AutismKB 2.0

Annotation Detail for PDXDC1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PDXDC1 ( KIAA0251,LP8165 )
Gene Full Name: pyridoxal-dependent decarboxylase domain containing 1
Band: 16p13.11
Quick LinksEntrez ID:23042; OMIM: NA; Uniprot ID:PDXD1_HUMAN; ENSEMBL ID: ENSG00000179889; HGNC ID: 28995
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 body15 / 70761211
blastocyst12 / 62319192
fetus140 / 564012248
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult253 / 1939121130
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor5 / 34366145
chondrosarcoma13 / 82823156
colorectal tumor23 / 114246201
esophageal tumor1 / 1729057
gastrointestinal tumor20 / 119369167
germ cell tumor44 / 263845166
glioma8 / 10688374
head and neck tumor22 / 136302161
kidney tumor3 / 6895943
leukemia12 / 95842125
liver tumor6 / 9635962
lung tumor12 / 103127116
lymphoma4 / 7175555
non-neoplasia9 / 9725092
normal519 / 3360307154
ovarian tumor3 / 7668239
pancreatic tumor17 / 104616162
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer12 / 102680116
retinoblastoma3 / 4635664
skin tumor8 / 12494964
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites8 / 40015199
bladder0 / 297570 
blood10 / 12347880
bone9 / 71655125
bone marrow3 / 4880161
brain162 / 1100989147
cervix5 / 48171103
connective tissue16 / 149255107
ear1 / 1621261
embryonic tissue36 / 215722166
esophagus1 / 2020949
eye12 / 21105456
heart8 / 8962689
intestine42 / 234472179
kidney17 / 21177780
larynx2 / 2414582
liver46 / 207743221
lung29 / 33697486
lymph1 / 4427022
lymph node12 / 91610130
mammary gland15 / 15327197
mouth16 / 67052238
muscle17 / 107715157
nerve2 / 15768126
ovary7 / 10205168
pancreas24 / 214812111
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta37 / 280825131
prostate19 / 189345100
salivary gland1 / 2015549
skin17 / 21057480
spleen5 / 5395292
stomach17 / 96619175
testis117 / 330442354
thymus6 / 8113173
thyroid3 / 4747363
tonsil0 / 169990 
trachea28 / 52413534
umbilical cord1 / 1368073
uterus27 / 232878115
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212053_at
Cell line Expression level Expression bar
721_B_lymphoblasts416.3
Adipocyte131.25
AdrenalCortex124.1
Adrenalgland142.3
Amygdala187.1
Appendix100.05
AtrioventricularNode48.5
BDCA4+_DentriticCells231
Bonemarrow141.5
BronchialEpithelialCells195.85
CD105+_Endothelial225
CD14+_Monocytes179.05
CD19+_BCells(neg._sel.)102.1
CD33+_Myeloid253.3
CD34+247.55
CD4+_Tcells166.85
CD56+_NKCells242.6
CD71+_EarlyErythroid96.55
CD8+_Tcells157.65
CardiacMyocytes77.65
Caudatenucleus109.15
Cerebellum164
CerebellumPeduncles164.6
CiliaryGanglion24.95
CingulateCortex114.5
Colorectaladenocarcinoma168.75
DorsalRootGanglion44.85
FetalThyroid159.4
Fetalbrain187.45
Fetalliver137.65
Fetallung172.25
GlobusPallidus64.1
Heart97
Hypothalamus178.6
Kidney243.15
Leukemia_chronicMyelogenousK-562190.75
Leukemia_promyelocytic-HL-60141.25
Leukemialymphoblastic(MOLT-4)119.75
Liver302.1
Lung206.95
Lymphnode123.7
Lymphoma_burkitts(Daudi)251.35
Lymphoma_burkitts(Raji)210.75
MedullaOblongata99.4
OccipitalLobe113.95
OlfactoryBulb103.7
Ovary57.5
Pancreas182.35
PancreaticIslet414.95
ParietalLobe75.95
Pituitary223.15
Placenta328.75
Pons66.6
PrefrontalCortex150.3
Prostate799.3
Salivarygland229.45
SkeletalMuscle67.15
Skin50.95
SmoothMuscle234.55
Spinalcord134.1
SubthalamicNucleus67.5
SuperiorCervicalGanglion116.2
TemporalLobe73.35
Testis577.7
TestisGermCell359.45
TestisIntersitial326.7
TestisLeydigCell376.5
TestisSeminiferousTubule321.85
Thalamus135.85
Thymus107.7
Thyroid334.25
Tongue76.65
Tonsil123.35
Trachea301.7
TrigeminalGanglion50.8
Uterus132.7
UterusCorpus94.45
WholeBlood84.05
Wholebrain198.9
colon533.25
pineal_day158.7
pineal_night192.94
retina258.175
small_intestine523.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5807_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
Amygdala5.26 ± 0.42
Basal Forebrain5.01 ± 0.47
Basal Part of Pons5.44 ± 0.43
Cerebellar Cortex5.4 ± 0.34
Cerebellar Nuclei5.22 ± 0.37
Claustrum5.44 ± 0.59
Epithalamus5.06 ± 0.5
Frontal Lobe5.23 ± 0.45
Globus Pallidus5.09 ± 0.56
Hypothalamus5.19 ± 0.54
Insula5.07 ± 0.2
Limbic Lobe5.4 ± 0.38
Mesencephalon5.23 ± 0.51
Myelencephalon5.21 ± 0.49
Occipital Lobe5.37 ± 0.41
Parietal Lobe5.38 ± 0.4
Pontine Tegmentum5.31 ± 0.45
Striatum5.33 ± 0.42
Subthalamus5.7 ± 0.2
Temporal Lobe5.19 ± 0.44
Thalamus5.1 ± 0.41
White Matter5.56 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2210010A19RikCBCerebellum15.8
23.97
2210010A19RikCTXCerebral cortex66.01
56.17
2210010A19RikHIPHippocampal region49.44
66.91
2210010A19RikHPFHippocampal formation61.74
69.75
2210010A19RikHYHypothalamus35.63
30.46
2210010A19RikLSXLateral septal complex11.43
9.79
2210010A19RikMBMidbrain20.08
22.27
2210010A19RikMYMedulla5.44
8.36
2210010A19RikOLFOlfactory bulb36.78
34.12
2210010A19RikPPons10.53
15.96
2210010A19RikPALPallidum32.57
33.99
2210010A19RikRHPRetrohippocampal region81.42
74.26
2210010A19RiksAMYStriatum-like amygdalar nuclei54.69
43.38
2210010A19RikSTRStriatum23.92
19.16
2210010A19RikSTRdStriatum dorsal region22.25
17.99
2210010A19RikSTRvStriatum ventral region18.32
14.16
2210010A19RikTHThalamus32.16
28.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003521 8 423 430 HSCDALNR 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