JAK1 (Janus kinase 1) - Rat Genome Database
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Gene: JAK1 (Janus kinase 1) Homo sapiens
Analyze
Symbol: JAK1
Name: Janus kinase 1
RGD ID: 69102
HGNC Page HGNC
Description: Exhibits protein phosphatase binding activity; protein tyrosine kinase activity; and ubiquitin protein ligase binding activity. Involved in several processes, including interleukin-2-mediated signaling pathway; positive regulation of homotypic cell-cell adhesion; and positive regulation of sprouting angiogenesis. Localizes to cytoplasm and nucleus. Implicated in T-cell acute lymphoblastic leukemia; colorectal cancer; hepatocellular carcinoma; ovarian cancer; and pancreatic adenocarcinoma. Biomarker of pancreatic ductal adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIIDE; JAK-1; JAK1A; JAK1B; Janus kinase 1 (a protein tyrosine kinase); JTK3; tyrosine-protein kinase JAK1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 treatment.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl164,833,229 - 65,067,754 (-)EnsemblGRCh38hg38GRCh38
GRCh38164,833,229 - 65,067,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37165,298,912 - 65,533,429 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37165,298,906 - 65,432,593 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,071,494 - 65,204,775 (-)NCBINCBI36hg18NCBI36
Build 34165,012,228 - 65,064,007NCBI
Celera163,589,792 - 63,723,086 (-)NCBI
Cytogenetic Map1p31.3NCBI
HuRef163,407,815 - 63,541,120 (-)NCBIHuRef
CHM1_1165,415,253 - 65,649,730 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-mevalonic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-phenylprop-2-enal  (ISO)
4-hydroxyphenyl retinamide  (EXP)
4-vinylcyclohexene dioxide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amantadine  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
buspirone  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
capsaicin  (EXP)
carbon nanotube  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cyanidin cation  (ISO)
cyclosporin A  (EXP)
DDT  (EXP)
deoxynivalenol  (ISO)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
emodin  (EXP)
ethanol  (ISO)
Fidarestat  (EXP)
filipin III  (EXP)
gentamycin  (ISO)
hesperetin  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
isotretinoin  (EXP)
L-ethionine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
lipopolysaccharide  (EXP,ISO)
lycopene  (EXP)
menadione  (ISO)
mercury dichloride  (EXP)
methoxychlor  (ISO)
methyl beta-cyclodextrin  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
microcystin-LR  (ISO)
myricetin  (EXP,ISO)
N-acetyl-L-cysteine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nimesulide  (ISO)
nitric oxide  (ISO)
oleic acid  (EXP)
omeprazole  (ISO)
oridonin  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pipoxolan  (ISO)
pirinixic acid  (ISO)
ponatinib  (EXP)
potassium dichromate  (EXP)
propiconazole  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP)
rutin  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
T-2 toxin  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
tofacitinib  (EXP)
torcetrapib  (EXP)
trichostatin A  (EXP)
trimethyltin  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
verteporfin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
cytoskeleton  (IEA)
cytosol  (TAS)
endosome  (TAS)
focal adhesion  (HDA)
membrane  (IEA)
