AutismKB 2.0

Annotation Detail for PEX5L


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Basic Information Top
Gene Symbol:PEX5L ( PEX5R,PXR2,PXR2B )
Gene Full Name: peroxisomal biogenesis factor 5-like
Band: 3q26.33
Quick LinksEntrez ID:51555; OMIM: 611058; Uniprot ID:PEX5R_HUMAN; ENSEMBL ID: ENSG00000114757; HGNC ID: 30024
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 body0 / 707610 
blastocyst0 / 623190 
fetus8 / 56401214
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult20 / 193912110
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal43 / 336030712
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain37 / 110098933
cervix0 / 481710 
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219642_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.1
Adipocyte4.15
AdrenalCortex4.7
Adrenalgland3.6
Amygdala4.35
Appendix4.85
AtrioventricularNode3.5
BDCA4+_DentriticCells4.45
Bonemarrow4.2
BronchialEpithelialCells4.1
CD105+_Endothelial4.2
CD14+_Monocytes4.45
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.3
CD34+5.2
CD4+_Tcells4.45
CD56+_NKCells4.95
CD71+_EarlyErythroid3.95
CD8+_Tcells4
CardiacMyocytes5.55
Caudatenucleus3.75
Cerebellum3.4
CerebellumPeduncles4.8
CiliaryGanglion3.15
CingulateCortex4.3
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.3
FetalThyroid4.05
Fetalbrain4.15
Fetalliver3.65
Fetallung3.4
GlobusPallidus3.2
Heart5.55
Hypothalamus4.5
Kidney3.5
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.35
Liver5.6
Lung4.55
Lymphnode3.5
Lymphoma_burkitts(Daudi)5.4
Lymphoma_burkitts(Raji)5.95
MedullaOblongata3.8
OccipitalLobe3.75
OlfactoryBulb3.3
Ovary2.8
Pancreas3.35
PancreaticIslet4.5
ParietalLobe4.5
Pituitary4.85
Placenta4.25
Pons4
PrefrontalCortex5.2
Prostate4.85
Salivarygland3.4
SkeletalMuscle5.05
Skin3.7
SmoothMuscle4.75
Spinalcord4.6
SubthalamicNucleus3.85
SuperiorCervicalGanglion4.9
TemporalLobe3.95
Testis3.6
TestisGermCell3.5
TestisIntersitial3.55
TestisLeydigCell4.15
TestisSeminiferousTubule3.6
Thalamus4.3
Thymus3.25
Thyroid5.2
Tongue4.2
Tonsil4.05
Trachea3.5
TrigeminalGanglion4.7
Uterus3.4
UterusCorpus3.8
WholeBlood4.55
Wholebrain3.45
colon4.2
pineal_day5.16
pineal_night5.08
retina5
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P328657
  • 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
Amygdala9.54 ± 0.53
Basal Forebrain9.39 ± 0.47
Basal Part of Pons10.01 ± 0.43
Cerebellar Cortex9.06 ± 0.58
Cerebellar Nuclei10.68 ± 0.23
Claustrum9.41 ± 0.7
Epithalamus8.49 ± 1.19
Frontal Lobe10.09 ± 0.56
Globus Pallidus10.19 ± 0.66
Hypothalamus8.88 ± 0.35
Insula9.74 ± 0.23
Limbic Lobe9.93 ± 0.96
Mesencephalon9.85 ± 0.86
Myelencephalon9.85 ± 0.85
Occipital Lobe9.88 ± 0.68
Parietal Lobe10.08 ± 0.64
Pontine Tegmentum10 ± 0.76
Striatum8.78 ± 1.24
Subthalamus9.86 ± 0.73
Temporal Lobe9.97 ± 0.64
Thalamus10.2 ± 0.41
White Matter11.5 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pex2CBCerebellum87.55
100
Pex2CTXCerebral cortex100
100
Pex2HIPHippocampal region100
100
Pex2HPFHippocampal formation100
100
Pex2HYHypothalamus100
100
Pex2LSXLateral septal complex84.53
75.82
Pex2MBMidbrain100
100
Pex2MYMedulla100
100
Pex2OLFOlfactory bulb100
100
Pex2PPons100
100
Pex2PALPallidum100
100
Pex2RHPRetrohippocampal region100
100
Pex2sAMYStriatum-like amygdalar nuclei100
100
Pex2STRStriatum78.73
73.36
Pex2STRdStriatum dorsal region80.93
75.88
Pex2STRvStriatum ventral region59.89
51.29
Pex2THThalamus100
100
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