CEACAM1chr1943013380-0.0164889490.9835111

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Fusion Genomic Features for ETHE1-CEACAM1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for ETHE1-CEACAM1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:44030353/chr19:43013380)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035113446237_317213253.0DomainIg-like C2-type 2
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035113446323_413213253.0DomainIg-like C2-type 3
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035113446453_526213253.0Topological domainCytoplasmic
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035259168453_526391431.0Topological domainCytoplasmic
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035839479453_526422462.0Topological domainCytoplasmic
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040346157453_526373282.0Topological domainCytoplasmic
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000059938968453_526404241.0Topological domainCytoplasmic
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035113446429_452213253.0TransmembraneHelical
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035259168429_452391431.0TransmembraneHelical
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035839479429_452422462.0TransmembraneHelical
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040346157429_452373282.0TransmembraneHelical
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000059938968429_452404241.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000016155979145_232487527.0DomainIg-like C2-type 1
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000016155979237_317487527.0DomainIg-like C2-type 2
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000016155979323_413487527.0DomainIg-like C2-type 3
TgeneCEACAM1chr19:44030353chr19:43013380ENST000001615597935_142487527.0DomainIg-like V-type
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035113446145_232213253.0DomainIg-like C2-type 1
TgeneCEACAM1chr19:44030353chr19:43013380ENST000003511344635_142213253.0DomainIg-like V-type
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035259168145_232391431.0DomainIg-like C2-type 1
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035259168237_317391431.0DomainIg-like C2-type 2
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035259168323_413391431.0DomainIg-like C2-type 3
TgeneCEACAM1chr19:44030353chr19:43013380ENST000003525916835_142391431.0DomainIg-like V-type
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035839479145_232422462.0DomainIg-like C2-type 1
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035839479237_317422462.0DomainIg-like C2-type 2
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035839479323_413422462.0DomainIg-like C2-type 3
TgeneCEACAM1chr19:44030353chr19:43013380ENST000003583947935_142422462.0DomainIg-like V-type
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040344468145_232469938.0DomainIg-like C2-type 1
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040344468237_317469938.0DomainIg-like C2-type 2
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040344468323_413469938.0DomainIg-like C2-type 3
TgeneCEACAM1chr19:44030353chr19:43013380ENST000004034446835_142469938.0DomainIg-like V-type
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040346157145_232373282.0DomainIg-like C2-type 1
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040346157237_317373282.0DomainIg-like C2-type 2
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040346157323_413373282.0DomainIg-like C2-type 3
TgeneCEACAM1chr19:44030353chr19:43013380ENST000004034615735_142373282.0DomainIg-like V-type
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000059938968145_232404241.0DomainIg-like C2-type 1
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000059938968237_317404241.0DomainIg-like C2-type 2
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000059938968323_413404241.0DomainIg-like C2-type 3
TgeneCEACAM1chr19:44030353chr19:43013380ENST000005993896835_142404241.0DomainIg-like V-type
TgeneCEACAM1chr19:44030353chr19:43013380ENST000001615597939_142487527.0RegionRequired for homophilic binding
TgeneCEACAM1chr19:44030353chr19:43013380ENST000003511344639_142213253.0RegionRequired for homophilic binding
TgeneCEACAM1chr19:44030353chr19:43013380ENST000003525916839_142391431.0RegionRequired for homophilic binding
TgeneCEACAM1chr19:44030353chr19:43013380ENST000003583947939_142422462.0RegionRequired for homophilic binding
TgeneCEACAM1chr19:44030353chr19:43013380ENST000004034446839_142469938.0RegionRequired for homophilic binding
TgeneCEACAM1chr19:44030353chr19:43013380ENST000004034615739_142373282.0RegionRequired for homophilic binding
TgeneCEACAM1chr19:44030353chr19:43013380ENST000005993896839_142404241.0RegionRequired for homophilic binding
TgeneCEACAM1chr19:44030353chr19:43013380ENST000001615597935_428487527.0Topological domainExtracellular
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000016155979453_526487527.0Topological domainCytoplasmic
TgeneCEACAM1chr19:44030353chr19:43013380ENST000003511344635_428213253.0Topological domainExtracellular
TgeneCEACAM1chr19:44030353chr19:43013380ENST000003525916835_428391431.0Topological domainExtracellular
TgeneCEACAM1chr19:44030353chr19:43013380ENST000003583947935_428422462.0Topological domainExtracellular
TgeneCEACAM1chr19:44030353chr19:43013380ENST000004034446835_428469938.0Topological domainExtracellular
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040344468453_526469938.0Topological domainCytoplasmic
TgeneCEACAM1chr19:44030353chr19:43013380ENST000004034615735_428373282.0Topological domainExtracellular
TgeneCEACAM1chr19:44030353chr19:43013380ENST000005993896835_428404241.0Topological domainExtracellular
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000016155979429_452487527.0TransmembraneHelical
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040344468429_452469938.0TransmembraneHelical