nucleus  (IDA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
1. Chen K, etal., Genet Test Mol Biomarkers. 2012 Oct;16(10):1206-10. doi: 10.1089/gtmb.2012.0141. Epub 2012 Aug 17.
2. Chen L, etal., Oncol Rep. 2018 Mar;39(3):1081-1089. doi: 10.3892/or.2018.6198. Epub 2018 Jan 8.
3. Chen P, etal., Int J Mol Med. 2011 May;27(5):731-8. doi: 10.3892/ijmm.2011.632. Epub 2011 Mar 1.
4. Chough C, etal., Bioorg Med Chem. 2018 May 1;26(8):1495-1510. doi: 10.1016/j.bmc.2018.01.021. Epub 2018 Feb 3.
5. GOA_HUMAN data from the GO Consortium
6. Jeong EG, etal., Clin Cancer Res. 2008 Jun 15;14(12):3716-21. doi: 10.1158/1078-0432.CCR-07-4839.
7. Jones SA, etal., J Clin Invest. 2011 Sep 1;121(9):3375-83. doi: 10.1172/JCI57158. Epub 2011 Sep 1.
8. Justicia C, etal., Glia. 2000 May;30(3):253-70. doi: 10.1002/(sici)1098-1136(200005)30:3<253::aid-glia5>3.0.co;2-o.
9. Kisseleva T, etal., Gene 2002 Feb 20;285(1-2):1-24.
10. Li H, etal., J Periodontal Res. 2017 Feb;52(1):1-7. doi: 10.1111/jre.12360. Epub 2016 Jan 30.
11. Li HR, etal., Parasitology. 2016 Oct;143(12):1629-38. doi: 10.1017/S0031182016001128. Epub 2016 Jul 21.
12. López-Rodríguez R, etal., PLoS One. 2017 Jul 12;12(7):e0180927. doi: 10.1371/journal.pone.0180927. eCollection 2017.
13. Murray PJ J Immunol. 2007 Mar 1;178(5):2623-9.
14. Pipeline to import KEGG annotations from KEGG into RGD
15. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. RGD automated import pipeline for gene-chemical interactions
18. Sabat R, etal., Cytokine Growth Factor Rev. 2010 Oct;21(5):331-44. doi: 10.1016/j.cytogfr.2010.09.002. Epub 2010 Nov 5.
19. Sveen A, etal., Genome Med. 2017 May 24;9(1):46. doi: 10.1186/s13073-017-0434-0.
20. Verma A, etal., Cancer Metastasis Rev 2003 Dec;22(4):423-34.
21. Wang Q, etal., J Steroid Biochem Mol Biol. 2013 May;135:43-50. doi: 10.1016/j.jsbmb.2013.01.008. Epub 2013 Jan 18.
22. Wen W, etal., Mol Cancer Ther. 2014 Dec;13(12):3037-48. doi: 10.1158/1535-7163.MCT-14-0077. Epub 2014 Oct 15.
23. Yang S, etal., Oncotarget. 2016 Feb 2;7(5):5461-9. doi: 10.18632/oncotarget.6684.
24. Yu DL, etal., Oncol Rep. 2017 Aug;38(2):1075-1082. doi: 10.3892/or.2017.5781. Epub 2017 Jul 3.
Additional References at PubMed
PMID:1213395   PMID:1373877   PMID:1386289   PMID:1581631   PMID:1848670   PMID:7499365   PMID:7510216   PMID:7512720   PMID:7543024   PMID:7589562   PMID:7615558   PMID:7629131  
PMID:7657660   PMID:7690989   PMID:7698020   PMID:7759950   PMID:7896447   PMID:7973658   PMID:7973659   PMID:8041779   PMID:8232552   PMID:8247543   PMID:8272872   PMID:8493579  
PMID:8536716   PMID:8612580   PMID:8626374   PMID:8647212   PMID:8657151   PMID:8700888   PMID:8702790   PMID:8756628   PMID:8995399   PMID:9020188   PMID:9047382   PMID:9133424  
PMID:9178903   PMID:9388212   PMID:9417082   PMID:9446616   PMID:9452495   PMID:9484840   PMID:9492017   PMID:9510175   PMID:9516124   PMID:9520455   PMID:9553136   PMID:9566874  
PMID:9590172   PMID:9597132   PMID:9632795   PMID:9651359   PMID:9774657   PMID:9774693   PMID:9794795   PMID:10037796   PMID:10373548   PMID:10433356   PMID:10502458   PMID:10531356  
PMID:10586060   PMID:10702271   PMID:10707961   PMID:10777583   PMID:10809230   PMID:10825200   PMID:10856136   PMID:10875931   PMID:10899310   PMID:10918587   PMID:10954736   PMID:10982844  
PMID:10993906   PMID:11016959   PMID:11036942   PMID:11133764   PMID:11160325   PMID:11162588   PMID:11163768   PMID:11201744   PMID:11294897   PMID:11350938   PMID:11418623   PMID:11468294  
PMID:11527382   PMID:11557047   PMID:11694501   PMID:11722592   PMID:11742534   PMID:11751854   PMID:11751884   PMID:11786531   PMID:11801527   PMID:11839738   PMID:11909529   PMID:11940572  
PMID:12089333   PMID:12130510   PMID:12133952   PMID:12163560   PMID:12200137   PMID:12207328   PMID:12223098   PMID:12242343   PMID:12244095   PMID:12270932   PMID:12374810   PMID:12403768  
PMID:12447867   PMID:12456798   PMID:12477932   PMID:12549820   PMID:12551917   PMID:12559972   PMID:12576423   PMID:12620806   PMID:12626508   PMID:12637327   PMID:12734330   PMID:12738762  
PMID:12775419   PMID:12777975   PMID:12817007   PMID:12960323   PMID:14551213   PMID:14674010   PMID:14978237   PMID:15063116   PMID:15194700   PMID:15277531   PMID:15284024   PMID:15322115  
