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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: 9989

FusionGeneSummary for DIP2A_COL6A2

check button Fusion gene summary
Fusion gene informationFusion gene name: DIP2A_COL6A2
Fusion gene ID: 9989
HgeneTgene
Gene symbol

DIP2A

COL6A2

Gene ID

23181

1292

Gene namedisco interacting protein 2 homolog Acollagen type VI alpha 2 chain
SynonymsC21orf106|DIP2BTHLM1|PP3610|UCMD1
Cytomap

21q22.3

21q22.3

Type of geneprotein-codingprotein-coding
Descriptiondisco-interacting protein 2 homolog ADIP2 disco-interacting protein 2 homolog ADIP2 homolog Adisco-interacting protein 2Acollagen alpha-2(VI) chaincollagen VI, alpha-2 polypeptidecollagen, type VI, alpha 2human mRNA for collagen VI alpha-2 C-terminal globular domain
Modification date2018052320180523
UniProtAcc

Q14689

P12110

Ensembl transtripts involved in fusion geneENST00000400274, ENST00000427143, 
ENST00000318711, ENST00000417564, 
ENST00000457905, ENST00000466639, 
ENST00000435722, ENST00000479654, 
ENST00000300527, ENST00000310645, 
ENST00000357838, ENST00000409416, 
ENST00000397763, ENST00000460886, 
Fusion gene scores* DoF score9 X 8 X 7=5048 X 7 X 3=168
# samples 88
** MAII scorelog2(8/504*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIP2A [Title/Abstract] AND COL6A2 [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
HgeneDIP2A

GO:0010629

negative regulation of gene expression

20860622


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
TCGALDPRADTCGA-HC-8265-01ADIP2Achr21

47961808

+COL6A2chr21

47531364

+
* 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-5UTRENST00000400274ENST00000300527DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000400274ENST00000310645DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000400274ENST00000357838DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000400274ENST00000409416DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000400274ENST00000397763DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-intronENST00000400274ENST00000460886DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000427143ENST00000300527DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000427143ENST00000310645DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000427143ENST00000357838DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000427143ENST00000409416DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000427143ENST00000397763DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-intronENST00000427143ENST00000460886DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000318711ENST00000300527DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000318711ENST00000310645DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000318711ENST00000357838DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000318711ENST00000409416DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000318711ENST00000397763DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-intronENST00000318711ENST00000460886DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000417564ENST00000300527DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000417564ENST00000310645DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000417564ENST00000357838DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000417564ENST00000409416DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000417564ENST00000397763DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-intronENST00000417564ENST00000460886DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000457905ENST00000300527DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000457905ENST00000310645DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000457905ENST00000357838DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000457905ENST00000409416DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000457905ENST00000397763DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-intronENST00000457905ENST00000460886DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000466639ENST00000300527DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000466639ENST00000310645DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000466639ENST00000357838DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000466639ENST00000409416DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000466639ENST00000397763DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-intronENST00000466639ENST00000460886DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000435722ENST00000300527DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000435722ENST00000310645DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000435722ENST00000357838DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000435722ENST00000409416DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-5UTRENST00000435722ENST00000397763DIP2Achr21

47961808

+COL6A2chr21

47531364

+
5CDS-intronENST00000435722ENST00000460886DIP2Achr21

47961808

+COL6A2chr21

47531364

+
intron-5UTRENST00000479654ENST00000300527DIP2Achr21

47961808

+COL6A2chr21

47531364

+
intron-5UTRENST00000479654ENST00000310645DIP2Achr21

47961808

+COL6A2chr21

47531364

+
intron-5UTRENST00000479654ENST00000357838DIP2Achr21

47961808

+COL6A2chr21

47531364

+
intron-5UTRENST00000479654ENST00000409416DIP2Achr21

47961808

+COL6A2chr21

47531364

+
intron-5UTRENST00000479654ENST00000397763DIP2Achr21

47961808

+COL6A2chr21

47531364

+
intron-intronENST00000479654ENST00000460886DIP2Achr21

47961808

+COL6A2chr21

47531364

+

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FusionProtFeatures for DIP2A_COL6A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DIP2A

Q14689

COL6A2

P12110

May provide positional cues for axon pathfinding andpatterning in the central nervous system.

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 DIP2A_COL6A2


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 DIP2A_COL6A2


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
DIP2AMRGBP, JMJD6, AES, PTPN3, TRIP13, TMCC2, SORBS3, PSME3, ZBTB43, MBIP, ADAMTSL4, GPATCH2L, TRIM39, CCDC33, FAM214B, CEP44, STAC3, NXF1, SPINT2, EFNB2, TEX264, TGFBR2, BTN2A1, DLK1, LPCAT1, PTGER3, THBS3, C1orf186, EGFR, HAVCR2, MANSC1, SELE, TPCN2, SSSCA1, IL20RACOL6A2COX6A2, SLC38A3, C1QTNF2, TAZ, CA10, COL9A1, C1QTNF9, WNT10B, PTPRK, VEGFB, OBP2A, PRG2, MMP9, LYZL2, FAM19A3, INSL5, FAM19A4, PLOD1, MMP2, DEFB121, SCGB1D4, COLGALT2, DKKL1, PLA2G10, LYZL1, LYPD1, XCL1


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 DIP2A_COL6A2


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 DIP2A_COL6A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL6A2C1834674Bethlem myopathy4CTD_human;ORPHANET;UNIPROT
TgeneCOL6A2C0410179Scleroatonic muscular dystrophy2CTD_human;ORPHANET;UNIPROT
TgeneCOL6A2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL6A2C0029408Degenerative polyarthritis1CTD_human