AutismKB 2.0

Annotation Detail for HIRA


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Basic Information Top
Gene Symbol:HIRA ( DGCR1,TUP1,TUPLE1 )
Gene Full Name: HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
Band: 22q11.21
Quick LinksEntrez ID:7290; OMIM: 600237; Uniprot ID:HIRA_HUMAN; ENSEMBL ID: ENSG00000100084,ENSG00000242259; HGNC ID: 4916
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 body7 / 7076198
blastocyst2 / 6231932
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult67 / 193912134
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) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor21 / 119369175
germ cell tumor7 / 26384526
glioma1 / 1068839
head and neck tumor14 / 136302102
kidney tumor1 / 6895914
leukemia7 / 9584273
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia9 / 9725092
normal99 / 336030729
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer7 / 10268068
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites16 / 40015399
bladder0 / 297570 
blood7 / 12347856
bone2 / 7165527
bone marrow1 / 4880120
brain39 / 110098935
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye7 / 21105433
heart5 / 8962655
intestine7 / 23447229
kidney4 / 21177718
larynx1 / 2414541
liver2 / 2077439
lung2 / 3369745
lymph0 / 442700 
lymph node3 / 9161032
mammary gland4 / 15327126
mouth11 / 67052164
muscle2 / 10771518
nerve0 / 157680 
ovary2 / 10205119
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate8 / 18934542
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach3 / 9661931
testis9 / 33044227
thymus3 / 8113136
thyroid4 / 4747384
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217427_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts51.6
Adipocyte10
AdrenalCortex9.55
Adrenalgland8.5
Amygdala44.7
Appendix8.7
AtrioventricularNode7
BDCA4+_DentriticCells63.55
Bonemarrow9.95
BronchialEpithelialCells26.3
CD105+_Endothelial198.3
CD14+_Monocytes13.45
CD19+_BCells(neg._sel.)127.4
CD33+_Myeloid60.3
CD34+120.1
CD4+_Tcells27
CD56+_NKCells346.45
CD71+_EarlyErythroid291.7
CD8+_Tcells37.45
CardiacMyocytes11.6
Caudatenucleus8.75
Cerebellum8.2
CerebellumPeduncles11.05
CiliaryGanglion6.5
CingulateCortex10
Colorectaladenocarcinoma20.3
DorsalRootGanglion7.05
FetalThyroid30.2
Fetalbrain16.1
Fetalliver59.55
Fetallung8.55
GlobusPallidus6.85
Heart14.65
Hypothalamus11.1
Kidney8.2
Leukemia_chronicMyelogenousK-562104.7
Leukemia_promyelocytic-HL-6038.35
Leukemialymphoblastic(MOLT-4)62.35
Liver12.9
Lung60.75
Lymphnode8.85
Lymphoma_burkitts(Daudi)13
Lymphoma_burkitts(Raji)76.15
MedullaOblongata8.85
OccipitalLobe8.8
OlfactoryBulb7.3
Ovary5.35
Pancreas8
PancreaticIslet15.45
ParietalLobe9.45
Pituitary10.95
Placenta8.2
Pons9.2
PrefrontalCortex12.25
Prostate36.75
Salivarygland7.75
SkeletalMuscle11.2
Skin7.15
SmoothMuscle11.6
Spinalcord10
SubthalamicNucleus8.75
SuperiorCervicalGanglion10.8
TemporalLobe8.6
Testis9.85
TestisGermCell7.8
TestisIntersitial8.25
TestisLeydigCell7.65
TestisSeminiferousTubule7.5
Thalamus10.25
Thymus85.95
Thyroid582.45
Tongue8.75
Tonsil9.4
Trachea7.15
TrigeminalGanglion9.15
Uterus21.95
UterusCorpus8.75
WholeBlood52.45
Wholebrain73.25
colon12.1
pineal_day15.28
pineal_night21.36
retina11.125
small_intestine20.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10894_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
Amygdala4.02 ± 0.79
Basal Forebrain3.57 ± 0.71
Basal Part of Pons3.38 ± 0.47
Cerebellar Cortex4.27 ± 0.38
Cerebellar Nuclei3.6 ± 0.64
Claustrum3.68 ± 0.56
Epithalamus3.61 ± 0.7
Frontal Lobe3.87 ± 0.64
Globus Pallidus2.87 ± 0.67
Hypothalamus3.77 ± 0.68
Insula3.79 ± 0.64
Limbic Lobe3.79 ± 0.61
Mesencephalon3.99 ± 0.81
Myelencephalon3.86 ± 0.66
Occipital Lobe3.57 ± 0.63
Parietal Lobe3.78 ± 0.58
Pontine Tegmentum3.75 ± 0.66
Striatum3.39 ± 0.74
Subthalamus3.52 ± 0.77
Temporal Lobe3.92 ± 0.61
Thalamus3.74 ± 0.54
White Matter3.14 ± 0.77
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
HiraCBCerebellum7.7
7.92
HiraCTXCerebral cortex18.02
12.29
HiraHIPHippocampal region14.02
13.15
HiraHPFHippocampal formation14.63
12.39
HiraHYHypothalamus2.92
2.06
HiraLSXLateral septal complex2.04
1.48
HiraMBMidbrain3.69
3.16
HiraMYMedulla9.95
10.05
HiraOLFOlfactory bulb21.71
16.18
HiraPPons4.24
4.25
HiraPALPallidum5.67
4.91
HiraRHPRetrohippocampal region16.21
11.7
HirasAMYStriatum-like amygdalar nuclei2.37
1.76
HiraSTRStriatum4.5
3.2
HiraSTRdStriatum dorsal region4.86
3.46
HiraSTRvStriatum ventral region4.91
3.42
HiraTHThalamus10.83
8.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064191 18 575 592 ATPGAPALTSMTPTAVER 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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