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Fusion gene ID: 18209 |
FusionGeneSummary for KATNBL1_TNPO3 |
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Fusion gene information | Fusion gene name: KATNBL1_TNPO3 | Fusion gene ID: 18209 | Hgene | Tgene | Gene symbol | KATNBL1 | TNPO3 | Gene ID | 79768 | 23534 |
Gene name | katanin regulatory subunit B1 like 1 | transportin 3 | |
Synonyms | C15orf29 | IPO12|LGMD1F|MTR10A|TRN-SR|TRN-SR2|TRNSR | |
Cytomap | 15q14 | 7q32.1 | |
Type of gene | protein-coding | protein-coding | |
Description | KATNB1-like protein 1katanin p80 subunit B-like 1 | transportin-3imp12importin 12limb girdle muscular dystrophy 1F (autosomal dominant)transportin-SR | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9H079 | Q9Y5L0 | |
Ensembl transtripts involved in fusion gene | ENST00000256544, ENST00000560915, | ENST00000393245, ENST00000265388, ENST00000482320, ENST00000471234, ENST00000471166, | |
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 TNPO3 [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 |
TCGA | LD | GBM | TCGA-26-5135-01A | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
* 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 |
5UTR-3CDS | ENST00000256544 | ENST00000393245 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
5UTR-3CDS | ENST00000256544 | ENST00000265388 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
5UTR-3CDS | ENST00000256544 | ENST00000482320 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
5UTR-3CDS | ENST00000256544 | ENST00000471234 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
5UTR-3CDS | ENST00000256544 | ENST00000471166 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
intron-3CDS | ENST00000560915 | ENST00000393245 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
intron-3CDS | ENST00000560915 | ENST00000265388 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
intron-3CDS | ENST00000560915 | ENST00000482320 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
intron-3CDS | ENST00000560915 | ENST00000471234 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
intron-3CDS | ENST00000560915 | ENST00000471166 | KATNBL1 | chr15 | 34502152 | - | TNPO3 | chr7 | 128624313 | - |
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FusionProtFeatures for KATNBL1_TNPO3 |
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Hgene | Tgene |
KATNBL1 | TNPO3 |
Regulates microtubule-severing activity of KATNAL1 in aconcentration-dependent manner in vitro.{ECO:0000269|PubMed:26929214}. | Seems to function in nuclear protein import as nucleartransport receptor. In vitro, mediates the nuclear import ofsplicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizingphosphorylated RS domains. {ECO:0000269|PubMed:10366588,ECO:0000269|PubMed:10713112, ECO:0000269|PubMed:11517331,ECO:0000269|PubMed:12628928}. |
![]() * 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_TNPO3 |
![]() (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_TNPO3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
KATNBL1 | KAT7, HAP1, PDPK1, ELAVL1, MFAP1, KATNBL1, KATNAL1, KATNA1, KATNB1, EGFR | TNPO3 | C20orf24, PHLDA3, BRF2, USP19, ELAVL1, CHMP3, TNPO1, UBE3A, CA9, VCP, SMURF2, CFTR, SOX2, EGFR, CLK3, CLK2, ACTR3, ARPC2, FEN1, HNRNPH1, IPO9, PFDN6, PPP2CA, PPP3CA, ALDOA, ELAC2, PPP2R1A, TTLL12, NXF1, COMTD1, STX5, RSRP1, CD274, TMEM171, VSIG2, P2RY12, LUC7L, LYPD3, RP2, MICA, P2RX4, PTGER3, SCN2B, SCARA3, UNK, COL4A2, NTRK1, JAK3, RAD18, AK7, DUSP4, CD70, VIPR2, SIGLECL1, VASN, TMEM206, FZD10, HTR2C, ST6GAL1, ATP2B2, VSIG1, TNFRSF1A, P2RX5, BCAM, OPRM1, FCGRT, PTPRA, PTPRE, PTPRN, STOM, 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 KATNBL1_TNPO3 |
![]() (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_TNPO3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | TNPO3 | C1842062 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F | 1 | ORPHANET;UNIPROT |