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mutLBSgeneDB |
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| Gene summary for JAK1 |
 Gene summary |
| Basic gene Info. | Gene symbol | JAK1 |
| Gene name | Janus kinase 1 | |
| Synonyms | JAK1A|JAK1B|JTK3 | |
| Cytomap | UCSC genome browser: 1p32.3-p31.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002227.2, | |
| Description | tyrosine-protein kinase JAK1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 147795 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000162434 | ||
| HPRD : 00992 | ||
| Vega : OTTHUMG00000009310 | ||
| Protein | UniProt: P23458 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_JAK1 | |
| BioGPS: 3716 | ||
| Pathway | NCI Pathway Interaction Database: JAK1 | |
| KEGG: JAK1 | ||
| REACTOME: JAK1 | ||
| Pathway Commons: JAK1 | ||
| Context | iHOP: JAK1 | |
| ligand binding site mutation search in PubMed: JAK1 | ||
| UCL Cancer Institute: JAK1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0038110 | interleukin-2-mediated signaling pathway | 11909529 | GO:0046677 | response to antibiotic | 16280321 |
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| Ligand binding site mutations for JAK1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R879 | R879H | HNSC | 1 | G962 | G962E | STAD | 1 | F958 | F958C | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for JAK1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | F958 | F958C | -1.2603595 | R879 | R879H | -1.1397322 | G962 | G962E | -0.086474565 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for JAK1 from PDB |
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| Differential gene expression and gene-gene network for JAK1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for JAK1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for JAK1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB04716 | 2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE | Small molecule |  |
| Experimental | DB08183 | 3-{(3R,4R)-4-methyl-3-[methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino]piperidin-1-yl}-3-oxopropanenitrile | Small molecule |  |
| Approved | DB08877 | Ruxolitinib | Small molecule |  |
| Approved|investigational | DB08895 | Tofacitinib | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of JAK1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MI1 | CP-690,550 | 3eyg | A | F958 | 0NH | 1-[4-METHYL-1-(METHYLSULFONYL)PIPERIDIN-4-YL]-1,6- DIHYDROIMIDAZO[4,5-D]PYRROLO[2,3-B]PYRIDINE | 4e4l | A | F958 | 0NH | 1-[4-METHYL-1-(METHYLSULFONYL)PIPERIDIN-4-YL]-1,6- DIHYDROIMIDAZO[4,5-D]PYRROLO[2,3-B]PYRIDINE | 4e4l | B | F958 | 0NH | 1-[4-METHYL-1-(METHYLSULFONYL)PIPERIDIN-4-YL]-1,6- DIHYDROIMIDAZO[4,5-D]PYRROLO[2,3-B]PYRIDINE | 4e4l | D | F958 | 0NL | TERT-BUTYL [(1R,3R)-3-(IMIDAZO[4,5-D]PYRROLO[2,3- B]PYRIDIN-1(6H)-YL)CYCLOPENTYL]CARBAMATE | 4e4n | A | F958 | 0NL | TERT-BUTYL [(1R,3R)-3-(IMIDAZO[4,5-D]PYRROLO[2,3- B]PYRIDIN-1(6H)-YL)CYCLOPENTYL]CARBAMATE | 4e4n | B | F958 | C5I | 3-OXO-3-[(3R)-3-(PYRROLO[2,3-B][1,2,3]TRIAZOLO[4,5- D]PYRIDIN-1(6H)-YL)PIPERIDIN-1-YL]PROPANENITRILE | 4i5c | B | F958 | 1Q4 | 4-(CYCLOHEXYLAMINO)PYRIDO[3,4-D]PYRIMIDIN-8(7H)-ONE | 4k77 | A | F958 | 1Q4 | 4-(CYCLOHEXYLAMINO)PYRIDO[3,4-D]PYRIMIDIN-8(7H)-ONE | 4k77 | B | F958 | IZA | 2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE | 3eyh | A | F958 G962 | 0NT | [4-(IMIDAZO[4,5-D]PYRROLO[2,3-B]PYRIDIN-1(6H)-YL) PIPERIDIN-1-YL][(2S)-1-(PROPAN-2-YL)PYRROLIDIN-2- YL]METHANONE | 4e5w | A | F958 G962 | 0NT | [4-(IMIDAZO[4,5-D]PYRROLO[2,3-B]PYRIDIN-1(6H)-YL) PIPERIDIN-1-YL][(2S)-1-(PROPAN-2-YL)PYRROLIDIN-2- YL]METHANONE | 4e5w | B | F958 G962 | JAK | 2-METHYL-1-(PIPERIDIN-4-YL)-1,6-DIHYDROIMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDINE | 4ehz | A | F958 G962 | JAK | 2-METHYL-1-(PIPERIDIN-4-YL)-1,6-DIHYDROIMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDINE | 4ehz | B | F958 G962 | JAK | 2-METHYL-1-(PIPERIDIN-4-YL)-1,6-DIHYDROIMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDINE | 4ehz | C | F958 G962 | JAK | 2-METHYL-1-(PIPERIDIN-4-YL)-1,6-DIHYDROIMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDINE | 4ehz | D | F958 G962 | 0Q2 | (1R,3R)-3-(2-METHYLIMIDAZO[4,5-D]PYRROLO[2,3-B]PYRIDIN- 1(8H)-YL)CYCLOHEXANOL | 4ei4 | A | F958 G962 | 0Q2 | (1R,3R)-3-(2-METHYLIMIDAZO[4,5-D]PYRROLO[2,3-B]PYRIDIN- 1(8H)-YL)CYCLOHEXANOL | 4ei4 | B | F958 G962 | C5I | 3-OXO-3-[(3R)-3-(PYRROLO[2,3-B][1,2,3]TRIAZOLO[4,5- D]PYRIDIN-1(6H)-YL)PIPERIDIN-1-YL]PROPANENITRILE | 4i5c | A | F958 G962 | 1J5 | TRANS-4-{2-[(1R)-1-HYDROXYETHYL]IMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDIN-1(6H)- YL}CYCLOHEXANECARBONITRILE | 4ivb | A | F958 G962 | 1J5 | TRANS-4-{2-[(1R)-1-HYDROXYETHYL]IMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDIN-1(6H)- YL}CYCLOHEXANECARBONITRILE | 4ivb | B | F958 G962 | 1J6 | (TRANS-4-{2-[(1R)-1-HYDROXYETHYL]IMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDIN-1(6H)-YL}CYCLOHEXYL) ACETONITRILE | 4ivc | A | F958 G962 | 1J6 | (TRANS-4-{2-[(1R)-1-HYDROXYETHYL]IMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDIN-1(6H)-YL}CYCLOHEXYL) ACETONITRILE | 4ivc | B | F958 G962 | 15T | 3-(TRANS-4-{2-[(1R)-1-HYDROXYETHYL]IMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDIN-1(6H)-YL}CYCLOHEXYL) PROPANENITRILE | 4ivd | A | F958 G962 | 15T | 3-(TRANS-4-{2-[(1R)-1-HYDROXYETHYL]IMIDAZO[4,5- D]PYRROLO[2,3-B]PYRIDIN-1(6H)-YL}CYCLOHEXYL) PROPANENITRILE | 4ivd | B | F958 G962 | 1Q3 | (1R,2S)-2-{[8-OXO-2-(1H-PYRAZOL-4-YL)-5,8- DIHYDROPYRIDO[3,4-D]PYRIMIDIN-4- YL]AMINO}CYCLOPENTANECARBONITRILE | 4k6z | A | F958 G962 | 5JG | 6-CHLORO-2-(2-FLUORO-4,5-DIMETHOXYPHENYL)-N-(PIPERIDIN- 4-YLMETHYL)-3H-IMIDAZO[4,5-B]PYRIDIN-7-AMINE | 5e1e | A | F958 G962 | 5JG | 6-CHLORO-2-(2-FLUORO-4,5-DIMETHOXYPHENYL)-N-(PIPERIDIN- 4-YLMETHYL)-3H-IMIDAZO[4,5-B]PYRIDIN-7-AMINE | 5e1e | B | F958 G962 | 0UJ | N-({1-[(1R,2R,4S)-BICYCLO[2.2.1]HEPT-2-YL]-1,6- DIHYDROIMIDAZO[4,5-D]PYRROLO[2,3-B]PYRIDIN-2- YL}METHYL)METHANESULFONAMIDE | 4fk6 | A | R879 F958 G962 | 0UJ | N-({1-[(1R,2R,4S)-BICYCLO[2.2.1]HEPT-2-YL]-1,6- DIHYDROIMIDAZO[4,5-D]PYRROLO[2,3-B]PYRIDIN-2- YL}METHYL)METHANESULFONAMIDE | 4fk6 | B | R879 F958 G962 |
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| Conservation information for LBS of JAK1 |
| Multiple alignments for P23458 in multiple species |
| LBS | AA sequence | # species | Species |
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