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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: 38367

FusionGeneSummary for TMEM117_COL25A1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM117_COL25A1
Fusion gene ID: 38367
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 date2018032920180523
UniProtAcc

Q9H0C3

Q9BXS0

Ensembl transtripts involved in fusion geneENST00000551577, ENST00000266534, 
ENST00000536799, ENST00000546978, 
ENST00000399132, ENST00000399127, 
ENST00000399126, 
Fusion gene scores* DoF score11 X 6 X 7=4623 X 3 X 3=27
# samples 113
** MAII scorelog2(11/462*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TMEM117 [Title/Abstract] AND COL25A1 [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

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
TCGARVSKCMTCGA-EE-A20I-06ATMEM117chr12

44338145

+COL25A1chr4

109862593

-
* 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-shiftENST00000551577ENST00000399132TMEM117chr12

44338145

+COL25A1chr4

109862593

-
5CDS-intronENST00000551577ENST00000399127TMEM117chr12

44338145

+COL25A1chr4

109862593

-
5CDS-intronENST00000551577ENST00000399126TMEM117chr12

44338145

+COL25A1chr4

109862593

-
Frame-shiftENST00000266534ENST00000399132TMEM117chr12

44338145

+COL25A1chr4

109862593

-
5CDS-intronENST00000266534ENST00000399127TMEM117chr12

44338145

+COL25A1chr4

109862593

-
5CDS-intronENST00000266534ENST00000399126TMEM117chr12

44338145

+COL25A1chr4

109862593

-
In-frameENST00000536799ENST00000399132TMEM117chr12

44338145

+COL25A1chr4

109862593

-
5CDS-intronENST00000536799ENST00000399127TMEM117chr12

44338145

+COL25A1chr4

109862593

-
5CDS-intronENST00000536799ENST00000399126TMEM117chr12

44338145

+COL25A1chr4

109862593

-
intron-3CDSENST00000546978ENST00000399132TMEM117chr12

44338145

+COL25A1chr4

109862593

-
intron-intronENST00000546978ENST00000399127TMEM117chr12

44338145

+COL25A1chr4

109862593

-
intron-intronENST00000546978ENST00000399126TMEM117chr12

44338145

+COL25A1chr4

109862593

-

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FusionProtFeatures for TMEM117_COL25A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM117

Q9H0C3

COL25A1

Q9BXS0

Involved in endoplasmic reticulum (ER) stress-inducedcell death pathway. {ECO:0000269|PubMed:28285135}. Inhibits fibrillization of amyloid-beta peptide duringthe elongation phase. Has also been shown to assemble amyloidfibrils 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

