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Fusion gene ID: 23876 |
FusionGeneSummary for NDUFS1_KRTAP6-2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NDUFS1_KRTAP6-2 | Fusion gene ID: 23876 | Hgene | Tgene | Gene symbol | NDUFS1 | KRTAP6-2 | Gene ID | 4719 | 337967 |
| Gene name | NADH:ubiquinone oxidoreductase core subunit S1 | keratin associated protein 6-2 | |
| Synonyms | CI-75Kd|CI-75k|PRO1304 | KAP6.2 | |
| Cytomap | 2q33.3 | 21q22.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)complex I 75kDa subunitcomplex I, mitochondrial respiratory chain, 75-kD subunitmitochondrial NADH-ubiquinone | keratin-associated protein 6-2 | |
| Modification date | 20180523 | 20180329 | |
| UniProtAcc | P28331 | Q3LI66 | |
| Ensembl transtripts involved in fusion gene | ENST00000233190, ENST00000423725, ENST00000457011, ENST00000440274, ENST00000455934, ENST00000449699, ENST00000432169, | ENST00000334897, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: NDUFS1 [Title/Abstract] AND KRTAP6-2 [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 |
| Hgene | NDUFS1 | GO:0008637 | apoptotic mitochondrial changes | 15186778 |
| 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-A8-A09Q-01A | NDUFS1 | chr2 | 206992521 | - | KRTAP6-2 | chr21 | 31971215 | - |
| * 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 |
| Frame-shift | ENST00000233190 | ENST00000334897 | NDUFS1 | chr2 | 206992521 | - | KRTAP6-2 | chr21 | 31971215 | - |
| In-frame | ENST00000423725 | ENST00000334897 | NDUFS1 | chr2 | 206992521 | - | KRTAP6-2 | chr21 | 31971215 | - |
| Frame-shift | ENST00000457011 | ENST00000334897 | NDUFS1 | chr2 | 206992521 | - | KRTAP6-2 | chr21 | 31971215 | - |
| Frame-shift | ENST00000440274 | ENST00000334897 | NDUFS1 | chr2 | 206992521 | - | KRTAP6-2 | chr21 | 31971215 | - |
| Frame-shift | ENST00000455934 | ENST00000334897 | NDUFS1 | chr2 | 206992521 | - | KRTAP6-2 | chr21 | 31971215 | - |
| Frame-shift | ENST00000449699 | ENST00000334897 | NDUFS1 | chr2 | 206992521 | - | KRTAP6-2 | chr21 | 31971215 | - |
| Frame-shift | ENST00000432169 | ENST00000334897 | NDUFS1 | chr2 | 206992521 | - | KRTAP6-2 | chr21 | 31971215 | - |
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FusionProtFeatures for NDUFS1_KRTAP6-2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NDUFS1 | KRTAP6-2 |
| In the hair cortex, hair keratin intermediate filamentsare embedded in an interfilamentous matrix, consisting of hairkeratin-associated proteins (KRTAP), which are essential for theformation of a rigid and resistant hair shaft through theirextensive disulfide bond cross-linking with abundant cysteineresidues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins. |
| 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 NDUFS1_KRTAP6-2 |
