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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:KANSL1-NDUFAF2 (FusionGDB2 ID:40947) |
Fusion Gene Summary for KANSL1-NDUFAF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KANSL1-NDUFAF2 | Fusion gene ID: 40947 | Hgene | Tgene | Gene symbol | KANSL1 | NDUFAF2 | Gene ID | 284058 | 91942 |
| Gene name | KAT8 regulatory NSL complex subunit 1 | NADH:ubiquinone oxidoreductase complex assembly factor 2 | |
| Synonyms | CENP-36|KDVS|KIAA1267|MSL1v1|NSL1|hMSL1v1 | B17.2L|MC1DN10|MMTN|NDUFA12L|mimitin | |
| Cytomap | 17q21.31 | 5q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | KAT8 regulatory NSL complex subunit 1MLL1/MLL complex subunit KANSL1MSL1 homolog 1NSL complex protein NSL1centromere protein 36male-specific lethal 1 homolognon-specific lethal 1 homolog | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2Myc-induced mitochondrial proteinNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2NADH dehydrogenase (ubiquinone) complex I, assembly factor 2NADH dehydrogenase 1 | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | Q7Z3B3 | Q8N183 | |
| Ensembl transtripts involved in fusion gene | ENST00000574590, ENST00000575318, ENST00000572904, ENST00000262419, ENST00000432791, ENST00000393476, ENST00000576248, | ENST00000296597, ENST00000511107, ENST00000512623, | |
| Fusion gene scores | * DoF score | 34 X 33 X 14=15708 | 13 X 7 X 9=819 |
| # samples | 47 | 15 | |
| ** MAII score | log2(47/15708*10)=-5.0626949361014 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/819*10)=-2.44890095114513 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KANSL1 [Title/Abstract] AND NDUFAF2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | KANSL1(44230270)-NDUFAF2(60368952), # 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 |
| Hgene | KANSL1 | GO:0043981 | histone H4-K5 acetylation | 20018852 |
| Hgene | KANSL1 | GO:0043982 | histone H4-K8 acetylation | 20018852 |
| Hgene | KANSL1 | GO:0043984 | histone H4-K16 acetylation | 20018852 |
| Fusion gene breakpoints across KANSL1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across NDUFAF2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 |
| ChimerDB4 | CESC | TCGA-MY-A5BF | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
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Fusion Gene ORF analysis for KANSL1-NDUFAF2 |
| 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 | ENST00000574590 | ENST00000296597 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-intron | ENST00000574590 | ENST00000511107 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3UTR | ENST00000574590 | ENST00000512623 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3CDS | ENST00000575318 | ENST00000296597 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-intron | ENST00000575318 | ENST00000511107 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3UTR | ENST00000575318 | ENST00000512623 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3CDS | ENST00000572904 | ENST00000296597 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-intron | ENST00000572904 | ENST00000511107 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3UTR | ENST00000572904 | ENST00000512623 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3CDS | ENST00000262419 | ENST00000296597 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-intron | ENST00000262419 | ENST00000511107 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3UTR | ENST00000262419 | ENST00000512623 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3CDS | ENST00000432791 | ENST00000296597 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-intron | ENST00000432791 | ENST00000511107 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3UTR | ENST00000432791 | ENST00000512623 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3CDS | ENST00000393476 | ENST00000296597 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-intron | ENST00000393476 | ENST00000511107 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| intron-3UTR | ENST00000393476 | ENST00000512623 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| In-frame | ENST00000576248 | ENST00000296597 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-intron | ENST00000576248 | ENST00000511107 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-3UTR | ENST00000576248 | ENST00000512623 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + |
| 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) |
| ENST00000576248 | KANSL1 | chr17 | 44230270 | - | ENST00000296597 | NDUFAF2 | chr5 | 60368952 | + | 782 | 328 | 5 | 304 | 99 |
| 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 |
| ENST00000576248 | ENST00000296597 | KANSL1 | chr17 | 44230270 | - | NDUFAF2 | chr5 | 60368952 | + | 0.038446143 | 0.9615538 |
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Fusion Genomic Features for KANSL1-NDUFAF2 |
| 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) |
| KANSL1 | chr17 | 44230269 | - | NDUFAF2 | chr5 | 60368951 | + | 4.91E-05 | 0.9999509 |
| KANSL1 | chr17 | 44230269 | - | NDUFAF2 | chr5 | 60368951 | + | 4.91E-05 | 0.9999509 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for KANSL1-NDUFAF2 |
