AutismKB 2.0

Annotation Detail for PJA2


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Basic Information Top
Gene Symbol:PJA2 ( KIAA0438,Neurodap1,RNF131 )
Gene Full Name: praja ring finger 2
Band: 5q21.3
Quick LinksEntrez ID:9867; OMIM: NA; Uniprot ID:PJA2_HUMAN; ENSEMBL ID: ENSG00000198961; HGNC ID: 17481
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine.
323Phosphoserine.
342Phosphoserine; by PKA.
380Phosphotyrosine.
381Phosphoserine.
385Phosphothreonine.
389Phosphothreonine; by PKA.
428Phosphoserine.
429Phosphoserine.
432Phosphoserine.
Location(AA) Modifications Resource
380Phosphotyrosine.Swiss-Prot 53.0
381Phosphoserine.Swiss-Prot 53.0
385Phosphothreonine.Swiss-Prot 53.0
428Phosphoserine.Swiss-Prot 53.0
429Phosphoserine.Swiss-Prot 53.0
432Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
63Phosphotyrosine(Syk)HMM predict
63Phosphotyrosine(INSR)HMM predict
75N-linkedHMM predict
80Phosphoserine(CDC2)HMM predict
80Phosphoserine(IKK)HMM predict
110N-linkedHMM predict
118Phosphoserine(IKK)HMM predict
140N-linkedHMM predict
146Phosphotyrosine(INSR)HMM predict
146Phosphotyrosine(Jak)HMM predict
146SulfotyrosineHMM predict
193Phosphotyrosine(EGFR)HMM predict
216Phosphoserine(CDC2)HMM predict
260Phosphoserine(IKK)HMM predict
260Phosphoserine(ATM)HMM predict
271N-linkedHMM predict
272N-linkedHMM predict
274Phosphoserine(CK1)HMM predict
279Phosphothreonine(PKC)HMM predict
308Phosphoserine(CK2)HMM predict
355Phosphoserine(ATM)HMM predict
385Phosphothreonine(PKC)HMM predict
428PhosphoserineHMM predict
428Phosphoserine(CK1)HMM predict
429Phosphoserine(CK2)HMM predict
432Phosphoserine(CK1)HMM predict
453Phosphoserine(CK2)HMM predict
454Phosphoserine(CK1)HMM predict
457Phosphoserine(IKK)HMM predict
476Phosphoserine(CK2)HMM predict
476Phosphoserine(ATM)HMM predict
476Phosphoserine(CK1)HMM predict
509N-linkedHMM predict
512Phosphoserine(CK1)HMM predict
513Phosphoserine(CK1)HMM predict
541Phosphoserine(CK2)HMM predict
541Phosphoserine(IKK)HMM predict
541Phosphoserine(CK1)HMM predict
541Phosphoserine(ATM)HMM predict
543Phosphoserine(CK2)HMM predict
637S-palmitoylHMM predict
638S-palmitoylHMM predict
652S-palmitoylHMM predict
691Phosphoserine(IKK)HMM predict
691O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014819
  • Location:chr5 108698318-108773468
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 108776140 108776173 33 2688
FOXA1 MCF7GSE15244 108773851 108774614 763 764
Fos K562GSE19551 108773372 108774558 1186 497
Fos K562GSE19551 108791163 108791771 608 17999
H3K4me2 HCT116GSE10453 108774018 108775021 1003 1051
H3ac HepG2E 108773888 108774740 852 846
Myc K562GSE19551 108791363 108791545 182 17986
Oct1 HelaGSE14283 108776105 108776177 72 2673
Rb QuiescentGSE19898 108773866 108774292 426 611
Rb SenescentGSE19898 108773617 108774192 575 436
TFAP2C MCF7GSE21234 108773604 108774682 1078 675
p130 QuiescentGSE19898 108773880 108774853 973 898
p130 shRbQuiescentGSE19898 108773636 108774648 1012 674
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 108686367 108686803 436 11734
CTCF G2GSE9613 108688131 108688276 145 10115
Myc hESGSE17917 108688683 108688931 248 9512
Oct1 H2O2-HelaGSE14283 108689969 108689996 27 8336
Oct1 H2O2-HelaGSE14283 108695172 108695207 35 3129
Oct1 HelaGSE14283 108689959 108689997 38 8341
Oct1 HelaGSE14283 108691124 108691172 48 7171
Oct1 HelaGSE14283 108695172 108695206 34 3130
Oct1 HelaGSE14283 108695585 108695613 28 2720
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 108772958 108773460 502 0
ER Fulvestrant-MCF7GSE14664 108719460 108719498 38 0
H3K4me3 colorectalcancer 108772308 108773050 742 0
H3ac HepG2E 108771852 108773154 1302 0
Oct1 H2O2-HelaGSE14283 108705381 108705411 30 0
Oct1 HelaGSE14283 108701018 108701049 31 0
Oct1 HelaGSE14283 108705369 108705415 46 0
Oct4 hESGSE17917 108763998 108764312 314 0
RNAII Tamoxifen-MCF7GSE14664 108757438 108757521 83 0
TAF HelaGSE8489 108771852 108773015 1163 0
TAF k562GSE8489 108771852 108773231 1379 0
Validated miRNA targets Top
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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