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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: 23502

FusionGeneSummary for NBEA_COLGALT2

check button Fusion gene summary
Fusion gene informationFusion gene name: NBEA_COLGALT2
Fusion gene ID: 23502
HgeneTgene
Gene symbol

NBEA

COLGALT2

Gene ID

26960

23127

Gene nameneurobeachincollagen beta(1-O)galactosyltransferase 2
SynonymsBCL8B|LYST2C1orf17|ColGalT 2|GLT25D2
Cytomap

13q13.3

1q25.3

Type of geneprotein-codingprotein-coding
Descriptionneurobeachinlysosomal-trafficking regulator 2procollagen galactosyltransferase 2glycosyltransferase 25 domain containing 2glycosyltransferase 25 family member 2hydroxylysine galactosyltransferase 2
Modification date2018051920180523
UniProtAcc

Q8NFP9

Q8IYK4

Ensembl transtripts involved in fusion geneENST00000540320, ENST00000400445, 
ENST00000310336, ENST00000379939, 
ENST00000537702, ENST00000379922, 
ENST00000461581, 		ENST00000546159, 
ENST00000486375, ENST00000367521, 
ENST00000361927, ENST00000367520, 
Fusion gene scores* DoF score7 X 7 X 6=2945 X 3 X 4=60
# samples 75
** MAII scorelog2(7/294*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NBEA [Title/Abstract] AND COLGALT2 [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
TCGALDPCPGTCGA-QT-A5XO-01ANBEAchr13

36046673

+COLGALT2chr1

183947654

-
* 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-shiftENST00000540320ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000540320ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000540320ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000540320ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000540320ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
Frame-shiftENST00000400445ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000400445ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000400445ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000400445ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000400445ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
Frame-shiftENST00000310336ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000310336ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000310336ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000310336ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000310336ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
Frame-shiftENST00000379939ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000379939ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000379939ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000379939ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000379939ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-3CDSENST00000537702ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000537702ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000537702ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000537702ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000537702ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-3CDSENST00000379922ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000379922ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000379922ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000379922ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000379922ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-3CDSENST00000461581ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000461581ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000461581ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000461581ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000461581ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-

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FusionProtFeatures for NBEA_COLGALT2


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

Q8NFP9

COLGALT2

Q8IYK4

Binds to type II regulatory subunits of protein kinase Aand anchors/targets them to the membrane. May anchor the kinase tocytoskeletal and/or organelle-associated proteins (By similarity).{ECO:0000250}. Beta-galactosyltransferase that transfers beta-galactoseto hydroxylysine residues of collagen.{ECO:0000269|PubMed:19075007}.

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 NBEA_COLGALT2


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 NBEA_COLGALT2


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
NBEASTRN4, DTNBP1, NOTCH1, VCP, FOSL2, RD3, TMEM17, PTPRH, ALOXE3, SHC4, RBM48, MRPL21, NAB2, STRADBCOLGALT2FBXO6, UBQLN1, C1QB, C1QTNF2, COLEC11, CNPY3, C1QTNF3, COLEC10, UBXN11, FCN1, C1QTNF9, SEMG1, EMID1, PSG9, COL8A2, TMEM255A, VPS33B, VIPAS39, COL4A1, COL2A1, SPATA20, COL4A2, COL1A1, COLQ, VWA1, DOK1, CNKSR3, TCF3, PCBP3, COL6A2, COL4A5, FAM136A, COLGALT1, COL10A1, SCARA5, OS9, CACNB4, MSR1, MRPS36


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 NBEA_COLGALT2


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 NBEA_COLGALT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNBEAC0004352Autistic Disorder2CTD_human
HgeneNBEAC0023893Liver Cirrhosis, Experimental1CTD_human