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Fusion gene ID: 37427 |
FusionGeneSummary for TBC1D9_MAML3 |
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Fusion gene information | Fusion gene name: TBC1D9_MAML3 | Fusion gene ID: 37427 | Hgene | Tgene | Gene symbol | TBC1D9 | MAML3 | Gene ID | 23158 | 55534 |
Gene name | TBC1 domain family member 9 | mastermind like transcriptional coactivator 3 | |
Synonyms | GRAMD9|MDR1 | CAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3|mam-3 | |
Cytomap | 4q31.21 | 4q31.1 | |
Type of gene | protein-coding | protein-coding | |
Description | TBC1 domain family member 9TBC1 domain family member 9ATBC1 domain family, member 9 (with GRAM domain) | mastermind-like protein 3CAG repeat containing (glia-derived nexin I alpha)expanded repeat domain, CAG/CTG 3polyglutamine richtrinucleotide repeat containing 3 | |
Modification date | 20180523 | 20180524 | |
UniProtAcc | Q6ZT07 | Q96JK9 | |
Ensembl transtripts involved in fusion gene | ENST00000442267, | ENST00000509479, ENST00000327122, ENST00000398940, | |
Fusion gene scores | * DoF score | 5 X 6 X 3=90 | 7 X 4 X 4=112 |
# samples | 5 | 14 | |
** MAII score | log2(5/90*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/112*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TBC1D9 [Title/Abstract] AND MAML3 [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 | MAML3 | GO:0007219 | Notch signaling pathway | 12370315 |
Tgene | MAML3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12370315 |
![]() (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-BH-A1FN-01A | TBC1D9 | chr4 | 141622658 | - | MAML3 | chr4 | 140812121 | - |
* 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 |
Frame-shift | ENST00000442267 | ENST00000509479 | TBC1D9 | chr4 | 141622658 | - | MAML3 | chr4 | 140812121 | - |
Frame-shift | ENST00000442267 | ENST00000327122 | TBC1D9 | chr4 | 141622658 | - | MAML3 | chr4 | 140812121 | - |
5CDS-intron | ENST00000442267 | ENST00000398940 | TBC1D9 | chr4 | 141622658 | - | MAML3 | chr4 | 140812121 | - |
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FusionProtFeatures for TBC1D9_MAML3 |
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Hgene | Tgene |
TBC1D9 | MAML3 |
May act as a GTPase-activating protein for Rab familyprotein(s). | Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}. |
![]() * 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 TBC1D9_MAML3 |
![]() (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 TBC1D9_MAML3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TBC1D9 | MAP1LC3B, GABARAPL2, MAP1LC3A, GABARAPL1, LANCL1, PRICKLE3, SRSF2, SNRPE, SSB, YME1L1, DDX41, PRPF38B, ABHD16A, TBC1D9B, TMEM55A, MRS2, CPT1A, EPHA1, MUL1 | MAML3 | MAML1, NOTCH1, NFX1, SUPT5H, RAI1, ZBTB1, SCMH1, ZZZ3, RBPJ |
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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 TBC1D9_MAML3 |
![]() (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 TBC1D9_MAML3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TBC1D9 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | MAML3 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Tgene | MAML3 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
Tgene | MAML3 | C1261473 | Sarcoma | 1 | CTD_human |
Tgene | MAML3 | C1710096 | Sinonasal undifferentiated carcinoma | 1 | CTD_human |