AutismKB 2.0

Annotation Detail for CHRNA1


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Basic Information Top
Gene Symbol:CHRNA1 ( ACHRA,ACHRD,CHRNA,CMS2A,FCCMS,SCCMS )
Gene Full Name: cholinergic receptor, nicotinic, alpha 1 (muscle)
Band: 2q31.1
Quick LinksEntrez ID:1134; OMIM: 100690; Uniprot ID:ACHA_HUMAN; ENSEMBL ID: ENSG00000138435; HGNC ID: 1955
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 
fetus7 / 56401212
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult7 / 19391213
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) 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 tumor5 / 13630236
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal13 / 33603073
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor8 / 12519163
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 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx1 / 2414541
liver1 / 2077434
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth7 / 67052104
muscle8 / 10771574
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206633_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.95
Adipocyte4.4
AdrenalCortex4.7
Adrenalgland3.8
Amygdala4.65
Appendix4.75
AtrioventricularNode3.85
BDCA4+_DentriticCells4.95
Bonemarrow4.7
BronchialEpithelialCells4.4
CD105+_Endothelial4.55
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid5.75
CD34+5.4
CD4+_Tcells4.55
CD56+_NKCells5.15
CD71+_EarlyErythroid4.3
CD8+_Tcells4.35
CardiacMyocytes5.8
Caudatenucleus4
Cerebellum3.65
CerebellumPeduncles5.1
CiliaryGanglion3.6
CingulateCortex4.55
Colorectaladenocarcinoma4.45
DorsalRootGanglion3.7
FetalThyroid4.3
Fetalbrain4.45
Fetalliver3.9
Fetallung3.65
GlobusPallidus3.4
Heart5.75
Hypothalamus4.85
Kidney3.75
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.6
Liver5.9
Lung4.9
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.7
Lymphoma_burkitts(Raji)6.25
MedullaOblongata4.1
OccipitalLobe4
OlfactoryBulb3.55
Ovary2.95
Pancreas3.6
PancreaticIslet4.75
ParietalLobe4.7
Pituitary5.2
Placenta4.65
Pons4.3
PrefrontalCortex5.4
Prostate5.25
Salivarygland3.6
SkeletalMuscle6.6
Skin3.8
SmoothMuscle5.1
Spinalcord4.8
SubthalamicNucleus4.05
SuperiorCervicalGanglion5.85
TemporalLobe4.1
Testis3.8
TestisGermCell3.75
TestisIntersitial3.7
TestisLeydigCell4.4
TestisSeminiferousTubule3.85
Thalamus4.55
Thymus3.55
Thyroid5.55
Tongue4.35
Tonsil4.4
Trachea3.75
TrigeminalGanglion7.15
Uterus3.65
UterusCorpus4
WholeBlood4.85
Wholebrain3.75
colon4.5
pineal_day5.58
pineal_night5.3
retina5.325
small_intestine4.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14430_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
Amygdala1.95 ± 1.04
Basal Forebrain1.53 ± 0.23
Basal Part of Pons1.49 ± 0.63
Cerebellar Cortex1.42 ± 0.72
Cerebellar Nuclei1.79 ± 0.62
Claustrum2.34 ± 1.02
Epithalamus1.31 ± 0.85
Frontal Lobe1.51 ± 0.77
Globus Pallidus2.08 ± 0.44
Hypothalamus1.52 ± 0.8
Insula1.45 ± 0.69
Limbic Lobe1.82 ± 0.94
Mesencephalon1.68 ± 0.75
Myelencephalon1.62 ± 0.62
Occipital Lobe1.7 ± 0.77
Parietal Lobe1.73 ± 0.93
Pontine Tegmentum1.68 ± 0.86
Striatum1.89 ± 0.7
Subthalamus1.98 ± 0.06
Temporal Lobe1.61 ± 0.8
Thalamus1.68 ± 0.71
White Matter1.93 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Chrna1CBCerebellum66.4
90.63
Chrna1CTXCerebral cortex100
90.66
Chrna1HIPHippocampal region54.2
62.3
Chrna1HPFHippocampal formation76.87
73.6
Chrna1HYHypothalamus83.31
66.87
Chrna1LSXLateral septal complex90.37
81.58
Chrna1MBMidbrain60.87
41.82
Chrna1MYMedulla67.84
54.6
Chrna1OLFOlfactory bulb93.62
94.71
Chrna1PPons63.02
51.46
Chrna1PALPallidum80.61
75.51
Chrna1RHPRetrohippocampal region85.45
81.98
Chrna1sAMYStriatum-like amygdalar nuclei90.97
78.86
Chrna1STRStriatum84.61
77.56
Chrna1STRdStriatum dorsal region78.97
72.78
Chrna1STRvStriatum ventral region97.28
87.91
Chrna1THThalamus67.27
50.07
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


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