AutismKB 2.0

Annotation Detail for ACCN2


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Basic Information Top
Gene Symbol:ACCN2 ( ASIC,ASIC1,ASIC1A,BNaC2,hBNaC2 )
Gene Full Name: amiloride-sensitive cation channel 2, neuronal
Band: 12q12
Quick LinksEntrez ID:41; OMIM: 602866; Uniprot ID:ACCN2_HUMAN; ENSEMBL ID: ENSG00000110881; HGNC ID:
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
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult16 / 19391218
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma15 / 106883140
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal44 / 336030713
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
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 
bone2 / 7165527
bone marrow0 / 488010 
brain47 / 110098942
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis2 / 3304426
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205156_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.95
Adipocyte15.15
AdrenalCortex17.6
Adrenalgland12.7
Amygdala16.6
Appendix15.25
AtrioventricularNode16.4
BDCA4+_DentriticCells11.85
Bonemarrow14.9
BronchialEpithelialCells15.2
CD105+_Endothelial14
CD14+_Monocytes15.85
CD19+_BCells(neg._sel.)14.9
CD33+_Myeloid16.45
CD34+16.9
CD4+_Tcells12.4
CD56+_NKCells16.05
CD71+_EarlyErythroid13.85
CD8+_Tcells12.3
CardiacMyocytes18.55
Caudatenucleus33.6
Cerebellum30.55
CerebellumPeduncles28
CiliaryGanglion12.45
CingulateCortex37.1
Colorectaladenocarcinoma15.5
DorsalRootGanglion17.85
FetalThyroid14.55
Fetalbrain39.9
Fetalliver13.15
Fetallung10.6
GlobusPallidus23
Heart18.35
Hypothalamus52.75
Kidney15.7
Leukemia_chronicMyelogenousK-56213.6
Leukemia_promyelocytic-HL-6013.05
Leukemialymphoblastic(MOLT-4)15.1
Liver16.3
Lung10.6
Lymphnode13.35
Lymphoma_burkitts(Daudi)19.45
Lymphoma_burkitts(Raji)21.25
MedullaOblongata38.2
OccipitalLobe31.8
OlfactoryBulb12.55
Ovary10.05
Pancreas12.25
PancreaticIslet14.4
ParietalLobe21.35
Pituitary17.95
Placenta15.35
Pons35.9
PrefrontalCortex20.85
Prostate15.05
Salivarygland16.55
SkeletalMuscle23
Skin12
SmoothMuscle15.45
Spinalcord33.75
SubthalamicNucleus20.15
SuperiorCervicalGanglion27.55
TemporalLobe31.1
Testis11.3
TestisGermCell10.6
TestisIntersitial11.9
TestisLeydigCell15.1
TestisSeminiferousTubule13
Thalamus43.25
Thymus10.25
Thyroid11.15
Tongue14.8
Tonsil14.65
Trachea13.1
TrigeminalGanglion16.2
Uterus9.45
UterusCorpus13.5
WholeBlood13.4
Wholebrain15.95
colon14.3
pineal_day16.06
pineal_night12.76
retina19.5
small_intestine14.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12445_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
Amygdala5.19 ± 0.46
Basal Forebrain5.45 ± 0.26
Basal Part of Pons4.92 ± 0.36
Cerebellar Cortex5.12 ± 0.29
Cerebellar Nuclei5.06 ± 0.51
Claustrum4.9 ± 0.47
Epithalamus4.83 ± 0.59
Frontal Lobe5.04 ± 0.47
Globus Pallidus6.03 ± 0.4
Hypothalamus5.18 ± 0.51
Insula4.96 ± 0.49
Limbic Lobe5.07 ± 0.48
Mesencephalon5.52 ± 0.45
Myelencephalon5.3 ± 0.52
Occipital Lobe5.6 ± 0.52
Parietal Lobe5.2 ± 0.41
Pontine Tegmentum5.39 ± 0.46
Striatum6.19 ± 0.44
Subthalamus5.04 ± 0.6
Temporal Lobe5.21 ± 0.37
Thalamus5.74 ± 0.4
White Matter5.37 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Accn2CBCerebellum100
100
Accn2CTXCerebral cortex100
100
Accn2HIPHippocampal region71.25
100
Accn2HPFHippocampal formation91.72
100
Accn2HYHypothalamus92.59
88.12
Accn2LSXLateral septal complex70.35
59.92
Accn2MBMidbrain100
100
Accn2MYMedulla100
100
Accn2OLFOlfactory bulb100
100
Accn2PPons77.43
92.85
Accn2PALPallidum94.08
100
Accn2RHPRetrohippocampal region100
100
Accn2sAMYStriatum-like amygdalar nuclei100
100
Accn2STRStriatum100
100
Accn2STRdStriatum dorsal region100
100
Accn2STRvStriatum ventral region100
100
Accn2THThalamus91.26
89.52
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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