AutismKB 2.0

Annotation Detail for HIF1A


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Basic Information Top
Gene Symbol:HIF1A ( HIF-1alpha,HIF1,HIF1-ALPHA,MOP1,PASD8,bHLHe78 )
Gene Full Name: hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
Band: 14q23.2
Quick LinksEntrez ID:3091; OMIM: 603348; Uniprot ID:HIF1A_HUMAN; ENSEMBL ID: ENSG00000100644; HGNC ID: 4910
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 body31 / 70761438
blastocyst16 / 62319256
fetus100 / 564012177
neonate17 / 31097546
infant0 / 236200 
juvenile8 / 55556143
adult325 / 1939121167
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma4 / 17475228
breast (mammary gland) tumor16 / 94178169
cervical tumor2 / 3436658
chondrosarcoma10 / 82823120
colorectal tumor17 / 114246148
esophageal tumor10 / 17290578
gastrointestinal tumor18 / 119369150
germ cell tumor90 / 263845341
glioma36 / 106883336
head and neck tumor63 / 136302462
kidney tumor10 / 68959145
leukemia12 / 95842125
liver tumor18 / 96359186
lung tumor11 / 103127106
lymphoma5 / 7175569
non-neoplasia28 / 97250287
normal745 / 3360307221
ovarian tumor6 / 7668278
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer13 / 102680126
retinoblastoma5 / 46356107
skin tumor21 / 124949168
soft tissue/muscle tissue tumor31 / 125191247
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland7 / 33197210
ascites10 / 40015249
bladder11 / 29757369
blood24 / 123478194
bone12 / 71655167
bone marrow11 / 48801225
brain433 / 1100989393
cervix3 / 4817162
connective tissue63 / 149255422
ear0 / 162120 
embryonic tissue60 / 215722278
esophagus10 / 20209494
eye11 / 21105452
heart2 / 8962622
intestine34 / 234472145
kidney44 / 211777207
larynx4 / 24145165
liver25 / 207743120
lung55 / 336974163
lymph2 / 4427045
lymph node13 / 91610141
mammary gland19 / 153271123
mouth50 / 67052745
muscle26 / 107715241
nerve0 / 157680 
ovary6 / 10205158
pancreas23 / 214812107
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland2 / 16585120
placenta40 / 280825142
prostate26 / 189345137
salivary gland3 / 20155148
skin44 / 210574208
spleen9 / 53952166
stomach9 / 9661993
testis170 / 330442514
thymus34 / 81131419
thyroid7 / 47473147
tonsil0 / 169990 
trachea105 / 524132003
umbilical cord2 / 13680146
uterus88 / 232878377
vascular28 / 51780540
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200989_at
Cell line Expression level Expression bar
721_B_lymphoblasts544.15
Adipocyte716.55
AdrenalCortex845.6
Adrenalgland439.95
Amygdala302.05
Appendix179.1
AtrioventricularNode50.05
BDCA4+_DentriticCells682.25
Bonemarrow112.8
BronchialEpithelialCells2268.2
CD105+_Endothelial518.9
CD14+_Monocytes770.75
CD19+_BCells(neg._sel.)754.25
CD33+_Myeloid1184.35
CD34+552.15
CD4+_Tcells487.8
CD56+_NKCells392.65
CD71+_EarlyErythroid84.15
CD8+_Tcells384.95
CardiacMyocytes1095.2
Caudatenucleus144.25
Cerebellum90.85
CerebellumPeduncles109.7
CiliaryGanglion190.25
CingulateCortex111.65
Colorectaladenocarcinoma205.4
DorsalRootGanglion114.9
FetalThyroid237.3
Fetalbrain480.35
Fetalliver161
Fetallung1096.2
GlobusPallidus42.55
Heart22.15
Hypothalamus342.65
Kidney49.2
Leukemia_chronicMyelogenousK-56235.2
Leukemia_promyelocytic-HL-60735.8
Leukemialymphoblastic(MOLT-4)202.1
Liver25.05
Lung57.95
Lymphnode478.2
Lymphoma_burkitts(Daudi)314.3
Lymphoma_burkitts(Raji)520.9
MedullaOblongata99.55
OccipitalLobe150.9
OlfactoryBulb266
Ovary319.45
Pancreas77.55
PancreaticIslet743.85
ParietalLobe94.05
Pituitary649.8
Placenta137.5
Pons53.85
PrefrontalCortex525
Prostate137.6
Salivarygland295.4
SkeletalMuscle20.6
Skin199.3
SmoothMuscle2224.3
Spinalcord383.15
SubthalamicNucleus62.8
SuperiorCervicalGanglion89.05
TemporalLobe35.25
Testis113.7
TestisGermCell227.7
TestisIntersitial98.9
TestisLeydigCell157.95
TestisSeminiferousTubule129.7
Thalamus120.95
Thymus155.4
Thyroid387.8
Tongue86.95
Tonsil381.35
Trachea270.95
TrigeminalGanglion55.8
Uterus381.2
UterusCorpus19.7
WholeBlood1018.85
Wholebrain107.65
colon660.7
pineal_day734.34
pineal_night615.98
retina255.1
small_intestine621
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P48637
  • 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
Amygdala6.73 ± 0.34
Basal Forebrain6.54 ± 0.17
Basal Part of Pons6.48 ± 0.27
Cerebellar Cortex6.98 ± 0.2
Cerebellar Nuclei6.45 ± 0.43
Claustrum6.99 ± 0.26
Epithalamus6.41 ± 0.53
Frontal Lobe6.66 ± 0.32
Globus Pallidus7.31 ± 0.36
Hypothalamus6.96 ± 0.14
Insula6.59 ± 0.19
Limbic Lobe6.66 ± 0.29
Mesencephalon6.87 ± 0.32
Myelencephalon6.78 ± 0.35
Occipital Lobe7.05 ± 0.27
Parietal Lobe6.74 ± 0.32
Pontine Tegmentum6.82 ± 0.42
Striatum6.79 ± 0.35
Subthalamus6.61 ± 0.16
Temporal Lobe6.63 ± 0.28
Thalamus6.94 ± 0.29
White Matter6.44 ± 0.07
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hif1aCBCerebellum36.2
33.74
Hif1aCTXCerebral cortex42.19
16.86
Hif1aHIPHippocampal region25.95
22.39
Hif1aHPFHippocampal formation31.51
19.77
Hif1aHYHypothalamus17.1
6.35
Hif1aLSXLateral septal complex2.19
0.84
Hif1aMBMidbrain16.13
7.73
Hif1aMYMedulla22.24
13.87
Hif1aOLFOlfactory bulb39.41
16.91
Hif1aPPons17
8.97
Hif1aPALPallidum17.33
7.8
Hif1aRHPRetrohippocampal region40.56
17.24
Hif1asAMYStriatum-like amygdalar nuclei23.19
8.84
Hif1aSTRStriatum17.23
5.84
Hif1aSTRdStriatum dorsal region14.19
4.68
Hif1aSTRvStriatum ventral region28.14
9.03
Hif1aTHThalamus15.32
8.18
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


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