AutismKB 2.0

Annotation Detail for NFAT5


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Basic Information Top
Gene Symbol:NFAT5 ( KIAA0827,NF-AT5,NFATL1,NFATZ,OREBP,TONEBP )
Gene Full Name: nuclear factor of activated T-cells 5, tonicity-responsive
Band: 16q22.1
Quick LinksEntrez ID:10725; OMIM: 604708; Uniprot ID:NFAT5_HUMAN; ENSEMBL ID: ENSG00000102908; HGNC ID: 7774
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
28Phosphotyrosine(SRC)HMM predict
44O-linkedHMM predict
44Phosphoserine(CAMK2)HMM predict
44Phosphoserine(IKK)HMM predict
44Phosphoserine(PKB)HMM predict
58O-linkedHMM predict
69O-linkedHMM predict
70Phosphoserine(CK1)HMM predict
70Phosphoserine(IKK)HMM predict
74O-linkedHMM predict
75O-linkedHMM predict
83Phosphoserine(IKK)HMM predict
86O-linkedHMM predict
87O-linkedHMM predict
87Phosphoserine(CDC2)HMM predict
91O-linkedHMM predict
95O-linkedHMM predict
110Phosphoserine(CK1)HMM predict
135Phosphothreonine(CDC2)HMM predict
135Phosphothreonine(MAPK)HMM predict
135Phosphothreonine(CDK)HMM predict
145Phosphoserine(CDC2)HMM predict
145Phosphoserine(MAPK)HMM predict
182N-linkedHMM predict
185N-linkedHMM predict
252N-linkedHMM predict
257N-linkedHMM predict
298Phosphothreonine(PKC)HMM predict
353N-linkedHMM predict
354Phosphothreonine(PKC)HMM predict
355Phosphothreonine(CDC2)HMM predict
377N-linkedHMM predict
409Phosphothreonine(PKA)HMM predict
409Phosphothreonine(PKC)HMM predict
431Phosphothreonine(MAPK)HMM predict
481N-linkedHMM predict
483Phosphoserine(CK2)HMM predict
486N-linkedHMM predict
542O-linkedHMM predict
561Phosphoserine(CDC2)HMM predict
608Phosphothreonine(MAPK)HMM predict
624O-linkedHMM predict
627Phosphoserine(IKK)HMM predict
644N-linkedHMM predict
648O-linkedHMM predict
649Phosphoserine(CDC2)HMM predict
649Phosphoserine(IKK)HMM predict
684Phosphoserine(ATM)HMM predict
764Phosphoserine(CDC2)HMM predict
764Phosphoserine(CDK)HMM predict
767Phosphoserine(IKK)HMM predict
769Phosphoserine(IKK)HMM predict
782Phosphoserine(IKK)HMM predict
787O-linkedHMM predict
789O-linkedHMM predict
789O-linkedHMM predict
847O-linkedHMM predict
848O-linkedHMM predict
867Phosphoserine(PKG)HMM predict
929Phosphoserine(CDK)HMM predict
943Phosphoserine(CK2)HMM predict
957Phosphoserine(CDC2)HMM predict
962O-linkedHMM predict
964N-linkedHMM predict
966O-linkedHMM predict
967O-linkedHMM predict
968O-linkedHMM predict
969O-linkedHMM predict
976Phosphothreonine(MAPK)HMM predict
980O-linkedHMM predict
987Phosphoserine(CK2)HMM predict
1036Phosphoserine(IKK)HMM predict
1067Phosphoserine(CK1)HMM predict
1067Phosphoserine(ATM)HMM predict
1067Phosphoserine(IKK)HMM predict
1085Phosphoserine(CK1)HMM predict
1085Phosphoserine(ATM)HMM predict
1095Phosphoserine(CDK)HMM predict
1105O-linkedHMM predict
1105Phosphoserine(CK1)HMM predict
1106O-linkedHMM predict
1109O-linkedHMM predict
1130Phosphoserine(ATM)HMM predict
1168Phosphoserine(CDC2)HMM predict
1168Phosphoserine(CDK)HMM predict
1174Phosphoserine(IKK)HMM predict
1197Phosphoserine(ATM)HMM predict
1234Phosphoserine(ATM)HMM predict
1237Phosphoserine(IKK)HMM predict
1245Phosphoserine(IKK)HMM predict
1247Phosphoserine(CK1)HMM predict
1247Phosphoserine(ATM)HMM predict
1281O-linkedHMM predict
1305N-linkedHMM predict
1329Phosphoserine(IKK)HMM predict
1331Phosphoserine(IKK)HMM predict
1347Phosphoserine(ATM)HMM predict
1364Phosphoserine(IKK)HMM predict
1367Phosphoserine(ATM)HMM predict
1367Phosphoserine(IKK)HMM predict
1377Phosphoserine(CDC2)HMM predict
1380Phosphoserine(MAPK)HMM predict
1382Phosphoserine(IKK)HMM predict
1387Phosphoserine(IKK)HMM predict
1412O-linkedHMM predict
1412O-linkedHMM predict
1413O-linkedHMM predict
1414O-linkedHMM predict
1414Phosphoserine(CDC2)HMM predict
1414Phosphoserine(CDK)HMM predict
1420O-linkedHMM predict
1436Phosphoserine(CDC2)HMM predict
1440Phosphoserine(ATM)HMM predict
1454N-linkedHMM predict
1456Phosphoserine(ATM)HMM predict
1474Phosphoserine(ATM)HMM predict
1488O-linkedHMM predict
1526AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006599
  • Location:chr16 68156497-68296053
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 68137140 68137459 319 19198
FoxA1 MCF7MACSdata 68137211 68137482 271 19151
H3ac HepG2E 68155191 68156272 1081 766
NFkBII GM10847GSE19485 68155074 68156468 1394 727
NFkBII GM12878GSE19485 68154970 68157875 2905 75
Oct1 H2O2-HelaGSE14283 68140743 68140774 31 15739
Oct1 H2O2-HelaGSE14283 68146735 68146768 33 9746
TAF k562GSE8489 68155547 68156902 1355 273
hScc1 CdLSGSE12603 68155191 68156128 937 838
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 68156863 68157817 954 0
PHF8 293TGSE20725 68156552 68157982 1430 0
hScc1 BcellGSE12603 68155479 68157586 2107 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-200b hsa-mir-200b 1 20852262
hsa-miR-200b* hsa-mir-200b 1 20852262
hsa-miR-211 hsa-mir-211 15 21109473
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
10168 mRNA NFAT5 chr16 68156497 68296054 480 EST chr16 68283731 68317962Sense/Antisense (SA) pairs

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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