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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: 7923

FusionGeneSummary for COL2A1_MAP3K14-AS1

check button Fusion gene summary
Fusion gene informationFusion gene name: COL2A1_MAP3K14-AS1
Fusion gene ID: 7923
HgeneTgene
Gene symbol

COL2A1

MAP3K14-AS1

Gene ID

1280

100133991

Gene namecollagen type II alpha 1 chainMAP3K14 antisense RNA 1
SynonymsANFH|AOM|COL11A3|SEDC|STL1-
Cytomap

12q13.11

17q21.31

Type of geneprotein-codingncRNA
Descriptioncollagen alpha-1(II) chainalpha-1 type II collagenarthroophthalmopathy, progressive (Stickler syndrome)cartilage collagenchondrocalcincollagen II, alpha-1 polypeptidecollagen, type II, alpha 1-
Modification date2018052320180329
UniProtAcc

P02458

Ensembl transtripts involved in fusion geneENST00000380518, ENST00000493991, 
ENST00000337299, 
ENST00000591263, 
ENST00000588504, ENST00000590100, 
ENST00000585346, ENST00000592422, 
ENST00000588698, ENST00000588160, 
ENST00000585780, ENST00000586450, 
ENST00000585351, 
Fusion gene scores* DoF score4 X 5 X 2=402 X 2 X 1=4
# samples 52
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: COL2A1 [Title/Abstract] AND MAP3K14-AS1 [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
ChiTaRS3.1CN278386COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
* 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-intronENST00000380518ENST00000591263COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000380518ENST00000588504COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000380518ENST00000590100COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000380518ENST00000585346COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000380518ENST00000592422COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000380518ENST00000588698COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000380518ENST00000588160COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000380518ENST00000585780COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000380518ENST00000586450COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000380518ENST00000585351COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000591263COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000588504COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000590100COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000585346COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000592422COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000588698COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000588160COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000585780COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000586450COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
intron-intronENST00000493991ENST00000585351COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000591263COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000588504COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000590100COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000585346COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000592422COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000588698COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000588160COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000585780COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000586450COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-
5CDS-intronENST00000337299ENST00000585351COL2A1chr12

48388206

-MAP3K14-AS1chr17

43337533

-

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FusionProtFeatures for COL2A1_MAP3K14-AS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL2A1

P02458

MAP3K14-AS1

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 COL2A1_MAP3K14-AS1


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 COL2A1_MAP3K14-AS1


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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RelatedDrugs for COL2A1_MAP3K14-AS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOL2A1P02458DB00048Collagenase clostridium histolyticumCollagen alpha-1(II) chain {ECO:0000305}biotechapproved|investigational

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RelatedDiseases for COL2A1_MAP3K14-AS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL2A1C0220685Achondrogenesis type 29CTD_human;ORPHANET;UNIPROT
HgeneCOL2A1C0993582Arthritis, Experimental7CTD_human
HgeneCOL2A1C2745959Spondyloepiphyseal dysplasia, congenita7CTD_human;ORPHANET;UNIPROT
HgeneCOL2A1C1858079Osteoarthritis with Mild Chondrodysplasia5CTD_human;ORPHANET;UNIPROT
HgeneCOL2A1C1836080Stickler Syndrome, Type I, Nonsyndromic Ocular4CTD_human;ORPHANET;UNIPROT
HgeneCOL2A1C1836683Czech dysplasia, metatarsal type4ORPHANET;UNIPROT
HgeneCOL2A1C0410480Avascular Necrosis of Femur Head3ORPHANET;UNIPROT
HgeneCOL2A1C1835437Platyspondylic Lethal Skeletal Dysplasia, Torrance Type3CTD_human;ORPHANET;UNIPROT
HgeneCOL2A1C0003864Arthritis2CTD_human
HgeneCOL2A1C0029408Degenerative polyarthritis2CTD_human;HPO
HgeneCOL2A1C0265279Kniest dysplasia2CTD_human;ORPHANET;UNIPROT
HgeneCOL2A1C0376634Craniofacial Abnormalities2CTD_human
HgeneCOL2A1C0700635Strudwick syndrome2CTD_human;HPO;ORPHANET;UNIPROT
HgeneCOL2A1C1851536Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness2CTD_human;ORPHANET;UNIPROT
HgeneCOL2A1C2020284Stickler syndrome, type 12CTD_human;ORPHANET;UNIPROT
HgeneCOL2A1C0008479Chondrosarcoma1CTD_human
HgeneCOL2A1C0008925Cleft Palate1CTD_human;HPO
HgeneCOL2A1C0013604Edema1CTD_human;HPO
HgeneCOL2A1C0018784Sensorineural Hearing Loss (disorder)1CTD_human;HPO
HgeneCOL2A1C0020507Hyperplasia1CTD_human
HgeneCOL2A1C0021368Inflammation1CTD_human
HgeneCOL2A1C0025202melanoma1CTD_human
HgeneCOL2A1C0027092Myopia1CTD_human;HPO
HgeneCOL2A1C0029422Osteochondrodysplasias1CTD_human;HPO
HgeneCOL2A1C0035305Retinal Detachment1CTD_human;HPO
HgeneCOL2A1C0039103Synovitis1CTD_human
HgeneCOL2A1C0041834Erythema1CTD_human
HgeneCOL2A1C0086543Cataract1CTD_human;HPO
HgeneCOL2A1C1262477Weight decreased1CTD_human
HgeneCOL2A1C1840452Hyaloideoretinal degeneration of Wagner1CTD_human
HgeneCOL2A1C1855310Megaepiphyseal dwarfism1CTD_human
HgeneCOL2A1C4225273SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE1ORPHANET;UNIPROT