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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: 35552

FusionGeneSummary for SPARC_COL2A1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPARC_COL2A1
Fusion gene ID: 35552
HgeneTgene
Gene symbol

SPARC

COL2A1

Gene ID

6678

1280

Gene namesecreted protein acidic and cysteine richcollagen type II alpha 1 chain
SynonymsBM-40|OI17|ONANFH|AOM|COL11A3|SEDC|STL1
Cytomap

5q33.1

12q13.11

Type of geneprotein-codingprotein-coding
DescriptionSPARCbasement-membrane protein 40secreted protein, acidic, cysteine-rich (osteonectin)collagen alpha-1(II) chainalpha-1 type II collagenarthroophthalmopathy, progressive (Stickler syndrome)cartilage collagenchondrocalcincollagen II, alpha-1 polypeptidecollagen, type II, alpha 1
Modification date2018052320180523
UniProtAcc

P09486

P02458

Ensembl transtripts involved in fusion geneENST00000231061, ENST00000537849, 
ENST00000380518, ENST00000493991, 
ENST00000337299, 
Fusion gene scores* DoF score12 X 16 X 5=9605 X 6 X 4=120
# samples 186
** MAII scorelog2(18/960*10)=-2.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPARC [Title/Abstract] AND COL2A1 [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
HgeneSPARC

GO:0001937

negative regulation of endothelial cell proliferation

12867428

HgeneSPARC

GO:0010595

positive regulation of endothelial cell migration

12867428

HgeneSPARC

GO:0016525

negative regulation of angiogenesis

12867428

HgeneSPARC

GO:0022604

regulation of cell morphogenesis

15389586


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
ChiTaRS3.1DV462786SPARCchr5

151042263

-COL2A1chr12

48367008

-
* 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
intron-3UTRENST00000231061ENST00000380518SPARCchr5

151042263

-COL2A1chr12

48367008

-
intron-5UTRENST00000231061ENST00000493991SPARCchr5

151042263

-COL2A1chr12

48367008

-
intron-intronENST00000231061ENST00000337299SPARCchr5

151042263

-COL2A1chr12

48367008

-
intron-3UTRENST00000537849ENST00000380518SPARCchr5

151042263

-COL2A1chr12

48367008

-
intron-5UTRENST00000537849ENST00000493991SPARCchr5

151042263

-COL2A1chr12

48367008

-
intron-intronENST00000537849ENST00000337299SPARCchr5

151042263

-COL2A1chr12

48367008

-

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FusionProtFeatures for SPARC_COL2A1


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

P09486

COL2A1

P02458

Appears to regulate cell growth through interactionswith the extracellular matrix and cytokines. Binds calcium andcopper, several types of collagen, albumin, thrombospondin, PDGFand cell membranes. There are two calcium binding sites; an acidicdomain that binds 5 to 8 Ca(2+) with a low affinity and an EF-handloop that binds a Ca(2+) ion with a high affinity.

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 SPARC_COL2A1


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 SPARC_COL2A1


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 SPARC_COL2A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSPARCP09486DB11093Calcium CitrateSPARCsmall moleculeapproved
HgeneSPARCP09486DB11348Calcium PhosphateSPARCsmall moleculeapproved
TgeneCOL2A1P02458DB00048Collagenase clostridium histolyticumCollagen alpha-1(II) chain {ECO:0000305}biotechapproved|investigational

