AutismKB 2.0

Annotation Detail for H2AFZ


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Basic Information Top
Gene Symbol:H2AFZ ( H2A.z,H2A/z,H2AZ,MGC117173 )
Gene Full Name: H2A histone family, member Z
Band: 4q23
Quick LinksEntrez ID:3015; OMIM: 142763; Uniprot ID:H2AZ_HUMAN; ENSEMBL ID: ENSG00000164032; HGNC ID: 4741
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 body15 / 70761211
blastocyst17 / 62319272
fetus100 / 564012177
neonate14 / 31097450
infant1 / 2362042
juvenile7 / 55556125
adult450 / 1939121232
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor9 / 12794703
bladder carcinoma8 / 17475457
breast (mammary gland) tumor37 / 94178392
cervical tumor7 / 34366203
chondrosarcoma16 / 82823193
colorectal tumor9 / 11424678
esophageal tumor2 / 17290115
gastrointestinal tumor42 / 119369351
germ cell tumor77 / 263845291
glioma23 / 106883215
head and neck tumor9 / 13630266
kidney tumor16 / 68959232
leukemia30 / 95842313
liver tumor49 / 96359508
lung tumor8 / 10312777
lymphoma47 / 71755655
non-neoplasia7 / 9725071
normal899 / 3360307267
ovarian tumor13 / 76682169
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer61 / 102680594
retinoblastoma20 / 46356431
skin tumor71 / 124949568
soft tissue/muscle tissue tumor40 / 125191319
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland12 / 33197361
ascites18 / 40015449
bladder10 / 29757336
blood122 / 123478988
bone16 / 71655223
bone marrow69 / 488011413
brain141 / 1100989128
cervix9 / 48171186
connective tissue25 / 149255167
ear2 / 16212123
embryonic tissue64 / 215722296
esophagus2 / 2020998
eye61 / 211054289
heart33 / 89626368
intestine38 / 234472162
kidney28 / 211777132
larynx1 / 2414541
liver93 / 207743447
lung54 / 336974160
lymph34 / 44270768
lymph node28 / 91610305
mammary gland39 / 153271254
mouth6 / 6705289
muscle18 / 107715167
nerve2 / 15768126
ovary16 / 102051156
pancreas20 / 21481293
parathyroid16 / 20539779
pharynx27 / 41328653
pituitary gland6 / 16585361
placenta31 / 280825110
prostate71 / 189345374
salivary gland10 / 20155496
skin102 / 210574484
spleen0 / 539520 
stomach32 / 96619331
testis105 / 330442317
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord10 / 13680730
uterus41 / 232878176
vascular15 / 51780289
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213911_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts3977.9
Adipocyte264.05
AdrenalCortex73.9
Adrenalgland184.25
Amygdala772.4
Appendix106.25
AtrioventricularNode50.6
BDCA4+_DentriticCells1109
Bonemarrow1355.7
BronchialEpithelialCells2549.05
CD105+_Endothelial2550.15
CD14+_Monocytes816.4
CD19+_BCells(neg._sel.)736.85
CD33+_Myeloid1637
CD34+3203.75
CD4+_Tcells630.55
CD56+_NKCells1169
CD71+_EarlyErythroid1363.2
CD8+_Tcells676
CardiacMyocytes2111.8
Caudatenucleus398.6
Cerebellum383.85
CerebellumPeduncles368.8
CiliaryGanglion33.2
CingulateCortex311.1
Colorectaladenocarcinoma4619.45
DorsalRootGanglion73.6
FetalThyroid230.05
Fetalbrain706.4
Fetalliver877.75
Fetallung684.3
GlobusPallidus199.75
Heart162.2
Hypothalamus504.2
Kidney248.95
Leukemia_chronicMyelogenousK-5621177.2
Leukemia_promyelocytic-HL-603558.1
Leukemialymphoblastic(MOLT-4)3788.6
Liver182.55
Lung913.4
Lymphnode583.15
Lymphoma_burkitts(Daudi)3870.1
Lymphoma_burkitts(Raji)2859.65
MedullaOblongata262.85
OccipitalLobe377.65
OlfactoryBulb179.25
Ovary181.5
Pancreas332.45
PancreaticIslet531.85
ParietalLobe287.8
Pituitary629.4
Placenta551.25
Pons155.75
PrefrontalCortex627.15
Prostate1185.1
Salivarygland406.2
SkeletalMuscle47.45
Skin90.6
SmoothMuscle1060
Spinalcord229.75
SubthalamicNucleus226.4
SuperiorCervicalGanglion47.3
TemporalLobe300.85
Testis1062.45
TestisGermCell631.45
TestisIntersitial608.75
TestisLeydigCell519.75
TestisSeminiferousTubule463.9
Thalamus265.1
Thymus2361.7
Thyroid640.65
Tongue228.95
Tonsil1119.7
Trachea374.65
TrigeminalGanglion67.6
Uterus691.3
UterusCorpus142.6
WholeBlood1461.1
Wholebrain874.3
colon2028.6
pineal_day287.42
pineal_night337.46
retina910.025
small_intestine2160.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P41570
  • 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
Amygdala8.43 ± 0.46
Basal Forebrain8.41 ± 0.37
Basal Part of Pons9.05 ± 0.33
Cerebellar Cortex9.01 ± 0.27
Cerebellar Nuclei8.26 ± 0.38
Claustrum8.45 ± 0.94
Epithalamus8.72 ± 0.25
Frontal Lobe8.89 ± 0.35
Globus Pallidus7.8 ± 0.19
Hypothalamus8.92 ± 0.28
Insula8.96 ± 0.29
Limbic Lobe8.66 ± 0.52
Mesencephalon8.4 ± 0.34
Myelencephalon8.59 ± 0.48
Occipital Lobe8.23 ± 0.56
Parietal Lobe8.71 ± 0.44
Pontine Tegmentum8.66 ± 0.39
Striatum8.35 ± 0.44
Subthalamus8.55 ± 0.39
Temporal Lobe8.81 ± 0.46
Thalamus8.45 ± 0.27
White Matter7.86 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
H2afzCBCerebellum59.26
92.68
H2afzCTXCerebral cortex100
100
H2afzHIPHippocampal region100
100
H2afzHPFHippocampal formation100
100
H2afzHYHypothalamus100
100
H2afzLSXLateral septal complex100
100
H2afzMBMidbrain100
100
H2afzMYMedulla100
100
H2afzOLFOlfactory bulb100
100
H2afzPPons100
100
H2afzPALPallidum100
100
H2afzRHPRetrohippocampal region100
100
H2afzsAMYStriatum-like amygdalar nuclei100
100
H2afzSTRStriatum100
100
H2afzSTRdStriatum dorsal region100
100
H2afzSTRvStriatum ventral region100
100
H2afzTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
H2AZ_HUMAN_1 19 1 19 AGGKAGKDSGKAKTKAVSR PRIDE
H2AZ_HUMAN_102 14 102 115 ATIAGGGVIPHIHK PRIDE
H2AZ_HUMAN_23 9 23 31 AGLQFPVGR PRIDE
H2AZ_HUMAN_92 10 92 101 GDEELDSLIK PRIDE
PAp00021324 17 86 102 HLQLAIRGDEELDSLIK 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