AutismKB 2.0

Annotation Detail for PDHA1


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Basic Information Top
Gene Symbol:PDHA1 ( PDHA,PDHCE1A,PHE1A )
Gene Full Name: pyruvate dehydrogenase (lipoamide) alpha 1
Band: Xp22.12
Quick LinksEntrez ID:5160; OMIM: 300502; Uniprot ID:ODPA_HUMAN; ENSEMBL ID: ENSG00000131828; HGNC ID: 8806
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 body7 / 7076198
blastocyst12 / 62319192
fetus70 / 564012124
neonate2 / 3109764
infant3 / 23620127
juvenile3 / 5555653
adult322 / 1939121166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor18 / 94178191
cervical tumor12 / 34366349
chondrosarcoma7 / 8282384
colorectal tumor29 / 114246253
esophageal tumor1 / 1729057
gastrointestinal tumor23 / 119369192
germ cell tumor50 / 263845189
glioma14 / 106883130
head and neck tumor21 / 136302154
kidney tumor6 / 6895987
leukemia17 / 95842177
liver tumor23 / 96359238
lung tumor18 / 103127174
lymphoma13 / 71755181
non-neoplasia2 / 9725020
normal458 / 3360307136
ovarian tumor6 / 7668278
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS23 / 125680183
prostate cancer8 / 10268077
retinoblastoma5 / 46356107
skin tumor21 / 124949168
soft tissue/muscle tissue tumor27 / 125191215
uterine tumor20 / 90257221
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue6 / 13106457
adrenal gland3 / 3319790
ascites11 / 40015274
bladder1 / 2975733
blood23 / 123478186
bone3 / 7165541
bone marrow7 / 48801143
brain178 / 1100989161
cervix12 / 48171249
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue27 / 215722125
esophagus1 / 2020949
eye28 / 211054132
heart22 / 89626245
intestine41 / 234472174
kidney41 / 211777193
larynx4 / 24145165
liver31 / 207743149
lung49 / 336974145
lymph10 / 44270225
lymph node2 / 9161021
mammary gland21 / 153271137
mouth8 / 67052119
muscle41 / 107715380
nerve0 / 157680 
ovary13 / 102051127
pancreas15 / 21481269
parathyroid2 / 2053997
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta39 / 280825138
prostate22 / 189345116
salivary gland2 / 2015599
skin33 / 210574156
spleen1 / 5395218
stomach15 / 96619155
testis26 / 33044278
thymus10 / 81131123
thyroid17 / 47473358
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord2 / 13680146
uterus41 / 232878176
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200979_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.15
Adipocyte8.9
AdrenalCortex4.95
Adrenalgland4
Amygdala14.15
Appendix4.7
AtrioventricularNode3.5
BDCA4+_DentriticCells5.75
Bonemarrow4.55
BronchialEpithelialCells4.4
CD105+_Endothelial12.4
CD14+_Monocytes5.55
CD19+_BCells(neg._sel.)5.45
CD33+_Myeloid8.7
CD34+8
CD4+_Tcells5.25
CD56+_NKCells8.85
CD71+_EarlyErythroid5.35
CD8+_Tcells5.25
CardiacMyocytes6.15
Caudatenucleus4.5
Cerebellum4.05
CerebellumPeduncles5.35
CiliaryGanglion3.2
CingulateCortex4.8
Colorectaladenocarcinoma6.1
DorsalRootGanglion3.65
FetalThyroid4.6
Fetalbrain4.5
Fetalliver4.3
Fetallung3.8
GlobusPallidus3.5
Heart6.1
Hypothalamus7.15
Kidney4.25
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-6014.7
Leukemialymphoblastic(MOLT-4)3.65
Liver5.85
Lung4.9
Lymphnode4.35
Lymphoma_burkitts(Daudi)12.55
Lymphoma_burkitts(Raji)6.85
MedullaOblongata4.15
OccipitalLobe5.2
OlfactoryBulb3.55
Ovary3.1
Pancreas3.7
PancreaticIslet4.75
ParietalLobe4.9
Pituitary6.5
Placenta4.75
Pons4.35
PrefrontalCortex12.9
Prostate5.5
Salivarygland5.1
SkeletalMuscle5.35
Skin3.5
SmoothMuscle5.05
Spinalcord4.9
SubthalamicNucleus4.35
SuperiorCervicalGanglion5.3
TemporalLobe4.3
Testis3.8
TestisGermCell3.5
TestisIntersitial3.7
TestisLeydigCell4.55
TestisSeminiferousTubule3.7
Thalamus6.75
Thymus3.65
Thyroid6.05
Tongue4.6
Tonsil4.5
Trachea3.8
TrigeminalGanglion4.55
Uterus3.65
UterusCorpus4
WholeBlood5
Wholebrain7.75
colon5.55
pineal_day17.62
pineal_night12.86
retina6.625
small_intestine9.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P308483
  • 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
Amygdala2.91 ± 0.96
Basal Forebrain2.41 ± 0.59
Basal Part of Pons2.08 ± 0.37
Cerebellar Cortex2.19 ± 0.75
Cerebellar Nuclei2.62 ± 0.73
Claustrum3.15 ± 0.84
Epithalamus1.99 ± 0.71
Frontal Lobe2.22 ± 0.67
Globus Pallidus2.78 ± 0.47
Hypothalamus2.42 ± 0.76
Insula2.26 ± 1.07
Limbic Lobe2.34 ± 0.61
Mesencephalon2.57 ± 0.84
Myelencephalon2.37 ± 0.69
Occipital Lobe2.46 ± 0.73
Parietal Lobe2.41 ± 0.73
Pontine Tegmentum2.27 ± 0.6
Striatum2.43 ± 0.6
Subthalamus2.45 ± 0.66
Temporal Lobe2.19 ± 0.64
Thalamus2.22 ± 0.62
White Matter2.61 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdha1CBCerebellum31.46
90.35
Pdha1CTXCerebral cortex100
100
Pdha1HIPHippocampal region100
100
Pdha1HPFHippocampal formation100
100
Pdha1HYHypothalamus61.31
67.17
Pdha1LSXLateral septal complex90.28
85.69
Pdha1MBMidbrain83.44
99.06
Pdha1MYMedulla72.95
100
Pdha1OLFOlfactory bulb100
100
Pdha1PPons77.63
100
Pdha1PALPallidum73.67
92.27
Pdha1RHPRetrohippocampal region100
100
Pdha1sAMYStriatum-like amygdalar nuclei74.54
75.47
Pdha1STRStriatum76.79
70.19
Pdha1STRdStriatum dorsal region74.94
67.36
Pdha1STRvStriatum ventral region77.64
70.88
Pdha1THThalamus93.67
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ODPA_HUMAN_133 9 133 141 EILAELTGR PRIDE
ODPA_HUMAN_277 11 277 287 GPILMELQTYR PRIDE
ODPA_HUMAN_278 11 278 288 GPILMELQTYR PRIDE
ODPA_HUMAN_311 10 311 320 SKSDPIMLLK PRIDE
ODPA_HUMAN_316 8 316 323 PIMLLKDR PRIDE
ODPA_HUMAN_323 20 323 342 MVNSNLASVEELKEIDVEVR PRIDE
ODPA_HUMAN_45 13 45 57 LEEGPPVTTVLTR PRIDE
PAp00000897 18 79 96 CDLHRLEEGPPVTTVLTR 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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