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RelatedDiseases for SPARC_COL2A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPARCC0023893Liver Cirrhosis, Experimental2CTD_human
HgeneSPARCC0009375Colonic Neoplasms1CTD_human
HgeneSPARCC0009404Colorectal Neoplasms1CTD_human
HgeneSPARCC0019158Hepatitis1CTD_human
HgeneSPARCC0020429Hyperalgesia1CTD_human
HgeneSPARCC0022658Kidney Diseases1CTD_human
HgeneSPARCC0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneSPARCC0023890Liver Cirrhosis1CTD_human
HgeneSPARCC0024031Low Back Pain1CTD_human
HgeneSPARCC0026764Multiple Myeloma1CTD_human
HgeneSPARCC0027540Necrosis1CTD_human
HgeneSPARCC0027659Neoplasms, Experimental1CTD_human
HgeneSPARCC0029434Osteogenesis Imperfecta1CTD_human
HgeneSPARCC0041948Uremia1CTD_human
HgeneSPARCC0043094Weight Gain1CTD_human
HgeneSPARCC0151744Myocardial Ischemia1CTD_human
HgeneSPARCC0158266Intervertebral Disc Degeneration1CTD_human
HgeneSPARCC0206686Adrenocortical carcinoma1CTD_human
HgeneSPARCC0919267ovarian neoplasm1CTD_human
HgeneSPARCC4225301OSTEOGENESIS IMPERFECTA, TYPE XVII1UNIPROT
TgeneCOL2A1C0220685Achondrogenesis type 29CTD_human;ORPHANET;UNIPROT
TgeneCOL2A1C0993582Arthritis, Experimental7CTD_human
TgeneCOL2A1C2745959Spondyloepiphyseal dysplasia, congenita7CTD_human;ORPHANET;UNIPROT
TgeneCOL2A1C1858079Osteoarthritis with Mild Chondrodysplasia5CTD_human;ORPHANET;UNIPROT
TgeneCOL2A1C1836080Stickler Syndrome, Type I, Nonsyndromic Ocular4CTD_human;ORPHANET;UNIPROT
TgeneCOL2A1C1836683Czech dysplasia, metatarsal type4ORPHANET;UNIPROT
TgeneCOL2A1C0410480Avascular Necrosis of Femur Head3ORPHANET;UNIPROT
TgeneCOL2A1C1835437Platyspondylic Lethal Skeletal Dysplasia, Torrance Type3CTD_human;ORPHANET;UNIPROT
TgeneCOL2A1C0003864Arthritis2CTD_human
TgeneCOL2A1C0029408Degenerative polyarthritis2CTD_human;HPO
TgeneCOL2A1C0265279Kniest dysplasia2CTD_human;ORPHANET;UNIPROT
TgeneCOL2A1C0376634Craniofacial Abnormalities2CTD_human
TgeneCOL2A1C0700635Strudwick syndrome2CTD_human;HPO;ORPHANET;UNIPROT
TgeneCOL2A1C1851536Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness2CTD_human;ORPHANET;UNIPROT
TgeneCOL2A1C2020284Stickler syndrome, type 12CTD_human;ORPHANET;UNIPROT
TgeneCOL2A1C0008479Chondrosarcoma1CTD_human
TgeneCOL2A1C0008925Cleft Palate1CTD_human;HPO
TgeneCOL2A1C0013604Edema1CTD_human;HPO
TgeneCOL2A1C0018784Sensorineural Hearing Loss (disorder)1CTD_human;HPO
TgeneCOL2A1C0020507Hyperplasia1CTD_human
TgeneCOL2A1C0021368Inflammation1CTD_human
TgeneCOL2A1C0025202melanoma1CTD_human
TgeneCOL2A1C0027092Myopia1CTD_human;HPO
TgeneCOL2A1C0029422Osteochondrodysplasias1CTD_human;HPO
TgeneCOL2A1C0035305Retinal Detachment1CTD_human;HPO
TgeneCOL2A1C0039103Synovitis1CTD_human
TgeneCOL2A1C0041834Erythema1CTD_human
TgeneCOL2A1C0086543Cataract1CTD_human;HPO
TgeneCOL2A1C1262477Weight decreased1CTD_human
TgeneCOL2A1C1840452Hyaloideoretinal degeneration of Wagner1CTD_human
TgeneCOL2A1C1855310Megaepiphyseal dwarfism1CTD_human
TgeneCOL2A1C4225273SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE1ORPHANET;UNIPROT