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Fusion Gene Sequence for ETHE1-CEACAM1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>27646_27646_1_ETHE1-CEACAM1_ETHE1_chr19_44030353_ENST00000292147_CEACAM1_chr19_43013380_ENST00000161559_length(transcript)=2365nt_BP=442nt
AGTGCCGTAGCGCCCGGCTCCTGCAGGCGCTCGGCCTCCGCTCATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGT
CGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCACCTTCACGTA
CCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGACCCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCT
GGGGCTGCGGCTGCTCTATGCTGTGAATACCCACTGCCACGCGGACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTG
CCAGTCTGTCATCTCCCGCCTTAGTGGGGCCCAGGCTGACTTACACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCATGAATGA
AGTTACTTATTCTACCCTGAACTTTGAAGCCCAGCAACCCACACAACCAACTTCAGCCTCCCCATCCCTAACAGCCACAGAAATAATTTA
TTCAGAAGTAAAAAAGCAGTAATGAAACCTGTCCTGCTCACTGCAGTGCTGATGTATTTCAAGTCTCTCACCCTCATCACTAGGAGATTC
CTTTCCCCTGTAGGGGTAGAGGGGTGGGGACAGAAACAACTTTCTCCTACTCTTCCTTCCTAATAGGCATCTCCAGGCTGCCTGGTCACT
GCCCCTCTCTCAGTGTCAATAGATGAAAGTACATTGGGAGTCTGTAGGAAACCCAACCTTCTTGTCATTGAAATTTGGCAAAGCTGACTT
TGGGAAAGAGGGACCAGAACTTCCCCTCCCTTCCCCTTTTCCCAACCTGGACTTGTTTTAAACTTGCCTGTTCAGAGCACTCATTCCTTC
CCACCCCCAGTCCTGTCCTATCACTCTAATTCGGATTTGCCATAGCCTTGAGGTTATGTCCTTTTCCATTAAGTACATGTGCCAGGAAAC
AAGAGAGAGAGAAAGTAAAGGCAGTAATGCCTTCTCCTATTTCTCCAAAGCCTTGTGTGAACTCACCAAACACAAGAAAATCAAATATAT
AACCAATAGTGAAATGCCACACCTTTGTCCACTGTCAGGGTTGTCTACCTGTAGGATCAGGGTCTAAGCACCTTGGTGCTTAGCTAGAAT
ACCACCTAATCCTTCTGGCAAGCCTGTCTTCAGAGAACCCACTAGAAGCAACTAGGAAAATCACTTGCCAAAATCCAAGGCAATTCCTGA
TGGAAAATGCAAAAGCACATATATGTTTTAATATCTTTATGGGCTCTGTTCAAGGCAGTGCTGAGAGGGAGGGGTTATAGCTTCAGGAGG
GAACCAGCTTCTGATAAACACAATCTGCTAGGAACTTGGGAAAGGAATCAGAGAGCTGCCCTTCAGCGATTATTTAAATTATTGTTAAAG
AATACACAATTTGGGGTATTGGGATTTTTCTCCTTTTCTCTGAGACATTCCACCATTTTAATTTTTGTAACTGCTTATTTATGTGAAAAG
GGTTATTTTTACTTAGCTTAGCTATGTCAGCCAATCCGATTGCCTTAGGTGAAAGAAACCACCGAAATCCCTCAGGTCCCTTGGTCAGGA
GCCTCTCAAGATTTTTTTTGTCAGAGGCTCCAAATAGAAAATAAGAAAAGGTTTTCTTCATTCATGGCTAGAGCTAGATTTAACTCAGTT
TCTAGGCACCTCAGACCAATCATCAACTACCATTCTATTCCATGTTTGCACCTGTGCATTTTCTGTTTGCCCCCATTCACTTTGTCAGGA
AACCTTGGCCTCTGCTAAGGTGTATTTGGTCCTTGAGAAGTGGGAGCACCCTACAGGGACACTATCACTCATGCTGGTGGCATTGTTTAC
AGCTAGAAAGCTGCACTGGTGCTAATGCCCCTTGGGGAAATGGGGCTGTGAGGAGGAGGATTATAACTTAGGCCTAGCCTCTTTTAACAG
CCTCTGAAATTTATCTTTTCTTCTATGGGGTCTATAAATGTATCTTATAATAAAAAGGAAGGACAGGAGGAAGACAGGCAAATGTACTTC
TCACCCAGTCTTCTACACAGATGGAATCTCTTTGGGGCTAAGAGAAAGGTTTTATTCTATATTGCTTACCTGATCTCATGTTAGGCCTAA
GAGGCTTTCTCCAGGAGGATTAGCTTGGAGTTCTCTATACTCAGGTACCTCTTTCAGGGTTTTCTAACCCTGACACGGACTGTGCATACT
TTCCCTCATCCATGCTGTGCTGTGTTATTTAATTTTTCCTGGCTAAGATCATGTCTGAATTATGTATGAAAATTATTCTATGTTTTTATA
ATAAAAATAATATATCAGACATCGA

