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Fusion gene ID: 18973 |
FusionGeneSummary for KLF12_COMMD6 |
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Fusion gene information | Fusion gene name: KLF12_COMMD6 | Fusion gene ID: 18973 | Hgene | Tgene | Gene symbol | KLF12 | COMMD6 | Gene ID | 11278 | 170622 |
Gene name | Kruppel like factor 12 | COMM domain containing 6 | |
Synonyms | AP-2rep|AP2REP|HSPC122 | Acrg | |
Cytomap | 13q22.1 | 13q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | Krueppel-like factor 12AP-2 repressorAP-2rep transcription factorKLF12 zinc finger transcriptional repressortranscriptional repressor AP-2rep | COMM domain-containing protein 6Acrg embryonic lethality minimal region ortholog | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9Y4X4 | Q7Z4G1 | |
Ensembl transtripts involved in fusion gene | ENST00000377669, ENST00000377666, ENST00000472022, | ENST00000406936, ENST00000377615, ENST00000377619, ENST00000355801, ENST00000460675, | |
Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 3 X 4 X 3=36 |
# samples | 7 | 4 | |
** MAII score | log2(7/60*10)=0.222392421336448 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: KLF12 [Title/Abstract] AND COMMD6 [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 |
Hgene | KLF12 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16615998 |
Tgene | COMMD6 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 16573520 |
![]() (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 | LUSC | TCGA-77-A5G3-01A | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
* 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 | ENST00000377669 | ENST00000406936 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
Frame-shift | ENST00000377669 | ENST00000377615 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5CDS-intron | ENST00000377669 | ENST00000377619 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5CDS-intron | ENST00000377669 | ENST00000355801 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5CDS-intron | ENST00000377669 | ENST00000460675 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
Frame-shift | ENST00000377666 | ENST00000406936 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
Frame-shift | ENST00000377666 | ENST00000377615 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5CDS-intron | ENST00000377666 | ENST00000377619 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5CDS-intron | ENST00000377666 | ENST00000355801 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5CDS-intron | ENST00000377666 | ENST00000460675 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5UTR-3CDS | ENST00000472022 | ENST00000406936 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5UTR-3CDS | ENST00000472022 | ENST00000377615 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5UTR-intron | ENST00000472022 | ENST00000377619 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5UTR-intron | ENST00000472022 | ENST00000355801 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
5UTR-intron | ENST00000472022 | ENST00000460675 | KLF12 | chr13 | 74419964 | - | COMMD6 | chr13 | 76111811 | - |
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FusionProtFeatures for KLF12_COMMD6 |
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Hgene | Tgene |
KLF12 | COMMD6 |
Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alphagene promoter. | May modulate activity of cullin-RING E3 ubiquitin ligase(CRL) complexes (PubMed:21778237). Down-regulates activation ofNF-kappa-B. Inhibits TNF-induced NFKB1 activation.{ECO:0000269|PubMed:15799966, ECO:0000269|PubMed:16573520,ECO:0000305|PubMed:21778237}. |
![]() * 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 KLF12_COMMD6 |
![]() (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 KLF12_COMMD6 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
KLF12 | EHMT2, APP, CTBP1, THAP1, DYNLT1, DNMT3L, IDO2, TRIM25 | COMMD6 | COMMD1, RELA, NFKB1, COMMD6, COMMD4, VCP, CCDC22, COMMD10, ZFP36, CCDC93, E2F6, COMMD3, UNK, COMMD9, SCLT1, COMMD7, FAM45A, COMMD2, COMMD8, C16orf62, COMMD5, DSCR3, VPS29, TFDP1, VPS33B, MFAP3, KIF2B, EMB, TM2D3 |
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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 KLF12_COMMD6 |
![]() (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 KLF12_COMMD6 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KLF12 | C0036341 | Schizophrenia | 1 | CTD_human |
Hgene | KLF12 | C0236969 | Substance-Related Disorders | 1 | CTD_human |