AutismKB 2.0

Annotation Detail for BTN2A1


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Basic Information Top
Gene Symbol:BTN2A1 ( BK14H9.1,BT2.1,BTF1,DJ3E1.1,FLJ36567 )
Gene Full Name: butyrophilin, subfamily 2, member A1
Band: 6p22.2
Quick LinksEntrez ID:11120; OMIM: 613590; Uniprot ID:BT2A1_HUMAN; ENSEMBL ID: ENSG00000112763; HGNC ID: 1136
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 body6 / 7076184
blastocyst2 / 6231932
fetus22 / 56401239
neonate2 / 3109764
infant1 / 2362042
juvenile2 / 5555635
adult76 / 193912139
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia7 / 9584273
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma9 / 71755125
non-neoplasia2 / 9725020
normal151 / 336030744
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder2 / 2975767
blood6 / 12347848
bone2 / 7165527
bone marrow1 / 4880120
brain34 / 110098930
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye8 / 21105437
heart3 / 8962633
intestine4 / 23447217
kidney16 / 21177775
larynx0 / 241450 
liver7 / 20774333
lung11 / 33697432
lymph1 / 4427022
lymph node6 / 9161065
mammary gland6 / 15327139
mouth2 / 6705229
muscle3 / 10771527
nerve3 / 15768190
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta14 / 28082549
prostate9 / 18934547
salivary gland0 / 201550 
skin5 / 21057423
spleen3 / 5395255
stomach2 / 9661920
testis6 / 33044218
thymus13 / 81131160
thyroid4 / 4747384
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203944_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts33.5
Adipocyte10.75
AdrenalCortex11.35
Adrenalgland13.25
Amygdala17.35
Appendix11.6
AtrioventricularNode7.75
BDCA4+_DentriticCells95.4
Bonemarrow10.8
BronchialEpithelialCells11.4
CD105+_Endothelial11.2
CD14+_Monocytes64.35
CD19+_BCells(neg._sel.)86.05
CD33+_Myeloid130.95
CD34+47
CD4+_Tcells190.65
CD56+_NKCells101.25
CD71+_EarlyErythroid8.45
CD8+_Tcells214.4
CardiacMyocytes22.6
Caudatenucleus9.9
Cerebellum31.65
CerebellumPeduncles31.75
CiliaryGanglion5.5
CingulateCortex11.15
Colorectaladenocarcinoma11.75
DorsalRootGanglion8.2
FetalThyroid11.65
Fetalbrain15.4
Fetalliver9.4
Fetallung25.25
GlobusPallidus7.85
Heart13.55
Hypothalamus23.1
Kidney8.45
Leukemia_chronicMyelogenousK-56212.75
Leukemia_promyelocytic-HL-6010.3
Leukemialymphoblastic(MOLT-4)16.85
Liver14.3
Lung14.1
Lymphnode44.35
Lymphoma_burkitts(Daudi)19.85
Lymphoma_burkitts(Raji)16.15
MedullaOblongata10.65
OccipitalLobe10.35
OlfactoryBulb10.15
Ovary7.9
Pancreas11.95
PancreaticIslet12.1
ParietalLobe12.15
Pituitary13.05
Placenta22.95
Pons9.9
PrefrontalCortex14.85
Prostate15.5
Salivarygland13.85
SkeletalMuscle12.4
Skin8.45
SmoothMuscle35.8
Spinalcord12.4
SubthalamicNucleus10.6
SuperiorCervicalGanglion10.6
TemporalLobe8.35
Testis9.85
TestisGermCell18.05
TestisIntersitial10.45
TestisLeydigCell11.6
TestisSeminiferousTubule9.85
Thalamus12.45
Thymus18.9
Thyroid14.2
Tongue11.15
Tonsil31.75
Trachea9.75
TrigeminalGanglion11.7
Uterus29.65
UterusCorpus10.05
WholeBlood88.65
Wholebrain22.45
colon18.5
pineal_day15.48
pineal_night20.94
retina18.8
small_intestine17.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_662_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
Amygdala9.08 ± 0.26
Basal Forebrain9.3 ± 0.15
Basal Part of Pons9.1 ± 0.14
Cerebellar Cortex9.61 ± 0.16
Cerebellar Nuclei9.35 ± 0.28
Claustrum9.33 ± 0.36
Epithalamus9.32 ± 0.22
Frontal Lobe9.26 ± 0.26
Globus Pallidus9.2 ± 0.16
Hypothalamus9.54 ± 0.17
Insula9.28 ± 0.2
Limbic Lobe9.36 ± 0.27
Mesencephalon9.41 ± 0.23
Myelencephalon9.29 ± 0.29
Occipital Lobe9.44 ± 0.33
Parietal Lobe9.3 ± 0.22
Pontine Tegmentum9.32 ± 0.26
Striatum9.08 ± 0.21
Subthalamus9.18 ± 0.21
Temporal Lobe9.27 ± 0.23
Thalamus9.23 ± 0.2
White Matter9.61 ± 0.1
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00361313 17 132 148 SYDEAILHLVVAGLGSK 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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