AutismKB 2.0

Annotation Detail for BTN3A1


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Basic Information Top
Gene Symbol:BTN3A1 ( BT3.1,BTF5,CD277,MGC141880 )
Gene Full Name: butyrophilin, subfamily 3, member A1
Band: 6p22.2
Quick LinksEntrez ID:11119; OMIM: 613593; Uniprot ID:BT3A1_HUMAN; ENSEMBL ID: ENSG00000026950; HGNC ID: 1138
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 
blastocyst0 / 623190 
fetus27 / 56401247
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult55 / 193912128
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal117 / 336030734
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood8 / 12347864
bone1 / 7165513
bone marrow5 / 48801102
brain42 / 110098938
cervix1 / 4817120
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine4 / 23447217
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung16 / 33697447
lymph0 / 442700 
lymph node4 / 9161043
mammary gland6 / 15327139
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate3 / 18934515
salivary gland0 / 201550 
skin3 / 21057414
spleen13 / 53952240
stomach0 / 966190 
testis8 / 33044224
thymus14 / 81131172
thyroid1 / 4747321
tonsil0 / 169990 
trachea13 / 52413248
umbilical cord0 / 136800 
uterus19 / 23287881
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207485_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.05
Adipocyte16.05
AdrenalCortex20.65
Adrenalgland14.25
Amygdala16.45
Appendix16.55
AtrioventricularNode12.55
BDCA4+_DentriticCells24.6
Bonemarrow20.1
BronchialEpithelialCells9.5
CD105+_Endothelial16.1
CD14+_Monocytes27.15
CD19+_BCells(neg._sel.)17.35
CD33+_Myeloid20.8
CD34+20.6
CD4+_Tcells273.45
CD56+_NKCells245.45
CD71+_EarlyErythroid15.5
CD8+_Tcells464.35
CardiacMyocytes17.35
Caudatenucleus16.1
Cerebellum13.2
CerebellumPeduncles19.6
CiliaryGanglion24.7
CingulateCortex16.7
Colorectaladenocarcinoma15.8
DorsalRootGanglion14.85
FetalThyroid15.45
Fetalbrain15.85
Fetalliver14.05
Fetallung13.05
GlobusPallidus13.8
Heart20.75
Hypothalamus17.55
Kidney13.7
Leukemia_chronicMyelogenousK-56214.7
Leukemia_promyelocytic-HL-6016
Leukemialymphoblastic(MOLT-4)13.2
Liver21.35
Lung17.65
Lymphnode19.7
Lymphoma_burkitts(Daudi)21.2
Lymphoma_burkitts(Raji)22.7
MedullaOblongata15.4
OccipitalLobe15.25
OlfactoryBulb13.55
Ovary10.85
Pancreas14.65
PancreaticIslet17.5
ParietalLobe17.5
Pituitary19.2
Placenta16.3
Pons17.95
PrefrontalCortex20.5
Prostate18.65
Salivarygland13.95
SkeletalMuscle20.45
Skin13.2
SmoothMuscle18.2
Spinalcord18.05
SubthalamicNucleus28.95
SuperiorCervicalGanglion19.75
TemporalLobe15
Testis13.85
TestisGermCell13.1
TestisIntersitial13.4
TestisLeydigCell16.15
TestisSeminiferousTubule14.05
Thalamus21.2
Thymus12.95
Thyroid19.4
Tongue16.65
Tonsil22.35
Trachea14.6
TrigeminalGanglion17
Uterus13.05
UterusCorpus14.55
WholeBlood32.05
Wholebrain13.35
colon16.15
pineal_day20.18
pineal_night19.84
retina19.3
small_intestine15.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P126282
  • 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
Amygdala5.13 ± 0.49
Basal Forebrain5.51 ± 0.33
Basal Part of Pons4.83 ± 0.61
Cerebellar Cortex5.26 ± 0.29
Cerebellar Nuclei5.43 ± 0.57
Claustrum5.4 ± 0.74
Epithalamus5.1 ± 0.46
Frontal Lobe4.87 ± 0.52
Globus Pallidus6.19 ± 0.37
Hypothalamus5.11 ± 0.6
Insula4.89 ± 0.34
Limbic Lobe5.03 ± 0.67
Mesencephalon5.46 ± 0.47
Myelencephalon5.15 ± 0.54
Occipital Lobe5.29 ± 0.54
Parietal Lobe4.93 ± 0.67
Pontine Tegmentum5.05 ± 0.56
Striatum5.14 ± 0.67
Subthalamus5.32 ± 0.56
Temporal Lobe4.9 ± 0.6
Thalamus5.06 ± 0.44
White Matter6.32 ± 0.39
Mouse Brain ISH
Peptide Top

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