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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body2 / 7076128
blastocyst5 / 6231980
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult69 / 193912135
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor30 / 263845113
glioma1 / 1068839
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma6 / 7175583
non-neoplasia3 / 9725030
normal104 / 336030730
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder2 / 2975767
blood5 / 12347840
bone1 / 7165513
bone marrow4 / 4880181
brain48 / 110098943
cervix4 / 4817183
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine8 / 23447234
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung8 / 33697423
lymph2 / 4427045
lymph node5 / 9161054
mammary gland7 / 15327145
mouth10 / 67052149
muscle3 / 10771527
nerve1 / 1576863
ovary8 / 10205178
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate7 / 18934536
salivary gland0 / 201550 
skin3 / 21057414
spleen3 / 5395255
stomach1 / 9661910
testis45 / 330442136
thymus8 / 8113198
thyroid0 / 474730 
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord3 / 13680219
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218956_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts54.55
Adipocyte36.65
AdrenalCortex31.7
Adrenalgland27.95
Amygdala31.9
Appendix30.4
AtrioventricularNode23.15
BDCA4+_DentriticCells47.9
Bonemarrow30.35
BronchialEpithelialCells26.1
CD105+_Endothelial48.55
CD14+_Monocytes38.6
CD19+_BCells(neg._sel.)32.7
CD33+_Myeloid37.5
CD34+37.85
CD4+_Tcells39.6
CD56+_NKCells35.4
CD71+_EarlyErythroid24.75
CD8+_Tcells29.9
CardiacMyocytes36.95
Caudatenucleus27.25
Cerebellum26.05
CerebellumPeduncles34.4
CiliaryGanglion21.9
CingulateCortex33.15
Colorectaladenocarcinoma34.7
DorsalRootGanglion23.05
FetalThyroid35.45
Fetalbrain28.15
Fetalliver26
Fetallung23.4
GlobusPallidus21.8
Heart44.3
Hypothalamus29.7
Kidney24.7
Leukemia_chronicMyelogenousK-56238.4
Leukemia_promyelocytic-HL-6026.8
Leukemialymphoblastic(MOLT-4)27.25
Liver50.95
Lung39.55
Lymphnode26.25
Lymphoma_burkitts(Daudi)39.4
Lymphoma_burkitts(Raji)43.1
MedullaOblongata27.1
OccipitalLobe28.1
OlfactoryBulb23.6
Ovary19.85
Pancreas25.95
PancreaticIslet31.45
ParietalLobe32
Pituitary36.7
Placenta31.6
Pons28.9
PrefrontalCortex35.2
Prostate36.1
Salivarygland26
SkeletalMuscle48.7
Skin21.45
SmoothMuscle33.25
Spinalcord32.2
SubthalamicNucleus27.35
SuperiorCervicalGanglion34.05
TemporalLobe31.05
Testis42.85
TestisGermCell30.1
TestisIntersitial24.65
TestisLeydigCell29.8
TestisSeminiferousTubule28.95
Thalamus44.5
Thymus22.85
Thyroid36.85
Tongue46.6
Tonsil28.95
Trachea25.45
TrigeminalGanglion29.65
Uterus24.95
UterusCorpus27.55
WholeBlood28.9
Wholebrain25.65
colon27.9
pineal_day37.22
pineal_night32.02
retina35.425
small_intestine29.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_209_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala3.05 ± 1.06
Basal Forebrain2.6 ± 0.63
Basal Part of Pons2.69 ± 0.79
Cerebellar Cortex2.97 ± 0.65
Cerebellar Nuclei2.7 ± 0.71
Claustrum3.17 ± 0.77
Epithalamus2.46 ± 0.62
Frontal Lobe2.67 ± 0.72
Globus Pallidus2.69 ± 0.7
Hypothalamus2.45 ± 0.57
Insula2.4 ± 0.65
Limbic Lobe2.58 ± 0.65
Mesencephalon2.79 ± 0.74
Myelencephalon2.71 ± 0.66
Occipital Lobe2.66 ± 0.59
Parietal Lobe2.63 ± 0.65
Pontine Tegmentum2.66 ± 0.69
Striatum2.38 ± 0.6
Subthalamus2.68 ± 0.81
Temporal Lobe2.71 ± 0.72
Thalamus2.64 ± 0.65
White Matter2.46 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ptcd1CBCerebellum12.7
13.19
Ptcd1CTXCerebral cortex25.88
15.93
Ptcd1HIPHippocampal region20.94
20.6
Ptcd1HPFHippocampal formation23.45
19.11
Ptcd1HYHypothalamus3.27
1.99
Ptcd1LSXLateral septal complex2.97
1.71
Ptcd1MBMidbrain7.74
6.13
Ptcd1MYMedulla13.52
11.54
Ptcd1OLFOlfactory bulb26.46
17.57
Ptcd1PPons8.1
7.04
Ptcd1PALPallidum7.08
4.25
Ptcd1RHPRetrohippocampal region27.14
17.62
Ptcd1sAMYStriatum-like amygdalar nuclei11.03
5.04
Ptcd1STRStriatum34.35
19.45
Ptcd1STRdStriatum dorsal region39.58
22.04
Ptcd1STRvStriatum ventral region40.66
23.65
Ptcd1THThalamus6.66
4.32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001587 13 28 40 DFSPSGIFGAFQR Peptide Atlas

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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