Summary ?
GeneID3716
SymbolJAK1
SynonymsJAK1A|JAK1B|JTK3
DescriptionJanus kinase 1
ReferenceMIM:147795|HGNC:HGNC:6190|Ensembl:ENSG00000162434|HPRD:00992|Vega:OTTHUMG00000009310
Gene typeprotein-coding
Map location1p32.3-p31.3
Pascal p-value0.003
Fetal beta-0.986
DMG1 (# studies)
eGeneCerebellar Hemisphere
Cerebellum
Cortex
SupportCompositeSet
Darnell FMRP targets
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.02692 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0058 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg16618003165432492JAK11.57E-11-0.0122.86E-7DMG:Jaffe_2016


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
TSPAN90.880.50
FOXO10.840.54
IL28RA0.820.45
AP000911.10.820.37
C10orf410.820.42
SIX30.820.44
SERTAD40.820.43
RXRG0.810.48
ZNF5210.810.54
PBX30.810.50
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SLC26A4-0.29-0.28
EMX1-0.26-0.23
ID2-0.24-0.29
CIDEA-0.24-0.20
AF347015.31-0.24-0.15
GPR22-0.23-0.18
AF347015.21-0.23-0.15
AF347015.2-0.22-0.14
MT-CO2-0.22-0.15
AF347015.8-0.22-0.14

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0005515protein bindingIEA-
GO:0005524ATP bindingIEA-
GO:0004718Janus kinase activityIEA-
GO:0004715non-membrane spanning protein tyrosine kinase activityIEA-
GO:0016740transferase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007243protein kinase cascadeIEA-
GO:0007167enzyme linked receptor protein signaling pathwayIEA-
GO:0018108peptidyl-tyrosine phosphorylationIEA-
GO:0019221cytokine-mediated signaling pathwayIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0012505endomembrane systemIEA-
GO:0005856cytoskeletonIEA-
GO:0016020membraneIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ABL1ABL | JTK7 | bcr/abl | c-ABL | p150 | v-ablc-abl oncogene 1, receptor tyrosine kinaseReconstituted ComplexBioGRID9774693 
ABL1ABL | JTK7 | bcr/abl | c-ABL | p150 | v-ablc-abl oncogene 1, receptor tyrosine kinase-HPRD12130510 
ABL2ABLL | ARG | FLJ22224 | FLJ31718 | FLJ41441v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)Affinity Capture-WesternBioGRID9774693 
ARRB1ARB1 | ARR1arrestin, beta 1Affinity Capture-MSBioGRID17353931 
ATICAICAR | AICARFT | FLJ93545 | IMPCHASE | PURH5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolaseAffinity Capture-MSBioGRID17353931 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onset-HPRD,BioGRID11163768 
BTKAGMX1 | AT | ATK | BPK | IMD1 | MGC126261 | MGC126262 | PSCTK1 | XLABruton agammaglobulinemia tyrosine kinase-HPRD,BioGRID9178903 
CSF3RCD114 | GCSFRcolony stimulating factor 3 receptor (granulocyte)-HPRD,BioGRID7512720 
ELF3EPR-1 | ERT | ESE-1 | ESXE74-like factor 3 (ets domain transcription factor, epithelial-specific )Affinity Capture-MSBioGRID17353931 
ELP2FLJ10879 | SHINC-2 | STATIP1 | StIPelongation protein 2 homolog (S. cerevisiae)-HPRD,BioGRID10954736 
GHRGHBPgrowth hormone receptor-HPRD,BioGRID10502458 
GNB2L1Gnb2-rs1 | H12.3 | HLC-7 | PIG21 | RACK1guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1RACK-1 interacts with Jak1.BIND12960323 
GNB2L1Gnb2-rs1 | H12.3 | HLC-7 | PIG21 | RACK1guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1-HPRD,BioGRID12960323 
GRB2ASH | EGFRBP-GRB2 | Grb3-3 | MST084 | MSTP084growth factor receptor-bound protein 2-HPRD,BioGRID8536716 |11527382 
IFNAR2IFN-R | IFN-alpha-REC | IFNABR | IFNARBinterferon (alpha, beta and omega) receptor 2Reconstituted ComplexBioGRID12133952 
IFNAR2IFN-R | IFN-alpha-REC | IFNABR | IFNARBinterferon (alpha, beta and omega) receptor 2IFNR-beta-L interacts with Jak1.BIND12960323 
IFNGR1CD119 | FLJ45734 | IFNGRinterferon gamma receptor 1Reconstituted ComplexBioGRID12133952 
