AutismKB 2.0

Annotation Detail for PTCD1


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Basic Information Top
Gene Symbol:PTCD1 ( KIAA0632 )
Gene Full Name: pentatricopeptide repeat domain 1
Band: 7q22.1
Quick LinksEntrez ID:26024; OMIM: NA; Uniprot ID:PTCD1_HUMAN; ENSEMBL ID: ENSG00000106246; HGNC ID: 22198
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
47O-linkedHMM predict
51Phosphoserine(ATM)HMM predict
68Phosphoserine(ATM)HMM predict
74N-linkedHMM predict
175N-linkedHMM predict
393Phosphoserine(ATM)HMM predict
423O-linkedHMM predict
444Phosphothreonine(MAPK)HMM predict
459O-linkedHMM predict
501Phosphoserine(CDC2)HMM predict
531Phosphoserine(PKG)HMM predict
581Phosphoserine(PKG)HMM predict
602N-linkedHMM predict
647Phosphotyrosine(EGFR)HMM predict
670Phosphothreonine(MAPK)HMM predict
687Phosphothreonine(CK2)HMM predict
700ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015545
  • Location:chr7 98854689-98874354
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 98874010 98874968 958 135
P300 T0-glioblastomaGSE21026 98873858 98874878 1020 14
PHF8 HeLaGSE20725 98873620 98875226 1606 69
p130 QuiescentGSE19898 98874222 98874543 321 28
p130 SenescentGSE19898 98874238 98874508 270 19
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 98855870 98856188 318 0
CTCF G2GSE9613 98857842 98858019 177 0
CTCF G2GSE9613 98859580 98859911 331 0
CTCF G2GSE9613 98860384 98860657 273 0
CTCF G2GSE9613 98861044 98861189 145 0
CTCF G2GSE9613 98874020 98874673 653 0
Oct1 HelaGSE14283 98860047 98860125 78 0
TFAP2C MCF7GSE21234 98867716 98868253 537 0
hScc1 BcellGSE12603 98860280 98861189 909 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
24365 mRNA G10 chr7 98651262 98661889 225 mRNA PTCD1 chr7 98661395 98681070Sense/Antisense (SA) pairs

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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