>27646_27646_1_ETHE1-CEACAM1_ETHE1_chr19_44030353_ENST00000292147_CEACAM1_chr19_43013380_ENST00000161559_length(amino acids)=164AA_BP=125
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGL
LRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFMNEVTYSTLNFEAQQPTQPTSASPSLTATEIIYSEVKKQ

--------------------------------------------------------------
>27646_27646_2_ETHE1-CEACAM1_ETHE1_chr19_44030353_ENST00000292147_CEACAM1_chr19_43013380_ENST00000352591_length(transcript)=2367nt_BP=442nt
AGTGCCGTAGCGCCCGGCTCCTGCAGGCGCTCGGCCTCCGCTCATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGT
CGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCACCTTCACGTA
CCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGACCCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCT
GGGGCTGCGGCTGCTCTATGCTGTGAATACCCACTGCCACGCGGACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTG
CCAGTCTGTCATCTCCCGCCTTAGTGGGGCCCAGGCTGACTTACACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCATGAATGA
AGTTACTTATTCTACCCTGAACTTTGAAGCCCAGCAACCCACACAACCAACTTCAGCCTCCCCATCCCTAACAGCCACAGAAATAATTTA
TTCAGAAGTAAAAAAGCAGTAATGAAACCTGTCCTGCTCACTGCAGTGCTGATGTATTTCAAGTCTCTCACCCTCATCACTAGGAGATTC
CTTTCCCCTGTAGGGGTAGAGGGGTGGGGACAGAAACAACTTTCTCCTACTCTTCCTTCCTAATAGGCATCTCCAGGCTGCCTGGTCACT
GCCCCTCTCTCAGTGTCAATAGATGAAAGTACATTGGGAGTCTGTAGGAAACCCAACCTTCTTGTCATTGAAATTTGGCAAAGCTGACTT
TGGGAAAGAGGGACCAGAACTTCCCCTCCCTTCCCCTTTTCCCAACCTGGACTTGTTTTAAACTTGCCTGTTCAGAGCACTCATTCCTTC
CCACCCCCAGTCCTGTCCTATCACTCTAATTCGGATTTGCCATAGCCTTGAGGTTATGTCCTTTTCCATTAAGTACATGTGCCAGGAAAC
AAGAGAGAGAGAAAGTAAAGGCAGTAATGCCTTCTCCTATTTCTCCAAAGCCTTGTGTGAACTCACCAAACACAAGAAAATCAAATATAT
