|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 1531 |
FusionGeneSummary for ALG14_JAK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ALG14_JAK1 | Fusion gene ID: 1531 | Hgene | Tgene | Gene symbol | ALG14 | JAK1 | Gene ID | 199857 | 3716 |
| Gene name | ALG14, UDP-N-acetylglucosaminyltransferase subunit | Janus kinase 1 | |
| Synonyms | CMS15 | JAK1A|JAK1B|JTK3 | |
| Cytomap | 1p21.3 | 1p31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | UDP-N-acetylglucosamine transferase subunit ALG14 homolog | tyrosine-protein kinase JAK1 | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q96F25 | P23458 | |
| Ensembl transtripts involved in fusion gene | ENST00000370205, ENST00000495856, | ENST00000342505, ENST00000465376, | |
| Fusion gene scores | * DoF score | 3 X 2 X 2=12 | 9 X 8 X 4=288 |
| # samples | 3 | 10 | |
| ** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/288*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ALG14 [Title/Abstract] AND JAK1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Kinase involved fusion gene, inframe and retained kinase domain. | ||
| * 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 | JAK1 | GO:0038110 | interleukin-2-mediated signaling pathway | 11909529 |
| Tgene | JAK1 | GO:0046677 | response to antibiotic | 16280321 |
| 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 | RV | BLCA | TCGA-DK-AA6R-01A | ALG14 | chr1 | 95492685 | - | JAK1 | chr1 | 65313358 | - |
| * 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 |
| In-frame | ENST00000370205 | ENST00000342505 | ALG14 | chr1 | 95492685 | - | JAK1 | chr1 | 65313358 | - |
| 5CDS-5UTR | ENST00000370205 | ENST00000465376 | ALG14 | chr1 | 95492685 | - | JAK1 | chr1 | 65313358 | - |
| intron-3CDS | ENST00000495856 | ENST00000342505 | ALG14 | chr1 | 95492685 | - | JAK1 | chr1 | 65313358 | - |
| intron-5UTR | ENST00000495856 | ENST00000465376 | ALG14 | chr1 | 95492685 | - | JAK1 | chr1 | 65313358 | - |
Top |
FusionProtFeatures for ALG14_JAK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ALG14 | JAK1 |
| May be involved in protein N-glycosylation. May play arole in the second step of the dolichol-linked oligosaccharidepathway. May anchor the catalytic subunit ALG13 to the ER.{ECO:0000269|PubMed:16100110}. | Tyrosine kinase of the non-receptor type, involved inthe IFN-alpha/beta/gamma signal pathway (PubMed:7615558). Kinasepartner for the interleukin (IL)-2 receptor (PubMed:11909529).{ECO:0000269|PubMed:11909529, ECO:0000269|PubMed:7615558}. |
