AutismKB 2.0

Annotation Detail for HIST1H2BK


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HIST1H2BK ( H2B/S,H2BFAiii,H2BFT,MGC131989 )
Gene Full Name: histone cluster 1, H2bk
Band: 6p22.1
Quick LinksEntrez ID:85236; OMIM: NA; Uniprot ID:H2B1K_HUMAN; ENSEMBL ID: ENSG00000197903; HGNC ID: 13954
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 body0 / 707610 
blastocyst1 / 6231916
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult82 / 193912142
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult2 / 19391211
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor7 / 34366203
chondrosarcoma11 / 82823132
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor2 / 2638457
glioma8 / 10688374
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor7 / 9635972
lung tumor5 / 10312748
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal87 / 336030725
ovarian tumor7 / 7668291
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer10 / 10268097
retinoblastoma0 / 463560 
skin tumor8 / 12494964
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor7 / 9025777
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal1 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood2 / 12347816
bone8 / 71655111
bone marrow4 / 4880181
brain12 / 110098910
cervix7 / 48171145
connective tissue12 / 14925580
ear4 / 16212246
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine13 / 23447255
kidney7 / 21177733
larynx0 / 241450 
liver9 / 20774343
lung16 / 33697447
lymph0 / 442700 
lymph node10 / 91610109
mammary gland6 / 15327139
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary7 / 10205168
pancreas8 / 21481237
parathyroid4 / 20539194
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta12 / 28082542
prostate14 / 18934573
salivary gland2 / 2015599
skin19 / 21057490
spleen0 / 539520 
stomach10 / 96619103
testis6 / 33044218
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus24 / 232878103
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208579_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts200.9
Adipocyte24.15
AdrenalCortex10.7
Adrenalgland8.5
Amygdala9.15
Appendix11.6
AtrioventricularNode8.5
BDCA4+_DentriticCells92.1
Bonemarrow41.7
BronchialEpithelialCells12.8
CD105+_Endothelial10.25
CD14+_Monocytes19.95
CD19+_BCells(neg._sel.)80.05
CD33+_Myeloid11.45
CD34+21.85
CD4+_Tcells15.8
CD56+_NKCells24.45
CD71+_EarlyErythroid9.6
CD8+_Tcells22.3
CardiacMyocytes13
Caudatenucleus9.1
Cerebellum7.95
CerebellumPeduncles11.35
CiliaryGanglion7.2
CingulateCortex10.15
Colorectaladenocarcinoma57.6
DorsalRootGanglion7.9
FetalThyroid18.5
Fetalbrain8.6
Fetalliver31.7
Fetallung32
GlobusPallidus7.4
Heart13.5
Hypothalamus9.7
Kidney8.3
Leukemia_chronicMyelogenousK-562347.55
Leukemia_promyelocytic-HL-6029.85
Leukemialymphoblastic(MOLT-4)7.45
Liver24.55
Lung37.75
Lymphnode19
Lymphoma_burkitts(Daudi)13.35
Lymphoma_burkitts(Raji)14.8
MedullaOblongata9.2
OccipitalLobe9.35
OlfactoryBulb17.55
Ovary6.7
Pancreas9.7
PancreaticIslet10.95
ParietalLobe10.6
Pituitary12.15
Placenta100.55
Pons9.5
PrefrontalCortex10.2
Prostate132.2
Salivarygland12.95
SkeletalMuscle12.3
Skin8.1
SmoothMuscle10.45
Spinalcord10.5
SubthalamicNucleus9.1
SuperiorCervicalGanglion12.25
TemporalLobe9.05
Testis16.15
TestisGermCell14.35
TestisIntersitial7.7
TestisLeydigCell10.65
TestisSeminiferousTubule17.15
Thalamus10.5
Thymus81.85
Thyroid23.05
Tongue11.8
Tonsil16.55
Trachea10.5
TrigeminalGanglion10.85
Uterus13.65
UterusCorpus9.55
WholeBlood100.65
Wholebrain8.15
colon21.8
pineal_day13.36
pineal_night14.84
retina12.275
small_intestine25.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P40470
  • 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
Amygdala7.38 ± 0.21
Basal Forebrain7.51 ± 0.35
Basal Part of Pons7.29 ± 0.25
Cerebellar Cortex7.51 ± 0.32
Cerebellar Nuclei7.61 ± 0.3
Claustrum7.31 ± 0.42
Epithalamus7.74 ± 0.3
Frontal Lobe7.25 ± 0.37
Globus Pallidus7.77 ± 0.38
Hypothalamus7.44 ± 0.6
Insula7.13 ± 0.29
Limbic Lobe7.29 ± 0.24
Mesencephalon7.24 ± 0.38
Myelencephalon7.3 ± 0.36
Occipital Lobe7.12 ± 0.25
Parietal Lobe7.2 ± 0.32
Pontine Tegmentum7.28 ± 0.34
Striatum7.52 ± 0.42
Subthalamus7.1 ± 0.1
Temporal Lobe7.28 ± 0.3
Thalamus7.18 ± 0.32
White Matter7.87 ± 0.25
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
H2B1K_HUMAN_1 29 1 29 PEPAKSAPAPKKGSKKAVTKAQKKDGKKR PRIDE
H2B1K_HUMAN_100 10 100 109 LLLPGELAKH PRIDE
H2B1K_HUMAN_100 9 100 108 LLLPGELAK PRIDE
H2B1K_HUMAN_34 10 34 43 KESYSVYVYK PRIDE
H2B1K_HUMAN_35 9 35 43 ESYSVYVYK PRIDE
H2B1K_HUMAN_47 11 47 57 QVHPDTGISSK PRIDE
H2B1K_HUMAN_58 15 58 72 AMGIMNSFVNDIFER PRIDE
H2B1K_HUMAN_80 7 80 86 LAHYNKR PRIDE
H2B1K_HUMAN_93 7 93 99 EIQTAVR PRIDE
PAp00000587 15 59 73 AMGIMNSFVNDIFER 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