AACCAATAGTGAAATGCCACACCTTTGTCCACTGTCAGGGTTGTCTACCTGTAGGATCAGGGTCTAAGCACCTTGGTGCTTAGCTAGAAT
ACCACCTAATCCTTCTGGCAAGCCTGTCTTCAGAGAACCCACTAGAAGCAACTAGGAAAATCACTTGCCAAAATCCAAGGCAATTCCTGA
TGGAAAATGCAAAAGCACATATATGTTTTAATATCTTTATGGGCTCTGTTCAAGGCAGTGCTGAGAGGGAGGGGTTATAGCTTCAGGAGG
GAACCAGCTTCTGATAAACACAATCTGCTAGGAACTTGGGAAAGGAATCAGAGAGCTGCCCTTCAGCGATTATTTAAATTATTGTTAAAG
AATACACAATTTGGGGTATTGGGATTTTTCTCCTTTTCTCTGAGACATTCCACCATTTTAATTTTTGTAACTGCTTATTTATGTGAAAAG
GGTTATTTTTACTTAGCTTAGCTATGTCAGCCAATCCGATTGCCTTAGGTGAAAGAAACCACCGAAATCCCTCAGGTCCCTTGGTCAGGA
GCCTCTCAAGATTTTTTTTGTCAGAGGCTCCAAATAGAAAATAAGAAAAGGTTTTCTTCATTCATGGCTAGAGCTAGATTTAACTCAGTT
TCTAGGCACCTCAGACCAATCATCAACTACCATTCTATTCCATGTTTGCACCTGTGCATTTTCTGTTTGCCCCCATTCACTTTGTCAGGA
AACCTTGGCCTCTGCTAAGGTGTATTTGGTCCTTGAGAAGTGGGAGCACCCTACAGGGACACTATCACTCATGCTGGTGGCATTGTTTAC
AGCTAGAAAGCTGCACTGGTGCTAATGCCCCTTGGGGAAATGGGGCTGTGAGGAGGAGGATTATAACTTAGGCCTAGCCTCTTTTAACAG
CCTCTGAAATTTATCTTTTCTTCTATGGGGTCTATAAATGTATCTTATAATAAAAAGGAAGGACAGGAGGAAGACAGGCAAATGTACTTC
TCACCCAGTCTTCTACACAGATGGAATCTCTTTGGGGCTAAGAGAAAGGTTTTATTCTATATTGCTTACCTGATCTCATGTTAGGCCTAA
GAGGCTTTCTCCAGGAGGATTAGCTTGGAGTTCTCTATACTCAGGTACCTCTTTCAGGGTTTTCTAACCCTGACACGGACTGTGCATACT
TTCCCTCATCCATGCTGTGCTGTGTTATTTAATTTTTCCTGGCTAAGATCATGTCTGAATTATGTATGAAAATTATTCTATGTTTTTATA
ATAAAAATAATATATCAGACATCGACA

>27646_27646_2_ETHE1-CEACAM1_ETHE1_chr19_44030353_ENST00000292147_CEACAM1_chr19_43013380_ENST00000352591_length(amino acids)=164AA_BP=125
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGL
LRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFMNEVTYSTLNFEAQQPTQPTSASPSLTATEIIYSEVKKQ

