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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:COL26A1-GGCT (FusionGDB2 ID:18257)

Fusion Gene Summary for COL26A1-GGCT

check button Fusion gene summary
Fusion gene informationFusion gene name: COL26A1-GGCT
Fusion gene ID: 18257
HgeneTgene
Gene symbol

COL26A1

GGCT

Gene ID

136227

79017

Gene namecollagen type XXVI alpha 1 chaingamma-glutamylcyclotransferase
SynonymsEMI6|EMID2|EMU2|SH2BC7orf24|CRF21|GCTG|GGC
Cytomap

7q22.1

7p14.3

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(XXVI) chainEMI domain containing 2collagen, type XXVI, alpha 1emilin and multimerin domain-containing protein 2gamma-glutamylcyclotransferasecytochrome c-releasing factor 21gamma -glutamyl cyclotransferase
Modification date2020031320200313
UniProtAcc

Q96A83

O75223

Ensembl transtripts involved in fusion geneENST00000313669, ENST00000397927, 
ENST00000528707, 
ENST00000409436, 
ENST00000005374, ENST00000275428, 
ENST00000409390, ENST00000598361, 
ENST00000409144, 
Fusion gene scores* DoF score5 X 5 X 4=1005 X 5 X 3=75
# samples 55
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL26A1 [Title/Abstract] AND GGCT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL26A1(101176424)-GGCT(30536851), # samples:2
Anticipated loss of major functional domain due to fusion event.COL26A1-GGCT seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
COL26A1-GGCT seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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

check buttonFusion gene breakpoints across COL26A1 (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 GGCT (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4GBMTCGA-12-0616-01ACOL26A1chr7

101176424

+GGCTchr7

30536851

-


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Fusion Gene ORF analysis for COL26A1-GGCT

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-intronENST00000313669ENST00000409436COL26A1chr7

101176424

+GGCTchr7

30536851

-
5CDS-intronENST00000397927ENST00000409436COL26A1chr7

101176424

+GGCTchr7

30536851

-
5CDS-intronENST00000528707ENST00000409436COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000313669ENST00000005374COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000313669ENST00000275428COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000313669ENST00000409390COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000313669ENST00000598361COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000397927ENST00000005374COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000397927ENST00000275428COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000397927ENST00000409390COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000397927ENST00000598361COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000528707ENST00000005374COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000528707ENST00000275428COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000528707ENST00000409390COL26A1chr7

101176424

+GGCTchr7

30536851

-
Frame-shiftENST00000528707ENST00000598361COL26A1chr7

101176424

+GGCTchr7

30536851

-
In-frameENST00000313669ENST00000409144COL26A1chr7

101176424

+GGCTchr7

30536851

-
In-frameENST00000397927ENST00000409144COL26A1chr7

101176424

+GGCTchr7

30536851

-
In-frameENST00000528707ENST00000409144COL26A1chr7

101176424

+GGCTchr7

30536851

-

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)
ENST00000397927COL26A1chr7101176424+ENST00000409144GGCTchr730536851-12636607070236
ENST00000313669COL26A1chr7101176424+ENST00000409144GGCTchr730536851-12426396860229
ENST00000528707COL26A1chr7101176424+ENST00000409144GGCTchr730536851-12005976440215

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
ENST00000397927ENST00000409144COL26A1chr7101176424+GGCTchr730536851-0.035683720.9643163
ENST00000313669ENST00000409144COL26A1chr7101176424+GGCTchr730536851-0.0266309530.973369
ENST00000528707ENST00000409144COL26A1chr7101176424+GGCTchr730536851-0.0539395550.9460604

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Fusion Genomic Features for COL26A1-GGCT


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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for COL26A1-GGCT


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/chr7:101176424/chr7:30536851)
- 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
COL26A1

Q96A83

GGCT

O75223

FUNCTION: Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis. {ECO:0000269|PubMed:16765912, ECO:0000269|PubMed:18515354}.