IGF1RCD221 | IGFIR | JTK13 | MGC142170 | MGC142172 | MGC18216insulin-like growth factor 1 receptorPhosphorylated IGF-1R-beta interacts with JAK-1.BIND9492017 
IGF1RCD221 | IGFIR | JTK13 | MGC142170 | MGC142172 | MGC18216insulin-like growth factor 1 receptor-HPRD,BioGRID9492017 
IL10RACDW210A | HIL-10R | IL-10R1 | IL10Rinterleukin 10 receptor, alpha-HPRD,BioGRID12133952 |12374810 
IL10RACDW210A | HIL-10R | IL-10R1 | IL10Rinterleukin 10 receptor, alphaIL-10R-alpha interacts with Jak1.BIND12133952 
IL21RMGC10967 | NILRinterleukin 21 receptorAffinity Capture-WesternBioGRID11016959 
IL27RACRL1 | IL27R | TCCR | WSX1 | zcytor1interleukin 27 receptor, alphaAffinity Capture-WesternBioGRID12734330 
IL2RBCD122 | P70-75interleukin 2 receptor, beta-HPRD,BioGRID7973659 |12133952 
IL2RBCD122 | P70-75interleukin 2 receptor, betaIL-2R-beta interacts with Jak1.BIND12133952 
IL4RCD124 | IL4RAinterleukin 4 receptor-HPRD,BioGRID12133952 
IL4RCD124 | IL4RAinterleukin 4 receptorJAK1 interacts with IL4R-alpha.BIND12133952 
IL5RACD125 | CDw125 | HSIL5R3 | IL5R | MGC26560interleukin 5 receptor, alpha-HPRD,BioGRID9516124 
IL6STCD130 | CDw130 | GP130 | GP130-RAPS | IL6R-betainterleukin 6 signal transducer (gp130, oncostatin M receptor)-HPRD,BioGRID11468294 |11742534 
IL9RCD129interleukin 9 receptor-HPRD,BioGRID8756628 
INSRCD220 | HHF5insulin receptorPhosphorylated IR-beta interacts with JAK-1.BIND9492017 
IRS1HIRS-1insulin receptor substrate 1Affinity Capture-Western
Biochemical Activity
BioGRID7499365 |9492017 
IRS2-insulin receptor substrate 2-HPRD,BioGRID7499365 
JAK3JAK-3 | JAK3_HUMAN | JAKL | L-JAK | LJAKJanus kinase 3 (a protein tyrosine kinase, leukocyte)-HPRD,BioGRID9553136 
JAKMIP1FLJ31564 | Gababrbp | JAMIP1 | MARLIN1janus kinase and microtubule interacting protein 1Jamip1 interacts with Jak1.BIND15277531 
MDKFLJ27379 | MK | NEGF2midkine (neurite growth-promoting factor 2)-HPRD9452495 
OSMRMGC150626 | MGC150627 | MGC75127 | OSMRBoncostatin M receptor-HPRD10586060 
PIK3R1GRB1 | p85 | p85-ALPHAphosphoinositide-3-kinase, regulatory subunit 1 (alpha)-HPRD,BioGRID9774657 
PLAURCD87 | UPAR | URKRplasminogen activator, urokinase receptor-HPRD,BioGRID9417082 
PRMT5HRMT1L5 | IBP72 | JBP1 | SKB1 | SKB1Hsprotein arginine methyltransferase 5-HPRD,BioGRID10531356 
PTK2BCADTK | CAKB | FADK2 | FAK2 | FRNK | PKB | PTK | PYK2 | RAFTKPTK2B protein tyrosine kinase 2 beta-HPRD,BioGRID10702271 
PTPN11BPTP3 | CFC | MGC14433 | NS1 | PTP-1D | PTP2C | SH-PTP2 | SH-PTP3 | SHP2protein tyrosine phosphatase, non-receptor type 11-HPRD,BioGRID8995399 |11036942 
|12403768 
PTPN6HCP | HCPH | HPTP1C | PTP-1C | SH-PTP1 | SHP-1 | SHP-1L | SHP1protein tyrosine phosphatase, non-receptor type 6Biochemical ActivityBioGRID7629131 
PTPRCB220 | CD45 | CD45R | GP180 | LCA | LY5 | T200protein tyrosine phosphatase, receptor type, C-HPRD11201744 
RAF1CRAF | NS5 | Raf-1 | c-Rafv-raf-1 murine leukemia viral oncogene homolog 1-HPRD,BioGRID9446616 
SHBRP11-3J10.8 | bA3J10.2Src homology 2 domain containing adaptor protein B-HPRD,BioGRID12200137 
SOCS1CIS1 | CISH1 | JAB | SOCS-1 | SSI-1 | SSI1 | TIP3suppressor of cytokine signaling 1-HPRD11133764 
STAM2DKFZp564C047 | Hbp | STAM2A | STAM2Bsignal transducing adaptor molecule (SH3 domain and ITAM motif) 2-HPRD,BioGRID10899310 |10993906 
STAT1DKFZp686B04100 | ISGF-3 | STAT91signal transducer and activator of transcription 1, 91kDa-HPRD11722592 
STAT3APRF | FLJ20882 | HIES | MGC16063signal transducer and activator of transcription 3 (acute-phase response factor)-HPRD,BioGRID11722592 
STAT5AMGF | STAT5signal transducer and activator of transcription 5A-HPRD11722592 
