AutismKB 2.0

Annotation Detail for NFATC1


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Basic Information Top
Gene Symbol:NFATC1 ( MGC138448,NF-ATC,NFAT2,NFATc )
Gene Full Name: nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
Band: 18q23
Quick LinksEntrez ID:4772; OMIM: 600489; Uniprot ID:NFAC1_HUMAN; ENSEMBL ID: ENSG00000131196; HGNC ID: 7775
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
117Phosphoserine.
233Phosphoserine.
267Nuclear localization signal.
321Nuclear export signal.
684Nuclear localization signal.
933Nuclear export signal.
Location(AA) Modifications Resource
117Phosphoserine.Swiss-Prot 53.0
245Phosphoserine (PKA
269Phosphoserine (PKA
294Phosphoserine (PKA
Location(AA) Modification Resource
45Phosphotyrosine(SRC)HMM predict
53Phosphoserine(IKK)HMM predict
53Phosphoserine(CDK)HMM predict
63O-linkedHMM predict
148Phosphoserine(CDK)HMM predict
151Phosphoserine(CDC2)HMM predict
153O-linkedHMM predict
165Phosphotyrosine(INSR)HMM predict
165Phosphotyrosine(Syk)HMM predict
172Phosphoserine(IKK)HMM predict
172Phosphoserine(CDC2)HMM predict
184Phosphoserine(IKK)HMM predict
187Phosphoserine(CK1)HMM predict
189Phosphotyrosine(INSR)HMM predict
193Phosphotyrosine(INSR)HMM predict
197Phosphotyrosine(Syk)HMM predict
199Phosphoserine(CDC2)HMM predict
211Phosphoserine(CDC2)HMM predict
215Phosphothreonine(CK2)HMM predict
237Phosphoserine(CDC2)HMM predict
237O-linkedHMM predict
237Phosphoserine(IKK)HMM predict
239O-linkedHMM predict
241Phosphoserine(CDK)HMM predict
241Phosphoserine(CDC2)HMM predict
241PhosphoserineHMM predict
241Phosphoserine(MAPK)HMM predict
245Phosphoserine(PKG)HMM predict
261Phosphoserine(IKK)HMM predict
278Phosphoserine(ATM)HMM predict
278O-linkedHMM predict
282Phosphoserine(ATM)HMM predict
282O-linkedHMM predict
284Phosphothreonine(MAPK)HMM predict
284O-linkedHMM predict
286Phosphoserine(CDK)HMM predict
286Phosphoserine(CDC2)HMM predict
290O-linkedHMM predict
290PhosphoserineHMM predict
290Phosphoserine(CDC2)HMM predict
303N-linkedHMM predict
308O-linkedHMM predict
309O-linkedHMM predict
339Phosphothreonine(PKC)HMM predict
359Phosphoserine(ATM)HMM predict
359Phosphoserine(CDK)HMM predict
359Phosphoserine(IKK)HMM predict
373Phosphoserine(CDK)HMM predict
394Phosphotyrosine(SRC)HMM predict
403Phosphoserine(CDC2)HMM predict
403Phosphoserine(MAPK)HMM predict
407Phosphotyrosine(INSR)HMM predict
407Phosphotyrosine(SRC)HMM predict
409O-linkedHMM predict
466Phosphotyrosine(INSR)HMM predict
498Phosphothreonine(PKA)HMM predict
558Phosphothreonine(PKC)HMM predict
558Phosphothreonine(PKA)HMM predict
577Phosphoserine(PKA)HMM predict
686Phosphoserine(PKG)HMM predict
688Phosphotyrosine(EGFR)HMM predict
709Phosphotyrosine(Syk)HMM predict
709Phosphotyrosine(SRC)HMM predict
709SulfotyrosineHMM predict
723Phosphoserine(CDC2)HMM predict
731Phosphoserine(ATM)HMM predict
755O-linkedHMM predict
813O-linkedHMM predict
827Phosphoserine(IKK)HMM predict
831O-linkedHMM predict
841Phosphoserine(IKK)HMM predict
845Phosphoserine(IKK)HMM predict
846Phosphoserine(CDC2)HMM predict
848O-linkedHMM predict
848Phosphoserine(IKK)HMM predict
859O-linkedHMM predict
865O-linkedHMM predict
887Phosphoserine(PKB)HMM predict
887Phosphoserine(IKK)HMM predict
938Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172389
  • Location:chr18 75261313-75390309
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 75406807 75407120 313 16654
CTCF G2GSE9613 75408527 75408815 288 18362
hScc1 BcellGSE12603 75391904 75392292 388 1789
hScc1 BcellGSE12603 75393035 75393524 489 2970
hScc1 BcellGSE12603 75403877 75404293 416 13776
hScc1 BcellGSE12603 75405149 75405722 573 15126
hScc1 BcellGSE12603 75406305 75407120 815 16403
hScc1 BcellGSE12603 75408573 75409635 1062 18795
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 75372670 75374350 1680 0
CTCF CD4GSE12889 75389727 75390061 334 0
CTCF CD4SISSRdata 75389727 75390061 334 0
CTCF G2GSE9613 75340735 75341179 444 0
CTCF G2GSE9613 75347759 75348170 411 0
CTCF G2GSE9613 75365717 75366817 1100 0
CTCF G2GSE9613 75372744 75373188 444 0
CTCF G2GSE9613 75387982 75388395 413 0
ER MCF7GSE19013 75344666 75345303 637 0
Gata1 K562GSE18868 75367928 75368453 525 0
Gata2 K562GSE18868 75367867 75368663 796 0
Oct1 HelaGSE14283 75342926 75342997 71 0
Oct1 HelaGSE14283 75349828 75349857 29 0
Oct1 HelaGSE14283 75368339 75368378 39 0
Oct1 HelaGSE14283 75374823 75374858 35 0
Rb GrowingGSE19898 75389089 75389224 135 0
TAF HelaGSE8489 75381395 75381750 355 0
TFAP2C MCF7GSE21234 75342047 75342428 381 0
hScc1 BcellGSE12603 75330535 75330980 445 0
hScc1 BcellGSE12603 75333221 75334140 919 0
hScc1 BcellGSE12603 75337271 75337632 361 0
hScc1 BcellGSE12603 75339685 75340402 717 0
hScc1 BcellGSE12603 75340771 75341106 335 0
hScc1 BcellGSE12603 75346538 75348421 1883 0
hScc1 BcellGSE12603 75349363 75349609 246 0
hScc1 BcellGSE12603 75352354 75352673 319 0
hScc1 BcellGSE12603 75368255 75368623 368 0
hScc1 BcellGSE12603 75372879 75373840 961 0
hScc1 BcellGSE12603 75385614 75386627 1013 0
hScc1 BcellGSE12603 75389006 75390585 1579 0
hScc1 CdLSGSE12603 75389147 75390505 1358 0
p130 SenescentGSE19898 75346127 75346557 430 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-124 hsa-mir-124-1 8 18042700
hsa-miR-124 hsa-mir-124-2 8 18042700
hsa-miR-124 hsa-mir-124-3 20 18042700
hsa-miR-155 hsa-mir-155 21 20039311
hsa-miR-155* hsa-mir-155 21 20039311
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
12371 mRNA NFATC1 chr18 75256759 75390310 260 mRNA ORF1 chr18 75376785 75377045 Non-exonic Bidirectional (NOB) 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