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Fusion gene ID: 18526 |
FusionGeneSummary for KHDC1_NLK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KHDC1_NLK | Fusion gene ID: 18526 | Hgene | Tgene | Gene symbol | KHDC1 | NLK | Gene ID | 80759 | 51701 |
| Gene name | KH domain containing 1 | nemo like kinase | |
| Synonyms | C6orf147|C6orf148|Em:AC019205.8|NDG1|bA257K9.4 | - | |
| Cytomap | 6q13 | 17q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | KH homology domain-containing protein 1KH homology domain containing 1 | serine/threonine-protein kinase NLK | |
| Modification date | 20180329 | 20180523 | |
| UniProtAcc | Q4VXA5 | Q9UBE8 | |
| Ensembl transtripts involved in fusion gene | ENST00000257765, ENST00000370384, ENST00000484801, | ENST00000407008, ENST00000583517, ENST00000582037, | |
| Fusion gene scores | * DoF score | 3 X 2 X 2=12 | 8 X 7 X 4=224 |
| # samples | 3 | 11 | |
| ** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/224*10)=-1.02599520853294 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KHDC1 [Title/Abstract] AND NLK [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) |
| 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 | NLK | GO:0050821 | protein stabilization | 25512613 |
| Fusion gene information from three resources (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 | BRCA | TCGA-A1-A0SO-01A | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 | ENST00000257765 | ENST00000407008 | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
| intron-intron | ENST00000257765 | ENST00000583517 | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
| intron-intron | ENST00000257765 | ENST00000582037 | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
| In-frame | ENST00000370384 | ENST00000407008 | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
| 5CDS-intron | ENST00000370384 | ENST00000583517 | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
| 5CDS-intron | ENST00000370384 | ENST00000582037 | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
| 5UTR-3CDS | ENST00000484801 | ENST00000407008 | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
| 5UTR-intron | ENST00000484801 | ENST00000583517 | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
| 5UTR-intron | ENST00000484801 | ENST00000582037 | KHDC1 | chr6 | 74001721 | - | NLK | chr17 | 26449629 | + |
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FusionProtFeatures for KHDC1_NLK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KHDC1 | NLK |