--------------------------------------------------------------
>27646_27646_3_ETHE1-CEACAM1_ETHE1_chr19_44030353_ENST00000600651_CEACAM1_chr19_43013380_ENST00000161559_length(transcript)=2322nt_BP=399nt
ATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCC
ATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCACCTTCACGTACCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGAC
CCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGGGCTGCGGCTGCTCTATGCTGTGAATACCCACTGCCACGCG
GACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTGCCAGTCTGTCATCTCCCGCCTTAGTGGGGCCCAGGCTGACTTA
CACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCATGAATGAAGTTACTTATTCTACCCTGAACTTTGAAGCCCAGCAACCCACA
CAACCAACTTCAGCCTCCCCATCCCTAACAGCCACAGAAATAATTTATTCAGAAGTAAAAAAGCAGTAATGAAACCTGTCCTGCTCACTG
CAGTGCTGATGTATTTCAAGTCTCTCACCCTCATCACTAGGAGATTCCTTTCCCCTGTAGGGGTAGAGGGGTGGGGACAGAAACAACTTT
CTCCTACTCTTCCTTCCTAATAGGCATCTCCAGGCTGCCTGGTCACTGCCCCTCTCTCAGTGTCAATAGATGAAAGTACATTGGGAGTCT
GTAGGAAACCCAACCTTCTTGTCATTGAAATTTGGCAAAGCTGACTTTGGGAAAGAGGGACCAGAACTTCCCCTCCCTTCCCCTTTTCCC
AACCTGGACTTGTTTTAAACTTGCCTGTTCAGAGCACTCATTCCTTCCCACCCCCAGTCCTGTCCTATCACTCTAATTCGGATTTGCCAT
AGCCTTGAGGTTATGTCCTTTTCCATTAAGTACATGTGCCAGGAAACAAGAGAGAGAGAAAGTAAAGGCAGTAATGCCTTCTCCTATTTC
TCCAAAGCCTTGTGTGAACTCACCAAACACAAGAAAATCAAATATATAACCAATAGTGAAATGCCACACCTTTGTCCACTGTCAGGGTTG
TCTACCTGTAGGATCAGGGTCTAAGCACCTTGGTGCTTAGCTAGAATACCACCTAATCCTTCTGGCAAGCCTGTCTTCAGAGAACCCACT
AGAAGCAACTAGGAAAATCACTTGCCAAAATCCAAGGCAATTCCTGATGGAAAATGCAAAAGCACATATATGTTTTAATATCTTTATGGG
CTCTGTTCAAGGCAGTGCTGAGAGGGAGGGGTTATAGCTTCAGGAGGGAACCAGCTTCTGATAAACACAATCTGCTAGGAACTTGGGAAA
GGAATCAGAGAGCTGCCCTTCAGCGATTATTTAAATTATTGTTAAAGAATACACAATTTGGGGTATTGGGATTTTTCTCCTTTTCTCTGA
GACATTCCACCATTTTAATTTTTGTAACTGCTTATTTATGTGAAAAGGGTTATTTTTACTTAGCTTAGCTATGTCAGCCAATCCGATTGC
CTTAGGTGAAAGAAACCACCGAAATCCCTCAGGTCCCTTGGTCAGGAGCCTCTCAAGATTTTTTTTGTCAGAGGCTCCAAATAGAAAATA
AGAAAAGGTTTTCTTCATTCATGGCTAGAGCTAGATTTAACTCAGTTTCTAGGCACCTCAGACCAATCATCAACTACCATTCTATTCCAT
GTTTGCACCTGTGCATTTTCTGTTTGCCCCCATTCACTTTGTCAGGAAACCTTGGCCTCTGCTAAGGTGTATTTGGTCCTTGAGAAGTGG
GAGCACCCTACAGGGACACTATCACTCATGCTGGTGGCATTGTTTACAGCTAGAAAGCTGCACTGGTGCTAATGCCCCTTGGGGAAATGG
GGCTGTGAGGAGGAGGATTATAACTTAGGCCTAGCCTCTTTTAACAGCCTCTGAAATTTATCTTTTCTTCTATGGGGTCTATAAATGTAT
CTTATAATAAAAAGGAAGGACAGGAGGAAGACAGGCAAATGTACTTCTCACCCAGTCTTCTACACAGATGGAATCTCTTTGGGGCTAAGA
GAAAGGTTTTATTCTATATTGCTTACCTGATCTCATGTTAGGCCTAAGAGGCTTTCTCCAGGAGGATTAGCTTGGAGTTCTCTATACTCA
GGTACCTCTTTCAGGGTTTTCTAACCCTGACACGGACTGTGCATACTTTCCCTCATCCATGCTGTGCTGTGTTATTTAATTTTTCCTGGC
TAAGATCATGTCTGAATTATGTATGAAAATTATTCTATGTTTTTATAATAAAAATAATATATCAGACATCGA