| 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 |
| Hgene | ALG14 | chr1:95492685 | chr1:65313358 | ENST00000370205 | - | 3 | 4 | 1_3 | 140 | 217 | Topological domain | Lumenal |
| Hgene | ALG14 | chr1:95492685 | chr1:65313358 | ENST00000370205 | - | 3 | 4 | 4_24 | 140 | 217 | Transmembrane | Helical |
| Tgene | >JAK1 | chr1:95492685 | chr1:65313358 | ENST00000342505 | - | 11 | 25 | 583_855 | 585 | 1155 | Domain | Protein kinase 1 |
| Tgene | >JAK1 | chr1:95492685 | chr1:65313358 | ENST00000342505 | - | 11 | 25 | 875_1153 | 585 | 1155 | Domain | Protein kinase 2 |
| Tgene | >JAK1 | chr1:95492685 | chr1:65313358 | ENST00000342505 | - | 11 | 25 | 881_889 | 585 | 1155 | Nucleotide binding | ATP |
| - 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 | >ALG14 | chr1:95492685 | chr1:65313358 | ENST00000370205 | - | 3 | 4 | 25_216 | 140 | 217 | Topological domain | Cytoplasmic |
| Tgene | JAK1 | chr1:95492685 | chr1:65313358 | ENST00000342505 | - | 11 | 25 | 34_420 | 585 | 1155 | Domain | FERM |
| Tgene | JAK1 | chr1:95492685 | chr1:65313358 | ENST00000342505 | - | 11 | 25 | 439_544 | 585 | 1155 | Domain | SH2 |
Top |
FusionGeneSequence for ALG14_JAK1 |
| 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_ALG14_ENST00000370205_chr1_95492685_-_JAK1_ENST00000342505_chr1_65313358_-_710aa MVCVLVLAAAAGAVAVFLILRIWVVLRSMDVTPRESLSILVVAGSGGHTTEILRLLGSLSNAYSPRHTVIADTDEMSANKINSFELDRAD RDPSNMTTKYYIHRIPRSREVQQSWPSTVFTTLHSMWLSFPLIHRVKPDLGEHLGRGTRTHITSGTLMDYKDDEGTSEEKKIKVILKVLD PSHRDISLAFFEAASMMRQVSHKHIVYLTGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSYLEDKDLVHGNV CTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSKNLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERF TESRCRPVTPSCKELADLMTRCMNTDPNQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRTD PEGDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLTHENIVKYKGICTEDGGNGIKLIMEFLPSGSLKETLPKNKNKINLKQQLKTAV QICKGMDTLGSRQYVHRDLAARNVLVESEHQVKIGDFGLTKAIETDKETYTVKDDRDSPVFWTAPECLMQSKFTIASDVWSFGVTLHELL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ALG14_ENST00000370205_chr1_95492685_-_JAK1_ENST00000342505_chr1_65313358_-_2130nt ATGGTGTGCGTTCTCGTTCTAGCTGCGGCCGCAGGAGCTGTGGCGGTTTTCCTAATCCTGCGAATATGGGTAGTGCTTCGTTCCATGGAC GTTACGCCCCGGGAGTCTCTCAGTATCTTGGTAGTGGCTGGGTCCGGTGGGCATACCACTGAGATCCTGAGGCTGCTTGGGAGCTTGTCC