| 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_NDUFS1_ENST00000423725_chr2_206992521_-_KRTAP6-2_ENST00000334897_chr21_31971215_-_571aa MQIPRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFLLANHPLDCPICDQGGECDLQDQSMMFG NDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCTRCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDICPVGALTSKPYA FTARPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQRLTEPMVRNEKGLLTYTSWEDALSRVA GMLQSFQGKDVAAIAGGLVDAEALVALKDLLNRVDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNAR IRKSWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSALQRNDGAAILAAVSSIAQKIRMTSGVT GDWKVMNILHRIASQVAALDLGYKPGVEAIRKNPPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYV |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_NDUFS1_ENST00000423725_chr2_206992521_-_KRTAP6-2_ENST00000334897_chr21_31971215_-_1713nt ATGCAGATCCCTCGATTCTGTTATCATGAAAGGTTGTCTGTTGCTGGAAACTGCAGGATGTGCCTTGTTGAAATTGAGAAAGCCCCTAAG GTTGTAGCTGCTTGTGCCATGCCAGTAATGAAGGGTTGGAATATCCTAACAAACTCAGAAAAATCCAAAAAAGCCAGGGAAGGTGTGATG GAGTTCTTATTAGCAAATCACCCATTGGACTGTCCTATTTGTGACCAGGGAGGTGAATGTGATCTGCAGGACCAGTCCATGATGTTTGGA AATGATAGGAGCCGATTTTTAGAGGGGAAGCGTGCTGTGGAAGACAAGAACATTGGGCCATTGGTAAAGACCATCATGACAAGATGTATA CAGTGTACTCGCTGCATCAGGTTTGCAAGTGAGATTGCAGGAGTAGATGATTTGGGAACAACAGGCAGAGGAAATGATATGCAAGTTGGC ACATACATTGAAAAGATGTTCATGTCTGAACTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCC TTTACTGCCCGGCCTTGGGAAACAAGAAAGACAGAATCCATTGATGTAATGGATGCGGTTGGAAGTAATATTGTGGTTAGCACAAGAACT GGAGAAGTGATGAGGATTTTGCCACGTATGCATGAGGACATCAATGAAGAGTGGATCTCTGATAAAACCAGATTTGCCTATGATGGGCTA AAACGTCAAAGACTTACCGAGCCAATGGTCAGAAATGAAAAAGGGCTTTTAACCTATACTTCTTGGGAGGATGCGCTCTCTCGCGTAGCT GGAATGTTGCAGAGTTTTCAAGGCAAAGATGTGGCAGCAATTGCAGGTGGCTTGGTGGATGCTGAAGCCCTGGTAGCTCTCAAAGATTTG CTTAATAGAGTGGACTCTGACACCTTATGCACTGAAGAGGTCTTCCCCACTGCAGGAGCTGGCACAGATTTGCGTTCCAATTATCTTCTT AATACTACAATTGCTGGTGTGGAAGAGGCAGATGTTGTTCTTCTGGTTGGTACAAACCCACGTTTTGAGGCACCACTGTTTAATGCTAGA ATTCGAAAGAGCTGGCTGCATAATGACTTAAAAGTGGCCCTTATAGGCAGTCCAGTGGACCTCACTTACACATATGACCACCTGGGAGAC TCCCCCAAAATTCTTCAAGACATTGCTTCGGGAAGCCATCCATTTAGCCAGGTCCTAAAGGAAGCTAAAAAACCAATGGTGGTTTTAGGC AGTTCTGCACTCCAAAGAAATGATGGAGCAGCAATTCTTGCAGCTGTTTCTAGCATTGCACAAAAGATTCGGATGACTAGTGGTGTTACT GGTGATTGGAAAGTTATGAATATCCTTCATAGGATTGCAAGTCAAGTAGCTGCTTTGGACCTTGGCTATAAGCCTGGGGTGGAAGCAATT CGGAAGAACCCTCCCAAGGTGCTGTTTCTCCTGGGAGCAGATGGAGGTTGTATCACACGACAGGATTTGCCAAAGGATTGTTTCATTATT TATCAAGGACATCATGGTGATGTTGGGGCTCCCATAGCTGATGTTATTCTCCCAGGAGCTGCTTACACAGAGAAGTCTGCTACATATGTC AACACTGAGGGTAGAGCTCAGCAGACTAAGGTAGCAGTGACACCTCCTGGCTTGGCAAGAGAAGACTGGAAAATTATAAGAGCACTCTCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_NDUFS1_ENST00000423725_chr2_206992521_-_KRTAP6-2_ENST00000334897_chr21_31971215_-_2276nt GACAAACTTGTCGAATGCAAGGATTCTAGTCCCTCCGGGCTTTCCGTTCTCCAGGCCCGGCTGACAGAGTTAGCCGAGGCCGCCATATTG AATAAGCGACCCGGCCTCCTAGGGGGTCGTCGTGGTCCAGACAGTTTAGCAGAACAGCCTCCGCGGCTCCGGGGAGAAGCAATATGTTAA GGATACCTGTAAGAAAGGCCTTAGTAGGCCTTTCTAAGTCTCCTAAAGGATGTGGCTTGTGAGAAGGTTGGCATGCAGATCCCTCGATTC TGTTATCATGAAAGGTTGTCTGTTGCTGGAAACTGCAGGATGTGCCTTGTTGAAATTGAGAAAGCCCCTAAGGTTGTAGCTGCTTGTGCC ATGCCAGTAATGAAGGGTTGGAATATCCTAACAAACTCAGAAAAATCCAAAAAAGCCAGGGAAGGTGTGATGGAGTTCTTATTAGCAAAT CACCCATTGGACTGTCCTATTTGTGACCAGGGAGGTGAATGTGATCTGCAGGACCAGTCCATGATGTTTGGAAATGATAGGAGCCGATTT TTAGAGGGGAAGCGTGCTGTGGAAGACAAGAACATTGGGCCATTGGTAAAGACCATCATGACAAGATGTATACAGTGTACTCGCTGCATC