PMID:15526032   PMID:15588985   PMID:15677447   PMID:15883164   PMID:15894543   PMID:15923602   PMID:15988755   PMID:15996891   PMID:16102578   PMID:16239216   PMID:16273093   PMID:16280321  
PMID:16474838   PMID:16710296   PMID:16767694   PMID:17158029   PMID:17290288   PMID:17353931   PMID:17433443   PMID:17560945   PMID:17641294   PMID:17686504   PMID:17703412   PMID:17951261  
PMID:17982039   PMID:18160671   PMID:18178840   PMID:18187620   PMID:18266209   PMID:18270328   PMID:18271526   PMID:18320073   PMID:18362173   PMID:18390202   PMID:18413761   PMID:18430728  
PMID:18566411   PMID:18787400   PMID:18787531   PMID:18789440   PMID:18948751   PMID:18976975   PMID:19017763   PMID:19139102   PMID:19167051   PMID:19176360   PMID:19180571   PMID:19239328  
PMID:19255588   PMID:19258923   PMID:19361440   PMID:19434718   PMID:19457567   PMID:19464057   PMID:19470474   PMID:19490893   PMID:19559055   PMID:19604093   PMID:19730683   PMID:19764985  
PMID:19802007   PMID:19887489   PMID:19900094   PMID:19913121   PMID:20052595   PMID:20065083   PMID:20072651   PMID:20103601   PMID:20128689   PMID:20139093   PMID:20167706   PMID:20237496  
PMID:20299512   PMID:20368117   PMID:20379614   PMID:20409569   PMID:20503287   PMID:20588308   PMID:20628086   PMID:20697856   PMID:20816854   PMID:20868368   PMID:20974963   PMID:20980339  
PMID:21048031   PMID:21051030   PMID:21151131   PMID:21160051   PMID:21216930   PMID:21220115   PMID:21277633   PMID:21325207   PMID:21420464   PMID:21423176   PMID:21439476   PMID:21537335  
PMID:21551237   PMID:21679692   PMID:21689637   PMID:21827323   PMID:21840487   PMID:21861134   PMID:21873635   PMID:21880637   PMID:21880948   PMID:21903422   PMID:21949722   PMID:21965659  
PMID:22084247   PMID:22226123   PMID:22301404   PMID:22368272   PMID:22406175   PMID:22427350   PMID:22542455   PMID:22558273   PMID:22661199   PMID:22684105   PMID:22748021   PMID:22798525  
PMID:22810586   PMID:22844427   PMID:22859983   PMID:22939624   PMID:23084401   PMID:23184937   PMID:23185365   PMID:23246001   PMID:23402259   PMID:23406773   PMID:23487038   PMID:23611997  
PMID:23674219   PMID:23703473   PMID:23762317   PMID:23768868   PMID:23818941   PMID:23860541   PMID:23885837   PMID:23920124   PMID:23941832   PMID:23990909   PMID:24048415   PMID:24073214  
PMID:24154688   PMID:24158701   PMID:24413661   PMID:24732911   PMID:24843152   PMID:24882218   PMID:24886089   PMID:24905060   PMID:25065853   PMID:25156366   PMID:25174872   PMID:25194337  
PMID:25586607   PMID:25589644   PMID:25818476   PMID:25837197   PMID:25852190   PMID:25921289   PMID:25931145   PMID:25959715   PMID:26005883   PMID:26027934   PMID:26119280   PMID:26130650  
PMID:26175413   PMID:26186194   PMID:26188635   PMID:26193702   PMID:26215634   PMID:26238487   PMID:26396258   PMID:26496610   PMID:26586478   PMID:26631746   PMID:26783077   PMID:26901336  
PMID:26937622   PMID:27007833   PMID:27049718   PMID:27053336   PMID:27132469   PMID:27133025   PMID:27198716   PMID:27213585   PMID:27261451   PMID:27304884   PMID:27342126   PMID:27350337  
PMID:27362806   PMID:27371847   PMID:27436342   PMID:27440725   PMID:27545878   PMID:27554814   PMID:27591049   PMID:27725180   PMID:27774581   PMID:27799566   PMID:27893714   PMID:27903500  
PMID:27998770   PMID:28008925   PMID:28031410   PMID:28039266   PMID:28111307   PMID:28240233   PMID:28298427   PMID:28334721   PMID:28356514   PMID:28410228   PMID:28514442   PMID:28537140  
PMID:28560434   PMID:28645562   PMID:28729401   PMID:28879797   PMID:29031523   PMID:29121062   PMID:29127481   PMID:29162613   PMID:29263442   PMID:29331416   PMID:29405201   PMID:29491746  
PMID:29507755   PMID:29508247   PMID:29530480   PMID:29540532   PMID:29581427   PMID:29637270   PMID:29674694   PMID:29844126   PMID:29961565   PMID:29991678   PMID:30021884   PMID:30333224  
PMID:30463015   PMID:30609030   PMID:30762338   PMID:31078730   PMID:31305264   PMID:31348981   PMID:31586073   PMID:31743606   PMID:31753913   PMID:31819176   PMID:31980649   PMID:32064884  
PMID:32096183   PMID:32345774   PMID:32513989   PMID:32532301   PMID:32636055  


Genomics

Comparative Map Data
JAK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl164,833,229 - 65,067,754 (-)EnsemblGRCh38hg38GRCh38
GRCh38164,833,229 - 65,067,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37165,298,912 - 65,533,429 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37165,298,906 - 65,432,593 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,071,494 - 65,204,775 (-)NCBINCBI36hg18NCBI36
