AutismKB 2.0

Annotation Detail for PTCHD3


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Basic Information Top
Gene Symbol:PTCHD3 ( FLJ44037,MGC129888,PTR )
Gene Full Name: patched domain containing 3
Band: 10p12.1
Quick LinksEntrez ID:374308; OMIM: 611791; Uniprot ID:PTHD3_HUMAN; ENSEMBL ID: ENSG00000182077; HGNC ID: 24776
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
275N-linked (GlcNAc...) (Potential).
279N-linked (GlcNAc...) (Potential).
678N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001034842
  • Location:chr10 27727205-27743226
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 27712652 27713264 612 14248
FoxA1 MCF7MACSdata 27712741 27713098 357 14286
Nanog hESGSE18292 27718404 27718671 267 8668
Oct1 H2O2-HelaGSE14283 27707257 27707299 42 19928
Oct1 HelaGSE14283 27707245 27707299 54 19934
P300 T30-glioblastomaGSE21026 27712677 27713202 525 14266
No data
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