AutismKB 2.0

Annotation Detail for PEX6


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Basic Information Top
Gene Symbol:PEX6 ( PAF-2,PAF2,PXAAA1 )
Gene Full Name: peroxisomal biogenesis factor 6
Band: 6p21.1
Quick LinksEntrez ID:5190; OMIM: 601498; Uniprot ID:PEX6_HUMAN; ENSEMBL ID: ENSG00000124587; HGNC ID: 8859
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 body6 / 7076184
blastocyst3 / 6231948
fetus19 / 56401233
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult55 / 193912128
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) tumor1 / 9417810
cervical tumor4 / 34366116
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor12 / 26384545
glioma9 / 10688384
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma9 / 71755125
non-neoplasia4 / 9725041
normal119 / 336030735
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood7 / 12347856
bone2 / 7165527
bone marrow5 / 48801102
brain48 / 110098943
cervix7 / 48171145
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye7 / 21105433
heart3 / 8962633
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver6 / 20774328
lung15 / 33697444
lymph9 / 44270203
lymph node5 / 9161054
mammary gland2 / 15327113
mouth7 / 67052104
muscle2 / 10771518
nerve0 / 157680 
ovary2 / 10205119
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate5 / 18934526
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis16 / 33044248
thymus9 / 81131110
thyroid2 / 4747342
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204545_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.45
Adipocyte18.6
AdrenalCortex5.5
Adrenalgland7
Amygdala7.05
Appendix5.05
AtrioventricularNode3.75
BDCA4+_DentriticCells5.7
Bonemarrow5.15
BronchialEpithelialCells6.2
CD105+_Endothelial5.1
CD14+_Monocytes5.3
CD19+_BCells(neg._sel.)21.4
CD33+_Myeloid6.6
CD34+12.15
CD4+_Tcells8
CD56+_NKCells7.35
CD71+_EarlyErythroid4.75
CD8+_Tcells5.3
CardiacMyocytes10.15
Caudatenucleus5.1
Cerebellum4.1
CerebellumPeduncles12.05
CiliaryGanglion3.5
CingulateCortex5.3
Colorectaladenocarcinoma11.45
DorsalRootGanglion3.85
FetalThyroid4.9
Fetalbrain6.7
Fetalliver4.35
Fetallung4.7
GlobusPallidus3.7
Heart13.15
Hypothalamus7.25
Kidney4.85
Leukemia_chronicMyelogenousK-56216.7
Leukemia_promyelocytic-HL-606
Leukemialymphoblastic(MOLT-4)4.2
Liver6.8
Lung5.95
Lymphnode4.45
Lymphoma_burkitts(Daudi)10.05
Lymphoma_burkitts(Raji)18
MedullaOblongata4.65
OccipitalLobe4.6
OlfactoryBulb4.45
Ovary3.3
Pancreas4.05
PancreaticIslet6.5
ParietalLobe5.35
Pituitary6.55
Placenta6.3
Pons4.8
PrefrontalCortex6.85
Prostate23.1
Salivarygland4
SkeletalMuscle7.2
Skin3.85
SmoothMuscle7.8
Spinalcord5.4
SubthalamicNucleus4.6
SuperiorCervicalGanglion5.6
TemporalLobe4.6
Testis10.75
TestisGermCell4.35
TestisIntersitial4.2
TestisLeydigCell5
TestisSeminiferousTubule4.4
Thalamus5.1
Thymus16.25
Thyroid12.4
Tongue4.9
Tonsil5.4
Trachea4.25
TrigeminalGanglion4.9
Uterus6.95
UterusCorpus4.5
WholeBlood9.1
Wholebrain4.95
colon5.05
pineal_day30.42
pineal_night19.8
retina7.225
small_intestine4.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6342_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
Amygdala6.15 ± 0.56
Basal Forebrain6.46 ± 0.19
Basal Part of Pons6.31 ± 0.43
Cerebellar Cortex6.76 ± 0.36
Cerebellar Nuclei6.28 ± 0.35
Claustrum5.56 ± 0.66
Epithalamus7.03 ± 0.63
Frontal Lobe6.44 ± 0.46
Globus Pallidus6.25 ± 0.2
Hypothalamus6.42 ± 0.34
Insula6.42 ± 0.45
Limbic Lobe6.21 ± 0.51
Mesencephalon6.33 ± 0.52
Myelencephalon6.42 ± 0.51
Occipital Lobe6.41 ± 0.39
Parietal Lobe6.36 ± 0.46
Pontine Tegmentum6.38 ± 0.47
Striatum6.17 ± 0.39
Subthalamus6.12 ± 0.72
Temporal Lobe6.48 ± 0.39
Thalamus6.35 ± 0.38
White Matter6.96 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pex6CBCerebellum0
0
Pex6CTXCerebral cortex0
0
Pex6HIPHippocampal region0
0
Pex6HPFHippocampal formation0
0
Pex6HYHypothalamus0
0
Pex6LSXLateral septal complex0
0
Pex6MBMidbrain0
0
Pex6MYMedulla0
0
Pex6OLFOlfactory bulb0
0
Pex6PPons0
0
Pex6PALPallidum0
0
Pex6RHPRetrohippocampal region0
0
Pex6sAMYStriatum-like amygdalar nuclei0
0
Pex6STRStriatum0
0
Pex6STRdStriatum dorsal region0
0
Pex6STRvStriatum ventral region0
0
Pex6THThalamus0
0
Peptide Top

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