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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:KCNJ10-DCTN1 (FusionGDB2 ID:HG3766TG1639) |
Fusion Gene Summary for KCNJ10-DCTN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNJ10-DCTN1 | Fusion gene ID: hg3766tg1639 | Hgene | Tgene | Gene symbol | KCNJ10 | DCTN1 | Gene ID | 3766 | 1639 |
| Gene name | potassium inwardly rectifying channel subfamily J member 10 | dynactin subunit 1 | |
| Synonyms | BIRK-10|KCNJ13-PEN|KIR1.2|KIR4.1|SESAME | DAP-150|DP-150|P135 | |
| Cytomap | ('KCNJ10')('DCTN1') 1q23.2 | 2p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-sensitive inward rectifier potassium channel 10ATP-dependent inwardly rectifying potassium channel Kir4.1glial ATP-dependent inwardly rectifying potassium channel KIR4.1inward rectifier K(+) channel Kir1.2inward rectifier K+ channel KIR1.2potassi | dynactin subunit 1150 kDa dynein-associated polypeptidedynactin 1 (p150, glued homolog, Drosophila) | |
| Modification date | 20200322 | 20200319 | |
| UniProtAcc | P78508 | Q14203 | |
| Ensembl transtripts involved in fusion gene | ENST00000368089, ENST00000509700, | ||
| Fusion gene scores | * DoF score | 2 X 3 X 2=12 | 8 X 9 X 3=216 |
| # samples | 3 | 9 | |
| ** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KCNJ10 [Title/Abstract] AND DCTN1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | KCNJ10(160011953)-DCTN1(74594914), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | DCTN1 | GO:0031116 | positive regulation of microtubule polymerization | 23874158 |
| Tgene | DCTN1 | GO:0090063 | positive regulation of microtubule nucleation | 23874158 |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | DA064572 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
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Fusion Gene ORF analysis for KCNJ10-DCTN1 |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 | ENST00000368089 | ENST00000361874 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000368089 | ENST00000394003 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000368089 | ENST00000407639 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000368089 | ENST00000409240 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000368089 | ENST00000409438 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000368089 | ENST00000409567 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000368089 | ENST00000409868 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000509700 | ENST00000361874 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000509700 | ENST00000394003 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000509700 | ENST00000407639 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000509700 | ENST00000409240 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000509700 | ENST00000409438 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000509700 | ENST00000409567 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-3CDS | ENST00000509700 | ENST00000409868 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-5UTR | ENST00000368089 | ENST00000495643 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| intron-5UTR | ENST00000509700 | ENST00000495643 | KCNJ10 | chr1 | 160011953 | - | DCTN1 | chr2 | 74594914 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for KCNJ10-DCTN1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for KCNJ10-DCTN1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:160011953/:74594914) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCNJ10 | DCTN1 |
| FUNCTION: May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules. {ECO:0000250, ECO:0000305|PubMed:24561201}. | FUNCTION: Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule (PubMed:25185702). Can regulate microtubule stability by promoting microtubule formation, nucleation and polymerization and by inhibiting microtubule catastrophe in neurons. Inhibits microtubule catastrophe by binding both to microtubules and to tubulin, leading to enhanced microtubule stability along the axon (PubMed:23874158). Plays a role in metaphase spindle orientation (PubMed:22327364). Plays a role in centriole cohesion and subdistal appendage organization and function. Its recruitment to the centriole in a KIF3A-dependent manner is essential for the maintenance of centriole cohesion and the formation of subdistal appendage. Also required for microtubule anchoring at the mother centriole (PubMed:23386061). Plays a role in primary cilia formation (PubMed:25774020). {ECO:0000269|PubMed:22327364, ECO:0000269|PubMed:23386061, ECO:0000269|PubMed:23874158, ECO:0000269|PubMed:25185702, ECO:0000269|PubMed:25774020}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * 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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Fusion Gene Sequence for KCNJ10-DCTN1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for KCNJ10-DCTN1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for KCNJ10-DCTN1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for KCNJ10-DCTN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KCNJ10 | C2748572 | SeSAME syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | KCNJ10 | C1863752 | Enlarged Vestibular Aqueduct | 3 | CLINGEN |
| Hgene | KCNJ10 | C0026769 | Multiple Sclerosis | 1 | CTD_human |
| Hgene | KCNJ10 | C0751324 | Multiple Sclerosis, Acute Fulminating | 1 | CTD_human |
| Hgene | KCNJ10 | C3538946 | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT | 1 | CTD_human;GENOMICS_ENGLAND |
| Tgene | C1868594 | Perry Syndrome | 11 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
| Tgene | C1843315 | Neuronopathy, Distal Hereditary Motor, Type Viib | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0002736 | Amyotrophic Lateral Sclerosis | 1 | ORPHANET | |
| Tgene | C0242422 | Parkinsonian Disorders | 1 | CTD_human | |
| Tgene | C0242423 | Ramsay Hunt Paralysis Syndrome | 1 | CTD_human | |
| Tgene | C0525045 | Mood Disorders | 1 | CTD_human | |
| Tgene | C0752097 | Autosomal Dominant Juvenile Parkinson Disease | 1 | CTD_human | |
| Tgene | C0752098 | Autosomal Dominant Parkinsonism | 1 | CTD_human | |
| Tgene | C0752100 | Autosomal Recessive Parkinsonism | 1 | CTD_human | |
| Tgene | C0752101 | Parkinsonism, Experimental | 1 | CTD_human | |
| Tgene | C0752104 | Familial Juvenile Parkinsonism | 1 | CTD_human | |
| Tgene | C0752105 | Parkinsonism, Juvenile | 1 | CTD_human | |
| Tgene | C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | 1 | CTD_human | |
| Tgene | C3203358 | Hypoventilation | 1 | CTD_human | |
| Tgene | C4749653 | Distal hereditary motor neuropathy type 7 | 1 | ORPHANET |
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