AutismKB 2.0

Annotation Detail for JAK1


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Basic Information Top
Gene Symbol:JAK1 ( JAK1A,JAK1B,JTK3 )
Gene Full Name: Janus kinase 1
Band: 1p31.3
Quick LinksEntrez ID:3716; OMIM: 147795; Uniprot ID:JAK1_HUMAN; ENSEMBL ID: ENSG00000162434; HGNC ID: 6190
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
3Phosphotyrosine.
224Phosphothreonine.
228Phosphoserine.
574Phosphoserine.
1034Phosphotyrosine; by autocatalysis (By
1035Phosphotyrosine.
Location(AA) Modifications Resource
208PhosphotyrosinePhospho.ELM 6.0
1022Phosphotyrosine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
1022Phosphotyrosine (JAK3)Phospho.ELM 6.0
1023Phosphotyrosine (JAK3)Phospho.ELM 6.0
Location(AA) Modification Resource
10Phosphoserine(PKG)HMM predict
43Phosphotyrosine(INSR)HMM predict
80N-linkedHMM predict
118Phosphoserine(CDC2)HMM predict
126Phosphotyrosine(Jak)HMM predict
241N-linkedHMM predict
353N-linkedHMM predict
385Phosphoserine(CK2)HMM predict
446Phosphoserine(IKK)HMM predict
503Phosphoserine(IKK)HMM predict
531S-palmitoylHMM predict
532S-palmitoylHMM predict
676Phosphothreonine(CDC2)HMM predict
766Phosphoserine(IKK)HMM predict
770O-linkedHMM predict
802Phosphothreonine(PKA)HMM predict
987Phosphotyrosine(Jak)HMM predict
1022Phosphotyrosine(Syk)HMM predict
1022Phosphotyrosine(Jak)HMM predict
1022PhosphotyrosineHMM predict
1023Phosphotyrosine(Jak)HMM predict
1023Phosphotyrosine(Jak)HMM predict
1023Phosphotyrosine(Syk)HMM predict
1024Phosphothreonine(Jak)HMM predict
1088Phosphothreonine(PKC)HMM predict
1113PhosphotyrosineHMM predict
1113Phosphotyrosine(Syk)HMM predict
1113Phosphotyrosine(SRC)HMM predict
1126N-linkedHMM predict
1129Phosphoserine(PKA)HMM predict
1132N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002227
  • Location:chr1 65071494-65204774
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 65204547 65205017 470 8
CTCF G2GSE9613 65206181 65206432 251 1532
ER MCF7GSE19013 65221351 65222128 777 16965
FOXA1 MCF7GSE15244 65221183 65221840 657 16737
NRSF mAbJurkat 65205123 65206746 1623 1160
Nanog hESGSE18292 65219959 65220185 226 15298
RARA MCF7GSE15244 65207789 65208080 291 3160
RARA MCF7GSE15244 65219977 65220554 577 15491
RARA MCF7GSE15244 65221084 65222203 1119 16869
RARG MCF7GSE15244 65221084 65221862 778 16699
TFAP2C MCF7GSE21234 65219465 65220006 541 14961
TFAP2C MCF7GSE21234 65221330 65221870 540 16826
hScc1 BcellGSE12603 65204590 65205089 499 65
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 65135838 65137226 1388 0
ER E2-MCF7GSE14664 65114873 65114912 39 0
FOXA1 MCF7GSE15244 65136548 65137013 465 0
FoxA1 MCF7MACSdata 65136519 65136758 239 0
FoxA1 MCF7MACSdata 65144868 65145217 349 0
FoxA1 MCF7MACSdata 65154126 65154464 338 0
FoxA1 MCF7MACSdata 65186589 65186888 299 0
H3K4me3 colorectalcancer 65203260 65204195 935 0
Oct1 H2O2-HelaGSE14283 65101309 65101339 30 0
Oct1 H2O2-HelaGSE14283 65118395 65118430 35 0
Oct1 H2O2-HelaGSE14283 65125937 65125964 27 0
Oct1 HelaGSE14283 65101309 65101340 31 0
Oct1 HelaGSE14283 65114873 65114905 32 0
Oct1 HelaGSE14283 65118395 65118431 36 0
Oct1 HelaGSE14283 65195986 65196018 32 0
P300 T30-glioblastomaGSE21026 65135813 65137284 1471 0
P300 T30-glioblastomaGSE21026 65153899 65154813 914 0
PHF8 293TGSE20725 65203739 65205342 1603 0
PHF8 HeLaGSE20725 65204094 65205259 1165 0
PHF8 Hs68plusFBSGSE20725 65203353 65205254 1901 0
RARA MCF7GSE15244 65136235 65137196 961 0
RARG MCF7GSE15244 65101281 65101741 460 0
RARG MCF7GSE15244 65136369 65137155 786 0
TAF k562GSE8489 65102323 65103262 939 0
TAF k562GSE8489 65104909 65105937 1028 0
TAF k562GSE8489 65151623 65151786 163 0
TFAP2C MCF7GSE21234 65099886 65100339 453 0
TFAP2C MCF7GSE21234 65153998 65154520 522 0
TFAP2C MCF7GSE21234 65186473 65186886 413 0
hScc1 BcellGSE12603 65084279 65084690 411 0
hScc1 BcellGSE12603 65088308 65088610 302 0
hScc1 BcellGSE12603 65088852 65089163 311 0
hScc1 BcellGSE12603 65112835 65113494 659 0
hScc1 BcellGSE12603 65133080 65133421 341 0
hScc1 BcellGSE12603 65162797 65162980 183 0
hScc1 BcellGSE12603 65203588 65203935 347 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-155 hsa-mir-155 21 20354188
hsa-miR-155* hsa-mir-155 21 20354188
hsa-miR-221 hsa-mir-221 X 19464057
hsa-miR-221* hsa-mir-221 X 19464057
hsa-miR-222 hsa-mir-222 X 19464057
hsa-miR-222* hsa-mir-222 X 19464057
hsa-miR-34b hsa-mir-34b 11 19258499
hsa-miR-34b* hsa-mir-34b 11 19258499
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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