>27646_27646_3_ETHE1-CEACAM1_ETHE1_chr19_44030353_ENST00000600651_CEACAM1_chr19_43013380_ENST00000161559_length(amino acids)=164AA_BP=125
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGL
LRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFMNEVTYSTLNFEAQQPTQPTSASPSLTATEIIYSEVKKQ

--------------------------------------------------------------
>27646_27646_4_ETHE1-CEACAM1_ETHE1_chr19_44030353_ENST00000600651_CEACAM1_chr19_43013380_ENST00000352591_length(transcript)=2324nt_BP=399nt
ATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCC
ATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCACCTTCACGTACCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGAC
CCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGGGCTGCGGCTGCTCTATGCTGTGAATACCCACTGCCACGCG
GACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTGCCAGTCTGTCATCTCCCGCCTTAGTGGGGCCCAGGCTGACTTA
CACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCATGAATGAAGTTACTTATTCTACCCTGAACTTTGAAGCCCAGCAACCCACA
CAACCAACTTCAGCCTCCCCATCCCTAACAGCCACAGAAATAATTTATTCAGAAGTAAAAAAGCAGTAATGAAACCTGTCCTGCTCACTG
CAGTGCTGATGTATTTCAAGTCTCTCACCCTCATCACTAGGAGATTCCTTTCCCCTGTAGGGGTAGAGGGGTGGGGACAGAAACAACTTT
CTCCTACTCTTCCTTCCTAATAGGCATCTCCAGGCTGCCTGGTCACTGCCCCTCTCTCAGTGTCAATAGATGAAAGTACATTGGGAGTCT
GTAGGAAACCCAACCTTCTTGTCATTGAAATTTGGCAAAGCTGACTTTGGGAAAGAGGGACCAGAACTTCCCCTCCCTTCCCCTTTTCCC
AACCTGGACTTGTTTTAAACTTGCCTGTTCAGAGCACTCATTCCTTCCCACCCCCAGTCCTGTCCTATCACTCTAATTCGGATTTGCCAT
AGCCTTGAGGTTATGTCCTTTTCCATTAAGTACATGTGCCAGGAAACAAGAGAGAGAGAAAGTAAAGGCAGTAATGCCTTCTCCTATTTC
TCCAAAGCCTTGTGTGAACTCACCAAACACAAGAAAATCAAATATATAACCAATAGTGAAATGCCACACCTTTGTCCACTGTCAGGGTTG
TCTACCTGTAGGATCAGGGTCTAAGCACCTTGGTGCTTAGCTAGAATACCACCTAATCCTTCTGGCAAGCCTGTCTTCAGAGAACCCACT
AGAAGCAACTAGGAAAATCACTTGCCAAAATCCAAGGCAATTCCTGATGGAAAATGCAAAAGCACATATATGTTTTAATATCTTTATGGG
CTCTGTTCAAGGCAGTGCTGAGAGGGAGGGGTTATAGCTTCAGGAGGGAACCAGCTTCTGATAAACACAATCTGCTAGGAACTTGGGAAA
GGAATCAGAGAGCTGCCCTTCAGCGATTATTTAAATTATTGTTAAAGAATACACAATTTGGGGTATTGGGATTTTTCTCCTTTTCTCTGA
GACATTCCACCATTTTAATTTTTGTAACTGCTTATTTATGTGAAAAGGGTTATTTTTACTTAGCTTAGCTATGTCAGCCAATCCGATTGC
CTTAGGTGAAAGAAACCACCGAAATCCCTCAGGTCCCTTGGTCAGGAGCCTCTCAAGATTTTTTTTGTCAGAGGCTCCAAATAGAAAATA
AGAAAAGGTTTTCTTCATTCATGGCTAGAGCTAGATTTAACTCAGTTTCTAGGCACCTCAGACCAATCATCAACTACCATTCTATTCCAT
GTTTGCACCTGTGCATTTTCTGTTTGCCCCCATTCACTTTGTCAGGAAACCTTGGCCTCTGCTAAGGTGTATTTGGTCCTTGAGAAGTGG
GAGCACCCTACAGGGACACTATCACTCATGCTGGTGGCATTGTTTACAGCTAGAAAGCTGCACTGGTGCTAATGCCCCTTGGGGAAATGG
GGCTGTGAGGAGGAGGATTATAACTTAGGCCTAGCCTCTTTTAACAGCCTCTGAAATTTATCTTTTCTTCTATGGGGTCTATAAATGTAT
CTTATAATAAAAAGGAAGGACAGGAGGAAGACAGGCAAATGTACTTCTCACCCAGTCTTCTACACAGATGGAATCTCTTTGGGGCTAAGA
GAAAGGTTTTATTCTATATTGCTTACCTGATCTCATGTTAGGCCTAAGAGGCTTTCTCCAGGAGGATTAGCTTGGAGTTCTCTATACTCA
GGTACCTCTTTCAGGGTTTTCTAACCCTGACACGGACTGTGCATACTTTCCCTCATCCATGCTGTGCTGTGTTATTTAATTTTTCCTGGC
TAAGATCATGTCTGAATTATGTATGAAAATTATTCTATGTTTTTATAATAAAAATAATATATCAGACATCGACA

