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Fusion gene ID: 37323 |
FusionGeneSummary for TBC1D15_ANTXR2 |
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Fusion gene information | Fusion gene name: TBC1D15_ANTXR2 | Fusion gene ID: 37323 | Hgene | Tgene | Gene symbol | TBC1D15 | ANTXR2 | Gene ID | 64786 | 118429 |
Gene name | TBC1 domain family member 15 | ANTXR cell adhesion molecule 2 | |
Synonyms | RAB7-GAP | CMG-2|CMG2|HFS|ISH|JHF | |
Cytomap | 12q21.1 | 4q21.21 | |
Type of gene | protein-coding | protein-coding | |
Description | TBC1 domain family member 15GAP for RAB7GTPase-activating protein RAB7Tre-2-budding uninhibited by benzimidazole-cell division cycle 16 domain, domain family member 15Tre2/Bub2/Cdc16 domain family member 15 | anthrax toxin receptor 2capillary morphogenesis gene 2 proteincapillary morphogenesis protein 2 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q8TC07 | P58335 | |
Ensembl transtripts involved in fusion gene | ENST00000550746, ENST00000319106, ENST00000485960, ENST00000393309, ENST00000548679, | ENST00000403729, ENST00000482406, ENST00000404191, ENST00000346652, ENST00000307333, ENST00000295465, | |
Fusion gene scores | * DoF score | 15 X 10 X 9=1350 | 6 X 7 X 3=126 |
# samples | 17 | 7 | |
** MAII score | log2(17/1350*10)=-2.98935275580049 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TBC1D15 [Title/Abstract] AND ANTXR2 [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 |
![]() (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 |
TCGA | LD | BRCA | TCGA-3C-AAAU-01A | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
* 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 |
5CDS-intron | ENST00000550746 | ENST00000403729 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000550746 | ENST00000482406 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000550746 | ENST00000404191 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000550746 | ENST00000346652 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000550746 | ENST00000307333 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000550746 | ENST00000295465 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000319106 | ENST00000403729 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000319106 | ENST00000482406 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000319106 | ENST00000404191 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000319106 | ENST00000346652 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000319106 | ENST00000307333 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000319106 | ENST00000295465 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000485960 | ENST00000403729 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000485960 | ENST00000482406 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000485960 | ENST00000404191 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000485960 | ENST00000346652 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000485960 | ENST00000307333 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5CDS-intron | ENST00000485960 | ENST00000295465 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5UTR-intron | ENST00000393309 | ENST00000403729 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5UTR-intron | ENST00000393309 | ENST00000482406 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5UTR-intron | ENST00000393309 | ENST00000404191 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5UTR-intron | ENST00000393309 | ENST00000346652 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5UTR-intron | ENST00000393309 | ENST00000307333 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
5UTR-intron | ENST00000393309 | ENST00000295465 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
intron-intron | ENST00000548679 | ENST00000403729 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
intron-intron | ENST00000548679 | ENST00000482406 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
intron-intron | ENST00000548679 | ENST00000404191 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
intron-intron | ENST00000548679 | ENST00000346652 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
intron-intron | ENST00000548679 | ENST00000307333 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
intron-intron | ENST00000548679 | ENST00000295465 | TBC1D15 | chr12 | 72266783 | + | ANTXR2 | chr4 | 81042431 | - |
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FusionProtFeatures for TBC1D15_ANTXR2 |
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Hgene | Tgene |
TBC1D15 | ANTXR2 |
Acts as a GTPase activating protein for RAB7A. Does notact on RAB4, RAB5 or RAB6 (By similarity). {ECO:0000250}. | Necessary for cellular interactions with laminin and theextracellular matrix. {ECO:0000269|PubMed:11683410,ECO:0000269|PubMed:12973667}. |
![]() * 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 TBC1D15_ANTXR2 |
![]() (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 TBC1D15_ANTXR2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TBC1D15 | MEPCE, GABARAP, TERF2, UBC, CUL2, NEDD8, RAB5A, RAB5B, RAB5C, FIS1, PARK2, ARFIP1, ATP6V1C1, DNM1L, IDE, PSMG3, SHMT2, SNX2, STAT3, VPS26A, OPTN, CALCOCO1, CEP63, CCDC8, UBAC2, SPINT2, STX12, CCDC121, CCNH, ST3GAL4, PNKD, DLK1, FLOT2, FAM189A2, PTGER3, ALDH3A2, NTRK1, XPO1, UBXN8, GRAMD4, KIF22, TBC1D17, CAMLG, ATF6B, MRS2, DNM1, UTP15, SLC30A9, HTR2C, VTI1B, TMEM206, DNM2, TNFRSF1A, UXS1, PTPN1, PTPRN | ANTXR2 | SMAD2, COL4A5, LAMB1, LAMC1, LGR4, TCEB3, HS1BP3, IKBIP, ANKRD13D |
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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 TBC1D15_ANTXR2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TBC1D15_ANTXR2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | ANTXR2 | C0009917 | Contracture | 2 | CTD_human |
Tgene | ANTXR2 | C0016045 | fibroma | 2 | CTD_human |
Tgene | ANTXR2 | C0017567 | Gingival Hypertrophy | 2 | CTD_human |
Tgene | ANTXR2 | C0038013 | Ankylosing spondylitis | 2 | CTD_human |
Tgene | ANTXR2 | C2745948 | Hyalinosis, Systemic | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | ANTXR2 | C0029456 | Osteoporosis | 1 | CTD_human |
Tgene | ANTXR2 | C0221204 | Lytic lesion | 1 | CTD_human |