AutismKB 2.0

Annotation Detail for PAX5


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Basic Information Top
Gene Symbol:PAX5 ( BSAP )
Gene Full Name: paired box 5
Band: 9p13.2
Quick LinksEntrez ID:5079; OMIM: 167414; Uniprot ID:PAX5_HUMAN; ENSEMBL ID: ENSG00000196092; HGNC ID: 8619
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
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 tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal29 / 33603078
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph2 / 4427045
lymph node22 / 91610240
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206802_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.95
Adipocyte7.5
AdrenalCortex9.35
Adrenalgland6.55
Amygdala7.55
Appendix7.05
AtrioventricularNode6.05
BDCA4+_DentriticCells6.1
Bonemarrow7.5
BronchialEpithelialCells7.05
CD105+_Endothelial6.9
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)6.4
CD33+_Myeloid8.85
CD34+8.25
CD4+_Tcells7.75
CD56+_NKCells6.9
CD71+_EarlyErythroid6.8
CD8+_Tcells6.55
CardiacMyocytes9.6
Caudatenucleus6.55
Cerebellum6.05
CerebellumPeduncles10.85
CiliaryGanglion5.05
CingulateCortex7.05
Colorectaladenocarcinoma7.3
DorsalRootGanglion7.05
FetalThyroid7.5
Fetalbrain7
Fetalliver6.45
Fetallung5.8
GlobusPallidus6.25
Heart9.3
Hypothalamus7.9
Kidney6.85
Leukemia_chronicMyelogenousK-5629.2
Leukemia_promyelocytic-HL-606.35
Leukemialymphoblastic(MOLT-4)6.7
Liver10.15
Lung9.3
Lymphnode6.7
Lymphoma_burkitts(Daudi)11.5
Lymphoma_burkitts(Raji)11.75
MedullaOblongata6.55
OccipitalLobe7.15
OlfactoryBulb6.3
Ovary4.8
Pancreas7.3
PancreaticIslet8.65
ParietalLobe7.95
Pituitary9.55
Placenta6.9
Pons6.6
PrefrontalCortex8.15
Prostate11.4
Salivarygland5.8
SkeletalMuscle13.75
Skin5.75
SmoothMuscle8.15
Spinalcord8.6
SubthalamicNucleus6.6
SuperiorCervicalGanglion8.1
TemporalLobe6.25
Testis6.35
TestisGermCell6
TestisIntersitial6
TestisLeydigCell7.1
TestisSeminiferousTubule8.3
Thalamus7.55
Thymus6.85
Thyroid8.85
Tongue7.45
Tonsil7.05
Trachea6.05
TrigeminalGanglion7.1
Uterus5.9
UterusCorpus6.45
WholeBlood7.9
Wholebrain6.15
colon7.25
pineal_day8
pineal_night7.66
retina8.425
small_intestine6.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16000_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
Amygdala2.08 ± 1.07
Basal Forebrain1.56 ± 0.26
Basal Part of Pons1.22 ± 0.4
Cerebellar Cortex1.44 ± 0.76
Cerebellar Nuclei1.86 ± 0.8
Claustrum2.48 ± 1.06
Epithalamus1.26 ± 0.77
Frontal Lobe1.43 ± 0.67
Globus Pallidus2.11 ± 0.43
Hypothalamus1.62 ± 0.74
Insula1.35 ± 0.44
Limbic Lobe1.58 ± 0.65
Mesencephalon1.84 ± 0.76
Myelencephalon1.63 ± 0.68
Occipital Lobe1.7 ± 0.67
Parietal Lobe1.61 ± 0.71
Pontine Tegmentum1.62 ± 0.65
Striatum1.83 ± 0.68
Subthalamus1.65 ± 0.65
Temporal Lobe1.51 ± 0.69
Thalamus1.6 ± 0.61
White Matter2.04 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pax5CBCerebellum4.26
5.21
Pax5CTXCerebral cortex3.18
2.32
Pax5HIPHippocampal region1.6
1.37
Pax5HPFHippocampal formation1.23
0.97
Pax5HYHypothalamus0.89
0.68
Pax5LSXLateral septal complex1.1
1.48
Pax5MBMidbrain5.18
4.76
Pax5MYMedulla2.6
2.78
Pax5OLFOlfactory bulb1.89
2.57
Pax5PPons3.53
3.41
Pax5PALPallidum1.79
1.65
Pax5RHPRetrohippocampal region0.53
0.36
Pax5sAMYStriatum-like amygdalar nuclei0.25
0.17
Pax5STRStriatum1.13
0.79
Pax5STRdStriatum dorsal region1.47
1
Pax5STRvStriatum ventral region0.65
0.39
Pax5THThalamus2.33
1.71
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004099 16 41 56 IVELAHQGVRPCDISR 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