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
HgeneCOL26A1chr7:101176424chr7:30536851ENST00000397927+41352_128149441.6666666666667DomainEMI

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL26A1chr7:101176424chr7:30536851ENST00000397927+413199_267149441.6666666666667DomainNote=Collagen-like 1
HgeneCOL26A1chr7:101176424chr7:30536851ENST00000397927+413302_355149441.6666666666667DomainNote=Collagen-like 2
TgeneGGCTchr7:101176424chr7:30536851ENST000000053741319_2495115.0RegionSubstrate binding
TgeneGGCTchr7:101176424chr7:30536851ENST000002754282419_24141189.0RegionSubstrate binding
TgeneGGCTchr7:101176424chr7:30536851ENST000004091440219_244795.0RegionSubstrate binding
TgeneGGCTchr7:101176424chr7:30536851ENST000004093902419_24147167.0RegionSubstrate binding


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Fusion Gene Sequence for COL26A1-GGCT


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.
>18257_18257_1_COL26A1-GGCT_COL26A1_chr7_101176424_ENST00000313669_GGCT_chr7_30536851_ENST00000409144_length(transcript)=1242nt_BP=639nt
GAATTTGAAAAGGCGGCCCCGGAGAGGCGTGGGCGCCCCCCACACATTTCCAGCTCGCACCCGGGCTCCGACCGCTCGCCCCGCTCCTCT
CGCTGTGCTCCCGGCCGGTGCCGCGGGTTCGGTCCGGGCGCCGGTGCGCTCCTGCCGGTCCTCGTGCCCGGGACTCCGGGTCCCCGCGGG
CTGCTGCGCACGATGAAGCTGGCCCTGCTCCTGCCCTGGGCGTGTTGCTGCCTCTGCGGGTCGGCGCTGGCCACCGGCTTCCTCTATCCC
TTCTCGGCCGCAGCTCTGCAGCAGCACGGCTACCCCGAGCCCGGCGCCGGCTCCCCTGGCAGCGGCTACGCGAGCCGCCGGCACTGGTGC
CATCACACAGTGACACGGACGGTGTCCTGCCAGGTGCAGAATGGCTCGGAGACGGTGGTCCAGCGCGTGTACCAGAGCTGCCGGTGGCCG
GGGCCCTGCGCCAACCTCGTAAGTTACAGGACTCTGATCAGACCCACCTACAGAGTGTCCTACCGCACGGTGACGGTGCTGGAGTGGAGA
TGCTGCCCTGGCTTCACCGGGAGCAACTGTGATGAGGAATGCATGAACTGCACCCGGCTCAGTGACATGAGTGAGCGACTGACCACACTG
GAGGCCAAGATTATTTGCATGGGTGCAAAAGAAAATGGTTTGCCGCTGGAGTATCAAGAGAAGTTAAAAGCAATAGAACCAAATGACTAT
ACAGGAAAGGTCTCAGAAGAAATTGAAGACATCATCAAAAAGGGGGAAACACAAACTCTTTAGAACATAACAGAATATATCTAAGGGTAT
TCTATGTGCTAATATAAAATATTTTTAACACTTGAGAACAGGGATCTGGGGGATCTCCACGTTTGATCCATTTTCAGCAGTGCTCTGAAG
GAGTATCTTACTTGGGTGATTCCTTGTTTTTAGACTATAAAAAGAAACTGGGATAGGAGTTAGACAATTTAAAAGGGGTGTATGAGGGCC
TGAAATATGTGACAAATGAATGTGAGTACCCCTTCTGTGAACACTGAAAGCTATTCTCTTGAATTGATCTTAAGTGTCTCCTTGCTCTGG
TAAAAGATAGATTTGTAGCTCACTTGATGATGGTGCTGGTGAATTGCTCTGCTCTGTCTGAGATTTTTAAAAATCAGCTTAATGAGAGTA

