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Fusion gene ID: 18208 |
FusionGeneSummary for KATNBL1_TBCK |
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Fusion gene information | Fusion gene name: KATNBL1_TBCK | Fusion gene ID: 18208 | Hgene | Tgene | Gene symbol | KATNBL1 | TBCK | Gene ID | 79768 | 93627 |
Gene name | katanin regulatory subunit B1 like 1 | TBC1 domain containing kinase | |
Synonyms | C15orf29 | HSPC302|IHPRF3|TBCKL | |
Cytomap | 15q14 | 4q24 | |
Type of gene | protein-coding | protein-coding | |
Description | KATNB1-like protein 1katanin p80 subunit B-like 1 | TBC domain-containing protein kinase-like protein | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9H079 | Q8TEA7 | |
Ensembl transtripts involved in fusion gene | ENST00000256544, ENST00000560915, | ENST00000273980, ENST00000432496, ENST00000361687, ENST00000394706, ENST00000394708, ENST00000514689, | |
Fusion gene scores | * DoF score | 6 X 5 X 3=90 | 2 X 2 X 2=8 |
# samples | 6 | 2 | |
** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: KATNBL1 [Title/Abstract] AND TBCK [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 | KATNBL1 | GO:0051495 | positive regulation of cytoskeleton organization | 26929214 |
![]() (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 | R01956 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
* 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-intron | ENST00000256544 | ENST00000273980 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000256544 | ENST00000432496 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000256544 | ENST00000361687 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000256544 | ENST00000394706 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000256544 | ENST00000394708 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000256544 | ENST00000514689 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000560915 | ENST00000273980 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000560915 | ENST00000432496 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000560915 | ENST00000361687 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000560915 | ENST00000394706 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000560915 | ENST00000394708 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
intron-intron | ENST00000560915 | ENST00000514689 | KATNBL1 | chr15 | 34435197 | - | TBCK | chr4 | 107014418 | - |
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FusionProtFeatures for KATNBL1_TBCK |
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Hgene | Tgene |
KATNBL1 | TBCK |
Regulates microtubule-severing activity of KATNAL1 in aconcentration-dependent manner in vitro.{ECO:0000269|PubMed:26929214}. |
![]() * 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 KATNBL1_TBCK |
![]() (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 KATNBL1_TBCK |
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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 KATNBL1_TBCK |
![]() (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 KATNBL1_TBCK |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | TBCK | C4225161 | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 | 2 | UNIPROT |