| Go to FGviewer for the breakpoints of chr17:44230270-chr5:60368952 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KANSL1 | NDUFAF2 |
| FUNCTION: As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. {ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:22547026}. | FUNCTION: Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371). {ECO:0000269|PubMed:16200211, ECO:0000269|PubMed:19384974, ECO:0000269|PubMed:27626371}. |
| 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 |
| Hgene | KANSL1 | chr17:44230270 | chr5:60368952 | ENST00000262419 | - | 1 | 15 | 283_314 | 0 | 1106.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | KANSL1 | chr17:44230270 | chr5:60368952 | ENST00000432791 | - | 1 | 14 | 283_314 | 0 | 1106.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | KANSL1 | chr17:44230270 | chr5:60368952 | ENST00000572904 | - | 1 | 15 | 283_314 | 0 | 1106.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | KANSL1 | chr17:44230270 | chr5:60368952 | ENST00000574590 | - | 1 | 15 | 283_314 | 0 | 1106.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | KANSL1 | chr17:44230270 | chr5:60368952 | ENST00000262419 | - | 1 | 15 | 850_882 | 0 | 1106.0 | Region | Note=Required for activation of KAT8 histone acetyltransferase activity |
| Hgene | KANSL1 | chr17:44230270 | chr5:60368952 | ENST00000432791 | - | 1 | 14 | 850_882 | 0 | 1106.0 | Region | Note=Required for activation of KAT8 histone acetyltransferase activity |
| Hgene | KANSL1 | chr17:44230270 | chr5:60368952 | ENST00000572904 | - | 1 | 15 | 850_882 | 0 | 1106.0 | Region | Note=Required for activation of KAT8 histone acetyltransferase activity |
| Hgene | KANSL1 | chr17:44230270 | chr5:60368952 | ENST00000574590 | - | 1 | 15 | 850_882 | 0 | 1106.0 | Region | Note=Required for activation of KAT8 histone acetyltransferase activity |
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Fusion Gene Sequence for KANSL1-NDUFAF2 |
| 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. |
| >In-frame_ENST00000576248_ENST00000296597_TCGA-MY-A5BF_KANSL1_chr17_44230270_-_NDUFAF2_chr5_60368952_length(transcript)=782nt_BP=328nt GCCAGTTGATGCTGACTCGAAAGGCTGAAGCTGCCTTGAGAAAAGCTGCCAGTGAGACCACCACTTCAGAGGGACTTAGCAACTTTCTGA AAAGCAATTCAATTTCAGAAGAATTGGAGAGATTTACAGCTAGTGGCATAGCCAACTTGAGGTGCAGTGAACAGGCATTTGATTCAGATG TCACTGACAGTAGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCTGTATC TCCATACAGCCAAGAATAAAGAAAGAAAGGGATAGATGGAATGAGTTTCATCGTGATTGACAAACTATTCGAGAGAAAAGAATTGTAGAA GCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGATATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACCT ACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAAGAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAGT AAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAAACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACCC TCAGTGGCTCCCAGCAGCACTGGTAAAACCTTTCAGCCAGGATCCTGGATGCCACGAGATGGCAAGAGCCACAATCAATGAATGCATTAT >In-frame_ENST00000576248_ENST00000296597_TCGA-MY-A5BF_KANSL1_chr17_44230270_-_NDUFAF2_chr5_60368952_length(amino acids)=99AA_start in transcript=5_stop in transcript=304 MMLTRKAEAALRKAASETTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTRADPEQRHVPLYLH -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for KANSL1-NDUFAF2 |
| 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 KANSL1-NDUFAF2 |
| 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 KANSL1-NDUFAF2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KANSL1 | C0020796 | Profound Mental Retardation | 2 | CTD_human |
| Hgene | KANSL1 | C0025363 | Mental Retardation, Psychosocial | 2 | CTD_human |
| Hgene | KANSL1 | C0026825 | Flaccid Muscle Tone | 2 | CTD_human |
| Hgene | KANSL1 | C0026827 | Muscle hypotonia | 2 | CTD_human |
| Hgene | KANSL1 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Hgene | KANSL1 | C0427201 | Floppy Muscles | 2 | CTD_human |
| Hgene | KANSL1 | C0427202 | Muscle Tone Atonic | 2 | CTD_human |
| Hgene | KANSL1 | C0751330 | Unilateral Hypotonia | 2 | CTD_human |
| Hgene | KANSL1 | C0917816 | Mental deficiency | 2 | CTD_human |
| Hgene | KANSL1 | C1864871 | Chromosome 17q21.31 Deletion Syndrome | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | KANSL1 | C2267233 | Neonatal Hypotonia | 2 | CTD_human |
| Hgene | KANSL1 | C2931713 | Chromosome 17 deletion | 2 | CTD_human |
| Hgene | KANSL1 | C3683846 | Chromosome 17p Deletion Syndrome | 2 | CTD_human |
| Hgene | KANSL1 | C3714756 | Intellectual Disability | 2 | CTD_human |
| Hgene | KANSL1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | KANSL1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Hgene | KANSL1 | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human |
| Hgene | KANSL1 | C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 1 | CTD_human |
| Tgene | NDUFAF2 | C1838979 | MITOCHONDRIAL COMPLEX I DEFICIENCY | 4 | GENOMICS_ENGLAND;ORPHANET |
| Tgene | NDUFAF2 | C0023264 | Leigh Disease | 2 | GENOMICS_ENGLAND |
| Tgene | NDUFAF2 | C4748768 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 2 | GENOMICS_ENGLAND |
| Tgene | NDUFAF2 | C0752107 | Brain Diseases, Metabolic, Inherited | 1 | CTD_human |
| Tgene | NDUFAF2 | C0752109 | Brain Diseases, Metabolic, Inborn | 1 | CTD_human |
| Tgene | NDUFAF2 | C0752110 | Central Nervous System Inborn Metabolic Diseases | 1 | CTD_human |
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