| Serine/threonine-protein kinase that regulates a numberof transcription factors with key roles in cell fatedetermination. Positive effector of the non-canonical Wntsignaling pathway, acting downstream of WNT5A, MAP3K7/TAK1 andHIPK2. Activation of this pathway causes binding to andphosphorylation of the histone methyltransferase SETDB1. The NLK-SETDB1 complex subsequently interacts with PPARG, leading tomethylation of PPARG target promoters at histone H3K9 andtranscriptional silencing. The resulting loss of PPARG target genetranscription inhibits adipogenesis and promotesosteoblastogenesis in mesenchymal stem cells (MSCs). Negativeregulator of the canonical Wnt/beta-catenin signaling pathway.Binds to and phosphorylates TCF7L2/TCF4 and LEF1, promoting thedissociation of the TCF7L2/LEF1/beta-catenin complex from DNA, aswell as the ubiquitination and subsequent proteolysis of LEF1.Together these effects inhibit the transcriptional activation ofcanonical Wnt/beta-catenin target genes. Negative regulator of theNotch signaling pathway. Binds to and phosphorylates NOTCH1,thereby preventing the formation of a transcriptionally activeternary complex of NOTCH1, RBPJ/RBPSUH and MAML1. Negativeregulator of the MYB family of transcription factors.Phosphorylation of MYB leads to its subsequent proteolysis whilephosphorylation of MYBL1 and MYBL2 inhibits their interaction withthe coactivator CREBBP. Other transcription factors may also beinhibited by direct phosphorylation of CREBBP itself. Actsdownstream of IL6 and MAP3K7/TAK1 to phosphorylate STAT3, which isin turn required for activation of NLK by MAP3K7/TAK1. Upon IL1Bstimulus, cooperates with ATF5 to activate the transactivationactivity of C/EBP subfamily members. Phosphorylates ATF5 but alsostabilizes ATF5 protein levels in a kinase-independent manner(PubMed:25512613). {ECO:0000250|UniProtKB:O54949,ECO:0000269|PubMed:12482967, ECO:0000269|PubMed:14960582,ECO:0000269|PubMed:15004007, ECO:0000269|PubMed:15764709,ECO:0000269|PubMed:17952062, ECO:0000269|PubMed:20061393,ECO:0000269|PubMed:20118921, ECO:0000269|PubMed:20874444,ECO:0000269|PubMed:21454679, ECO:0000269|PubMed:25512613}. |
| 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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FusionGeneSequence for KHDC1_NLK |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_KHDC1_ENST00000370384_chr6_74001721_-_NLK_ENST00000407008_chr17_26449629_+_444aa MLSAFQRLFRVLFVIETVSEYGVLIFIYGWPFLQTLAMLLIGTVSFHLWIRRNRERNSRSGKTRCRSKRSVTDPRDGKRVALKKMPNVFQ NLVSCKRVFRELKMLCFFKHDNVLSALDILQPPHIDYFEEIYVVTELMQSDLHKIIVSPQPLSSDHVKVFLYQILRGLKYLHSAGILHRD IKPGNLLVNSNCVLKICDFGLARVEELDESRHMTQEVVTQYYRAPEILMGSRHYSNAIDIWSVGCIFAELLGRRILFQAQSPIQQLDLIT DLLGTPSLEAMRTACEGAKAHILRGPHKQPSLPVLYTLSSQATHEAVHLLCRMLVFDPSKRISAKDALAHPYLDEGRLRYHTCMCKCCFS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_KHDC1_ENST00000370384_chr6_74001721_-_NLK_ENST00000407008_chr17_26449629_+_1332nt ATGCTGTCGGCCTTCCAGAGGCTGTTCCGAGTCTTATTTGTGATTGAAACAGTCTCAGAATACGGAGTCCTGATCTTCATTTATGGATGG CCCTTTCTCCAGACCCTTGCGATGCTCCTGATCGGGACAGTGTCTTTCCACCTTTGGATCCGCAGAAATCGAGAGAGAAACTCAAGGAGC