AGGTTTGCAAGTGAGATTGCAGGAGTAGATGATTTGGGAACAACAGGCAGAGGAAATGATATGCAAGTTGGCACATACATTGAAAAGATG TTCATGTCTGAACTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGG GAAACAAGAAAGACAGAATCCATTGATGTAATGGATGCGGTTGGAAGTAATATTGTGGTTAGCACAAGAACTGGAGAAGTGATGAGGATT TTGCCACGTATGCATGAGGACATCAATGAAGAGTGGATCTCTGATAAAACCAGATTTGCCTATGATGGGCTAAAACGTCAAAGACTTACC GAGCCAATGGTCAGAAATGAAAAAGGGCTTTTAACCTATACTTCTTGGGAGGATGCGCTCTCTCGCGTAGCTGGAATGTTGCAGAGTTTT CAAGGCAAAGATGTGGCAGCAATTGCAGGTGGCTTGGTGGATGCTGAAGCCCTGGTAGCTCTCAAAGATTTGCTTAATAGAGTGGACTCT GACACCTTATGCACTGAAGAGGTCTTCCCCACTGCAGGAGCTGGCACAGATTTGCGTTCCAATTATCTTCTTAATACTACAATTGCTGGT GTGGAAGAGGCAGATGTTGTTCTTCTGGTTGGTACAAACCCACGTTTTGAGGCACCACTGTTTAATGCTAGAATTCGAAAGAGCTGGCTG CATAATGACTTAAAAGTGGCCCTTATAGGCAGTCCAGTGGACCTCACTTACACATATGACCACCTGGGAGACTCCCCCAAAATTCTTCAA GACATTGCTTCGGGAAGCCATCCATTTAGCCAGGTCCTAAAGGAAGCTAAAAAACCAATGGTGGTTTTAGGCAGTTCTGCACTCCAAAGA AATGATGGAGCAGCAATTCTTGCAGCTGTTTCTAGCATTGCACAAAAGATTCGGATGACTAGTGGTGTTACTGGTGATTGGAAAGTTATG AATATCCTTCATAGGATTGCAAGTCAAGTAGCTGCTTTGGACCTTGGCTATAAGCCTGGGGTGGAAGCAATTCGGAAGAACCCTCCCAAG GTGCTGTTTCTCCTGGGAGCAGATGGAGGTTGTATCACACGACAGGATTTGCCAAAGGATTGTTTCATTATTTATCAAGGACATCATGGT GATGTTGGGGCTCCCATAGCTGATGTTATTCTCCCAGGAGCTGCTTACACAGAGAAGTCTGCTACATATGTCAACACTGAGGGTAGAGCT CAGCAGACTAAGGTAGCAGTGACACCTCCTGGCTTGGCAAGAGAAGACTGGAAAATTATAAGAGCACTCTCTGAGCAAGGACAACCTCCA CAACCATCACGATGTGCGGCAGCTACTACGGAAACTACTACGGCGACCATGGCTATGGGTGCTGTGGATACGAAGGCCTAGGCTATGGCT ATGGAAGCCTGCGCTGTGGCTATAGCTCCTGCTGTGGCTATGGTCATGGCTACGGCTCCCGCTTCTTCTGTGGCTGTGGCTATGGATGCG GCTCTGGCTACTACTATTGAGGACACCGTGGGAGACTCATCCTCTATCCTGTGACATCGGGATTCACCAATTCTGAACCCCGTATGCTCT |
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FusionGenePPI for NDUFS1_KRTAP6-2 |
| 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 |
| NDUFS1 | CASP3, TNFAIP3, UBC, MYC, ICT1, SIRT7, CUL3, NDUFA9, NDUFS2, NDUFV2, NDUFS7, NDUFV1, NDUFS8, NDUFB9, NDUFA12, NDUFV3, NDUFB5, NDUFB10, ATP5B, ATP5C1, OPA1, SEC24C, RPL27, STX12, RAB5B, TMEM126B, SDHB, CPT1A, MRPL13, RHOT2, BTK, VCAM1, FBXO6, KDM1A, HSFY1, RNF2, EGFR, NDUFS3, NDUFA8, AFG3L2, ATP1A1, ATP6V0D1, CLTC, GNB2, COX2, ND1, ATP1B1, ATP1B3, ATP5F1, CPNE8, MTCH1, MTCH2, SLC25A3, TOMM40, UQCRC2, NDUFS4, RPS15, TECR, UQCRB, VAPA, NTRK1, TCTN3, ECSIT, NDUFS5, NDUFA11, NDUFA13, NDUFAF1, NDUFS6, RAB5C, RAB7A, FGFR1OP2, GOLT1B, MMGT1, MCM2, NDUFA4, C15orf48, CISD3, COQ9, COX6B1, PML, NDUFB11, METTL2A, CCDC120, HOXC9, FAM19A3, SOAT1, ACAP2, PIGS, MBOAT7, EHBP1, GDI1, GPAA1, STOM, COX15, VDAC1, TRIM25 | KRTAP6-2 |
| - 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 NDUFS1_KRTAP6-2 |
| 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 NDUFS1_KRTAP6-2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NDUFS1 | C1656427 | early onset schizophrenia | 2 | PSYGENET |
| Hgene | NDUFS1 | C0007194 | Hypertrophic Cardiomyopathy | 1 | CTD_human;HPO |
| Hgene | NDUFS1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | NDUFS1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | NDUFS1 | C1838979 | MITOCHONDRIAL COMPLEX I DEFICIENCY | 1 | CTD_human;UNIPROT |
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