AutismKB 2.0

Annotation Detail for PHF6


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Basic Information Top
Gene Symbol:PHF6 ( BORJ,MGC14797 )
Gene Full Name: PHD finger protein 6
Band: Xq26.2
Quick LinksEntrez ID:84295; OMIM: 300414; Uniprot ID:PHF6_HUMAN; ENSEMBL ID: ENSG00000156531; HGNC ID: 18145
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
16Nuclear localization signal (Potential).
120Phosphoserine.
133Nuclear localization signal (Potential).
138Phosphoserine.
145Phosphoserine.
154Phosphoserine.
155Phosphoserine.
169Nucleolar localization signal
199Phosphoserine.
203Phosphoserine.
204Phosphoserine.
358Phosphothreonine.
Location(AA) Modifications Resource
199Phosphoserine.Swiss-Prot 53.0
203Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
12Phosphothreonine(PKC)HMM predict
57Phosphoserine(CK1)HMM predict
85S-palmitoylHMM predict
154Phosphoserine(CK1)HMM predict
155Phosphoserine(CDC2)HMM predict
155Phosphoserine(ATM)HMM predict
155Phosphoserine(MAPK)HMM predict
181Phosphoserine(CK1)HMM predict
182Phosphothreonine(PKA)HMM predict
183Phosphoserine(PKA)HMM predict
193Phosphoserine(CK1)HMM predict
195Phosphotyrosine(Syk)HMM predict
204Phosphoserine(CDC2)HMM predict
204Phosphoserine(IKK)HMM predict
253O-linkedHMM predict
328N-linkedHMM predict
332N-linkedHMM predict
344Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032335
  • Location:chrX 133335007-133376982
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 133334746 133335191 445 39
ETS1 JurkatGSE17954 133334425 133335237 812 177
Fos K562GSE19551 133334496 133335242 746 139
LIN9 SGSE7516 133334521 133335002 481 246
PHF8 293TGSE20725 133334206 133335660 1454 75
SRF GMOGSE8489 133330757 133332109 1352 3575
TFAP2C MCF7GSE21234 133327695 133328088 393 7116
hScc1 BcellGSE12603 133334709 133335075 366 116
p130 shRbSenescentGSE19898 133334733 133335121 388 81
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 133357971 133358194 223 0
CTCF CD4SISSRdata 133357971 133358194 223 0
CTCF G2GSE9613 133357900 133358149 249 0
H3ac HepG2E 133335371 133336581 1210 0
Oct1 H2O2-HelaGSE14283 133373407 133373434 27 0
Oct1 HelaGSE14283 133373407 133373434 27 0
Rb QuiescentGSE19898 133366579 133366709 130 0
hScc1 CdLSGSE12603 133357664 133358480 816 0
hScc1 G2GSE9613 133335039 133335334 295 0
hScc1 G2GSE9613 133357664 133358296 632 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