>18257_18257_1_COL26A1-GGCT_COL26A1_chr7_101176424_ENST00000313669_GGCT_chr7_30536851_ENST00000409144_length(amino acids)=229AA_BP=1
MILQRQTIFFCTHANNLGLQCGQSLTHVTEPGAVHAFLITVAPGEARAASPLQHRHRAVGHSVGGSDQSPVTYEVGAGPRPPAALVHALD
HRLRAILHLAGHRPCHCVMAPVPAARVAAARGAGAGLGVAVLLQSCGREGIEEAGGQRRPAEAATRPGQEQGQLHRAQQPAGTRSPGHED

--------------------------------------------------------------
>18257_18257_2_COL26A1-GGCT_COL26A1_chr7_101176424_ENST00000397927_GGCT_chr7_30536851_ENST00000409144_length(transcript)=1263nt_BP=660nt
CGGCTTAGAGCCCACCTCGCCGAATTTGAAAAGGCGGCCCCGGAGAGGCGTGGGCGCCCCCCACACATTTCCAGCTCGCACCCGGGCTCC
GACCGCTCGCCCCGCTCCTCTCGCTGTGCTCCCGGCCGGTGCCGCGGGTTCGGTCCGGGCGCCGGTGCGCTCCTGCCGGTCCTCGTGCCC
GGGACTCCGGGTCCCCGCGGGCTGCTGCGCACGATGAAGCTGGCCCTGCTCCTGCCCTGGGCGTGTTGCTGCCTCTGCGGGTCGGCGCTG
GCCACCGGCTTCCTCTATCCCTTCTCGGCCGCAGCTCTGCAGCAGCACGGCTACCCCGAGCCCGGCGCCGGCTCCCCTGGCAGCGGCTAC
GCGAGCCGCCGGCACTGGTGCCATCACACAGTGACACGGACGGTGTCCTGCCAGGTGCAGAATGGCTCGGAGACGGTGGTCCAGCGCGTG
TACCAGAGCTGCCGGTGGCCGGGGCCCTGCGCCAACCTCGTAAGTTACAGGACTCTGATCAGACCCACCTACAGAGTGTCCTACCGCACG
GTGACGGTGCTGGAGTGGAGATGCTGCCCTGGCTTCACCGGGAGCAACTGTGATGAGGAATGCATGAACTGCACCCGGCTCAGTGACATG
AGTGAGCGACTGACCACACTGGAGGCCAAGATTATTTGCATGGGTGCAAAAGAAAATGGTTTGCCGCTGGAGTATCAAGAGAAGTTAAAA
GCAATAGAACCAAATGACTATACAGGAAAGGTCTCAGAAGAAATTGAAGACATCATCAAAAAGGGGGAAACACAAACTCTTTAGAACATA
ACAGAATATATCTAAGGGTATTCTATGTGCTAATATAAAATATTTTTAACACTTGAGAACAGGGATCTGGGGGATCTCCACGTTTGATCC
ATTTTCAGCAGTGCTCTGAAGGAGTATCTTACTTGGGTGATTCCTTGTTTTTAGACTATAAAAAGAAACTGGGATAGGAGTTAGACAATT
TAAAAGGGGTGTATGAGGGCCTGAAATATGTGACAAATGAATGTGAGTACCCCTTCTGTGAACACTGAAAGCTATTCTCTTGAATTGATC
TTAAGTGTCTCCTTGCTCTGGTAAAAGATAGATTTGTAGCTCACTTGATGATGGTGCTGGTGAATTGCTCTGCTCTGTCTGAGATTTTTA
AAAATCAGCTTAATGAGAGTAATCTGCAGACAATTGATAATAACATTTTGAAAATTGGAAAGATGGTATACTGTTTTTAGAGGAATAAAC

>18257_18257_2_COL26A1-GGCT_COL26A1_chr7_101176424_ENST00000397927_GGCT_chr7_30536851_ENST00000409144_length(amino acids)=236AA_BP=1
MILQRQTIFFCTHANNLGLQCGQSLTHVTEPGAVHAFLITVAPGEARAASPLQHRHRAVGHSVGGSDQSPVTYEVGAGPRPPAALVHALD
HRLRAILHLAGHRPCHCVMAPVPAARVAAARGAGAGLGVAVLLQSCGREGIEEAGGQRRPAEAATRPGQEQGQLHRAQQPAGTRSPGHED