>27646_27646_4_ETHE1-CEACAM1_ETHE1_chr19_44030353_ENST00000600651_CEACAM1_chr19_43013380_ENST00000352591_length(amino acids)=164AA_BP=125
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGL
LRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFMNEVTYSTLNFEAQQPTQPTSASPSLTATEIIYSEVKKQ

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ETHE1-CEACAM1


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
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035113446450_462213.0253.0calmodulin
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035259168450_462391.0431.0calmodulin
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035839479450_462422.0462.0calmodulin
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040346157450_462373.3333333333333282.0calmodulin
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000059938968450_462404.3333333333333241.0calmodulin
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035113446452_526213.0253.0FLNA
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035259168452_526391.0431.0FLNA
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000035839479452_526422.0462.0FLNA
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040346157452_526373.3333333333333282.0FLNA
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000059938968452_526404.3333333333333241.0FLNA


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000016155979450_462487.0527.0calmodulin
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040344468450_462469.3333333333333938.0calmodulin
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000016155979452_526487.0527.0FLNA
TgeneCEACAM1chr19:44030353chr19:43013380ENST0000040344468452_526469.3333333333333938.0FLNA


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ETHE1-CEACAM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ETHE1-CEACAM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETHE1C0023264Leigh Disease10CLINGEN
HgeneETHE1C1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY10CLINGEN
HgeneETHE1C1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency10CLINGEN
HgeneETHE1C1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency10CLINGEN
HgeneETHE1C1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency10CLINGEN
HgeneETHE1C1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency10CLINGEN
HgeneETHE1C2931891Necrotizing encephalopathy, infantile subacute, of Leigh10CLINGEN
HgeneETHE1C1865349Ethylmalonic encephalopathy4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4552766Miscarriage1CTD_human