Build 34165,012,228 - 65,064,007NCBI
Celera163,589,792 - 63,723,086 (-)NCBI
Cytogenetic Map1p31.3NCBI
HuRef163,407,815 - 63,541,120 (-)NCBIHuRef
CHM1_1165,415,253 - 65,649,730 (-)NCBICHM1_1
Jak1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394101,009,171 - 101,122,493 (-)NCBIGRCm39mm39
GRCm384101,151,974 - 101,265,282 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4101,152,367 - 101,265,282 (-)EnsemblGRCm38mm10GRCm38
MGSCv374100,824,579 - 100,937,887 (-)NCBIGRCm37mm9NCBIm37
MGSCv364100,650,964 - 100,763,165 (-)NCBImm8
Celera499,494,673 - 99,536,518 (-)NCBICelera
Cytogenetic Map4C6NCBI
cM Map446.19NCBI
Jak1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25115,780,248 - 115,888,841 (-)NCBI
Rnor_6.0 Ensembl5119,982,943 - 120,083,904 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05119,982,503 - 120,091,452 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05123,865,078 - 123,973,772 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45121,804,586 - 121,905,581 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15121,813,666 - 121,843,676 (-)NCBI
Celera5114,318,185 - 114,418,922 (-)NCBICelera
Cytogenetic Map5q33NCBI
Jak1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542325,524,075 - 25,580,604 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542325,501,989 - 25,581,826 (+)NCBIChiLan1.0ChiLan1.0
JAK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1165,972,568 - 66,025,070 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl165,973,904 - 66,024,991 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0164,083,562 - 64,315,909 (-)NCBIMhudiblu_PPA_v0panPan3
JAK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl545,251,653 - 45,408,571 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1545,251,653 - 45,408,571 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Jak1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366922,298,149 - 2,354,084 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JAK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6147,429,106 - 147,567,179 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16147,320,288 - 147,567,188 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26135,899,431 - 135,917,892 (-)NCBISscrofa10.2Sscrofa10.2susScr3
JAK1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12068,122,134 - 68,253,361 (+)NCBI
ChlSab1.1 Ensembl2068,122,173 - 68,252,042 (+)Ensembl
Jak1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474229,631,391 - 29,723,981 (+)NCBI

Position Markers
D1S2825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,326,418 - 65,326,703UniSTSGRCh37
GRCh37165,326,418 - 65,326,583UniSTSGRCh37
Build 36165,099,006 - 65,099,171RGDNCBI36
Celera163,617,305 - 63,617,590UniSTS
Celera163,617,305 - 63,617,470RGD
HuRef163,435,315 - 63,435,496UniSTS
HuRef163,435,315 - 63,435,616UniSTS
Marshfield Genetic Map198.21RGD
Marshfield Genetic Map198.21UniSTS
Genethon Genetic Map1100.9UniSTS
TNG Radiation Hybrid Map136901.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-74955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,298,636 - 65,298,764UniSTSGRCh37
Build 36165,071,224 - 65,071,352RGDNCBI36
Celera163,589,522 - 63,589,650RGD
Cytogenetic Map1p32.3-p31.3UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef163,407,545 - 63,407,673UniSTS
TNG Radiation Hybrid Map136888.0UniSTS
GeneMap99-GB4 RH Map1174.74UniSTS
AL033825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,359,425 - 65,359,532UniSTSGRCh37
Build 36165,132,013 - 65,132,120RGDNCBI36
Celera163,650,308 - 63,650,415RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,468,305 - 63,468,412UniSTS
AL034288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,414,287 - 65,414,420UniSTSGRCh37
Build 36165,186,875 - 65,187,008RGDNCBI36
Celera163,705,185 - 63,705,318RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,523,220 - 63,523,353UniSTS
RH123697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,344,499 - 65,344,782UniSTSGRCh37
Build 36165,117,087 - 65,117,370RGDNCBI36
Celera163,635,382 - 63,635,665RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,453,379 - 63,453,662UniSTS
TNG Radiation Hybrid Map136905.0UniSTS
