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Fusion gene ID: 18006 |
FusionGeneSummary for JAK1_HSD11B1 |
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Fusion gene information | Fusion gene name: JAK1_HSD11B1 | Fusion gene ID: 18006 | Hgene | Tgene | Gene symbol | JAK1 | HSD11B1 | Gene ID | 3716 | 3290 |
Gene name | Janus kinase 1 | hydroxysteroid 11-beta dehydrogenase 1 | |
Synonyms | JAK1A|JAK1B|JTK3 | 11-DH|11-beta-HSD1|CORTRD2|HDL|HSD11|HSD11B|HSD11L|SDR26C1 | |
Cytomap | 1p31.3 | 1q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | tyrosine-protein kinase JAK1 | corticosteroid 11-beta-dehydrogenase isozyme 1short chain dehydrogenase/reductase family 26C member 1 | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | P23458 | P28845 | |
Ensembl transtripts involved in fusion gene | ENST00000342505, ENST00000465376, | ENST00000367028, ENST00000261465, ENST00000367027, | |
Fusion gene scores | * DoF score | 6 X 4 X 5=120 | 3 X 3 X 3=27 |
# samples | 6 | 3 | |
** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: JAK1 [Title/Abstract] AND HSD11B1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | JAK1 | GO:0038110 | interleukin-2-mediated signaling pathway | 11909529 |
Hgene | JAK1 | GO:0046677 | response to antibiotic | 16280321 |
![]() (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 | OV | TCGA-09-1667-01C | JAK1 | chr1 | 65432016 | - | HSD11B1 | chr1 | 209878262 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-5UTR | ENST00000342505 | ENST00000367028 | JAK1 | chr1 | 65432016 | - | HSD11B1 | chr1 | 209878262 | + |
5UTR-5UTR | ENST00000342505 | ENST00000261465 | JAK1 | chr1 | 65432016 | - | HSD11B1 | chr1 | 209878262 | + |
5UTR-5UTR | ENST00000342505 | ENST00000367027 | JAK1 | chr1 | 65432016 | - | HSD11B1 | chr1 | 209878262 | + |
intron-5UTR | ENST00000465376 | ENST00000367028 | JAK1 | chr1 | 65432016 | - | HSD11B1 | chr1 | 209878262 | + |
intron-5UTR | ENST00000465376 | ENST00000261465 | JAK1 | chr1 | 65432016 | - | HSD11B1 | chr1 | 209878262 | + |
intron-5UTR | ENST00000465376 | ENST00000367027 | JAK1 | chr1 | 65432016 | - | HSD11B1 | chr1 | 209878262 | + |
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FusionProtFeatures for JAK1_HSD11B1 |
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Hgene | Tgene |
JAK1 | HSD11B1 |
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}. | Catalyzes reversibly the conversion of cortisol to theinactive metabolite cortisone. Catalyzes reversibly the conversionof 7-ketocholesterol to 7-beta-hydroxycholesterol. In intactcells, the reaction runs only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity).{ECO:0000250}. |
![]() * 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 JAK1_HSD11B1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for JAK1_HSD11B1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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 | HSD11B1 | CD36, GKAP1, DAD1, TMX2, UGT8, TMBIM6, GLB1L2, CDC42SE2, RAB18, NHLRC3, TOR1A, FAM69A, TMX4, MANEA, EGFR, NPTX1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for JAK1_HSD11B1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | JAK1 | P23458 | DB08877 | Ruxolitinib | Tyrosine-protein kinase JAK1 | small molecule | approved |
Hgene | JAK1 | P23458 | DB08895 | Tofacitinib | Tyrosine-protein kinase JAK1 | small molecule | approved|investigational |
Tgene | HSD11B1 | P28845 | DB00635 | Prednisone | Corticosteroid 11-beta-dehydrogenase isozyme 1 | small molecule | approved|vet_approved |
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RelatedDiseases for JAK1_HSD11B1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | HSD11B1 | C0020538 | Hypertensive disease | 3 | CTD_human |
Tgene | HSD11B1 | C0028754 | Obesity | 2 | CTD_human |
Tgene | HSD11B1 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Tgene | HSD11B1 | C0011570 | Mental Depression | 1 | PSYGENET |
Tgene | HSD11B1 | C0011581 | Depressive disorder | 1 | PSYGENET |
Tgene | HSD11B1 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Tgene | HSD11B1 | C0020456 | Hyperglycemia | 1 | CTD_human |
Tgene | HSD11B1 | C0021655 | Insulin Resistance | 1 | CTD_human |
Tgene | HSD11B1 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
Tgene | HSD11B1 | C0311277 | Obesity, Abdominal | 1 | CTD_human |
Tgene | HSD11B1 | C1291245 | Cortisone reductase deficiency | 1 | CTD_human |