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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: 8026

FusionGeneSummary for COLGALT1_MVB12A

check button Fusion gene summary
Fusion gene informationFusion gene name: COLGALT1_MVB12A
Fusion gene ID: 8026
HgeneTgene
Gene symbol

COLGALT1

MVB12A

Gene ID

79709

93343

Gene namecollagen beta(1-O)galactosyltransferase 1multivesicular body subunit 12A
SynonymsColGalT 1|GLT25D1CFBP|FAM125A
Cytomap

19p13.11

19p13.11

Type of geneprotein-codingprotein-coding
Descriptionprocollagen galactosyltransferase 1glycosyltransferase 25 domain containing 1glycosyltransferase 25 family member 1hydroxylysine galactosyltransferase 1multivesicular body subunit 12ACIN85/CD2AP family binding proteinESCRT-I complex subunit MVB12Afamily with sequence similarity 125, member A
Modification date2018052320180522
UniProtAcc

Q8NBJ5

Q96EY5

Ensembl transtripts involved in fusion geneENST00000252599, ENST00000601354, 
ENST00000529490, ENST00000317040, 
ENST00000392702, ENST00000529939, 
ENST00000528515, ENST00000543795, 
Fusion gene scores* DoF score7 X 6 X 4=1682 X 2 X 2=8
# samples 62
** MAII scorelog2(6/168*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: COLGALT1 [Title/Abstract] AND MVB12A [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
TCGALDBRCATCGA-BH-A1FD-01ACOLGALT1chr19

17671274

+MVB12Achr19

17531122

+
* 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
5CDS-intronENST00000252599ENST00000529490COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
5CDS-intronENST00000252599ENST00000317040COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
5CDS-intronENST00000252599ENST00000392702COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
5CDS-intronENST00000252599ENST00000529939COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
5CDS-intronENST00000252599ENST00000528515COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
5CDS-intronENST00000252599ENST00000543795COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
intron-intronENST00000601354ENST00000529490COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
intron-intronENST00000601354ENST00000317040COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
intron-intronENST00000601354ENST00000392702COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
intron-intronENST00000601354ENST00000529939COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
intron-intronENST00000601354ENST00000528515COLGALT1chr19

17671274

+MVB12Achr19

17531122

+
intron-intronENST00000601354ENST00000543795COLGALT1chr19

17671274

+MVB12Achr19

17531122

+

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FusionProtFeatures for COLGALT1_MVB12A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COLGALT1

Q8NBJ5

MVB12A

Q96EY5

Beta-galactosyltransferase that transfers beta-galactoseto hydroxylysine residues of type I collagen (PubMed:19075007,PubMed:22216269, PubMed:27402836). By acting on collagenglycosylation, facilitates the formation of collagen triple helix(PubMed:27402836). {ECO:0000269|PubMed:19075007,ECO:0000269|PubMed:22216269, ECO:0000269|PubMed:27402836}. Component of the ESCRT-I complex, a regulator ofvesicular trafficking process. Required for the sorting ofendocytic ubiquitinated cargos into multivesicular bodies. May beinvolved in the ligand-mediated internalization and down-regulation of EGF receptor. {ECO:0000269|PubMed:16895919}.

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 COLGALT1_MVB12A


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for COLGALT1_MVB12A


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
COLGALT1VHL, ELAVL1, FBXO6, STRIP1, HSPD1, OS9, ATF2, RNF2, PLOD1, PLOD2, PLOD3, PRPF40A, PYGL, NTRK1, TCTN1, PML, TGM2, NANOG, POU5F1, UBLCP1, PTPRN, COLGALT2, PDHA1, TRIM25MVB12ATSG101, VPS37A, CD2AP, SH3KBP1, MVB12B, CEP55, APP, VPS37B, VPS37C, CIDEB, SLC25A41, TAS2R7, VPS28, ARFIP1, CEP41, SMCHD1, WARS, XPO1, CHMP4B, GRB2, MANSC1, UBE2U, CDK5R1


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 COLGALT1_MVB12A


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 COLGALT1_MVB12A


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