STAT5AMGF | STAT5signal transducer and activator of transcription 5AAffinity Capture-Western
Reconstituted Complex
Two-hybrid
BioGRID9047382 
STAT5BSTAT5signal transducer and activator of transcription 5BAffinity Capture-Western
Two-hybrid
BioGRID9047382 
SYKDKFZp313N1010 | FLJ25043 | FLJ37489spleen tyrosine kinase-HPRD10825200 
TECMGC126760 | MGC126762 | PSCTK4tec protein tyrosine kinase-HPRD,BioGRID9178903 
TNFRSF1ACD120a | FPF | MGC19588 | TBP1 | TNF-R | TNF-R-I | TNF-R55 | TNFAR | TNFR1 | TNFR55 | TNFR60 | p55 | p55-R | p60tumor necrosis factor receptor superfamily, member 1A-HPRD,BioGRID11801527 
TSHRCHNG1 | LGR3 | MGC75129 | hTSHR-Ithyroid stimulating hormone receptor-HPRD,BioGRID10809230 
TYK2JTK1tyrosine kinase 2-HPRD,BioGRID7589562 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG JAK STAT SIGNALING PATHWAY 155105All SZGR 2.0 genes in this pathway
KEGG LEISHMANIA INFECTION 7256All SZGR 2.0 genes in this pathway
KEGG PATHWAYS IN CANCER 328259All SZGR 2.0 genes in this pathway
KEGG PANCREATIC CANCER 7056All SZGR 2.0 genes in this pathway
BIOCARTA EGF PATHWAY 3125All SZGR 2.0 genes in this pathway
BIOCARTA IL2 PATHWAY 2216All SZGR 2.0 genes in this pathway
BIOCARTA IL4 PATHWAY 118All SZGR 2.0 genes in this pathway
BIOCARTA IL6 PATHWAY 2216All SZGR 2.0 genes in this pathway
BIOCARTA IL10 PATHWAY 1714All SZGR 2.0 genes in this pathway
BIOCARTA IL2RB PATHWAY 3826All SZGR 2.0 genes in this pathway
BIOCARTA IL22BP PATHWAY 1612All SZGR 2.0 genes in this pathway
BIOCARTA IL7 PATHWAY 1714All SZGR 2.0 genes in this pathway
BIOCARTA PDGF PATHWAY 3225All SZGR 2.0 genes in this pathway
ST INTERFERON GAMMA PATHWAY 107All SZGR 2.0 genes in this pathway
SIG IL4RECEPTOR IN B LYPHOCYTES 2723All SZGR 2.0 genes in this pathway
ST JAK STAT PATHWAY 98All SZGR 2.0 genes in this pathway
ST STAT3 PATHWAY 1110All SZGR 2.0 genes in this pathway
ST TYPE I INTERFERON PATHWAY 98All SZGR 2.0 genes in this pathway
ST INTERLEUKIN 4 PATHWAY 2618All SZGR 2.0 genes in this pathway
PID P73PATHWAY 7959All SZGR 2.0 genes in this pathway
PID IL4 2PATHWAY 6543All SZGR 2.0 genes in this pathway
PID IL27 PATHWAY 2620All SZGR 2.0 genes in this pathway
PID TCPTP PATHWAY 4333All SZGR 2.0 genes in this pathway
PID SHP2 PATHWAY 5846All SZGR 2.0 genes in this pathway
PID IL2 1PATHWAY 5543All SZGR 2.0 genes in this pathway
PID IL2 PI3K PATHWAY 3427All SZGR 2.0 genes in this pathway
PID IFNG PATHWAY 4034All SZGR 2.0 genes in this pathway
PID IL6 7 PATHWAY 4740All SZGR 2.0 genes in this pathway
PID PDGFRA PATHWAY 2218All SZGR 2.0 genes in this pathway
PID IL2 STAT5 PATHWAY 3023All SZGR 2.0 genes in this pathway
REACTOME IL 7 SIGNALING 119All SZGR 2.0 genes in this pathway
REACTOME ANTIVIRAL MECHANISM BY IFN STIMULATED GENES 6645All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY ILS 10786All SZGR 2.0 genes in this pathway
REACTOME IL 3 5 AND GM CSF SIGNALING 4334All SZGR 2.0 genes in this pathway
REACTOME IL RECEPTOR SHC SIGNALING 2721All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF IFNG SIGNALING 1410All SZGR 2.0 genes in this pathway
REACTOME INTERFERON GAMMA SIGNALING 6348All SZGR 2.0 genes in this pathway
REACTOME INTERFERON ALPHA BETA SIGNALING 6450All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF IFNA SIGNALING 2422All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING 159116All SZGR 2.0 genes in this pathway
REACTOME IL 2 SIGNALING 4134All SZGR 2.0 genes in this pathway
REACTOME IL 6 SIGNALING 119All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM 270204All SZGR 2.0 genes in this pathway
DAVICIONI TARGETS OF PAX FOXO1 FUSIONS UP 255177All SZGR 2.0 genes in this pathway
