AutismKB 2.0

Annotation Detail for PDIA6


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Basic Information Top
Gene Symbol:PDIA6 ( ERP5,P5,TXNDC7 )
Gene Full Name: protein disulfide isomerase family A, member 6
Band: 2p25.1
Quick LinksEntrez ID:10130; OMIM: 611099; Uniprot ID:PDIA6_HUMAN; ENSEMBL ID: ENSG00000143870; HGNC ID: 30168
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 body32 / 70761452
blastocyst16 / 62319256
fetus108 / 564012191
neonate14 / 31097450
infant14 / 23620592
juvenile28 / 55556503
adult578 / 1939121298
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor8 / 12794625
bladder carcinoma6 / 17475343
breast (mammary gland) tumor28 / 94178297
cervical tumor9 / 34366261
chondrosarcoma32 / 82823386
colorectal tumor38 / 114246332
esophageal tumor12 / 17290694
gastrointestinal tumor45 / 119369376
germ cell tumor96 / 263845363
glioma26 / 106883243
head and neck tumor19 / 136302139
kidney tumor21 / 68959304
leukemia19 / 95842198
liver tumor43 / 96359446
lung tumor20 / 103127193
lymphoma14 / 71755195
non-neoplasia18 / 97250185
normal814 / 3360307242
ovarian tumor28 / 76682365
pancreatic tumor33 / 104616315
primitive neuroectodermal tumor of the CNS55 / 125680437
prostate cancer36 / 102680350
retinoblastoma24 / 46356517
skin tumor30 / 124949240
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor40 / 90257443
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland14 / 33197421
ascites20 / 40015499
bladder11 / 29757369
blood22 / 123478178
bone24 / 71655334
bone marrow12 / 48801245
brain200 / 1100989181
cervix14 / 48171290
connective tissue41 / 149255274
ear7 / 16212431
embryonic tissue85 / 215722394
esophagus13 / 20209643
eye44 / 211054208
heart20 / 89626223
intestine82 / 234472349
kidney47 / 211777221
larynx3 / 24145124
liver116 / 207743558
lung87 / 336974258
lymph5 / 44270112
lymph node8 / 9161087
mammary gland46 / 153271300
mouth2 / 6705229
muscle9 / 10771583
nerve4 / 15768253
ovary38 / 102051372
pancreas61 / 214812283
parathyroid21 / 205391022
pharynx11 / 41328266
pituitary gland4 / 16585241
placenta126 / 280825448
prostate58 / 189345306
salivary gland2 / 2015599
skin68 / 210574322
spleen5 / 5395292
stomach21 / 96619217
testis80 / 330442242
thymus5 / 8113161
thyroid21 / 47473442
tonsil2 / 16999117
trachea8 / 52413152
umbilical cord6 / 13680438
uterus80 / 232878343
vascular25 / 51780482
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208639_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts804.5
Adipocyte312.15
AdrenalCortex77.5
Adrenalgland114
Amygdala81.55
Appendix44
AtrioventricularNode17.7
BDCA4+_DentriticCells945.35
Bonemarrow134.3
BronchialEpithelialCells1197.05
CD105+_Endothelial231.75
CD14+_Monocytes436.05
CD19+_BCells(neg._sel.)213.75
CD33+_Myeloid526.05
CD34+857.3
CD4+_Tcells116.35
CD56+_NKCells526.8
CD71+_EarlyErythroid88.35
CD8+_Tcells109.4
CardiacMyocytes503.3
Caudatenucleus47.9
Cerebellum34.6
CerebellumPeduncles39.55
CiliaryGanglion6.55
CingulateCortex38.9
Colorectaladenocarcinoma454.15
DorsalRootGanglion24.45
FetalThyroid466.4
Fetalbrain75.55
Fetalliver202.6
Fetallung360.6
GlobusPallidus17.2
Heart60
Hypothalamus90
Kidney79.5
Leukemia_chronicMyelogenousK-562455.6
Leukemia_promyelocytic-HL-60328.85
Leukemialymphoblastic(MOLT-4)111.6
Liver140.3
Lung137.9
Lymphnode178.05
Lymphoma_burkitts(Daudi)600.9
Lymphoma_burkitts(Raji)220.5
MedullaOblongata47.7
OccipitalLobe45.95
OlfactoryBulb148
Ovary80.75
Pancreas322.7
PancreaticIslet347.35
