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Fusion gene ID: 14335 |
FusionGeneSummary for GALNT7_COL1A2 |
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Fusion gene information | Fusion gene name: GALNT7_COL1A2 | Fusion gene ID: 14335 | Hgene | Tgene | Gene symbol | GALNT7 | COL1A2 | Gene ID | 117248 | 1278 |
Gene name | polypeptide N-acetylgalactosaminyltransferase 15 | collagen type I alpha 2 chain | |
Synonyms | GALNACT15|GALNT13|GALNT7|GALNTL2|PIH5|pp-GalNAc-T15 | EDSARTH2|EDSCV|OI4 | |
Cytomap | 3p25.1 | 7q21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | polypeptide N-acetylgalactosaminyltransferase 15UDP-GalNAc transferase T15UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 2UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15UDP-N-acetyl-alpha-D-ga | collagen alpha-2(I) chainalpha 2 type I procollagenalpha 2(I) procollagenalpha 2(I)-collagenalpha-2 type I collagencollagen I, alpha-2 polypeptidecollagen of skin, tendon and bone, alpha-2 chaincollagen, type I, alpha 2type I procollagen | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | Q86SF2 | P08123 | |
Ensembl transtripts involved in fusion gene | ENST00000265000, ENST00000512285, ENST00000502407, | ENST00000297268, | |
Fusion gene scores | * DoF score | 7 X 6 X 4=168 | 17 X 22 X 6=2244 |
# samples | 10 | 22 | |
** MAII score | log2(10/168*10)=-0.748461233004036 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2244*10)=-3.35049724708413 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GALNT7 [Title/Abstract] AND COL1A2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | COL1A2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 17217948 |
Tgene | COL1A2 | GO:0007266 | Rho protein signal transduction | 17217948 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BQ004985 | GALNT7 | chr4 | 174137360 | + | COL1A2 | chr7 | 94047144 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000265000 | ENST00000297268 | GALNT7 | chr4 | 174137360 | + | COL1A2 | chr7 | 94047144 | - |
intron-intron | ENST00000512285 | ENST00000297268 | GALNT7 | chr4 | 174137360 | + | COL1A2 | chr7 | 94047144 | - |
intron-intron | ENST00000502407 | ENST00000297268 | GALNT7 | chr4 | 174137360 | + | COL1A2 | chr7 | 94047144 | - |
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FusionProtFeatures for GALNT7_COL1A2 |
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Hgene | Tgene |
GALNT7 | COL1A2 |
Glycopeptide transferase involved in O-linkedoligosaccharide biosynthesis, which catalyzes the transfer of anN-acetyl-D-galactosamine residue to an already glycosylatedpeptide. In contrast to other proteins of the family, it does notact as a peptide transferase that transfers GalNAc onto serine orthreonine residue on the protein receptor, but instead requiresthe prior addition of a GalNAc on a peptide before addingadditional GalNAc moieties. Some peptide transferase activity ishowever not excluded, considering that its appropriate peptidesubstrate may remain unidentified. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for GALNT7_COL1A2 |
![]() (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 GALNT7_COL1A2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for GALNT7_COL1A2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | COL1A2 | P08123 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-2(I) chain | biotech | approved|investigational |
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RelatedDiseases for GALNT7_COL1A2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | COL1A2 | C0268362 | Osteogenesis imperfecta type III (disorder) | 17 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A2 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 14 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A2 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 11 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A2 | C0023931 | Lobstein's Disease | 6 | ORPHANET;UNIPROT |
Tgene | COL1A2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | COL1A2 | C0016059 | Fibrosis | 1 | CTD_human |
Tgene | COL1A2 | C0018824 | Heart valve disease | 1 | CTD_human |
Tgene | COL1A2 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | COL1A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | COL1A2 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
Tgene | COL1A2 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | COL1A2 | C0036421 | Systemic Scleroderma | 1 | CTD_human |
Tgene | COL1A2 | C1857034 | Ehlers-Danlos syndrome, cardiac valvular form | 1 | CTD_human;ORPHANET |