AutismKB 2.0

Annotation Detail for ARNTL


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Basic Information Top
Gene Symbol:ARNTL ( BMAL1,BMAL1c,JAP3,MGC47515,MOP3,PASD3,TIC,bHLHe5 )
Gene Full Name: aryl hydrocarbon receptor nuclear translocator-like
Band: 11p15.3
Quick LinksEntrez ID:406; OMIM: 602550; Uniprot ID:BMAL1_HUMAN; ENSEMBL ID: ENSG00000133794; HGNC ID: 701
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
538N6-acetyllysine (By similarity).
Location(AA) Modifications Resource
259Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO) (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
17Phosphoserine(IKK)HMM predict
42Phosphoserine(PKG)HMM predict
42Phosphoserine(PKC)HMM predict
46Phosphotyrosine(Syk)HMM predict
46SulfotyrosineHMM predict
52Phosphothreonine(CK2)HMM predict
181N-linkedHMM predict
183Phosphoserine(ATM)HMM predict
185N-linkedHMM predict
211Phosphoserine(CK1)HMM predict
211Phosphoserine(ATM)HMM predict
233Phosphothreonine(MAPK)HMM predict
287Phosphotyrosine(Jak)HMM predict
363Phosphotyrosine(Jak)HMM predict
395Phosphothreonine(PKC)HMM predict
459Phosphoserine(CDC2)HMM predict
459Phosphoserine(ATM)HMM predict
462Phosphoserine(IKK)HMM predict
513Phosphoserine(IKK)HMM predict
513Phosphoserine(PKB)HMM predict
515O-linkedHMM predict
515Phosphoserine(IKK)HMM predict
516Phosphoserine(IKK)HMM predict
519Phosphoserine(CK1)HMM predict
519Phosphoserine(IKK)HMM predict
520Phosphoserine(CDC2)HMM predict
523N-linkedHMM predict
525O-linkedHMM predict
526O-linkedHMM predict
527O-linkedHMM predict
534Phosphoserine(CDC2)HMM predict
534Phosphoserine(CDK)HMM predict
564SulfotyrosineHMM predict
567Phosphoserine(ATM)HMM predict
571Phosphoserine(CK1)HMM predict
592Phosphoserine(ATM)HMM predict
592Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001030272
  • Location:chr11 13255900-13365385
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 13238702 13240593 1891 16253
FOXA1 DLD1GSE12801 13249076 13249683 607 6521
FOXA1 MCF7GSE15244 13238418 13238750 332 17317
Fos K562GSE19551 13255331 13256042 711 214
H3K4me3 colorectalcancer 13254403 13255659 1256 870
Nanog hESGSE18292 13236706 13237118 412 18989
P300 T0-glioblastomaGSE21026 13239381 13240566 1185 15927
P300 T30-glioblastomaGSE21026 13238815 13240634 1819 16176
P300 T30-glioblastomaGSE21026 13254762 13256750 1988 145
PHF8 293TGSE20725 13254986 13255676 690 570
TFAP2C MCF7GSE21234 13255069 13255723 654 505
VDR GM10855-UnstimGSE22484 13254979 13256817 1838 3
VDR GM10861-UnstimGSE22484 13254928 13256777 1849 48
p130 QuiescentGSE19898 13255765 13255983 218 27
p130 shRbSenescentGSE19898 13255482 13255983 501 168
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 13313369 13313786 417 0
CTCF CD4GSE12889 13322345 13322621 276 0
CTCF CD4GSE12889 13362925 13363186 261 0
CTCF CD4SISSRdata 13313369 13313786 417 0
CTCF CD4SISSRdata 13322345 13322621 276 0
CTCF CD4SISSRdata 13362925 13363186 261 0
ER Fulvestrant-MCF7GSE14664 13267060 13267097 37 0
FOXA1 DLD1GSE12801 13265710 13266342 632 0
FOXA1 DLD1GSE12801 13311403 13311658 255 0
FOXA1 MCF7GSE15244 13265848 13266342 494 0
FOXA1 MCF7GSE15244 13266705 13267480 775 0
FOXA1 MCF7GSE15244 13318001 13318290 289 0
FOXA1 MCF7GSE15244 13321917 13322803 886 0
GATA3 MCF7GSE15244 13259978 13260235 257 0
H3K4me3 colorectalcancer 13257202 13257554 352 0
NFkBII GM12878GSE19485 13299115 13300493 1378 0
NRSF JurkatGSE13047 13266925 13267577 652 0
NRSF mAbJurkat 13266705 13267480 775 0
NRSF-mono JurkatQuESTdata 13267241 13267537 296 0
NRSF-poly JurkatQuESTdata 13267234 13267577 343 0
Oct1 H2O2-HelaGSE14283 13265372 13265404 32 0
Oct1 H2O2-HelaGSE14283 13298635 13298664 29 0
Oct1 HelaGSE14283 13265370 13265400 30 0
Oct1 HelaGSE14283 13267064 13267095 31 0
Oct1 HelaGSE14283 13298635 13298664 29 0
RARA MCF7GSE15244 13310911 13311060 149 0
RARG MCF7GSE15244 13310818 13311060 242 0
RARG MCF7GSE15244 13321323 13321502 179 0
RARG MCF7GSE15244 13339289 13339717 428 0
Rb shRbSenescenceGSE19898 13257254 13257390 136 0
TFAP2C MCF7GSE21234 13267136 13267572 436 0
TFAP2C MCF7GSE21234 13268359 13268677 318 0
TFAP2C MCF7GSE21234 13291173 13291712 539 0
TFAP2C MCF7GSE21234 13325846 13326419 573 0
VDR GM10855-stimGSE22484 13255019 13256905 1886 0
VDR GM10861-stimGSE22484 13254907 13257080 2173 0
hScc1 BcellGSE12603 13255600 13256414 814 0
hScc1 BcellGSE12603 13275038 13275383 345 0
hScc1 BcellGSE12603 13321917 13322831 914 0
hScc1 CdLSGSE12603 13255451 13256586 1135 0
hScc1 CdLSGSE12603 13321953 13322874 921 0
hScc1 CdLSGSE12603 13363098 13363321 223 0
hScc1 G2GSE9613 13321883 13322803 920 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-132 hsa-mir-132 17 17553428
hsa-miR-132* hsa-mir-132 17 17553428
hsa-miR-181d hsa-mir-181d 19 19478556
hsa-miR-191 hsa-mir-191 3 19478556
hsa-miR-191* hsa-mir-191 3 19478556
hsa-miR-194 hsa-mir-194-1 1 19682069
hsa-miR-194 hsa-mir-194-2 11 19682069
hsa-miR-219-1-3p hsa-mir-219-1 6 17553428
hsa-miR-219-2-3p hsa-mir-219-2 9 17553428
hsa-miR-219-5p hsa-mir-219-1 6 17553428
hsa-miR-219-5p hsa-mir-219-2 9 17553428
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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