AutismKB 2.0

Annotation Detail for HPRT1


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Basic Information Top
Gene Symbol:HPRT1 ( HGPRT,HPRT )
Gene Full Name: hypoxanthine phosphoribosyltransferase 1
Band: Xq26.2-q26.3
Quick LinksEntrez ID:3251; OMIM: 308000; Uniprot ID:HPRT_HUMAN; ENSEMBL ID: ENSG00000165704; HGNC ID: 5157
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 body1 / 7076114
blastocyst2 / 6231932
fetus19 / 56401233
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult99 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor7 / 34366203
chondrosarcoma6 / 8282372
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor11 / 26384541
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor11 / 96359114
lung tumor5 / 10312748
lymphoma5 / 7175569
non-neoplasia5 / 9725051
normal153 / 336030745
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer3 / 10268029
retinoblastoma6 / 46356129
skin tumor12 / 12494996
soft tissue/muscle tissue tumor22 / 125191175
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood7 / 12347856
bone6 / 7165583
bone marrow4 / 4880181
brain41 / 110098937
cervix8 / 48171166
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye11 / 21105452
heart1 / 8962611
intestine2 / 2344728
kidney12 / 21177756
larynx0 / 241450 
liver13 / 20774362
lung15 / 33697444
lymph2 / 4427045
lymph node18 / 91610196
mammary gland6 / 15327139
mouth1 / 6705214
muscle2 / 10771518
nerve1 / 1576863
ovary3 / 10205129
pancreas18 / 21481283
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland6 / 16585361
placenta7 / 28082524
prostate5 / 18934526
salivary gland0 / 201550 
skin15 / 21057471
spleen3 / 5395255
stomach3 / 9661931
testis19 / 33044257
thymus0 / 811310 
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord1 / 1368073
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202854_at
Cell line Expression level Expression bar
721_B_lymphoblasts1089.9
Adipocyte28.7
AdrenalCortex15.85
Adrenalgland45.65
Amygdala883.95
Appendix14.4
AtrioventricularNode5.1
BDCA4+_DentriticCells203.4
Bonemarrow74.3
BronchialEpithelialCells249.55
CD105+_Endothelial1084.15
CD14+_Monocytes184.2
CD19+_BCells(neg._sel.)311.35
CD33+_Myeloid325.4
CD34+1108.1
CD4+_Tcells96.9
CD56+_NKCells288.25
CD71+_EarlyErythroid410.7
CD8+_Tcells107.2
CardiacMyocytes71.05
Caudatenucleus110.8
Cerebellum72.35
CerebellumPeduncles111.85
CiliaryGanglion18.3
CingulateCortex187.2
Colorectaladenocarcinoma439.05
DorsalRootGanglion16.4
FetalThyroid36.55
Fetalbrain69.45
Fetalliver74.45
Fetallung35.15
GlobusPallidus83.3
Heart11.85
Hypothalamus303.95
Kidney32.05
Leukemia_chronicMyelogenousK-562122.05
Leukemia_promyelocytic-HL-60633.15
Leukemialymphoblastic(MOLT-4)386.85
Liver18.75
Lung33.45
Lymphnode27.6
Lymphoma_burkitts(Daudi)431.95
Lymphoma_burkitts(Raji)571.55
MedullaOblongata177.85
OccipitalLobe232.85
OlfactoryBulb11.55
Ovary39.15
Pancreas49.65
PancreaticIslet183.9
ParietalLobe132.4
Pituitary158.85
Placenta22.7
Pons94
PrefrontalCortex376.4
Prostate91.2
Salivarygland23.15
SkeletalMuscle7.2
Skin9.05
SmoothMuscle132.4
Spinalcord39
SubthalamicNucleus227.4
SuperiorCervicalGanglion14.4
TemporalLobe216.6
Testis425.05
TestisGermCell655.15
TestisIntersitial214.35
TestisLeydigCell124.45
TestisSeminiferousTubule229.85
Thalamus171.9
Thymus89.35
Thyroid128.1
Tongue18.9
Tonsil54.95
Trachea23.15
TrigeminalGanglion13.1
Uterus43.35
UterusCorpus8.6
WholeBlood96.85
Wholebrain664.7
colon157.85
pineal_day1272.74
pineal_night1146.22
retina106.525
small_intestine230.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8877_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
Amygdala9.98 ± 0.3
Basal Forebrain9.45 ± 0.33
Basal Part of Pons10.33 ± 0.3
Cerebellar Cortex9.78 ± 0.22
Cerebellar Nuclei9.43 ± 0.58
Claustrum10.09 ± 0.33
Epithalamus8.98 ± 0.84
Frontal Lobe9.99 ± 0.37
Globus Pallidus8.44 ± 0.61
Hypothalamus10.2 ± 0.44
Insula10.04 ± 0.22
Limbic Lobe9.89 ± 0.52
Mesencephalon9.72 ± 0.67
Myelencephalon9.71 ± 0.61
Occipital Lobe9.43 ± 0.56
Parietal Lobe9.9 ± 0.42
Pontine Tegmentum9.73 ± 0.49
Striatum9.04 ± 0.64
Subthalamus10.03 ± 0.36
Temporal Lobe10.03 ± 0.3
Thalamus9.62 ± 0.36
White Matter7.92 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hprt1CBCerebellum36.25
62.17
Hprt1CTXCerebral cortex100
100
Hprt1HIPHippocampal region79.75
100
Hprt1HPFHippocampal formation99.8
100
Hprt1HYHypothalamus100
100
Hprt1LSXLateral septal complex100
100
Hprt1MBMidbrain100
100
Hprt1MYMedulla76.45
100
Hprt1OLFOlfactory bulb100
100
Hprt1PPons76
100
Hprt1PALPallidum98.47
100
Hprt1RHPRetrohippocampal region100
100
Hprt1sAMYStriatum-like amygdalar nuclei100
100
Hprt1STRStriatum100
92.26
Hprt1STRdStriatum dorsal region97.21
84.32
Hprt1STRvStriatum ventral region99.08
79.96
Hprt1THThalamus81.48
92.41
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HPRT_HUMAN_0 0 0 0 FFADLLDYIK PRIDE
HPRT_HUMAN_0 0 0 0 TMQTLLSLVR PRIDE
HPRT_HUMAN_0 0 0 0 VIGGDDLSTLTGK PRIDE
HPRT_HUMAN_115 13 115 127 VIGGDDLSTLTGK PRIDE
HPRT_HUMAN_128 13 128 140 NVLIVEDIIDTGK PRIDE
HPRT_HUMAN_141 10 141 150 TMQTLLSLVR PRIDE
HPRT_HUMAN_200 13 200 212 DLNHVCVISETGK PRIDE
HPRT_HUMAN_34 11 34 44 VFIPHGLIMDR PRIDE
HPRT_HUMAN_34 14 34 47 VFIPHGLIMDRTER PRIDE
HPRT_HUMAN_69 14 69 82 GGYKFFADLLDYIK PRIDE
HPRT_HUMAN_73 10 73 82 FFADLLDYIK PRIDE
HPRT_HUMAN_91 10 91 100 SIPMTVDFIR PRIDE
PAp00001720 13 201 213 DLNHVCVISETGK 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


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