AutismKB 2.0

Annotation Detail for PCDH19


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Basic Information Top
Gene Symbol:PCDH19 ( DKFZp686P1843,EFMR,KIAA1313 )
Gene Full Name: protocadherin 19
Band: Xq22.1
Quick LinksEntrez ID:57526; OMIM: 300460; Uniprot ID:PCD19_HUMAN; ENSEMBL ID: ENSG00000165194; HGNC ID: 14270
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
37Phosphothreonine.
261N-linked (GlcNAc...) (Potential).
420N-linked (GlcNAc...) (Potential).
485N-linked (GlcNAc...) (Potential).
546N-linked (GlcNAc...) (Potential).
570N-linked (GlcNAc...) (Potential).
676N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
261N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
420N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
485N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
546N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
570N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
676N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
27Phosphotyrosine(Jak)HMM predict
28Phosphoserine(CK2)HMM predict
143Phosphoserine(CDC2)HMM predict
154Phosphotyrosine(Syk)HMM predict
169Phosphothreonine(MAPK)HMM predict
231Phosphoserine(IKK)HMM predict
243Phosphotyrosine(SRC)HMM predict
255Phosphothreonine(MAPK)HMM predict
261N-linkedHMM predict
335Phosphoserine(IKK)HMM predict
359O-linkedHMM predict
378Phosphoserine(CK1)HMM predict
399Phosphotyrosine(EGFR)HMM predict
420N-linkedHMM predict
457Phosphotyrosine(Jak)HMM predict
458Phosphotyrosine(Jak)HMM predict
465N-linkedHMM predict
466N-linkedHMM predict
485N-linkedHMM predict
546N-linkedHMM predict
570N-linkedHMM predict
588Phosphothreonine(PKC)HMM predict
595Phosphotyrosine(INSR)HMM predict
636Phosphoserine(CK1)HMM predict
714N-linkedHMM predict
717N-linkedHMM predict
806Phosphoserine(CK1)HMM predict
809Phosphoserine(CK1)HMM predict
842N-linkedHMM predict
843Phosphothreonine(PKA)HMM predict
846N-linkedHMM predict
875N-linkedHMM predict
881N-linkedHMM predict
915Phosphothreonine(CK2)HMM predict
936N-linkedHMM predict
944Phosphoserine(ATM)HMM predict
1005Phosphotyrosine(Syk)HMM predict
1032Phosphothreonine(PKC)HMM predict
1045Phosphoserine(MAPK)HMM predict
1084O-linkedHMM predict
1097Phosphotyrosine(INSR)HMM predict
1137Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020766
  • Location:chrX 99433297-99548807
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 99548816 99548998 182 100
CTCF G2GSE9613 99549247 99550645 1398 1139
CTCF G2GSE9613 99551439 99552406 967 3115
CTCF G2GSE9613 99554645 99555175 530 6103
CTCF G2GSE9613 99559088 99559232 144 10353
CTCF G2GSE9613 99565761 99566046 285 17096
H3K27me3 colorectalcancer 99553295 99554918 1623 5299
Oct4 hESGSE17917 99566147 99566524 377 17528
hScc1 BcellGSE12603 99549066 99549514 448 483
hScc1 BcellGSE12603 99550131 99550583 452 1550
hScc1 BcellGSE12603 99554803 99555139 336 6164
hScc1 CdLSGSE12603 99550097 99550817 720 1650
hScc1 G2GSE9613 99549928 99550718 790 1516
hScc1 G2GSE9613 99551397 99553117 1720 3450
hScc1 G2GSE9613 99554401 99555211 810 5999
hScc1 G2GSE9613 99565724 99566010 286 17060
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 99520860 99521274 414 0
ER E2-MCF7GSE14664 99488114 99488150 36 0
ER Fulvestrant-MCF7GSE14664 99488113 99488150 37 0
ER Fulvestrant-MCF7GSE14664 99508832 99508868 36 0
H3K27me3 colorectalcancer 99547925 99548640 715 0
Nanog hESGSE18292 99536838 99537274 436 0
Oct1 H2O2-HelaGSE14283 99443202 99443230 28 0
Oct1 H2O2-HelaGSE14283 99446797 99446827 30 0
Oct1 H2O2-HelaGSE14283 99448479 99448514 35 0
Oct1 H2O2-HelaGSE14283 99467701 99467739 38 0
Oct1 H2O2-HelaGSE14283 99469864 99469899 35 0
Oct1 H2O2-HelaGSE14283 99475169 99475196 27 0
Oct1 H2O2-HelaGSE14283 99484825 99484862 37 0
Oct1 H2O2-HelaGSE14283 99541944 99541975 31 0
Oct1 H2O2-HelaGSE14283 99548731 99548766 35 0
Oct1 HelaGSE14283 99443202 99443230 28 0
Oct1 HelaGSE14283 99448481 99448514 33 0
Oct1 HelaGSE14283 99467701 99467743 42 0
Oct1 HelaGSE14283 99477296 99477332 36 0
Oct1 HelaGSE14283 99484825 99484862 37 0
Oct1 HelaGSE14283 99508828 99508868 40 0
Oct1 HelaGSE14283 99513084 99513114 30 0
Oct1 HelaGSE14283 99535348 99535378 30 0
Oct1 HelaGSE14283 99548732 99548766 34 0
RNAII Tamoxifen-MCF7GSE14664 99484826 99484868 42 0
hScc1 CdLSGSE12603 99505577 99505787 210 0
hScc1 G2GSE9613 99476027 99476370 343 0
hScc1 G2GSE9613 99520791 99521274 483 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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