SHGC-74942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,299,025 - 65,299,150UniSTSGRCh37
Build 36165,071,613 - 65,071,738RGDNCBI36
Celera163,589,911 - 63,590,036RGD
Cytogenetic Map1p32.3-p31.3UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef163,407,934 - 63,408,059UniSTS
TNG Radiation Hybrid Map136882.0UniSTS
GeneMap99-GB4 RH Map1174.11UniSTS
SHGC-74938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,300,129 - 65,300,278UniSTSGRCh37
Build 36165,072,717 - 65,072,866RGDNCBI36
Celera163,591,015 - 63,591,164RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,409,042 - 63,409,191UniSTS
TNG Radiation Hybrid Map136891.0UniSTS
GeneMap99-GB4 RH Map1173.9UniSTS
G22293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,299,585 - 65,299,709UniSTSGRCh37
Build 36165,072,173 - 65,072,297RGDNCBI36
Celera163,590,471 - 63,590,595RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,408,498 - 63,408,622UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR20Ahsa-miR-20a-3pMirecordsexternal_info{changed}NA20299512
MIR17hsa-miR-17-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20299512
MIR17hsa-miR-17-5pMirecordsexternal_info{changed}NA20299512

Predicted Target Of
Summary Value
Count of predictions:1876
Count of miRNA genes:1003
Interacting mature miRNAs:1202
Transcripts:ENST00000342505, ENST00000465376, ENST00000467764, ENST00000471473, ENST00000481702, ENST00000494904
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4
Medium 2432 2875 1694 596 1928 438 4350 2100 3497 412 1442 1605 171 1204 2788 4
Low 4 114 32 27 21 27 6 92 225 7 17 8 4 1 2 1
Below cutoff 2 2 1 1 11 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB219242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC002094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ628631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342505   ⟹   ENSP00000343204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,229 - 64,966,549 (-)Ensembl
RefSeq Acc Id: ENST00000465376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,834,469 - 64,848,125 (-)Ensembl
RefSeq Acc Id: ENST00000471473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,844,096 - 64,846,909 (-)Ensembl
RefSeq Acc Id: ENST00000481702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,839,496 - 64,841,258 (-)Ensembl
RefSeq Acc Id: ENST00000494904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,859,642 - 64,864,856 (-)Ensembl
RefSeq Acc Id: ENST00000671746   ⟹   ENSP00000500065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,250 - 64,966,549 (-)Ensembl
RefSeq Acc Id: ENST00000671929   ⟹   ENSP00000500485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,391 - 64,966,284 (-)Ensembl
RefSeq Acc Id: ENST00000671954   ⟹   ENSP00000500841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,293 - 65,067,731 (-)Ensembl
RefSeq Acc Id: ENST00000672099   ⟹   ENSP00000500328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,873,458 - 65,067,729 (-)Ensembl
RefSeq Acc Id: ENST00000672179   ⟹   ENSP00000500296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,313 - 64,966,919 (-)Ensembl
RefSeq Acc Id: ENST00000672247   ⟹   ENSP00000499884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,243 - 64,966,448 (-)Ensembl
RefSeq Acc Id: ENST00000672434   ⟹   ENSP00000499900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,245 - 65,067,732 (-)Ensembl
RefSeq Acc Id: ENST00000672574   ⟹   ENSP00000500714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,250 - 64,846,681 (-)Ensembl
RefSeq Acc Id: ENST00000672751   ⟹   ENSP00000500745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,864,928 - 65,067,754 (-)Ensembl
RefSeq Acc Id: ENST00000672903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,867,100 - 64,869,408 (-)Ensembl
RefSeq Acc Id: ENST00000673046   ⟹   ENSP00000500878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,243 - 64,966,370 (-)Ensembl
RefSeq Acc Id: ENST00000673220   ⟹   ENSP00000500422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,343 - 64,966,552 (-)Ensembl
RefSeq Acc Id: ENST00000673246   ⟹   ENSP00000499942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,254 - 64,873,496 (-)Ensembl
RefSeq Acc Id: ENST00000673254   ⟹   ENSP00000500476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,262 - 64,966,552 (-)Ensembl
RefSeq Acc Id: ENST00000673314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,833,262 - 64,966,361 (-)Ensembl
