AutismKB 2.0

Annotation Detail for BCL11A


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Basic Information Top
Gene Symbol:BCL11A ( BCL11A-L,BCL11A-S,BCL11A-XL,CTIP1,EVI9,FLJ10173,FLJ34997,HBFQTL5,KIAA1809,ZNF856 )
Gene Full Name: B-cell CLL/lymphoma 11A (zinc finger protein)
Band: 2p16.1
Quick LinksEntrez ID:53335; OMIM: 606557; Uniprot ID:BC11A_HUMAN; ENSEMBL ID: ENSG00000119866; HGNC ID: 13221
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 body1 / 7076114
blastocyst2 / 6231932
fetus64 / 564012113
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia9 / 9584293
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma7 / 7175597
non-neoplasia0 / 972500 
normal131 / 336030738
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
ascites0 / 400150 
bladder0 / 297570 
blood10 / 12347880
bone0 / 716550 
bone marrow2 / 4880140
brain44 / 110098939
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus2 / 2020998
eye2 / 2110549
heart1 / 8962611
intestine5 / 23447221
kidney2 / 2117779
larynx1 / 2414541
liver0 / 2077430 
lung20 / 33697459
lymph4 / 4427090
lymph node34 / 91610371
mammary gland1 / 1532716
mouth3 / 6705244
muscle0 / 1077150 
nerve0 / 157680 
ovary5 / 10205148
pancreas9 / 21481241
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210347_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10
Adipocyte8.25
AdrenalCortex8.35
Adrenalgland7.2
Amygdala33.25
Appendix8.95
AtrioventricularNode5.7
BDCA4+_DentriticCells183.7
Bonemarrow10.4
BronchialEpithelialCells8.65
CD105+_Endothelial14.7
CD14+_Monocytes9.85
CD19+_BCells(neg._sel.)116.2
CD33+_Myeloid11.5
CD34+84.15
CD4+_Tcells8.2
CD56+_NKCells9.95
CD71+_EarlyErythroid13.7
CD8+_Tcells7.05
CardiacMyocytes10.3
Caudatenucleus27.45
Cerebellum7.45
CerebellumPeduncles8.9
CiliaryGanglion5.25
CingulateCortex42.5
Colorectaladenocarcinoma8.05
DorsalRootGanglion6.2
FetalThyroid7.1
Fetalbrain215.55
Fetalliver7.3
Fetallung6.2
GlobusPallidus24.8
Heart10.95
Hypothalamus10
Kidney6.95
Leukemia_chronicMyelogenousK-5626.85
Leukemia_promyelocytic-HL-6027.05
Leukemialymphoblastic(MOLT-4)22.15
Liver11.4
Lung9.6
Lymphnode14.85
Lymphoma_burkitts(Daudi)18.6
Lymphoma_burkitts(Raji)32
MedullaOblongata51.75
OccipitalLobe30.85
OlfactoryBulb6.55
Ovary5.7
Pancreas7.05
PancreaticIslet8.9
ParietalLobe39.25
Pituitary10.35
Placenta7.9
Pons35.55
PrefrontalCortex58.75
Prostate14.65
Salivarygland14.25
SkeletalMuscle17.75
Skin6.6
SmoothMuscle9.2
Spinalcord9.35
SubthalamicNucleus31.05
SuperiorCervicalGanglion11.5
TemporalLobe37.55
Testis7.65
TestisGermCell6.3
TestisIntersitial7.35
TestisLeydigCell7.45
TestisSeminiferousTubule6.9
Thalamus8.9
Thymus28.1
Thyroid9.8
Tongue8.45
Tonsil44.1
Trachea7.8
TrigeminalGanglion8.45
Uterus6.6
UterusCorpus8
WholeBlood12.85
Wholebrain53.9
colon8.8
pineal_day8.72
pineal_night8.72
retina9.575
small_intestine8.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P402588
  • 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
Amygdala9.62 ± 0.82
Basal Forebrain10.44 ± 0.46
Basal Part of Pons11.65 ± 0.21
Cerebellar Cortex8.88 ± 0.37
Cerebellar Nuclei9.05 ± 0.56
Claustrum8.78 ± 1.06
Epithalamus8.84 ± 0.73
Frontal Lobe9.98 ± 0.67
Globus Pallidus9.1 ± 1.72
Hypothalamus9.46 ± 0.71
Insula10.12 ± 0.5
Limbic Lobe10.56 ± 0.94
Mesencephalon9.51 ± 0.79
Myelencephalon9.9 ± 1.02
Occipital Lobe10.15 ± 0.7
Parietal Lobe10.38 ± 0.59
Pontine Tegmentum9.58 ± 0.79
Striatum10.29 ± 1.04
Subthalamus11.29 ± 0.2
Temporal Lobe10.35 ± 0.58
Thalamus9.13 ± 0.7
White Matter7.33 ± 1.65
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bcl11aCBCerebellum13.99
27.99
Bcl11aCTXCerebral cortex81.47
79.84
Bcl11aHIPHippocampal region85.71
100
Bcl11aHPFHippocampal formation86.15
100
Bcl11aHYHypothalamus22.59
22.3
Bcl11aLSXLateral septal complex42.9
36.83
Bcl11aMBMidbrain18.34
16.82
Bcl11aMYMedulla22.88
28.66
Bcl11aOLFOlfactory bulb77.96
84.88
Bcl11aPPons20.55
21.41
Bcl11aPALPallidum41.94
42.39
Bcl11aRHPRetrohippocampal region87.95
91.95
Bcl11asAMYStriatum-like amygdalar nuclei60.34
53.31
Bcl11aSTRStriatum59.22
50.35
Bcl11aSTRdStriatum dorsal region52.73
42.57
Bcl11aSTRvStriatum ventral region70.93
67.77
Bcl11aTHThalamus20.91
19.71
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00482547 14 197 210 IYLESEHGSPLTPR 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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