--------------------------------------------------------------
>18257_18257_3_COL26A1-GGCT_COL26A1_chr7_101176424_ENST00000528707_GGCT_chr7_30536851_ENST00000409144_length(transcript)=1200nt_BP=597nt
CCCCCACACATTTCCAGCTCGCACCCGGGCTCCGACCGCTCGCCCCGCTCCTCTCGCTGTGCTCCCGGCCGGTGCCGCGGGTTCGGTCCG
GGCGCCGGTGCGCTCCTGCCGGTCCTCGTGCCCGGGACTCCGGGTCCCCGCGGGCTGCTGCGCACGATGAAGCTGGCCCTGCTCCTGCCC
TGGGCGTGTTGCTGCCTCTGCGGGTCGGCGCTGGCCACCGGCTTCCTCTATCCCTTCTCGGCCGCAGCTCTGCAGCAGCACGGCTACCCC
GAGCCCGGCGCCGGCTCCCCTGGCAGCGGCTACGCGAGCCGCCGGCACTGGTGCCATCACACAGTGACACGGACGGTGTCCTGCCAGGTG
CAGAATGGCTCGGAGACGGTGGTCCAGCGCGTGTACCAGAGCTGCCGGTGGCCGGGGCCCTGCGCCAACCTCGTAAGGACTCTGATCAGA
CCCACCTACAGAGTGTCCTACCGCACGGTGACGGTGCTGGAGTGGAGATGCTGCCCTGGCTTCACCGGGAGCAACTGTGATGAGGAATGC
ATGAACTGCACCCGGCTCAGTGACATGAGTGAGCGACTGACCACACTGGAGGCCAAGATTATTTGCATGGGTGCAAAAGAAAATGGTTTG
CCGCTGGAGTATCAAGAGAAGTTAAAAGCAATAGAACCAAATGACTATACAGGAAAGGTCTCAGAAGAAATTGAAGACATCATCAAAAAG
GGGGAAACACAAACTCTTTAGAACATAACAGAATATATCTAAGGGTATTCTATGTGCTAATATAAAATATTTTTAACACTTGAGAACAGG
GATCTGGGGGATCTCCACGTTTGATCCATTTTCAGCAGTGCTCTGAAGGAGTATCTTACTTGGGTGATTCCTTGTTTTTAGACTATAAAA
AGAAACTGGGATAGGAGTTAGACAATTTAAAAGGGGTGTATGAGGGCCTGAAATATGTGACAAATGAATGTGAGTACCCCTTCTGTGAAC
ACTGAAAGCTATTCTCTTGAATTGATCTTAAGTGTCTCCTTGCTCTGGTAAAAGATAGATTTGTAGCTCACTTGATGATGGTGCTGGTGA
ATTGCTCTGCTCTGTCTGAGATTTTTAAAAATCAGCTTAATGAGAGTAATCTGCAGACAATTGATAATAACATTTTGAAAATTGGAAAGA

>18257_18257_3_COL26A1-GGCT_COL26A1_chr7_101176424_ENST00000528707_GGCT_chr7_30536851_ENST00000409144_length(amino acids)=215AA_BP=1
MILQRQTIFFCTHANNLGLQCGQSLTHVTEPGAVHAFLITVAPGEARAASPLQHRHRAVGHSVGGSDQSPYEVGAGPRPPAALVHALDHR
LRAILHLAGHRPCHCVMAPVPAARVAAARGAGAGLGVAVLLQSCGREGIEEAGGQRRPAEAATRPGQEQGQLHRAQQPAGTRSPGHEDRQ

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

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Fusion Gene PPI Analysis for COL26A1-GGCT


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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Related Drugs for COL26A1-GGCT


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 COL26A1-GGCT


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