RefSeq Acc Id: ENST00000673502   ⟹   ENSP00000500011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,846,405 - 65,067,746 (-)Ensembl
RefSeq Acc Id: NM_001320923   ⟹   NP_001307852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,936 (-)NCBI
CHM1_1165,415,253 - 65,548,930 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321852   ⟹   NP_001308781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 65,067,746 (-)NCBI
CHM1_1165,415,253 - 65,649,730 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321853   ⟹   NP_001308782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 65,067,746 (-)NCBI
CHM1_1165,415,253 - 65,649,730 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321854   ⟹   NP_001308783
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 65,067,746 (-)NCBI
CHM1_1165,415,253 - 65,649,730 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321855   ⟹   NP_001308784
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,549 (-)NCBI
CHM1_1165,415,253 - 65,548,563 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321856   ⟹   NP_001308785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,936 (-)NCBI
CHM1_1165,415,253 - 65,548,930 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321857   ⟹   NP_001308786
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,549 (-)NCBI
CHM1_1165,415,253 - 65,548,563 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002227   ⟹   NP_002218
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,549 (-)NCBI
GRCh37165,298,906 - 65,432,593 (-)NCBI
Build 36165,071,494 - 65,204,775 (-)NCBI Archive
HuRef163,407,815 - 63,541,120 (-)ENTREZGENE
CHM1_1165,415,253 - 65,548,563 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002218   ⟸   NM_002227
- Peptide Label: isoform 1
- UniProtKB: P23458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308781   ⟸   NM_001321852
- Peptide Label: isoform 1
- UniProtKB: P23458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308783   ⟸   NM_001321854
- Peptide Label: isoform 1
- UniProtKB: P23458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308782   ⟸   NM_001321853
- Peptide Label: isoform 1
- UniProtKB: P23458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308785   ⟸   NM_001321856
- Peptide Label: isoform 1
- UniProtKB: P23458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307852   ⟸   NM_001320923
- Peptide Label: isoform 1
- UniProtKB: P23458 (UniProtKB/Swiss-Prot),   Q6P669 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308786   ⟸   NM_001321857
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001308784   ⟸   NM_001321855
- Peptide Label: isoform 1
- UniProtKB: P23458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000500878   ⟸   ENST00000673046
RefSeq Acc Id: ENSP00000500011   ⟸   ENST00000673502
RefSeq Acc Id: ENSP00000500476   ⟸   ENST00000673254
RefSeq Acc Id: ENSP00000499942   ⟸   ENST00000673246
RefSeq Acc Id: ENSP00000500422   ⟸   ENST00000673220
RefSeq Acc Id: ENSP00000343204   ⟸   ENST00000342505
RefSeq Acc Id: ENSP00000500841   ⟸   ENST00000671954
RefSeq Acc Id: ENSP00000500485   ⟸   ENST00000671929
RefSeq Acc Id: ENSP00000500065   ⟸   ENST00000671746
RefSeq Acc Id: ENSP00000499884   ⟸   ENST00000672247
RefSeq Acc Id: ENSP00000500296   ⟸   ENST00000672179
RefSeq Acc Id: ENSP00000500328   ⟸   ENST00000672099
RefSeq Acc Id: ENSP00000500745   ⟸   ENST00000672751
RefSeq Acc Id: ENSP00000500714   ⟸   ENST00000672574
RefSeq Acc Id: ENSP00000499900   ⟸   ENST00000672434
Protein Domains
FERM   Protein kinase   SH2

Promoters
RGD ID:6785814
Promoter ID:HG_KWN:3091
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000025788
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,102,391 - 65,102,891 (-)MPROMDB
RGD ID:6785812
Promoter ID:HG_KWN:3094
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002227,   UC009WAM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,204,444 - 65,204,944 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3 copy number gain See cases [RCV000051824] Chr1:61922650..66445757 [GRCh38]
Chr1:62388322..66911440 [GRCh37]
Chr1:62160910..66684028 [NCBI36]
Chr1:1p31.3
pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
NM_002227.4(JAK1):c.1516C>T (p.Arg506Cys) single nucleotide variant not specified [RCV000121230] Chr1:64855641 [GRCh38]
Chr1:65321324 [GRCh37]
Chr1:1p31.3
