AutismKB 2.0

Annotation Detail for PTCHD1


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Basic Information Top
Gene Symbol:PTCHD1 ( FLJ30296,MGC149798 )
Gene Full Name: patched domain containing 1
Band: Xp22.11
Quick LinksEntrez ID:139411; OMIM: NA; Uniprot ID:PTHD1_HUMAN; ENSEMBL ID: ENSG00000165186; HGNC ID: 26392
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
77N-linked (GlcNAc...) (Potential).
133N-linked (GlcNAc...) (Potential).
167N-linked (GlcNAc...) (Potential).
319N-linked (GlcNAc...) (Potential).
326N-linked (GlcNAc...) (Potential).
568N-linked (GlcNAc...) (Potential).
599N-linked (GlcNAc...) (Potential).
608N-linked (GlcNAc...) (Potential).
762N-linked (GlcNAc...) (Potential).
818N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
77N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
133N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
167N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
319N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
326N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
568N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
599N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
608N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
762N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
818N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
51Phosphoserine(CK1)HMM predict
77N-linkedHMM predict
89Phosphothreonine(MAPK)HMM predict
133N-linkedHMM predict
167N-linkedHMM predict
170N-linkedHMM predict
255Phosphoserine(CDC2)HMM predict
311O-linkedHMM predict
319N-linkedHMM predict
326N-linkedHMM predict
354PhosphothreonineHMM predict
403S-palmitoylHMM predict
404S-palmitoylHMM predict
430Phosphotyrosine(INSR)HMM predict
541SulfotyrosineHMM predict
552Phosphotyrosine(INSR)HMM predict
561Phosphotyrosine(INSR)HMM predict
561Phosphotyrosine(EGFR)HMM predict
568N-linkedHMM predict
608N-linkedHMM predict
662Phosphotyrosine(SRC)HMM predict
667Phosphothreonine(PKC)HMM predict
672Phosphoserine(CK2)HMM predict
672Phosphoserine(CAMK2)HMM predict
672Phosphoserine(PKG)HMM predict
672Phosphoserine(PKA)HMM predict
688Phosphotyrosine(Syk)HMM predict
762N-linkedHMM predict
767N-linkedHMM predict
818N-linkedHMM predict
874ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_173495
  • Location:chrX 23263015-23322339
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23246238 23246441 203 16676
CTCF CD4SISSRdata 23246238 23246441 203 16676
CTCF JurkatGSE12889 23246239 23246465 226 16664
CTCF G2GSE9613 23246086 23246381 295 16782
H3K27me3 colorectalcancer 23260376 23261152 776 2252
H3K27me3 colorectalcancer 23261681 23262049 368 1151
Myc hESGSE17917 23261565 23261804 239 1331
NRSF JurkatGSE13047 23255124 23255814 690 7547
NRSF mAbJurkat 23251482 23252466 984 11042
NRSF mAbJurkat 23253106 23257762 4656 7582
NRSF-mono JurkatQuESTdata 23255121 23255665 544 7623
NRSF-poly JurkatQuESTdata 23255114 23255660 546 7629
Oct4 hESGSE17917 23246281 23246439 158 16656
Rb GrowingGSE19898 23259493 23259656 163 3441
hScc1 BcellGSE12603 23246124 23246381 257 16763
hScc1 BcellGSE12603 23262070 23263689 1619 136
hScc1 CdLSGSE12603 23245901 23246381 480 16875
hScc1 G2GSE9613 23246050 23246381 331 16800
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 23263777 23264473 696 0
RARA MCF7GSE15244 23293910 23294124 214 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-181b hsa-mir-181b-1 1 20868653
hsa-miR-181b hsa-mir-181b-2 9 20868653
hsa-miR-486-3p hsa-mir-486 8 20868653
hsa-miR-486-5p hsa-mir-486 8 20868653
No data
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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