AutismKB 2.0

Annotation Detail for NACC2


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Basic Information Top
Gene Symbol:NACC2 ( BEND9,BTBD14,BTBD14A,MGC23427 )
Gene Full Name: NACC family member 2, BEN and BTB (POZ) domain containing
Band: 9q34.3
Quick LinksEntrez ID:138151; OMIM: NA; Uniprot ID:NACC2_HUMAN; ENSEMBL ID: ENSG00000148411; HGNC ID: 23846
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult10 / 19391215
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 tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor7 / 26384526
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal22 / 33603076
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor12 / 12494996
soft tissue/muscle tissue tumor1 / 1251917
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 
bone1 / 7165513
bone marrow0 / 488010 
brain3 / 11009892
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine2 / 2344728
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin12 / 21057456
spleen0 / 539520 
stomach4 / 9661941
testis9 / 33044227
thymus0 / 811310 
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: 212993_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.7
Adipocyte15.1
AdrenalCortex5.65
Adrenalgland5.75
Amygdala207.85
Appendix5.4
AtrioventricularNode4.2
BDCA4+_DentriticCells5.9
Bonemarrow5.05
BronchialEpithelialCells4.95
CD105+_Endothelial5.1
CD14+_Monocytes107.95
CD19+_BCells(neg._sel.)5.15
CD33+_Myeloid79.85
CD34+6.1
CD4+_Tcells5.5
CD56+_NKCells22.05
CD71+_EarlyErythroid4.75
CD8+_Tcells5.1
CardiacMyocytes12.05
Caudatenucleus76.15
Cerebellum154.8
CerebellumPeduncles68.95
CiliaryGanglion3.85
CingulateCortex117.05
Colorectaladenocarcinoma12.25
DorsalRootGanglion4.35
FetalThyroid5
Fetalbrain5.25
Fetalliver4.4
Fetallung4.15
GlobusPallidus12.35
Heart7.2
Hypothalamus199.45
Kidney4.55
Leukemia_chronicMyelogenousK-5624.85
Leukemia_promyelocytic-HL-604.3
Leukemialymphoblastic(MOLT-4)3.8
Liver7
Lung12
Lymphnode4.15
Lymphoma_burkitts(Daudi)6.35
Lymphoma_burkitts(Raji)7.2
MedullaOblongata79.85
OccipitalLobe72.65
OlfactoryBulb142.25
Ovary3.5
Pancreas4.6
PancreaticIslet5.45
ParietalLobe40.55
Pituitary5.95
Placenta5
Pons8.45
PrefrontalCortex313.3
Prostate27.95
Salivarygland3.9
SkeletalMuscle6
Skin4.05
SmoothMuscle30.95
Spinalcord344.7
SubthalamicNucleus39.75
SuperiorCervicalGanglion6
TemporalLobe26
Testis4.7
TestisGermCell14.6
TestisIntersitial4.35
TestisLeydigCell5
TestisSeminiferousTubule4.15
Thalamus170.6
Thymus3.75
Thyroid7.15
Tongue5.1
Tonsil4.8
Trachea4.1
TrigeminalGanglion5.25
Uterus64.05
UterusCorpus4.8
WholeBlood92.2
Wholebrain160.55
colon19.4
pineal_day18.48
pineal_night11.14
retina153
small_intestine23.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P711809
  • 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
Amygdala5.17 ± 0.63
Basal Forebrain4.68 ± 0.44
Basal Part of Pons4.8 ± 0.3
Cerebellar Cortex4.56 ± 0.55
Cerebellar Nuclei4.73 ± 0.63
Claustrum4.97 ± 0.58
Epithalamus4.05 ± 0.24
Frontal Lobe4.76 ± 0.55
Globus Pallidus5.62 ± 0.6
Hypothalamus4.52 ± 0.58
Insula4.51 ± 0.65
Limbic Lobe4.94 ± 0.62
Mesencephalon4.64 ± 0.57
Myelencephalon4.82 ± 0.62
Occipital Lobe5.03 ± 0.68
Parietal Lobe4.65 ± 0.57
Pontine Tegmentum4.63 ± 0.48
Striatum5.06 ± 0.57
Subthalamus4.7 ± 0.44
Temporal Lobe4.63 ± 0.62
Thalamus4.81 ± 0.5
White Matter4.92 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Btbd14aCBCerebellum26.26
71.79
Btbd14aCTXCerebral cortex22.34
21.49
Btbd14aHIPHippocampal region16.84
22.58
Btbd14aHPFHippocampal formation17.19
20.32
Btbd14aHYHypothalamus16.09
16.91
Btbd14aLSXLateral septal complex4.18
4.52
Btbd14aMBMidbrain39.9
52.97
Btbd14aMYMedulla50.52
87.84
Btbd14aOLFOlfactory bulb49.3
56.74
Btbd14aPPons47.27
79.29
Btbd14aPALPallidum32.81
43.85
Btbd14aRHPRetrohippocampal region17.57
17.29
Btbd14asAMYStriatum-like amygdalar nuclei16.29
16.96
Btbd14aSTRStriatum9.23
9.51
Btbd14aSTRdStriatum dorsal region7.47
7.67
Btbd14aSTRvStriatum ventral region12.02
12.05
Btbd14aTHThalamus57.84
64.42
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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