AATGCCTACTCACCTAGACATTATGTCATTGCTGACACTGATGAAATGAGTGCCAATAAAATAAATTCTTTTGAACTAGATCGAGCTGAT AGAGACCCTAGTAACATGTATACCAAATACTACATTCACCGAATTCCAAGAAGCCGGGAGGTTCAGCAGTCCTGGCCCTCCACCGTTTTC ACCACCTTGCACTCCATGTGGCTCTCCTTTCCCCTAATTCACAGGGTGAAGCCAGATTTGGGCGAGCACCTTGGGAGAGGCACGAGAACA CACATCTATTCTGGGACCCTGATGGATTACAAGGATGACGAAGGAACTTCTGAAGAGAAGAAGATAAAAGTGATCCTCAAAGTCTTAGAC CCCAGCCACAGGGATATTTCCCTGGCCTTCTTCGAGGCAGCCAGCATGATGAGACAGGTCTCCCACAAACACATCGTGTACCTCTATGGC GTCTGTGTCCGCGACGTGGAGAATATCATGGTGGAAGAGTTTGTGGAAGGGGGTCCTCTGGATCTCTTCATGCACCGGAAAAGCGATGTC CTTACCACACCATGGAAATTCAAAGTTGCCAAACAGCTGGCCAGTGCCCTGAGCTACTTGGAGGATAAAGACCTGGTCCATGGAAATGTG TGTACTAAAAACCTCCTCCTGGCCCGTGAGGGCATCGACAGTGAGTGTGGCCCATTCATCAAGCTCAGTGACCCCGGCATCCCCATTACG GTGCTGTCTAGGCAAGAATGCATTGAACGAATCCCATGGATTGCTCCTGAGTGTGTTGAGGACTCCAAGAACCTGAGTGTGGCTGCTGAC AAGTGGAGCTTTGGAACCACGCTCTGGGAAATCTGCTACAATGGCGAGATCCCCTTGAAAGACAAGACGCTGATTGAGAAAGAGAGATTC TATGAAAGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGCTGGCTGACCTCATGACCCGCTGCATGAACTATGACCCCAATCAGAGG CCTTTCTTCCGAGCCATCATGAGAGACATTAATAAGCTTGAAGAGCAGAATCCAGATATTGTTTCAGAAAAAAAACCAGCAACTGAAGTG GACCCCACACATTTTGAAAAGCGCTTCCTAAAGAGGATCCGTGACTTGGGAGAGGGCCACTTTGGGAAGGTTGAGCTCTGCAGGTATGAC CCCGAAGGGGACAATACAGGGGAGCAGGTGGCTGTTAAATCTCTGAAGCCTGAGAGTGGAGGTAACCACATAGCTGATCTGAAAAAGGAA ATCGAGATCTTAAGGAACCTCTATCATGAGAACATTGTGAAGTACAAAGGAATCTGCACAGAAGACGGAGGAAATGGTATTAAGCTCATC ATGGAATTTCTGCCTTCGGGAAGCCTTAAGGAATATCTTCCAAAGAATAAGAACAAAATAAACCTCAAACAGCAGCTAAAATATGCCGTT CAGATTTGTAAGGGGATGGACTATTTGGGTTCTCGGCAATACGTTCACCGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGAGTGAACAC CAAGTGAAAATTGGAGACTTCGGTTTAACCAAAGCAATTGAAACCGATAAGGAGTATTACACCGTCAAGGATGACCGGGACAGCCCTGTG TTTTGGTATGCTCCAGAATGTTTAATGCAATCTAAATTTTATATTGCCTCTGACGTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTG ACTTACTGTGATTCAGATTCTAGTCCCATGGCTTTGTTCCTGAAAATGATAGGCCCAACCCATGGCCAGATGACAGTCACAAGACTTGTG AATACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCTAACTGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGAATTCCAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ALG14_ENST00000370205_chr1_95492685_-_JAK1_ENST00000342505_chr1_65313358_-_3510nt GACAGCGGCTGGTCCCCGGAAGTTGGACGCATGCGCCGTTTCTCTGCATGGTGTGCGTTCTCGTTCTAGCTGCGGCCGCAGGAGCTGTGG CGGTTTTCCTAATCCTGCGAATATGGGTAGTGCTTCGTTCCATGGACGTTACGCCCCGGGAGTCTCTCAGTATCTTGGTAGTGGCTGGGT