AutismKB 2.0

Annotation Detail for PTCD3


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Basic Information Top
Gene Symbol:PTCD3 ( DKFZp666K071,FLJ20758 )
Gene Full Name: Pentatricopeptide repeat domain 3
Band: 2p11.2
Quick LinksEntrez ID:55037; OMIM: NA; Uniprot ID:PTCD3_HUMAN; ENSEMBL ID: ENSG00000132300; HGNC ID: 24717
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 body8 / 70761113
blastocyst10 / 62319160
fetus131 / 564012232
neonate8 / 31097257
infant3 / 23620127
juvenile26 / 55556467
adult260 / 1939121134
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) tumor13 / 94178138
cervical tumor6 / 34366174
chondrosarcoma6 / 8282372
colorectal tumor18 / 114246157
esophageal tumor3 / 17290173
gastrointestinal tumor24 / 119369201
germ cell tumor74 / 263845280
glioma4 / 10688337
head and neck tumor23 / 136302168
kidney tumor6 / 6895987
leukemia9 / 9584293
liver tumor29 / 96359300
lung tumor4 / 10312738
lymphoma12 / 71755167
non-neoplasia13 / 97250133
normal645 / 3360307191
ovarian tumor3 / 7668239
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer11 / 102680107
retinoblastoma5 / 46356107
skin tumor8 / 12494964
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland6 / 33197180
ascites14 / 40015349
bladder3 / 29757100
blood16 / 123478129
bone5 / 7165569
bone marrow8 / 48801163
brain274 / 1100989248
cervix9 / 48171186
connective tissue11 / 14925573
ear1 / 1621261
embryonic tissue33 / 215722152
esophagus3 / 20209148
eye22 / 211054104
heart17 / 89626189
intestine39 / 234472166
kidney30 / 211777141
larynx0 / 241450 
liver55 / 207743264
lung38 / 336974112
lymph9 / 44270203
lymph node8 / 9161087
mammary gland18 / 153271117
mouth27 / 67052402
muscle12 / 107715111
nerve2 / 15768126
ovary4 / 10205139
pancreas15 / 21481269
parathyroid5 / 20539243
pharynx6 / 41328145
pituitary gland2 / 16585120
placenta50 / 280825178
prostate31 / 189345163
salivary gland1 / 2015549
skin21 / 21057499
spleen17 / 53952315
stomach13 / 96619134
testis136 / 330442411
thymus34 / 81131419
thyroid3 / 4747363
tonsil0 / 169990 
trachea16 / 52413305
umbilical cord1 / 1368073
uterus27 / 232878115
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217895_at
Cell line Expression level Expression bar
721_B_lymphoblasts196.65
Adipocyte17.75
AdrenalCortex14.05
Adrenalgland11.05
Amygdala14.9
Appendix8.5
AtrioventricularNode9.45
BDCA4+_DentriticCells86.3
Bonemarrow9.55
BronchialEpithelialCells13.1
CD105+_Endothelial99.25
CD14+_Monocytes18.6
CD19+_BCells(neg._sel.)53.75
CD33+_Myeloid33.3
CD34+135.85
CD4+_Tcells162.35
CD56+_NKCells82.1
CD71+_EarlyErythroid26
CD8+_Tcells150.25
CardiacMyocytes15.25
Caudatenucleus14.4
Cerebellum8.2
CerebellumPeduncles10.4
CiliaryGanglion6.5
CingulateCortex11.65
Colorectaladenocarcinoma22.9
DorsalRootGanglion9.9
FetalThyroid14.1
Fetalbrain14.45
Fetalliver22.45
Fetallung16.45
GlobusPallidus6.65
Heart9
Hypothalamus35.45
Kidney9.6
Leukemia_chronicMyelogenousK-56256.45
Leukemia_promyelocytic-HL-60117.7
Leukemialymphoblastic(MOLT-4)60.65
Liver10.3
Lung8.35
Lymphnode28.65
Lymphoma_burkitts(Daudi)73.4
Lymphoma_burkitts(Raji)27.9
MedullaOblongata11.85
OccipitalLobe12.6
OlfactoryBulb12.45
Ovary8.2
Pancreas24.85
PancreaticIslet14.15
ParietalLobe10.8
Pituitary23.75
Placenta10.1
Pons10.9
PrefrontalCortex19.45
Prostate13.55
Salivarygland9.9
SkeletalMuscle12.4
Skin6.1
SmoothMuscle13.2
Spinalcord19.25
SubthalamicNucleus7
SuperiorCervicalGanglion10.9
TemporalLobe8.4
Testis46
TestisGermCell60.55
TestisIntersitial21.7
TestisLeydigCell26.3
TestisSeminiferousTubule25.6
Thalamus15.7
Thymus21.15
Thyroid22.25
Tongue11.1
Tonsil12.05
Trachea10
TrigeminalGanglion9.6
Uterus16.75
UterusCorpus9.95
WholeBlood16.85
Wholebrain10.75
colon16.5
pineal_day54.2
pineal_night45.6
retina18.675
small_intestine23.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P44385
  • 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
Amygdala2.18 ± 0.96
Basal Forebrain2.05 ± 1.26
Basal Part of Pons1.95 ± 1.38
Cerebellar Cortex2.18 ± 0.72
Cerebellar Nuclei2 ± 0.71
Claustrum2.46 ± 0.79
Epithalamus1.78 ± 0.84
Frontal Lobe1.63 ± 0.7
Globus Pallidus2.27 ± 0.7
Hypothalamus1.85 ± 0.77
Insula1.61 ± 0.62
Limbic Lobe1.72 ± 0.61
Mesencephalon1.92 ± 0.62
Myelencephalon1.84 ± 0.68
Occipital Lobe2.17 ± 0.92
Parietal Lobe1.9 ± 0.77
Pontine Tegmentum1.82 ± 0.67
Striatum1.99 ± 0.96
Subthalamus1.89 ± 0.69
Temporal Lobe1.72 ± 0.75
Thalamus1.82 ± 0.62
White Matter2.18 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ptcd3CBCerebellum9.4
11.39
Ptcd3CTXCerebral cortex12.56
10.1
Ptcd3HIPHippocampal region12.34
12.81
Ptcd3HPFHippocampal formation12.49
11.67
Ptcd3HYHypothalamus1.46
1.32
Ptcd3LSXLateral septal complex0.36
0.51
Ptcd3MBMidbrain3.13
3.49
Ptcd3MYMedulla10.73
13.48
Ptcd3OLFOlfactory bulb6.63
4.89
Ptcd3PPons8.95
10.92
Ptcd3PALPallidum2.41
2.26
Ptcd3RHPRetrohippocampal region13.15
10.31
Ptcd3sAMYStriatum-like amygdalar nuclei2.19
1.51
Ptcd3STRStriatum1.67
1.24
Ptcd3STRdStriatum dorsal region1.96
1.49
Ptcd3STRvStriatum ventral region1.2
0.79
Ptcd3THThalamus4.14
3.66
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000433 16 362 377 AIGIEPSLATYHHIIR 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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