GRABARCZYK BCL11B TARGETS UP 8140All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 DN 242165All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 DN 281186All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP 501327All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800473All SZGR 2.0 genes in this pathway
SIMBULAN UV RESPONSE IMMORTALIZED DN 3126All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN 584395All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER LIT INT NETWORK 10173All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS UP 8451All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE UP 203130All SZGR 2.0 genes in this pathway
ZHANG TARGETS OF EWSR1 FLI1 FUSION 8868All SZGR 2.0 genes in this pathway
STAEGE EWING FAMILY TUMOR 3322All SZGR 2.0 genes in this pathway
THEILGAARD NEUTROPHIL AT SKIN WOUND DN 225163All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408274All SZGR 2.0 genes in this pathway
ZHENG RESPONSE TO ARSENITE DN 1815All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 DN 830547All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE UP 244165All SZGR 2.0 genes in this pathway
JI RESPONSE TO FSH DN 5843All SZGR 2.0 genes in this pathway
WELCSH BRCA1 TARGETS UP 198132All SZGR 2.0 genes in this pathway
XU GH1 AUTOCRINE TARGETS DN 14294All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953554All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP 783442All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528324All SZGR 2.0 genes in this pathway
HOWLIN CITED1 TARGETS 1 UP 3525All SZGR 2.0 genes in this pathway
HOWLIN CITED1 TARGETS 1 DN 3722All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER T7 9863All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER P3 160103All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491310All SZGR 2.0 genes in this pathway
ZHENG FOXP3 TARGETS IN T LYMPHOCYTE DN 3729All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS UP 602364All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP 601369All SZGR 2.0 genes in this pathway
OUYANG PROSTATE CANCER PROGRESSION UP 2014All SZGR 2.0 genes in this pathway
RIGGI EWING SARCOMA PROGENITOR UP 430288All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439257All SZGR 2.0 genes in this pathway
LINDSTEDT DENDRITIC CELL MATURATION C 6949All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO CSF2RB AND IL4 UP 338225All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF UP 418282All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF VS CSF2RB AND IL4 DN 245150All SZGR 2.0 genes in this pathway
JISON SICKLE CELL DISEASE DN 18197All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368247All SZGR 2.0 genes in this pathway
SAKAI CHRONIC HEPATITIS VS LIVER CANCER UP 8363All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE 721492All SZGR 2.0 genes in this pathway
BAE BRCA1 TARGETS DN 3227All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS UP 259159All SZGR 2.0 genes in this pathway
IVANOVSKA MIR106B TARGETS 9056All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570339All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway
PHONG TNF RESPONSE NOT VIA P38 337236All SZGR 2.0 genes in this pathway
PECE MAMMARY STEM CELL DN 14688All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-142-5p130313091Ahsa-miR-142-5pCAUAAAGUAGAAAGCACUAC
miR-17-5p/20/93.mr/106/519.d12891295m8hsa-miR-17-5pCAAAGUGCUUACAGUGCAGGUAGU
hsa-miR-20abrainUAAAGUGCUUAUAGUGCAGGUAG
hsa-miR-106aAAAAGUGCUUACAGUGCAGGUAGC
hsa-miR-106bSZUAAAGUGCUGACAGUGCAGAU
hsa-miR-20bSZCAAAGUGCUCAUAGUGCAGGUAG
hsa-miR-519dCAAAGUGCCUCCCUUUAGAGUGU
miR-44812851291m8hsa-miR-448UUGCAUAUGUAGGAUGUCCCAU