CCGGTGGGCATACCACTGAGATCCTGAGGCTGCTTGGGAGCTTGTCCAATGCCTACTCACCTAGACATTATGTCATTGCTGACACTGATG AAATGAGTGCCAATAAAATAAATTCTTTTGAACTAGATCGAGCTGATAGAGACCCTAGTAACATGTATACCAAATACTACATTCACCGAA TTCCAAGAAGCCGGGAGGTTCAGCAGTCCTGGCCCTCCACCGTTTTCACCACCTTGCACTCCATGTGGCTCTCCTTTCCCCTAATTCACA GGGTGAAGCCAGATTTGGGCGAGCACCTTGGGAGAGGCACGAGAACACACATCTATTCTGGGACCCTGATGGATTACAAGGATGACGAAG GAACTTCTGAAGAGAAGAAGATAAAAGTGATCCTCAAAGTCTTAGACCCCAGCCACAGGGATATTTCCCTGGCCTTCTTCGAGGCAGCCA GCATGATGAGACAGGTCTCCCACAAACACATCGTGTACCTCTATGGCGTCTGTGTCCGCGACGTGGAGAATATCATGGTGGAAGAGTTTG TGGAAGGGGGTCCTCTGGATCTCTTCATGCACCGGAAAAGCGATGTCCTTACCACACCATGGAAATTCAAAGTTGCCAAACAGCTGGCCA GTGCCCTGAGCTACTTGGAGGATAAAGACCTGGTCCATGGAAATGTGTGTACTAAAAACCTCCTCCTGGCCCGTGAGGGCATCGACAGTG AGTGTGGCCCATTCATCAAGCTCAGTGACCCCGGCATCCCCATTACGGTGCTGTCTAGGCAAGAATGCATTGAACGAATCCCATGGATTG CTCCTGAGTGTGTTGAGGACTCCAAGAACCTGAGTGTGGCTGCTGACAAGTGGAGCTTTGGAACCACGCTCTGGGAAATCTGCTACAATG GCGAGATCCCCTTGAAAGACAAGACGCTGATTGAGAAAGAGAGATTCTATGAAAGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGC TGGCTGACCTCATGACCCGCTGCATGAACTATGACCCCAATCAGAGGCCTTTCTTCCGAGCCATCATGAGAGACATTAATAAGCTTGAAG AGCAGAATCCAGATATTGTTTCAGAAAAAAAACCAGCAACTGAAGTGGACCCCACACATTTTGAAAAGCGCTTCCTAAAGAGGATCCGTG ACTTGGGAGAGGGCCACTTTGGGAAGGTTGAGCTCTGCAGGTATGACCCCGAAGGGGACAATACAGGGGAGCAGGTGGCTGTTAAATCTC TGAAGCCTGAGAGTGGAGGTAACCACATAGCTGATCTGAAAAAGGAAATCGAGATCTTAAGGAACCTCTATCATGAGAACATTGTGAAGT ACAAAGGAATCTGCACAGAAGACGGAGGAAATGGTATTAAGCTCATCATGGAATTTCTGCCTTCGGGAAGCCTTAAGGAATATCTTCCAA AGAATAAGAACAAAATAAACCTCAAACAGCAGCTAAAATATGCCGTTCAGATTTGTAAGGGGATGGACTATTTGGGTTCTCGGCAATACG TTCACCGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGAGTGAACACCAAGTGAAAATTGGAGACTTCGGTTTAACCAAAGCAATTGAAA CCGATAAGGAGTATTACACCGTCAAGGATGACCGGGACAGCCCTGTGTTTTGGTATGCTCCAGAATGTTTAATGCAATCTAAATTTTATA TTGCCTCTGACGTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTGACTTACTGTGATTCAGATTCTAGTCCCATGGCTTTGTTCCTGA AAATGATAGGCCCAACCCATGGCCAGATGACAGTCACAAGACTTGTGAATACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCTAACT GTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGAATTCCAACCATCCAATCGGACAAGCTTTCAGAACCTTATTGAAGGATTTG AAGCACTTTTAAAATAAGAAGCATGAATAACATTTAAATTCCACAGATTATCAAGTCCTTCTCCTGCAACAAATGCCCAAGTCATTTTTT AAAAATTTCTAATGAAAGAAGTTTGTGTTCTGTCCAAAAAGTCACTGAACTCATACTTCAGTACATATACATGTATAAGGCACACTGTAG TGCTTAATATGTGTAAGGACTTCCTCTTTAAATTTGGTACCAGTAACTTAGTGACACATAATGACAACCAAAATATTTGAAAGCACTTAA GCACTCCTCCTTGTGGAAAGAATATACCACCATTTCATCTGGCTAGTTCACCATCACAACTGCATTACCAAAAGGGGATTTTTGAAAACG