AutismKB 2.0

Annotation Detail for JAK3


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Basic Information Top
Gene Symbol:JAK3 ( JAK-3,JAK3_HUMAN,JAKL,L-JAK,LJAK )
Gene Full Name: Janus kinase 3
Band: 19p13.11
Quick LinksEntrez ID:3718; OMIM: 600173; Uniprot ID:JAK3_HUMAN; ENSEMBL ID: ENSG00000105639; HGNC ID: 6193
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
8Phosphothreonine (By similarity).
783Phosphoserine.
785Phosphotyrosine.
980Phosphotyrosine; by autocatalysis.
981Phosphotyrosine; by autocatalysis.
1027Phosphoserine (By similarity).
1031Phosphoserine (By similarity).
Location(AA) Modifications Resource
785Phosphotyrosine.Swiss-Prot 53.0
785Phosphotyrosine (JAK3)Phospho.ELM 6.0
980Phosphotyrosine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
980Phosphotyrosine (JAK3)Phospho.ELM 6.0
981Phosphotyrosine (JAK3)Phospho.ELM 6.0
Location(AA) Modification Resource
147O-linkedHMM predict
216Phosphothreonine(PKC)HMM predict
319Phosphothreonine(PKC)HMM predict
433Phosphoserine(CDC2)HMM predict
435Phosphothreonine(PKA)HMM predict
474S-palmitoylHMM predict
475S-palmitoylHMM predict
493Phosphoserine(ATM)HMM predict
493Phosphoserine(IKK)HMM predict
498O-linkedHMM predict
498O-linkedHMM predict
509Phosphoserine(ATM)HMM predict
720O-linkedHMM predict
980Phosphotyrosine(Syk)HMM predict
980PhosphotyrosineHMM predict
980Phosphotyrosine(Jak)HMM predict
981Phosphotyrosine(Jak)HMM predict
981Phosphotyrosine(Syk)HMM predict
981Phosphotyrosine(Jak)HMM predict
1024S-palmitoylHMM predict
1029Phosphoserine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000215
  • Location:chr19 17797960-17819799
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 17817936 17818332 396 0
KLF4 hESGSE17917 17802349 17802582 233 0
KLF4 hESGSE17917 17813742 17814000 258 0
NFkBII GM12892GSE19485 17819068 17820327 1259 0
NFkBII GM15510GSE19485 17818989 17820448 1459 0
hScc1 BcellGSE12603 17813742 17814213 471 0
hScc1 BcellGSE12603 17819363 17819805 442 0
p130 SenescentGSE19898 17819525 17819894 369 0
p130 shRbSenescentGSE19898 17819587 17819998 411 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
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
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