ParietalLobe24.45
Pituitary178.45
Placenta724.45
Pons26.75
PrefrontalCortex57.65
Prostate181.2
Salivarygland213.65
SkeletalMuscle7.4
Skin30.2
SmoothMuscle1285.4
Spinalcord107.95
SubthalamicNucleus25.5
SuperiorCervicalGanglion19.6
TemporalLobe44.15
Testis87.75
TestisGermCell105.45
TestisIntersitial46.45
TestisLeydigCell93.35
TestisSeminiferousTubule42.45
Thalamus71.55
Thymus136.65
Thyroid620.65
Tongue37.65
Tonsil148.55
Trachea259.85
TrigeminalGanglion51.85
Uterus160.35
UterusCorpus64.45
WholeBlood129.85
Wholebrain87.45
colon321.75
pineal_day207.12
pineal_night222.56
retina138.85
small_intestine418.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P319715
  • 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
Amygdala6.95 ± 0.34
Basal Forebrain7.13 ± 0.19
Basal Part of Pons6.86 ± 0.37
Cerebellar Cortex6.83 ± 0.23
Cerebellar Nuclei6.95 ± 0.33
Claustrum6.66 ± 0.59
Epithalamus7.43 ± 0.46
Frontal Lobe7.13 ± 0.3
Globus Pallidus7.27 ± 0.22
Hypothalamus7.18 ± 0.43
Insula7.12 ± 0.19
Limbic Lobe6.95 ± 0.37
Mesencephalon6.98 ± 0.32
Myelencephalon7.12 ± 0.32
Occipital Lobe7.02 ± 0.37
Parietal Lobe7.07 ± 0.32
Pontine Tegmentum7.16 ± 0.32
Striatum7.34 ± 0.26
Subthalamus6.82 ± 0.17
Temporal Lobe7.12 ± 0.35
Thalamus7.26 ± 0.25
White Matter7.5 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdia6CBCerebellum45.4
100
Pdia6CTXCerebral cortex100
100
Pdia6HIPHippocampal region100
100
Pdia6HPFHippocampal formation100
100
Pdia6HYHypothalamus100
100
Pdia6LSXLateral septal complex100
100
Pdia6MBMidbrain100
100
Pdia6MYMedulla100
100
Pdia6OLFOlfactory bulb100
100
Pdia6PPons96.85
100
Pdia6PALPallidum100
100
Pdia6RHPRetrohippocampal region100
100
Pdia6sAMYStriatum-like amygdalar nuclei100
100
Pdia6STRStriatum100
100
Pdia6STRdStriatum dorsal region100
100
Pdia6STRvStriatum ventral region100
100
Pdia6THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003360 17 86 102 HHSLGGQYGVQGFPTIK Peptide Atlas
PDIA6_HUMAN_0 0 0 0 ALDLFSDNAPPPELLEIINEDIAK PRIDE
PDIA6_HUMAN_0 0 0 0 ALDLFSDNAPPPELLEIINEDIAKR PRIDE
PDIA6_HUMAN_0 0 0 0 GSFSEQGINEFLR PRIDE
PDIA6_HUMAN_0 0 0 0 LAAVDATVNQVLASR PRIDE
PDIA6_HUMAN_0 0 0 0 NSYLEVLLK PRIDE
PDIA6_HUMAN_0 0 0 0 TGEAIVDAALSALR PRIDE
PDIA6_HUMAN_0 0 0 0 VGAVDADKHHSLGGQYGVQGFPTIK PRIDE
PDIA6_HUMAN_109 10 109 118 NRPEDYQGGR PRIDE
PDIA6_HUMAN_118 14 118 131 TGEAIVDAALSALR PRIDE
PDIA6_HUMAN_119 14 119 132 TGEAIVDAALSALR PRIDE
PDIA6_HUMAN_133 6 133 138 QLVKDR PRIDE
PDIA6_HUMAN_194 14 194 207 NLEPEWAAAASEVK PRIDE
PDIA6_HUMAN_194 18 194 211 NLEPEWAAAASEVKEQTK PRIDE
PDIA6_HUMAN_20 18 20 37 LYSSSDDVIELTPSNFNR PRIDE
PDIA6_HUMAN_214 17 214 230 VKLAAVDATVNQVLASR PRIDE
PDIA6_HUMAN_216 15 216 230 LAAVDATVNQVLASR PRIDE
PDIA6_HUMAN_217 15 217 231 LAAVDATVNQVLASR PRIDE
PDIA6_HUMAN_241 15 241 255 IFQKGESPVDYDGGR PRIDE
PDIA6_HUMAN_245 11 245 255 GESPVDYDGGR PRIDE
PDIA6_HUMAN_246 11 246 256 GESPVDYDGGR PRIDE
PDIA6_HUMAN_264 24 264 287 ALDLFSDNAPPPELLEIINEDIAK PRIDE
PDIA6_HUMAN_264 25 264 288 ALDLFSDNAPPPELLEIINEDIAKR PRIDE
PDIA6_HUMAN_265 24 265 288 ALDLFSDNAPPPELLEIINEDIAK PRIDE
PDIA6_HUMAN_313 9 313 321 NSYLEVLLK PRIDE
PDIA6_HUMAN_314 9 314 322 NSYLEVLLK PRIDE
PDIA6_HUMAN_373 13 373 385 GSFSEQGINEFLR PRIDE
PDIA6_HUMAN_374 13 374 386 GSFSEQGINEFLR PRIDE
PDIA6_HUMAN_392 23 392 414 GSTAPVGGGAFPTIVEREPWDGR PRIDE
PDIA6_HUMAN_393 17 393 409 GSTAPVGGGAFPTIVER PRIDE
PDIA6_HUMAN_77 25 77 101 VGAVDADKHHSLGGQYGVQGFPTIK 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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