AGGAGTTGACCAAAATAATATCTGAAGATGATTGCTTTTCCCTGCTGCCAGCTGATCTGAAATGTTTTGCTGGCACATTAATCATAGATA AAGAAAGATTGATGGACTTAGCCCTCAAATTTCAGTATCTATACAGTACTAGACCATGCATTCTTAAAATATTAGATACCAGGTAGTATA TATTGTTTCTGTACAAAAATGACTGTATTCTCTCACCAGTAGGACTTAAACTTTGTTTCTCCAGTGGCTTAGCTCCTGTTCCTTTGGGTG ATCACTAGCACCCATTTTTGAGAAAGCTGGTTCTACATGGGGGGATAGCTGTGGAATAGATAATTTGCTGCATGTTAATTCTCAAGAACT AAGCCTGTGCCAGTGCTTTCCTAAGCAGTATACCTTTAATCAGAACTCATTCCCAGAACCTGGATGCTATTACACATGCTTTTAAGAAAC GTCAATGTATATCCTTTTATAACTCTACCACTTTGGGGCAAGCTATTCCAGCACTGGTTTTGAATGCTGTATGCAACCAGTCTGAATACC ACATACGCTGCACTGTTCTTAGAGGGTTTCCATACTTACCACCGATCTACAAGGGTTGATCCCTGTTTTTACCATCAATCATCACCCTGT GGTGCAACACTTGAAAGACCCGGCTAGAGGCACTATGGACTTCAGGATCCACTAGACAGTTTTCAGTTTGCTTGGAGGTAGCTGGGTAAT CAAAAATGTTTAGTCATTGATTCAATGTGAACGATTACGGTCTTTATGACCAAGAGTCTGAAAATCTTTTTGTTATGCTGTTTAGTATTC GTTTGATATTGTTACTTTTCACCTGTTGAGCCCAAATTCAGGATTGGTTCAGTGGCAGCAATGAAGTTGCCATTTAAATTTGTTCATAGC CTACATCACCAAGGTCTCTGTGTCAAACCTGTGGCCACTCTATATGCACTTTGTTTACTCTTTATACAAATAAATATACTAAAGACTTTA |
Top |
FusionGenePPI for ALG14_JAK1 |
| 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 |
| ALG14 | HAUS7, FADS3 | JAK1 | ATIC, ARRB1, ELF3, STAT3, ABL1, ABL2, GNB2L1, IL27RA, PRMT5, SHB, IL10RA, PTK2B, TEC, BTK, IRS1, IGF1R, BRCA1, IL2RB, IL6ST, STAM2, PTPN11, TYK2, TNFRSF1A, STAT5B, STAT5A, IRS2, ELP2, IL21R, GRB2, CSF3R, IL5RA, IL9R, PTPN6, PLAUR, IFNAR2, IL4R, IFNGR1, TSHR, GHR, RAF1, AGO4, CSF2RB, TIRAP, HIST3H3, SIRT1, SOCS1, SOCS3, EGFR, TOP1, STAT6, EIF4A3, MAGOH, SMURF1, IL2RG, JAK1, EIF2AK2, HSP90AA1, ERBB2, INSR, STAT1, UBL4A, JAK3, PLCG1, NPM1, PLA2G4A, MDM2, NOC2L, PML, TAGLN, DTX3L, DSP, FLG2, RNF125, TGFBR2, LPAR6, NTRK1, KRAS, CTDSPL2, FAM46A, KIF24, EID1, CFTR, OSMR, LAMP2, LAMP3, IL13RA2, MANSC1, APLNR, MAS1, HAVCR2, SLC15A1, LRRIQ1, CYLD |
| - 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 |
Top |
RelatedDrugs for ALG14_JAK1 |
| 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 |
| Tgene | JAK1 | P23458 | DB08877 | Ruxolitinib | Tyrosine-protein kinase JAK1 | small molecule | approved |
| Tgene | JAK1 | P23458 | DB08895 | Tofacitinib | Tyrosine-protein kinase JAK1 | small molecule | approved|investigational |
Top |
RelatedDiseases for ALG14_JAK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ALG14 | C4015596 | MYASTHENIC SYNDROME, CONGENITAL, 15 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|