not provided
NM_002227.4(JAK1):c.1951G>A (p.Val651Met) single nucleotide variant not specified [RCV000121231] Chr1:64846685 [GRCh38]
Chr1:65312368 [GRCh37]
Chr1:1p31.3
not provided
NM_002227.4(JAK1):c.2234C>T (p.Thr745Met) single nucleotide variant not specified [RCV000121232] Chr1:64844771 [GRCh38]
Chr1:65310454 [GRCh37]
Chr1:1p31.3
not provided
NM_002227.4(JAK1):c.2498A>G (p.Asn833Ser) single nucleotide variant not specified [RCV000121233] Chr1:64841507 [GRCh38]
Chr1:65307190 [GRCh37]
Chr1:1p31.3
not provided
NM_002227.4(JAK1):c.2469C>T (p.Leu823=) single nucleotide variant not specified [RCV000121234] Chr1:64841536 [GRCh38]
Chr1:65307219 [GRCh37]
Chr1:1p31.3
not provided
NM_002227.4(JAK1):c.2749A>G (p.Asn917Asp) single nucleotide variant not specified [RCV000121235] Chr1:64839696 [GRCh38]
Chr1:65305379 [GRCh37]
Chr1:1p31.3
not provided
NM_002227.4(JAK1):c.3463T>C (p.Ter1155Gln) single nucleotide variant not specified [RCV000121236] Chr1:64834564 [GRCh38]
Chr1:65300247 [GRCh37]
Chr1:1p31.3
not provided
NM_002227.4(JAK1):c.184A>G (p.Ile62Val) single nucleotide variant not specified [RCV000121237] Chr1:64883298 [GRCh38]
Chr1:65348981 [GRCh37]
Chr1:1p31.3
not provided
NM_002227.4(JAK1):c.1078C>T (p.Arg360Trp) single nucleotide variant not specified [RCV000121238] Chr1:64864885 [GRCh38]
Chr1:65330568 [GRCh37]
Chr1:1p31.3
not provided
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 copy number loss See cases [RCV000133710] Chr1:59760856..71578052 [GRCh38]
Chr1:60226528..72043735 [GRCh37]
Chr1:59999116..71816323 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 copy number loss See cases [RCV000134142] Chr1:58819605..69107108 [GRCh38]
Chr1:59285277..69572791 [GRCh37]
Chr1:59057865..69345379 [NCBI36]
Chr1:1p32.1-31.2
pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3
pathogenic
GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1 copy number loss See cases [RCV000140906] Chr1:64944525..67592003 [GRCh38]
Chr1:65410208..68057686 [GRCh37]
Chr1:65182796..67830274 [NCBI36]
Chr1:1p31.3
likely pathogenic|uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3
likely pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 copy number gain See cases [RCV000142452] Chr1:64072618..75518432 [GRCh38]
Chr1:64538290..75984117 [GRCh37]
Chr1:64310878..75756705 [NCBI36]
Chr1:1p31.3-31.1
pathogenic
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) single nucleotide variant Autoinflammation, immune dysregulation, and eosinophilia [RCV001255134]|Inborn genetic diseases [RCV000210558]|Lymphoblastic leukemia, acute, with lymphomatous features [RCV000444628] Chr1:64846735 [GRCh38]
Chr1:65312418 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3 copy number gain See cases [RCV000446769] Chr1:61785602..67430956 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002227.4(JAK1):c.1937C>T (p.Ser646Phe) single nucleotide variant Lymphoblastic leukemia, acute, with lymphomatous features [RCV000418735] Chr1:64846699 [GRCh38]
Chr1:65312382 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) single nucleotide variant Acute myeloid leukemia [RCV000430797]|Leukemia, acute, ?X-linked [RCV000419919]|Lymphoblastic leukemia, acute, with lymphomatous features [RCV000440192]|Polycythemia vera [RCV000429980] Chr1:64846664 [GRCh38]
Chr1:65312347 [GRCh37]
Chr1:1p31.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3
pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1 copy number loss not provided [RCV000684581] Chr1:64848307..67436595 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3(chr1:65332710-65617480)x3 copy number gain not provided [RCV000684582] Chr1:65332710..65617480 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3 copy number gain not provided [RCV000684577] Chr1:62434799..71656180 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3 copy number gain not provided [RCV000684578] Chr1:62468555..65584629 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1 copy number loss not provided [RCV000684579] Chr1:62830524..65396403 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_002227.4(JAK1):c.647+7C>T single nucleotide variant not provided [RCV000883801] Chr1:64869304 [GRCh38]
Chr1:65334987 [GRCh37]
Chr1:1p31.3
benign
NM_002227.4(JAK1):c.360C>T (p.Asn120=) single nucleotide variant not provided [RCV000915332] Chr1:64873493 [GRCh38]
