AutismKB 2.0

Annotation Detail for PDIA4


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Basic Information Top
Gene Symbol:PDIA4 ( ERP70,ERP72,ERp-72 )
Gene Full Name: protein disulfide isomerase family A, member 4
Band: 7q36.1
Quick LinksEntrez ID:9601; OMIM: NA; Uniprot ID:PDIA4_HUMAN; ENSEMBL ID: ENSG00000155660; HGNC ID: 30167
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 body11 / 70761155
blastocyst15 / 62319240
fetus49 / 56401286
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult269 / 1939121138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor26 / 94178276
cervical tumor3 / 3436687
chondrosarcoma13 / 82823156
colorectal tumor34 / 114246297
esophageal tumor6 / 17290347
gastrointestinal tumor42 / 119369351
germ cell tumor37 / 263845140
glioma22 / 106883205
head and neck tumor18 / 136302132
kidney tumor11 / 68959159
leukemia15 / 95842156
liver tumor17 / 96359176
lung tumor36 / 103127349
lymphoma3 / 7175541
non-neoplasia9 / 9725092
normal271 / 336030780
ovarian tumor17 / 76682221
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer24 / 102680233
retinoblastoma6 / 46356129
skin tumor11 / 12494988
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor23 / 90257254
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood11 / 12347889
bone7 / 7165597
bone marrow10 / 48801204
brain48 / 110098943
cervix4 / 4817183
connective tissue10 / 14925566
ear2 / 16212123
embryonic tissue40 / 215722185
esophagus6 / 20209296
eye22 / 211054104
heart5 / 8962655
intestine66 / 234472281
kidney29 / 211777136
larynx4 / 24145165
liver22 / 207743105
lung62 / 336974183
lymph2 / 4427045
lymph node18 / 91610196
mammary gland38 / 153271247
mouth5 / 6705274
muscle9 / 10771583
nerve0 / 157680 
ovary22 / 102051215
pancreas23 / 214812107
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta16 / 28082556
prostate34 / 189345179
salivary gland0 / 201550 
skin29 / 210574137
spleen0 / 539520 
stomach31 / 96619320
testis29 / 33044287
thymus2 / 8113124
thyroid16 / 47473337
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus32 / 232878137
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211048_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts618.1
Adipocyte140.55
AdrenalCortex60.25
Adrenalgland81.25
Amygdala71.65
Appendix48
AtrioventricularNode53.25
BDCA4+_DentriticCells1355.75
Bonemarrow156.75
BronchialEpithelialCells763.25
CD105+_Endothelial177.35
CD14+_Monocytes227.85
CD19+_BCells(neg._sel.)346.35
CD33+_Myeloid321.5
CD34+615.3
CD4+_Tcells156.5
CD56+_NKCells659.85
CD71+_EarlyErythroid53.25
CD8+_Tcells157
CardiacMyocytes361.2
Caudatenucleus25.5
Cerebellum56.4
CerebellumPeduncles80.2
CiliaryGanglion48.05
CingulateCortex44.1
Colorectaladenocarcinoma443
DorsalRootGanglion39.1
FetalThyroid303.4
Fetalbrain62.3
Fetalliver176.9
Fetallung261.95
GlobusPallidus31.7
Heart112.85
Hypothalamus65.65
Kidney73.05
Leukemia_chronicMyelogenousK-562224.55
Leukemia_promyelocytic-HL-60150.2
Leukemialymphoblastic(MOLT-4)228.75
Liver903.15
Lung503.95
Lymphnode151.05
Lymphoma_burkitts(Daudi)339.9
Lymphoma_burkitts(Raji)252.4
MedullaOblongata24.75
OccipitalLobe36
OlfactoryBulb144.25
Ovary113.3
Pancreas190.6
PancreaticIslet298.1
ParietalLobe53.85
Pituitary153.75
Placenta232.1
Pons28.5
PrefrontalCortex60.1
Prostate968.05
