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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:TMEM117-COL25A1 (FusionGDB2 ID:91548)

Fusion Gene Summary for TMEM117-COL25A1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM117-COL25A1
Fusion gene ID: 91548
HgeneTgene
Gene symbol

TMEM117

COL25A1

Gene ID

84216

84570

Gene nametransmembrane protein 117collagen type XXV alpha 1 chain
Synonyms-AMY|CFEOM5|CLAC|CLAC-P|CLACP
Cytomap

12q12

4q25

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 117collagen alpha-1(XXV) chainalzheimer disease amyloid-associated proteincollagen-like Alzheimer amyloid plaque componentcollagenous Alzheimer amyloid plaque component
Modification date2020031320200313
UniProtAcc.

Q9BXS0

Ensembl transtripts involved in fusion geneENST00000266534, ENST00000536799, 
ENST00000551577, ENST00000546978, 
ENST00000399126, ENST00000399127, 
ENST00000399132, 
Fusion gene scores* DoF score20 X 12 X 9=21605 X 5 X 4=100
# samples 215
** MAII scorelog2(21/2160*10)=-3.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMEM117 [Title/Abstract] AND COL25A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMEM117(44338145)-COL25A1(109862593), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 TMEM117 (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 COL25A1 (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
ChimerDB4SKCMTCGA-EE-A20I-06ATMEM117chr12

44338145

-COL25A1chr4

109862593

-


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Fusion Gene ORF analysis for TMEM117-COL25A1

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-intronENST00000266534ENST00000399126TMEM117chr12

44338145

-COL25A1chr4

109862593

-
5CDS-intronENST00000266534ENST00000399127TMEM117chr12

44338145

-COL25A1chr4

109862593

-
5CDS-intronENST00000536799ENST00000399126TMEM117chr12

44338145

-COL25A1chr4

109862593

-
5CDS-intronENST00000536799ENST00000399127TMEM117chr12

44338145

-COL25A1chr4

109862593

-
5CDS-intronENST00000551577ENST00000399126TMEM117chr12

44338145

-COL25A1chr4

109862593

-
5CDS-intronENST00000551577ENST00000399127TMEM117chr12

44338145

-COL25A1chr4

109862593

-
Frame-shiftENST00000266534ENST00000399132TMEM117chr12

44338145

-COL25A1chr4

109862593

-
Frame-shiftENST00000551577ENST00000399132TMEM117chr12

44338145

-COL25A1chr4

109862593

-
In-frameENST00000536799ENST00000399132TMEM117chr12

44338145

-COL25A1chr4

109862593

-
intron-3CDSENST00000546978ENST00000399132TMEM117chr12

44338145

-COL25A1chr4

109862593

-
intron-intronENST00000546978ENST00000399126TMEM117chr12

44338145

-COL25A1chr4

109862593

-
intron-intronENST00000546978ENST00000399127TMEM117chr12

44338145

-COL25A1chr4

109862593

-

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)
ENST00000536799TMEM117chr1244338145-ENST00000399132COL25A1chr4109862593-189919801670556

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
ENST00000536799ENST00000399132TMEM117chr1244338145-COL25A1chr4109862593-0.0067582610.9932417

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Fusion Genomic Features for TMEM117-COL25A1


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 TMEM117-COL25A1


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/chr12:44338145/chr4:109862593)
- 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
.COL25A1

Q9BXS0

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: Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin. {ECO:0000269|PubMed:15522881, ECO:0000269|PubMed:15615705, ECO:0000269|PubMed:15853808, ECO:0000269|PubMed:16300410}.

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
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-381_15136515.0Topological domainCytoplasmic
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-3837_65136515.0Topological domainExtracellular
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-3887_110136515.0Topological domainCytoplasmic
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38111_131136515.0TransmembraneHelical
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-3816_36136515.0TransmembraneHelical
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-3866_86136515.0TransmembraneHelical
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399126735192_247164643.0DomainCollagen-like 2
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399126735249_308164643.0DomainCollagen-like 3
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399126735311_370164643.0DomainCollagen-like 4
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399126735372_425164643.0DomainCollagen-like 5
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399126735447_505164643.0DomainCollagen-like 6
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399126735571_630164643.0DomainCollagen-like 7
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399132738192_247164655.0DomainCollagen-like 2
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399132738249_308164655.0DomainCollagen-like 3
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399132738311_370164655.0DomainCollagen-like 4
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399132738372_425164655.0DomainCollagen-like 5
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399132738447_505164655.0DomainCollagen-like 6
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399132738571_630164655.0DomainCollagen-like 7