GGAAAGACTAGATGCCGATCCAAAAGGTCAGTAACAGATCCAAGAGATGGAAAGAGAGTAGCGCTCAAAAAGATGCCCAACGTCTTCCAG AATCTGGTCTCTTGCAAAAGGGTCTTCCGGGAATTGAAGATGTTGTGTTTTTTTAAGCATGATAATGTACTCTCTGCCCTTGACATACTC CAACCTCCACACATTGACTATTTTGAAGAAATATATGTTGTCACAGAATTGATGCAGAGTGACCTACATAAAATTATCGTCTCTCCTCAA CCACTCAGCTCAGATCATGTCAAAGTTTTTCTTTATCAGATTTTGCGAGGTTTGAAATATCTCCATTCAGCTGGCATTTTACATCGAGAC ATTAAGCCAGGGAATCTCCTTGTGAACAGCAACTGTGTTCTAAAGATTTGTGATTTTGGATTGGCCAGAGTGGAAGAATTAGATGAATCC CGTCATATGACTCAGGAAGTTGTTACTCAGTATTATCGGGCTCCAGAAATCCTGATGGGCAGCCGTCATTACAGCAATGCTATTGACATC TGGTCTGTGGGATGTATCTTTGCAGAACTACTAGGACGAAGAATATTGTTTCAGGCACAGAGTCCCATTCAGCAGTTGGATTTGATCACG GATCTGTTGGGCACACCATCACTGGAAGCAATGAGGACAGCTTGTGAAGGCGCTAAGGCACATATACTCAGGGGTCCTCATAAACAGCCA TCTCTTCCTGTACTCTATACCCTGTCTAGCCAGGCTACACATGAAGCTGTTCATCTCCTTTGCAGGATGTTGGTCTTTGATCCATCCAAA AGAATATCCGCTAAGGATGCCTTAGCCCACCCCTACCTAGATGAAGGGCGACTACGATATCACACATGTATGTGTAAATGTTGCTTTTCC ACCTCCACTGGAAGAGTTTATACCAGTGACTTTGAGCCTGTCACCAATCCCAAATTTGATGACACTTTCGAGAAGAACCTCAGTTCTGTC CGACAGGTTAAAGAAATTATTCATCAGTTCATTTTGGAACAGCAGAAAGGAAACAGAGTGCCTCTCTGCATCAACCCTCAGTCTGCTGCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_KHDC1_ENST00000370384_chr6_74001721_-_NLK_ENST00000407008_chr17_26449629_+_3578nt GGCGGAAGAGGCGGGTCCAGGGCGGTGTAATTAAGGCGCGGAGCCCAGACCCTCCTGCTACAGTGCCTCGGGCTTTCCTGGAGGCGGGCG GCGGGATGCTGCTCCGTTCTCCGGGTCCTCTCCTCCGGTTCTTGTCGTTTGGTCACGCCCTCAGTTCAGTCGGTTATTGGAAAACGATCA AGGCCCAAAGATGGTTTACGTGGCGTTGTGGATGTTATCACCGTTGTTTGGTGACCGAGCCTGGAGCTTGAGCCCTGGGACGTCTTGCCA GCCGCATGTGGTCCCGTGCCCACTTCTCGCGGTGGCGCGTTAATCCACCTAGACTGTGCATTGGTCCAGTCTGGGTTGACCCCGACCCGA AGTGGCCCTTTCCTTCGCGTCCTGAACTTCGCTTCTCCGTCGGTGTCTGGTCTCTTCCCGCCGGCGGGCTCTGCGGTGGCGGGAGGAGCT GTACTACTCGTGCCTTAGCGCACCCTTACTTTCCCAGGCCAGAAACGCGAAATGCTGTCGGCCTTCCAGAGGCTGTTCCGAGTCTTATTT GTGATTGAAACAGTCTCAGAATACGGAGTCCTGATCTTCATTTATGGATGGCCCTTTCTCCAGACCCTTGCGATGCTCCTGATCGGGACA GTGTCTTTCCACCTTTGGATCCGCAGAAATCGAGAGAGAAACTCAAGGAGCGGAAAGACTAGATGCCGATCCAAAAGGTCAGTAACAGAT CCAAGAGATGGAAAGAGAGTAGCGCTCAAAAAGATGCCCAACGTCTTCCAGAATCTGGTCTCTTGCAAAAGGGTCTTCCGGGAATTGAAG ATGTTGTGTTTTTTTAAGCATGATAATGTACTCTCTGCCCTTGACATACTCCAACCTCCACACATTGACTATTTTGAAGAAATATATGTT GTCACAGAATTGATGCAGAGTGACCTACATAAAATTATCGTCTCTCCTCAACCACTCAGCTCAGATCATGTCAAAGTTTTTCTTTATCAG ATTTTGCGAGGTTTGAAATATCTCCATTCAGCTGGCATTTTACATCGAGACATTAAGCCAGGGAATCTCCTTGTGAACAGCAACTGTGTT CTAAAGATTTGTGATTTTGGATTGGCCAGAGTGGAAGAATTAGATGAATCCCGTCATATGACTCAGGAAGTTGTTACTCAGTATTATCGG GCTCCAGAAATCCTGATGGGCAGCCGTCATTACAGCAATGCTATTGACATCTGGTCTGTGGGATGTATCTTTGCAGAACTACTAGGACGA AGAATATTGTTTCAGGCACAGAGTCCCATTCAGCAGTTGGATTTGATCACGGATCTGTTGGGCACACCATCACTGGAAGCAATGAGGACA GCTTGTGAAGGCGCTAAGGCACATATACTCAGGGGTCCTCATAAACAGCCATCTCTTCCTGTACTCTATACCCTGTCTAGCCAGGCTACA CATGAAGCTGTTCATCTCCTTTGCAGGATGTTGGTCTTTGATCCATCCAAAAGAATATCCGCTAAGGATGCCTTAGCCCACCCCTACCTA GATGAAGGGCGACTACGATATCACACATGTATGTGTAAATGTTGCTTTTCCACCTCCACTGGAAGAGTTTATACCAGTGACTTTGAGCCT