- 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 TMEM117_COL25A1


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.
>In-frame_TMEM117_ENST00000536799_chr12_44338145_+_COL25A1_ENST00000399132_chr4_109862593_-_557aa
MATCHSHRTNSWQISVPSAFVWSVAPIKNVSRRSWVVDDNVLQHNSLSLHIFSHIQHDSSNGWEHGMVFPKINHGFLSADQQLIKRRLIK
GDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPK
GEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAG
PPGRGERGEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQG
LQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGL
PGPKGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKGFRGVKGEKGEPGQPGLDGLDAP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_TMEM117_ENST00000536799_chr12_44338145_+_COL25A1_ENST00000399132_chr4_109862593_-_1671nt
ATGGCTACTTGCCATTCTCACAGGACTAATAGCTGGCAAATTTCTGTTCCATCAGCGTTTGTTTGGTCAGTTGCTCCGATTAAAAATGTT
TCGAGAAGATCATGGGTCGTGGATGACAATGTTCTTCAGCACAATTCTCTTTCTCTTCATATTTTCTCACATATACAACACGATTCTTCT
AATGGATGGGAACATGGGATGGTGTTTCCTAAAATCAATCATGGGTTTCTCTCTGCTGATCAGCAGCTCATTAAACGCCGCCTGATTAAG
GGTGACCAAGGACAGGCAGGGCCTCCAGGACCCCCTGGCCCTCCAGGCCCAAGAGGGCCACCTGGGGACACAGGGAAAGATGGCCCCCGT
GGAATGCCAGGAGTACCCGGTGAACCAGGAAAGCCAGGAGAACAAGGCTTGATGGGTCCTCTAGGGCCTCCGGGACAAAAGGGTTCTATT
GGAGCACCTGGAATTCCAGGGATGAATGGGCAAAAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAG
GGAGAACCTGGAGAACAAGGTGAAAAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGGTGACCCTGGATCATCT
GCTGCAGGAATTAAGGGAGAACCTGGGGAATCTGGTCGTCCAGGGCAAAAGGGTGAACCAGGGCTTCCTGGGCTTCCTGGACTTCCGGGG
ATAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGGTGAACGGGGGGAAGCAGGG
CCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGGGAAACAAGGTGAATCAGGAACTAGAGGCCCAAAGGGGTCA
AAGGGGGATCGTGGAGAAAAAGGGGACTCTGGAGCTCAGGGACCAAGGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATC
ATAGACTACAACGGCAACCTCCACGAAGCCTTACAGAGGATTACCACCTTAACTGTCACGGGTCCCCCTGGACCTCCTGGACCTCAAGGA
CTACAAGGGCCAAAGGGAGAGCAGGGATCTCCAGGAATCCCAGGAATGGATGGAGAGCAGGGACTCAAAGGCTCAAAGGGAGACATGGGG
GACCCAGGTATGACAGGTGAAAAAGGAGGAATTGGACTTCCTGGATTACCGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGA
ATGCCGGGTCCACAGGGTCCTTCTATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGGACCTCATGGACTT
CCTGGACCAAAGGGTACAGATGGTCCTATGGGACCCCATGGCCCTGCAGGTCCCAAAGGAGAAAGAGGTGAAAAAGGAGCTATGGGAGAG
CCTGGACCAAGAGGGCCCTATGGGCTGCCTGGGAAAGATGGAGAGCCTGGTCTTGATGGCTTCCCTGGTCCACGGGGTGAGAAGGGTGAT
CTAGGAGAAAAGGGAGAAAAGGGATTCCGTGGCGTTAAGGGGGAAAAAGGGGAGCCAGGCCAGCCTGGCCTGGATGGGCTGGATGCCCCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_TMEM117_ENST00000536799_chr12_44338145_+_COL25A1_ENST00000399132_chr4_109862593_-_1899nt
ATGGCTACTTGCCATTCTCACAGGACTAATAGCTGGCAAATTTCTGTTCCATCAGCGTTTGTTTGGTCAGTTGCTCCGATTAAAAATGTT
TCGAGAAGATCATGGGTCGTGGATGACAATGTTCTTCAGCACAATTCTCTTTCTCTTCATATTTTCTCACATATACAACACGATTCTTCT
AATGGATGGGAACATGGGATGGTGTTTCCTAAAATCAATCATGGGTTTCTCTCTGCTGATCAGCAGCTCATTAAACGCCGCCTGATTAAG
GGTGACCAAGGACAGGCAGGGCCTCCAGGACCCCCTGGCCCTCCAGGCCCAAGAGGGCCACCTGGGGACACAGGGAAAGATGGCCCCCGT
GGAATGCCAGGAGTACCCGGTGAACCAGGAAAGCCAGGAGAACAAGGCTTGATGGGTCCTCTAGGGCCTCCGGGACAAAAGGGTTCTATT
GGAGCACCTGGAATTCCAGGGATGAATGGGCAAAAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAG
GGAGAACCTGGAGAACAAGGTGAAAAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGGTGACCCTGGATCATCT
GCTGCAGGAATTAAGGGAGAACCTGGGGAATCTGGTCGTCCAGGGCAAAAGGGTGAACCAGGGCTTCCTGGGCTTCCTGGACTTCCGGGG
ATAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGGTGAACGGGGGGAAGCAGGG
CCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGGGAAACAAGGTGAATCAGGAACTAGAGGCCCAAAGGGGTCA
AAGGGGGATCGTGGAGAAAAAGGGGACTCTGGAGCTCAGGGACCAAGGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATC
ATAGACTACAACGGCAACCTCCACGAAGCCTTACAGAGGATTACCACCTTAACTGTCACGGGTCCCCCTGGACCTCCTGGACCTCAAGGA
CTACAAGGGCCAAAGGGAGAGCAGGGATCTCCAGGAATCCCAGGAATGGATGGAGAGCAGGGACTCAAAGGCTCAAAGGGAGACATGGGG
GACCCAGGTATGACAGGTGAAAAAGGAGGAATTGGACTTCCTGGATTACCGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGA
ATGCCGGGTCCACAGGGTCCTTCTATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGGACCTCATGGACTT
CCTGGACCAAAGGGTACAGATGGTCCTATGGGACCCCATGGCCCTGCAGGTCCCAAAGGAGAAAGAGGTGAAAAAGGAGCTATGGGAGAG
CCTGGACCAAGAGGGCCCTATGGGCTGCCTGGGAAAGATGGAGAGCCTGGTCTTGATGGCTTCCCTGGTCCACGGGGTGAGAAGGGTGAT
CTAGGAGAAAAGGGAGAAAAGGGATTCCGTGGCGTTAAGGGGGAAAAAGGGGAGCCAGGCCAGCCTGGCCTGGATGGGCTGGATGCCCCT
TGCCAATTGGGGCCAGATGGCTTACCCATGCCTGGCTGTTGGCAAAAGTGATGAATCTAACCTTTCAAGCATGAAGTTGTGTATATAAGG
GTCCATTTTTAATATTTATAGTTGAAAACTGAATTGCAGATTTTACAAGTCTGAGATATGTTTACATAGGGCTGCTTCTTCCTGCTGGCA
GTAGTATACATGTCCATTTTTACTCCACTTACATCTGAAATTGGGCAATTTGTGAAACCAGTGAGAATCCTGCAAAAAATATAGATCAGT


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FusionGenePPI 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
TMEM117COL25A1APP, COL25A1, PLOD1


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 TMEM117_COL25A1


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 TMEM117_COL25A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMEM117C0008370Cholestasis1CTD_human
HgeneTMEM117C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneCOL25A1C4015552FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 51UNIPROT