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Fusion gene ID: 37405 |
FusionGeneSummary for TBC1D4_KLF12 |
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Fusion gene information | Fusion gene name: TBC1D4_KLF12 | Fusion gene ID: 37405 | Hgene | Tgene | Gene symbol | TBC1D4 | KLF12 | Gene ID | 9882 | 11278 |
Gene name | TBC1 domain family member 4 | Kruppel like factor 12 | |
Synonyms | AS160|NIDDM5 | AP-2rep|AP2REP|HSPC122 | |
Cytomap | 13q22.2 | 13q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | TBC1 domain family member 4TBC (Tre-2, BUB2, CDC16) domain-containing proteinakt substrate of 160 kDa | Krueppel-like factor 12AP-2 repressorAP-2rep transcription factorKLF12 zinc finger transcriptional repressortranscriptional repressor AP-2rep | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O60343 | Q9Y4X4 | |
Ensembl transtripts involved in fusion gene | ENST00000377636, ENST00000431480, ENST00000425511, ENST00000377625, ENST00000478591, | ENST00000377669, ENST00000377666, ENST00000472022, | |
Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 9 X 10 X 4=360 |
# samples | 5 | 11 | |
** MAII score | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/360*10)=-1.71049338280502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TBC1D4 [Title/Abstract] AND KLF12 [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 | KLF12 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16615998 |
![]() (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 | RV | LUSC | TCGA-77-A5G3-01A | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
* 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 | ENST00000377636 | ENST00000377669 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
Frame-shift | ENST00000377636 | ENST00000377666 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
5CDS-5UTR | ENST00000377636 | ENST00000472022 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
Frame-shift | ENST00000431480 | ENST00000377669 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
Frame-shift | ENST00000431480 | ENST00000377666 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
5CDS-5UTR | ENST00000431480 | ENST00000472022 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
5UTR-3CDS | ENST00000425511 | ENST00000377669 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
5UTR-3CDS | ENST00000425511 | ENST00000377666 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
5UTR-5UTR | ENST00000425511 | ENST00000472022 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
Frame-shift | ENST00000377625 | ENST00000377669 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
Frame-shift | ENST00000377625 | ENST00000377666 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
5CDS-5UTR | ENST00000377625 | ENST00000472022 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
intron-3CDS | ENST00000478591 | ENST00000377669 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
intron-3CDS | ENST00000478591 | ENST00000377666 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
intron-5UTR | ENST00000478591 | ENST00000472022 | TBC1D4 | chr13 | 76055406 | - | KLF12 | chr13 | 74387424 | - |
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FusionProtFeatures for TBC1D4_KLF12 |
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Hgene | Tgene |
TBC1D4 | KLF12 |
May act as a GTPase-activating protein for RAB2A, RAB8A,RAB10 and RAB14. Isoform 2 promotes insulin-induced glucosetransporter SLC2A4/GLUT4 translocation at the plasma membrane,thus increasing glucose uptake. {ECO:0000269|PubMed:15971998,ECO:0000269|PubMed:18771725, ECO:0000269|PubMed:22908308}. | Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alphagene promoter. |
![]() * 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 TBC1D4_KLF12 |
![]() (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 TBC1D4_KLF12 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TBC1D4 | DNPEP, U2SURP, RBM12, EP400, TET2, CUL2, ROR1, YWHAE, YWHAQ, AKT1, YWHAB, PIN1, TBC1D2, POLD1, RPL3, SMC4, TSEN2, TLE3, WDR77, AURKB, CDKN1A, CEP57, CEP72, TP53, FBXW11, BTRC, CTDSP2, APBB2, TMOD1, EIF4E3, CCNA2, NTRK1, MPHOSPH8, MBOAT1, CHAMP1, FOXK1, YWHAZ, CTDSPL, PPP2CA, PPP2CB, TMOD3, TP53INP1, MYF6, IQCF1, LRRC8E, COMMD1, RAB2B, NCF2, TKT, CALM1 | KLF12 | EHMT2, APP, CTBP1, THAP1, DYNLT1, DNMT3L, IDO2, TRIM25 |
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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 TBC1D4_KLF12 |
![]() (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 TBC1D4_KLF12 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | KLF12 | C0036341 | Schizophrenia | 1 | CTD_human |
Tgene | KLF12 | C0236969 | Substance-Related Disorders | 1 | CTD_human |