GTCACCAATCCCAAATTTGATGACACTTTCGAGAAGAACCTCAGTTCTGTCCGACAGGTTAAAGAAATTATTCATCAGTTCATTTTGGAA CAGCAGAAAGGAAACAGAGTGCCTCTCTGCATCAACCCTCAGTCTGCTGCTTTTAAGAGCTTTATTAGTTCCACTGTTGCTCAGCCATCT GAGATGCCCCCATCTCCTCTGGTGTGGGAGTGATGGTGGAAGATAATGTACTACTGAAGATGTAATGTAGCTTTCCACTGGAGTCTGGGA TTTGCAATTCTGGAGGTTAATCATGCTTGTACTGTAATTTTACTAATGAAGTTTTAAATTAACAACCACTACTTGTATGATATGAATAAT ATTTAGAAATGTTACTAGACTTTTAATCTTGTAAAGTGGTTGTGCTTTTAGAAGAAAAATATTTTACCCAGAGTTGCACATGTTTTATGA ATTTAGTGCAGCTGTTATGGCTCACCTCAGAACAAAAGAGAATTGAACCAAATTTGGGAGTTTGGGGTTTTATGTTTTGTTTTTCTTTTC TAAAATGAAGTGAGATTGTTCACACACACACACACACACACACACACACACAAACACAAAGGACAGTCATACATTTTGATATTTGAGCCA TTCCTAAAGATTTGGGGTTTTCTAAAACTAAAGAATCTAGGAACCTTGCCTGCGACCAATCATGGAGCCACGTGAGCTGATCGTGGCTGC ACCTGGGGGGAGGGTAGGGAGGAGGGGCATGCCACCTAATGATCAAGCCCTATAATTAGCTTCTCATTAGAGCCGTGATGGTGATGTGTG CTGTCTAAAATCCAATGTTGTGGGTAGAGAGAATGAGTTTGTGACTAGGAGAGACTAAACTTTTGTTTTCCTTACCCAGTATAAATATAT ATATATATATTTAATCTATTTTTATTAGAAGTTTTTCTGCTCTTTCTTACATAAAAGAACCCCAAGCATGCATCTTTCATGTGTGTAAAT AATTCATTTCTGGGCTAATTTCAAAAGAATCCCAATATTGCTGTATAGAAAGAGAACTAGCTTGCACATTTTAGGTCTGTGAAATTTTGT GAGACTTTTCCTGCACTGGACAGTAAAAAAATAATAAAAGACAAAAACAAATTTAAAAAAAAATTTAAGCCACAAAAAAAGGCACATAGG GAATTATGTCAAATGTGTTTGTGTCCTTAGGCAAAGCTGTGGGAGTCTTGAAATGTCACAGTAGTAAATAACTTATTACTTTTTGACAAG TTCTTTTTTTCTGTTGGAACACTGAATTCTTCTGTGCATATGTACATATGAATACAAATCGAAGGCCTCTACCTCCTGGAGTTATACAAC TTGGCTTGTTTACCTCCACATGCTGATGATGACTATTTTTTTTTTTTGAGTTCAGTGTGGAGACTTGAAACTTGAATGTCCCTTCCAACT TTTATATTAAAAATAAAAAGACAAGAAAATTGAAGATCATTTTTCACCTGTACAAGGAATACTAATGGATCGTCTTAAAATTGGTCTAGG AAAAAACCTTGGTGTGTGTTATGGACAATTAACTGTTAAAGTTATTGTAAGTTATCTGTATTTAGCAGAGTATTTTCAACTTGAGTGATC TGAGCTGAATTTGAAGACTATTAATAAGTTATGTTTGGAAGTTTTAACTTCAATGAAGTAATTATTTGCTGTGAAAGAAACAAACATTGA ATTACTAAACAAAGATGGTGCAATATCTTTGTTTTTTTTTTATGAGGCTCCTGAGAATCAACCCAACTGAAGCATTTCAATTCACTTGAA TGAGAAACGTGTTTAGTATCAAAAGAGCCCAAGAAGACACTGGTGTGAAAGGTACAATCTCAGAGGTTGGTCAATTACCGTGGCACACTT |
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FusionGenePPI for KHDC1_NLK |
| 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 |
| KHDC1 | NLK | LEF1, CTNNB1, TCF7L2, FBXW4, FBXW5, SKP2, CUL1, MYB, HIPK2, MYBL1, MYBL2, CREBBP, FOXO4, FOXO1, FOXO3, ASGR1, ELAVL1, USP4, ATXN1, TAB2, MAP3K7, NLK, SMAD4, RCHY1, SDR16C5, KPNB1, RANBP2, C2orf44, FAM222B, FAM222A, RNF219, TNKS1BP1, SKI, RANGAP1, TLE3, CEP97, PASK, CNOT2, CCP110, UBAP2L, TRPS1, CNOT11, BACH1, CNOT3, SHANK2, PKM, TP53, MDM2, GRN, KRTAP5-9, ZHX3, QRICH1, KRTAP4-2, KRTAP10-3, KRTAP5-6, STAT5A |
| - 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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RelatedDrugs for KHDC1_NLK |
| Drugs targeting genes involved in this fusion gene. (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 KHDC1_NLK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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