Chr1:65339176 [GRCh37]
Chr1:1p31.3
likely benign
NM_002227.4(JAK1):c.3108C>T (p.Thr1036=) single nucleotide variant not provided [RCV000967805] Chr1:64837964 [GRCh38]
Chr1:65303647 [GRCh37]
Chr1:1p31.3
benign
Single allele deletion Intellectual disability, severe [RCV000824954] Chr1:59922631..72058653 [GRCh37]
Chr1:1p32.1-31.1
pathogenic
NM_002227.4(JAK1):c.3378A>G (p.Gln1126=) single nucleotide variant not provided [RCV000916641] Chr1:64834649 [GRCh38]
Chr1:65300332 [GRCh37]
Chr1:1p31.3
benign
NM_002227.4(JAK1):c.3093T>C (p.Asp1031=) single nucleotide variant not provided [RCV000952850] Chr1:64837979 [GRCh38]
Chr1:65303662 [GRCh37]
Chr1:1p31.3
benign
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1 copy number loss Brain malformations and urinary tract defects [RCV001263218] Chr1:53675707..66644963 [GRCh37]
Chr1:1p32.3-31.3
pathogenic
NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile) single nucleotide variant Autoinflammation, immune dysregulation, and eosinophilia [RCV001255135] Chr1:64845520 [GRCh38]
Chr1:65311203 [GRCh37]
Chr1:1p31.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6190 AgrOrtholog
COSMIC JAK1 COSMIC
Ensembl Genes ENSG00000162434 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000343204 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000499884 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000499900 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000499942 UniProtKB/TrEMBL
  ENSP00000500011 UniProtKB/TrEMBL
  ENSP00000500065 UniProtKB/TrEMBL
  ENSP00000500296 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500328 UniProtKB/TrEMBL
  ENSP00000500422 UniProtKB/TrEMBL
  ENSP00000500476 UniProtKB/TrEMBL
  ENSP00000500485 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500714 UniProtKB/TrEMBL
  ENSP00000500745 UniProtKB/TrEMBL
  ENSP00000500841 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500878 UniProtKB/TrEMBL
Ensembl Transcript ENST00000342505 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000671746 UniProtKB/TrEMBL
  ENST00000671929 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000671954 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000672099 UniProtKB/TrEMBL
  ENST00000672179 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000672247 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000672434 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000672574 UniProtKB/TrEMBL
  ENST00000672751 UniProtKB/TrEMBL
  ENST00000673046 UniProtKB/TrEMBL
  ENST00000673220 UniProtKB/TrEMBL
  ENST00000673246 UniProtKB/TrEMBL
  ENST00000673254 UniProtKB/TrEMBL
  ENST00000673502 UniProtKB/TrEMBL
Gene3D-CATH 3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162434 GTEx
HGNC ID HGNC:6190 ENTREZGENE
Human Proteome Map JAK1 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_F2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Jak1_PHL_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_non-rcpt_Jak/Tyk2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_non-rcpt_Jak1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3716 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3716 ENTREZGENE
OMIM 147795 OMIM
  618999 OMIM
Pfam FERM_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_F2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Jak1_Phl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29988 PharmGKB
PIRSF TyrPK_Jak UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS JANUSKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JANUSKINASE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0N0M2_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH07_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH32_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH73_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHI1_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHK2_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHN8_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHW0_HUMAN UniProtKB/TrEMBL
  A0A5F9ZI01_HUMAN UniProtKB/TrEMBL
  A0A5F9ZI39_HUMAN UniProtKB/TrEMBL
  JAK1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q0VGA4_HUMAN UniProtKB/TrEMBL
  Q4LDX3_HUMAN UniProtKB/TrEMBL
  Q6P669 ENTREZGENE, UniProtKB/TrEMBL
  Q8IV82_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q59GQ2 UniProtKB/Swiss-Prot
  Q9UD26 UniProtKB/Swiss-Prot