AutismKB 2.0

Annotation Detail for PDE6A


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Basic Information Top
Gene Symbol:PDE6A ( CGPR-A,PDEA,RP43 )
Gene Full Name: phosphodiesterase 6A, cGMP-specific, rod, alpha
Band: 5q32
Quick LinksEntrez ID:5145; OMIM: 180071; Uniprot ID:PDE6A_HUMAN; ENSEMBL ID: ENSG00000132915; HGNC ID: 8785
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylglycine (By similarity).
857Cysteine methyl ester (By similarity).
Location(AA) Modifications Resource
2N-acetylglycine (By similarity).Swiss-Prot 53.0
857S-farnesyl cysteine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
49Phosphotyrosine(INSR)HMM predict
49Phosphotyrosine(Syk)HMM predict
51Phosphoserine(CDC2)HMM predict
51Phosphoserine(ATM)HMM predict
51Phosphoserine(IKK)HMM predict
74Phosphothreonine(PKC)HMM predict
302Phosphotyrosine(Abl)HMM predict
307Phosphothreonine(CDC2)HMM predict
307Phosphothreonine(MAPK)HMM predict
307Phosphothreonine(CDK)HMM predict
316Phosphotyrosine(Syk)HMM predict
437Phosphotyrosine(EGFR)HMM predict
437Phosphotyrosine(INSR)HMM predict
437Phosphotyrosine(SRC)HMM predict
691Phosphotyrosine(INSR)HMM predict
847Phosphoserine(CDC2)HMM predict
847O-linkedHMM predict
853O-linkedHMM predict
856Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000440
  • Location:chr5 149220418-149304548
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 149310958 149311140 182 6501
Rb shRbSenescenceGSE19898 149308047 149308296 249 3623
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 149217087 149217847 760 2952
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 149229375 149229542 167 0
CTCF G2GSE9613 149231312 149231528 216 0
CTCF G2GSE9613 149244478 149244622 144 0
CTCF G2GSE9613 149292491 149292712 221 0
ER E2-MCF7GSE14664 149270987 149271024 37 0
ER E2-MCF7GSE14664 149284075 149284112 37 0
ER Fulvestrant-MCF7GSE14664 149270990 149271023 33 0
ER MCF7GSE19013 149237633 149238598 965 0
ER MCF7GSE19013 149263996 149264711 715 0
FOXA1 MCF7GSE15244 149230023 149230502 479 0
FOXA1 MCF7GSE15244 149297747 149299289 1542 0
Fos K562GSE19551 149250667 149250970 303 0
FoxA1 MCF7MACSdata 149230043 149230252 209 0
NFkBII GM12878GSE19485 149220268 149221271 1003 0
Nanog hESGSE18292 149237629 149238050 421 0
Oct1 H2O2-HelaGSE14283 149240170 149240199 29 0
Oct1 H2O2-HelaGSE14283 149255189 149255226 37 0
Oct1 H2O2-HelaGSE14283 149267022 149267048 26 0
Oct1 H2O2-HelaGSE14283 149270991 149271019 28 0
Oct1 HelaGSE14283 149240969 149241011 42 0
Oct1 HelaGSE14283 149251667 149251702 35 0
Oct1 HelaGSE14283 149255191 149255226 35 0
Oct1 HelaGSE14283 149270983 149271061 78 0
P300 T30-glioblastomaGSE21026 149297264 149299735 2471 0
RARA MCF7GSE15244 149297747 149299289 1542 0
Rb QuiescentGSE19898 149259004 149259134 130 0
Sox2 hESGSE18292 149237633 149238209 576 0
TFAP2C MCF7GSE21234 149246365 149246812 447 0
TFAP2C MCF7GSE21234 149282440 149282954 514 0
TFAP2C MCF7GSE21234 149298516 149299138 622 0
p63 keratinocytesGSE17611 149275059 149275982 923 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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