AutismKB 2.0

Annotation Detail for H2AFV


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Basic Information Top
Gene Symbol:H2AFV ( FLJ26479,H2AV,MGC10170,MGC10831,MGC1947 )
Gene Full Name: H2A histone family, member V
Band: 7p13
Quick LinksEntrez ID:94239; OMIM: NA; Uniprot ID:H2AV_HUMAN; ENSEMBL ID: ENSG00000105968; HGNC ID: 20664
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 body8 / 70761113
blastocyst6 / 6231996
fetus104 / 564012184
neonate1 / 3109732
infant3 / 23620127
juvenile6 / 55556107
adult190 / 193912197
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma2 / 17475114
breast (mammary gland) tumor11 / 94178116
cervical tumor7 / 34366203
chondrosarcoma9 / 82823108
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor25 / 26384594
glioma27 / 106883252
head and neck tumor10 / 13630273
kidney tumor12 / 68959174
leukemia12 / 95842125
liver tumor7 / 9635972
lung tumor18 / 103127174
lymphoma17 / 71755236
non-neoplasia5 / 9725051
normal374 / 3360307111
ovarian tumor6 / 7668278
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer6 / 10268058
retinoblastoma8 / 46356172
skin tumor23 / 124949184
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland6 / 33197180
ascites1 / 4001524
bladder0 / 297570 
blood8 / 12347864
bone10 / 71655139
bone marrow4 / 4880181
brain135 / 1100989122
cervix8 / 48171166
connective tissue8 / 14925553
ear6 / 16212370
embryonic tissue22 / 215722101
esophagus0 / 202090 
eye27 / 211054127
heart17 / 89626189
intestine32 / 234472136
kidney38 / 211777179
larynx2 / 2414582
liver20 / 20774396
lung53 / 336974157
lymph12 / 44270271
lymph node14 / 91610152
mammary gland21 / 153271137
mouth2 / 6705229
muscle5 / 10771546
nerve2 / 15768126
ovary9 / 10205188
pancreas24 / 214812111
parathyroid7 / 20539340
pharynx6 / 41328145
pituitary gland1 / 1658560
placenta10 / 28082535
prostate11 / 18934558
salivary gland3 / 20155148
skin35 / 210574166
spleen0 / 539520 
stomach8 / 9661982
testis24 / 33044272
thymus7 / 8113186
thyroid3 / 4747363
tonsil7 / 16999411
trachea10 / 52413190
umbilical cord1 / 1368073
uterus34 / 232878145
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212205_at
Cell line Expression level Expression bar
721_B_lymphoblasts141.1
Adipocyte37.8
AdrenalCortex23.1
Adrenalgland50.65
Amygdala370.15
Appendix33.7
AtrioventricularNode14.35
BDCA4+_DentriticCells224.95
Bonemarrow48.8
BronchialEpithelialCells17.15
CD105+_Endothelial390.7
CD14+_Monocytes39.75
CD19+_BCells(neg._sel.)77.6
CD33+_Myeloid87.8
CD34+338.3
CD4+_Tcells151.7
CD56+_NKCells116.05
CD71+_EarlyErythroid351.15
CD8+_Tcells198.7
CardiacMyocytes42.25
Caudatenucleus165.2
Cerebellum198.1
CerebellumPeduncles214.7
CiliaryGanglion31.35
CingulateCortex173.8
Colorectaladenocarcinoma239.35
DorsalRootGanglion36.2
FetalThyroid48.85
Fetalbrain185.25
Fetalliver85.35
Fetallung64
GlobusPallidus77.4
Heart11.65
Hypothalamus269.1
Kidney42.15
Leukemia_chronicMyelogenousK-56235.95
Leukemia_promyelocytic-HL-6039.95
Leukemialymphoblastic(MOLT-4)152.45
Liver13.8
Lung44.5
Lymphnode71.3
Lymphoma_burkitts(Daudi)116.45
Lymphoma_burkitts(Raji)30.15
MedullaOblongata165.3
OccipitalLobe157.15
OlfactoryBulb161.9
Ovary21.15
Pancreas48.75
PancreaticIslet91.5
ParietalLobe84.6
Pituitary89.2
Placenta28.8
Pons75.85
PrefrontalCortex592.5
Prostate178.8
Salivarygland22.55
SkeletalMuscle10.5
Skin17.85
SmoothMuscle30
Spinalcord269.9
SubthalamicNucleus130.3
SuperiorCervicalGanglion44.1
TemporalLobe84.7
Testis20
TestisGermCell22.3
TestisIntersitial22.15
TestisLeydigCell10.4
TestisSeminiferousTubule10.15
Thalamus128.4
Thymus98.7
Thyroid431.9
Tongue19.35
Tonsil45.95
Trachea65.45
TrigeminalGanglion30.7
Uterus254.95
UterusCorpus43.65
WholeBlood76.55
Wholebrain235.7
colon296.7
pineal_day250.28
pineal_night243.54
retina466.75
small_intestine287.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5747_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
Amygdala8.43 ± 0.24
Basal Forebrain8.63 ± 0.07
Basal Part of Pons8.32 ± 0.33
Cerebellar Cortex8.66 ± 0.21
Cerebellar Nuclei8.57 ± 0.28
Claustrum8.14 ± 0.38
Epithalamus8.79 ± 0.3
Frontal Lobe8.45 ± 0.26
Globus Pallidus9.03 ± 0.23
Hypothalamus8.55 ± 0.14
Insula8.46 ± 0.28
Limbic Lobe8.24 ± 0.27
Mesencephalon8.53 ± 0.29
Myelencephalon8.49 ± 0.26
Occipital Lobe8.31 ± 0.25
Parietal Lobe8.45 ± 0.27
Pontine Tegmentum8.54 ± 0.22
Striatum8.56 ± 0.32
Subthalamus8.39 ± 0.36
Temporal Lobe8.51 ± 0.23
Thalamus8.58 ± 0.25
White Matter8.9 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
H2afvCBCerebellum2.37
4.61
H2afvCTXCerebral cortex1.15
1.45
H2afvHIPHippocampal region1.15
1.72
H2afvHPFHippocampal formation0.94
1.28
H2afvHYHypothalamus0.38
0.49
H2afvLSXLateral septal complex0.78
0.76
H2afvMBMidbrain0.33
0.42
H2afvMYMedulla0.62
1.03
H2afvOLFOlfactory bulb0.85
0.63
H2afvPPons0.37
0.54
H2afvPALPallidum0.63
0.55
H2afvRHPRetrohippocampal region0.61
0.7
H2afvsAMYStriatum-like amygdalar nuclei0.41
0.54
H2afvSTRStriatum0.79
0.91
H2afvSTRdStriatum dorsal region0.72
0.73
H2afvSTRvStriatum ventral region0.78
1.3
H2afvTHThalamus0.57
0.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
H2AV_HUMAN_1 19 1 19 AGGKAGKDSGKAKAKAVSR PRIDE
H2AV_HUMAN_102 14 102 115 ATIAGGGVIPHIHK PRIDE
H2AV_HUMAN_23 9 23 31 AGLQFPVGR 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


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