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Fusion gene ID: 18352 |
FusionGeneSummary for KCTD12_MATN2 |
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Fusion gene information | Fusion gene name: KCTD12_MATN2 | Fusion gene ID: 18352 | Hgene | Tgene | Gene symbol | KCTD12 | MATN2 | Gene ID | 115207 | 4147 |
Gene name | potassium channel tetramerization domain containing 12 | matrilin 2 | |
Synonyms | C13orf2|PFET1|PFETIN | - | |
Cytomap | 13q22.3 | 8q22.1-q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | BTB/POZ domain-containing protein KCTD12potassium channel tetramerisation domain containing 12predominantly fetal expressed T1 domaintesticular tissue protein Li 100 | matrilin-2testis tissue sperm-binding protein Li 94mP | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q96CX2 | O00339 | |
Ensembl transtripts involved in fusion gene | ENST00000377474, ENST00000317765, | ENST00000521689, ENST00000254898, ENST00000524308, ENST00000522025, ENST00000520016, ENST00000518238, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 9 X 8 X 8=576 |
# samples | 2 | 10 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(10/576*10)=-2.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: KCTD12 [Title/Abstract] AND MATN2 [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 |
ChiTaRS3.1 | BE763321 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
* 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-3CDS | ENST00000377474 | ENST00000521689 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-3CDS | ENST00000377474 | ENST00000254898 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-3CDS | ENST00000377474 | ENST00000524308 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-3CDS | ENST00000377474 | ENST00000522025 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-3CDS | ENST00000377474 | ENST00000520016 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-intron | ENST00000377474 | ENST00000518238 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-3CDS | ENST00000317765 | ENST00000521689 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-3CDS | ENST00000317765 | ENST00000254898 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-3CDS | ENST00000317765 | ENST00000524308 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-3CDS | ENST00000317765 | ENST00000522025 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-3CDS | ENST00000317765 | ENST00000520016 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
intron-intron | ENST00000317765 | ENST00000518238 | KCTD12 | chr13 | 77454936 | - | MATN2 | chr8 | 99045375 | - |
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FusionProtFeatures for KCTD12_MATN2 |
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Hgene | Tgene |
KCTD12 | MATN2 |
Auxiliary subunit of GABA-B receptors that determine thepharmacology and kinetics of the receptor response. Increasesagonist potency and markedly alter the G-protein signaling of thereceptors by accelerating onset and promoting desensitization (Bysimilarity). {ECO:0000250}. |
![]() * 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 KCTD12_MATN2 |
![]() (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 KCTD12_MATN2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 KCTD12_MATN2 |
![]() (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 KCTD12_MATN2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KCTD12 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | KCTD12 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | KCTD12 | C0525045 | Mood Disorders | 1 | PSYGENET |