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38132_154136515.0Topological domainExtracellular
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38176_198136515.0Topological domainCytoplasmic
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38220_239136515.0Topological domainExtracellular
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38261_295136515.0Topological domainCytoplasmic
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38317_394136515.0Topological domainExtracellular
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38416_514136515.0Topological domainCytoplasmic
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38155_175136515.0TransmembraneHelical
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38199_219136515.0TransmembraneHelical
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38240_260136515.0TransmembraneHelical
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38296_316136515.0TransmembraneHelical
HgeneTMEM117chr12:44338145chr4:109862593ENST00000266534-38395_415136515.0TransmembraneHelical
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399126735121_164164643.0DomainCollagen-like 1
TgeneCOL25A1chr12:44338145chr4:109862593ENST00000399132738121_164164655.0DomainCollagen-like 1
TgeneCOL25A1chr12:44338145chr4:109862593ENST000003991267351_33164643.0Topological domainCytoplasmic
TgeneCOL25A1chr12:44338145chr4:109862593ENST0000039912673555_654164643.0Topological domainExtracellular
TgeneCOL25A1chr12:44338145chr4:109862593ENST000003991327381_33164655.0Topological domainCytoplasmic
TgeneCOL25A1chr12:44338145chr4:109862593ENST0000039913273855_654164655.0Topological domainExtracellular
TgeneCOL25A1chr12:44338145chr4:109862593ENST0000039912673534_54164643.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneCOL25A1chr12:44338145chr4:109862593ENST0000039913273834_54164655.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Gene Sequence for TMEM117-COL25A1


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.
>91548_91548_1_TMEM117-COL25A1_TMEM117_chr12_44338145_ENST00000536799_COL25A1_chr4_109862593_ENST00000399132_length(transcript)=1899nt_BP=198nt
ATGGCTACTTGCCATTCTCACAGGACTAATAGCTGGCAAATTTCTGTTCCATCAGCGTTTGTTTGGTCAGTTGCTCCGATTAAAAATGTT
TCGAGAAGATCATGGGTCGTGGATGACAATGTTCTTCAGCACAATTCTCTTTCTCTTCATATTTTCTCACATATACAACACGATTCTTCT
AATGGATGGGAACATGGGATGGTGTTTCCTAAAATCAATCATGGGTTTCTCTCTGCTGATCAGCAGCTCATTAAACGCCGCCTGATTAAG
GGTGACCAAGGACAGGCAGGGCCTCCAGGACCCCCTGGCCCTCCAGGCCCAAGAGGGCCACCTGGGGACACAGGGAAAGATGGCCCCCGT
GGAATGCCAGGAGTACCCGGTGAACCAGGAAAGCCAGGAGAACAAGGCTTGATGGGTCCTCTAGGGCCTCCGGGACAAAAGGGTTCTATT
GGAGCACCTGGAATTCCAGGGATGAATGGGCAAAAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAG
GGAGAACCTGGAGAACAAGGTGAAAAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGGTGACCCTGGATCATCT
GCTGCAGGAATTAAGGGAGAACCTGGGGAATCTGGTCGTCCAGGGCAAAAGGGTGAACCAGGGCTTCCTGGGCTTCCTGGACTTCCGGGG
ATAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGGTGAACGGGGGGAAGCAGGG
CCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGGGAAACAAGGTGAATCAGGAACTAGAGGCCCAAAGGGGTCA
AAGGGGGATCGTGGAGAAAAAGGGGACTCTGGAGCTCAGGGACCAAGGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATC
ATAGACTACAACGGCAACCTCCACGAAGCCTTACAGAGGATTACCACCTTAACTGTCACGGGTCCCCCTGGACCTCCTGGACCTCAAGGA
CTACAAGGGCCAAAGGGAGAGCAGGGATCTCCAGGAATCCCAGGAATGGATGGAGAGCAGGGACTCAAAGGCTCAAAGGGAGACATGGGG
GACCCAGGTATGACAGGTGAAAAAGGAGGAATTGGACTTCCTGGATTACCGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGA
ATGCCGGGTCCACAGGGTCCTTCTATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGGACCTCATGGACTT
CCTGGACCAAAGGGTACAGATGGTCCTATGGGACCCCATGGCCCTGCAGGTCCCAAAGGAGAAAGAGGTGAAAAAGGAGCTATGGGAGAG
CCTGGACCAAGAGGGCCCTATGGGCTGCCTGGGAAAGATGGAGAGCCTGGTCTTGATGGCTTCCCTGGTCCACGGGGTGAGAAGGGTGAT
CTAGGAGAAAAGGGAGAAAAGGGATTCCGTGGCGTTAAGGGGGAAAAAGGGGAGCCAGGCCAGCCTGGCCTGGATGGGCTGGATGCCCCT
TGCCAATTGGGGCCAGATGGCTTACCCATGCCTGGCTGTTGGCAAAAGTGATGAATCTAACCTTTCAAGCATGAAGTTGTGTATATAAGG
GTCCATTTTTAATATTTATAGTTGAAAACTGAATTGCAGATTTTACAAGTCTGAGATATGTTTACATAGGGCTGCTTCTTCCTGCTGGCA
GTAGTATACATGTCCATTTTTACTCCACTTACATCTGAAATTGGGCAATTTGTGAAACCAGTGAGAATCCTGCAAAAAATATAGATCAGT

>91548_91548_1_TMEM117-COL25A1_TMEM117_chr12_44338145_ENST00000536799_COL25A1_chr4_109862593_ENST00000399132_length(amino acids)=556AA_BP=66
MATCHSHRTNSWQISVPSAFVWSVAPIKNVSRRSWVVDDNVLQHNSLSLHIFSHIQHDSSNGWEHGMVFPKINHGFLSADQQLIKRRLIK
GDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPK
GEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAG
PPGRGERGEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQG
LQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGL
PGPKGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKGFRGVKGEKGEPGQPGLDGLDAP

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

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Fusion Gene PPI Analysis for TMEM117-COL25A1


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 TMEM117-COL25A1


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 TMEM117-COL25A1


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