AutismKB 2.0

Annotation Detail for JAG1


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Basic Information Top
Gene Symbol:JAG1 ( AGS,AHD,AWS,CD339,HJ1,JAGL1,MGC104644 )
Gene Full Name: jagged 1
Band: 20p12.2
Quick LinksEntrez ID:182; OMIM: 601920; Uniprot ID:JAG1_HUMAN; ENSEMBL ID: ENSG00000101384; HGNC ID: 6188
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
143N-linked (GlcNAc...) (Potential).
217N-linked (GlcNAc...) (Potential).
382N-linked (GlcNAc...) (Potential).
559N-linked (GlcNAc...) (Potential).
745N-linked (GlcNAc...) (Potential).
960N-linked (GlcNAc...) (Potential).
991N-linked (GlcNAc...) (Potential).
1045N-linked (GlcNAc...) (Potential).
1064N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
143N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
217N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
382N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
559N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
745N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
960N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
991N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1045N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1064N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
22S-palmitoylHMM predict
93O-linkedHMM predict
143N-linkedHMM predict
162N-linkedHMM predict
191Phosphotyrosine(Syk)HMM predict
217N-linkedHMM predict
239Phosphoserine(ATM)HMM predict
328Phosphotyrosine(Abl)HMM predict
382N-linkedHMM predict
479Phosphotyrosine(Abl)HMM predict
559N-linkedHMM predict
585N-linkedHMM predict
587Phosphothreonine(CDC2)HMM predict
607Phosphoserine(IKK)HMM predict
745N-linkedHMM predict
751N-linkedHMM predict
960N-linkedHMM predict
966N-linkedHMM predict
1064N-linkedHMM predict
1092S-palmitoylHMM predict
1107Phosphoserine(CAMK2)HMM predict
1110N-linkedHMM predict
1113N-linkedHMM predict
1114N-linkedHMM predict
1133Phosphothreonine(PKC)HMM predict
1187N-linkedHMM predict
1189Phosphothreonine(CDC2)HMM predict
1195N-linkedHMM predict
1198N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000214
  • Location:chr20 10566333-10602589
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 10603448 10603633 185 951
H3ac HepG2E 10603576 10604459 883 1428
hScc1 BcellGSE12603 10602723 10603861 1138 703
hScc1 CdLSGSE12603 10603008 10603861 853 845
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog ESGSE20650 10565781 10566813 1032 37
TFAP2C MCF7GSE21234 10563307 10563963 656 2699
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 10583000 10583870 870 0
FOXA1 eGFPGSE10845 10583000 10583870 870 0
H3ac HepG2E 10592535 10593249 714 0
H3ac HepG2E 10593721 10594719 998 0
H3ac HepG2E 10594955 10595800 845 0
H3ac HepG2E 10596029 10597868 1839 0
H3ac HepG2E 10598426 10601709 3283 0
Myc K562GSE19551 10576079 10576501 422 0
Myc K562GSE19551 10600080 10600490 410 0
Nanog hESGSE18292 10566093 10566631 538 0
TFAP2C MCF7GSE21234 10575893 10576591 698 0
TFAP2C MCF7GSE21234 10588242 10589331 1089 0
TFAP2C MCF7GSE21234 10600096 10600738 642 0
TFAP2C MCF7GSE21234 10600782 10601259 477 0
USF1 HepG2E 10598462 10600650 2188 0
hScc1 BcellGSE12603 10595365 10595856 491 0
hScc1 BcellGSE12603 10599243 10601511 2268 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7e hsa-let-7e 19 19398721
hsa-let-7e* hsa-let-7e 19 19398721
hsa-let-7g hsa-let-7g 3 21293479
hsa-let-7g* hsa-let-7g 3 21293479
hsa-miR-126 hsa-mir-126 9 21293479
hsa-miR-126* hsa-mir-126 9 21293479
hsa-miR-148a hsa-mir-148a 7 21205300
hsa-miR-148a* hsa-mir-148a 7 21205300
hsa-miR-148b hsa-mir-148b 12 21205300
hsa-miR-148b* hsa-mir-148b 12 21205300
hsa-miR-152 hsa-mir-152 17 21205300
hsa-miR-196a hsa-mir-196a-1 17 21293479
hsa-miR-196a hsa-mir-196a-2 12 21293479
hsa-miR-21 hsa-mir-21 17 19398721
hsa-miR-21* hsa-mir-21 17 19398721
hsa-miR-218 hsa-mir-218-1 4 19890957
hsa-miR-218 hsa-mir-218-2 5 19890957
hsa-miR-31 hsa-mir-31 9 21293479
hsa-miR-31* hsa-mir-31 9 21293479
hsa-miR-331-3p hsa-mir-331 12 20510161
hsa-miR-331-5p hsa-mir-331 12 20510161
hsa-miR-338-3p hsa-mir-338 17 21293479
hsa-miR-338-5p hsa-mir-338 17 21293479
hsa-miR-34a hsa-mir-34a 1 19398721
hsa-miR-34a* hsa-mir-34a 1 19398721
hsa-miR-372 hsa-mir-372 19 19937137
hsa-miR-7 hsa-mir-7-1 9 21293479
hsa-miR-7 hsa-mir-7-2 15 21293479
hsa-miR-7 hsa-mir-7-3 19 21293479
hsa-miR-98 hsa-mir-98 X 21293479
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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