![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 14497 |
FusionGeneSummary for GBX1_COL4A6 |
![]() |
Fusion gene information | Fusion gene name: GBX1_COL4A6 | Fusion gene ID: 14497 | Hgene | Tgene | Gene symbol | GBX1 | COL4A6 | Gene ID | 2636 | 1288 |
Gene name | gastrulation brain homeobox 1 | collagen type IV alpha 6 chain | |
Synonyms | Huh-17 | CXDELq22.3|DELXq22.3|DFNX6 | |
Cytomap | 7q36.1 | Xq22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | homeobox protein GBX-1gastrulation and brain-specific homeobox protein 1 | collagen alpha-6(IV) chaincollagen IV, alpha-6 polypeptidecollagen of basement membrane, alpha-6collagen, type IV, alpha 6dJ889N15.4 (Collagen Alpha 6(IV)) | |
Modification date | 20180403 | 20180523 | |
UniProtAcc | Q14549 | Q14031 | |
Ensembl transtripts involved in fusion gene | ENST00000297537, ENST00000475831, | ENST00000334504, ENST00000372216, ENST00000394872, ENST00000538570, ENST00000545689, ENST00000461897, ENST00000418180, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
# samples | 2 | 1 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: GBX1 [Title/Abstract] AND COL4A6 [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | CR747029 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
* 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 | ENST00000297537 | ENST00000334504 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000297537 | ENST00000372216 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000297537 | ENST00000394872 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000297537 | ENST00000538570 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000297537 | ENST00000545689 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000297537 | ENST00000461897 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000297537 | ENST00000418180 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000475831 | ENST00000334504 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000475831 | ENST00000372216 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000475831 | ENST00000394872 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000475831 | ENST00000538570 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000475831 | ENST00000545689 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000475831 | ENST00000461897 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
intron-intron | ENST00000475831 | ENST00000418180 | GBX1 | chr7 | 150845989 | - | COL4A6 | chrX | 107666051 | - |
Top |
FusionProtFeatures for GBX1_COL4A6 |
![]() |
Hgene | Tgene |
GBX1 | COL4A6 |
![]() * 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 |
Top |
FusionGeneSequence for GBX1_COL4A6 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for GBX1_COL4A6 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for GBX1_COL4A6 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for GBX1_COL4A6 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | COL4A6 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | COL4A6 | C0086533 | Leiomyoma, Epithelioid | 1 | CTD_human |
Tgene | COL4A6 | C3806737 | DEAFNESS, X-LINKED 6 | 1 | UNIPROT |