Salivarygland85.4
SkeletalMuscle88.7
Skin56.4
SmoothMuscle853.85
Spinalcord77.05
SubthalamicNucleus29.05
SuperiorCervicalGanglion41.1
TemporalLobe35.95
Testis85.75
TestisGermCell94.4
TestisIntersitial90.8
TestisLeydigCell110.3
TestisSeminiferousTubule74.15
Thalamus39.3
Thymus213.9
Thyroid1443.75
Tongue52.6
Tonsil158.1
Trachea208.6
TrigeminalGanglion62.25
Uterus233.05
UterusCorpus66.2
WholeBlood106.35
Wholebrain152.05
colon684.95
pineal_day56.76
pineal_night66.24
retina120.325
small_intestine947.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P192804
  • 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
Amygdala2.3 ± 0.95
Basal Forebrain1.92 ± 0.21
Basal Part of Pons1.6 ± 0.34
Cerebellar Cortex1.69 ± 0.65
Cerebellar Nuclei2.19 ± 0.68
Claustrum2.76 ± 0.84
Epithalamus1.62 ± 0.74
Frontal Lobe1.71 ± 0.55
Globus Pallidus2.47 ± 0.3
Hypothalamus1.92 ± 0.63
Insula1.8 ± 0.5
Limbic Lobe1.91 ± 0.64
Mesencephalon2.03 ± 0.64
Myelencephalon1.9 ± 0.62
Occipital Lobe1.94 ± 0.57
Parietal Lobe1.89 ± 0.62
Pontine Tegmentum1.94 ± 0.65
Striatum2.1 ± 0.54
Subthalamus2.07 ± 0.67
Temporal Lobe1.78 ± 0.6
Thalamus1.86 ± 0.54
White Matter2.49 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdia4CBCerebellum19.78
31.62
Pdia4CTXCerebral cortex18.44
14.11
Pdia4HIPHippocampal region15.55
17.18
Pdia4HPFHippocampal formation14.87
14.77
Pdia4HYHypothalamus6.61
6.71
Pdia4LSXLateral septal complex5.25
4.89
Pdia4MBMidbrain10.06
11.68
Pdia4MYMedulla14.17
18.6
Pdia4OLFOlfactory bulb17.02
12.81
Pdia4PPons8.65
10.73
Pdia4PALPallidum9.87
9.78
Pdia4RHPRetrohippocampal region13.87
11.36
Pdia4sAMYStriatum-like amygdalar nuclei6.47
5.03
Pdia4STRStriatum7.23
5.96
Pdia4STRdStriatum dorsal region7.78
6.68
Pdia4STRvStriatum ventral region6.64
4.74
Pdia4THThalamus6.78
7.78
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00033093 22 464 485 DLGLSESGEDVNAAILDESGKK Peptide Atlas
PDIA4_HUMAN_103 16 103 118 IANILKDKDPPIPVAK PRIDE
PDIA4_HUMAN_113 19 113 131 PPIPVAKIDATSASVLASR PRIDE
PDIA4_HUMAN_119 12 119 130 IDATSASVLASR PRIDE
PDIA4_HUMAN_119 22 119 140 IDATSASVLASRFDVSGYPTIK PRIDE
PDIA4_HUMAN_120 12 120 131 IDATSASVLASR PRIDE
PDIA4_HUMAN_131 10 131 140 FDVSGYPTIK PRIDE
PDIA4_HUMAN_144 19 144 162 KGQAVDYEGSRTQEEIVAK PRIDE
PDIA4_HUMAN_145 18 145 162 GQAVDYEGSRTQEEIVAK PRIDE
PDIA4_HUMAN_165 19 165 183 EVSQPDWTPPPEVTLVLTK PRIDE
PDIA4_HUMAN_234 11 234 244 VDATAETDLAK PRIDE
PDIA4_HUMAN_245 11 245 255 RFDVSGYPTLK PRIDE
PDIA4_HUMAN_246 10 246 255 FDVSGYPTLK PRIDE
PDIA4_HUMAN_271 18 271 288 EKYGIVDYMIEQSGPPSK PRIDE
PDIA4_HUMAN_272 22 272 293 YGIVDYMIEQSGPPSKEILTLK PRIDE
PDIA4_HUMAN_273 16 273 288 YGIVDYMIEQSGPPSK PRIDE
PDIA4_HUMAN_349 13 349 361 VSQGQLVVMQPEK PRIDE
PDIA4_HUMAN_350 13 350 362 VSQGQLVVMQPEK PRIDE
PDIA4_HUMAN_370 21 370 390 SHMMDVQGSTQDSAIKDFVLK PRIDE
PDIA4_HUMAN_371 16 371 386 SHMMDVQGSTQDSAIK PRIDE
PDIA4_HUMAN_463 22 463 484 DLGLSESGEDVNAAILDESGKK PRIDE
PDIA4_HUMAN_485 14 485 498 FAMEPEEFDSDTLR PRIDE
PDIA4_HUMAN_485 15 485 499 KFAMEPEEFDSDTLR PRIDE
PDIA4_HUMAN_486 14 486 499 FAMEPEEFDSDTLR PRIDE
PDIA4_HUMAN_533 10 533 542 TFDSIVMDPK PRIDE
PDIA4_HUMAN_534 10 534 543 TFDSIVMDPK PRIDE
PDIA4_HUMAN_583 12 583 594 MDATANDVPSDR PRIDE

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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