AutismKB 2.0

Annotation Detail for ACACA


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Basic Information Top
Gene Symbol:ACACA ( ACAC,ACC,ACC1,ACCA )
Gene Full Name: acetyl-CoA carboxylase alpha
Band: 17q12
Quick LinksEntrez ID:31; OMIM: 200350; Uniprot ID:ACACA_HUMAN; ENSEMBL ID: ENSG00000132142; HGNC ID: 84
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
blastocyst5 / 6231980
fetus57 / 564012101
neonate1 / 3109732
infant6 / 23620254
juvenile1 / 5555617
adult122 / 193912162
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor30 / 263845113
glioma1 / 1068839
head and neck tumor8 / 13630258
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor9 / 9635993
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal194 / 336030757
ovarian tumor6 / 7668278
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer22 / 102680214
retinoblastoma8 / 46356172
skin tumor13 / 124949104
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder2 / 2975767
blood2 / 12347816
bone6 / 7165583
bone marrow0 / 488010 
brain69 / 110098962
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus0 / 202090 
eye18 / 21105485
heart5 / 8962655
intestine22 / 23447293
kidney5 / 21177723
larynx3 / 24145124
liver9 / 20774343
lung20 / 33697459
lymph1 / 4427022
lymph node6 / 9161065
mammary gland15 / 15327197
mouth3 / 6705244
muscle12 / 107715111
nerve5 / 15768317
ovary8 / 10205178
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta9 / 28082532
prostate30 / 189345158
salivary gland0 / 201550 
skin16 / 21057475
spleen2 / 5395237
stomach3 / 9661931
testis13 / 33044239
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus9 / 23287838
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212186_at
Cell line Expression level Expression bar
721_B_lymphoblasts81.6
Adipocyte112.5
AdrenalCortex32.5
Adrenalgland54.3
Amygdala56.5
Appendix32.35
AtrioventricularNode24.1
BDCA4+_DentriticCells14.85
Bonemarrow16.7
BronchialEpithelialCells90
CD105+_Endothelial23.45
CD14+_Monocytes5.1
CD19+_BCells(neg._sel.)7.6
CD33+_Myeloid11.9
CD34+37.7
CD4+_Tcells12.1
CD56+_NKCells11.7
CD71+_EarlyErythroid14.75
CD8+_Tcells9.85
CardiacMyocytes27.65
Caudatenucleus55.15
Cerebellum26.4
CerebellumPeduncles39.5
CiliaryGanglion21.3
CingulateCortex47.25
Colorectaladenocarcinoma59.4
DorsalRootGanglion24.25
FetalThyroid26.1
Fetalbrain93.5
Fetalliver37.5
Fetallung33.05
GlobusPallidus23.65
Heart38.05
Hypothalamus72.4
Kidney25.8
Leukemia_chronicMyelogenousK-562100.65
Leukemia_promyelocytic-HL-6038.7
Leukemialymphoblastic(MOLT-4)56.35
Liver42.15
Lung36.1
Lymphnode21.6
Lymphoma_burkitts(Daudi)56.15
Lymphoma_burkitts(Raji)44.95
MedullaOblongata48.35
OccipitalLobe61.9
OlfactoryBulb32.05
Ovary21.35
Pancreas25.35
PancreaticIslet34.3
ParietalLobe54.75
Pituitary48.55
Placenta27.2
Pons44.3
PrefrontalCortex156.95
Prostate76
Salivarygland25.8
SkeletalMuscle36.05
Skin24.3
SmoothMuscle27.35
Spinalcord60.6
SubthalamicNucleus58.6
SuperiorCervicalGanglion36.3
TemporalLobe40.55
Testis27.95
TestisGermCell25.95
TestisIntersitial23
TestisLeydigCell31.1
TestisSeminiferousTubule27.85
Thalamus54.7
Thymus26
Thyroid41.05
Tongue32.25
Tonsil31.6
Trachea23.6
TrigeminalGanglion30.4
Uterus25.8
UterusCorpus28.8
WholeBlood24.65
Wholebrain52
colon28.55
pineal_day45.46
pineal_night45.64
retina50.65
small_intestine30.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P215318
  • 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
Amygdala6.33 ± 0.52
Basal Forebrain6.42 ± 0.35
Basal Part of Pons6.58 ± 0.36
Cerebellar Cortex6.73 ± 0.25
Cerebellar Nuclei6.5 ± 0.55
Claustrum6.61 ± 0.53
Epithalamus6.44 ± 0.4
Frontal Lobe6.8 ± 0.39
Globus Pallidus6.26 ± 0.46
Hypothalamus6.68 ± 0.26
Insula6.8 ± 0.35
Limbic Lobe6.57 ± 0.49
Mesencephalon6.59 ± 0.52
Myelencephalon6.57 ± 0.48
Occipital Lobe6.17 ± 0.42
Parietal Lobe6.69 ± 0.39
Pontine Tegmentum6.64 ± 0.43
Striatum6.05 ± 0.36
Subthalamus6.45 ± 0.3
Temporal Lobe6.8 ± 0.36
Thalamus6.57 ± 0.39
White Matter7.22 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AcacaCBCerebellum10.01
11.02
AcacaCTXCerebral cortex14.34
10.64
AcacaHIPHippocampal region12.01
11.69
AcacaHPFHippocampal formation9.61
8.61
AcacaHYHypothalamus5.09
4.04
AcacaLSXLateral septal complex2.19
2.76
AcacaMBMidbrain8.62
8.02
AcacaMYMedulla16.01
18.69
AcacaOLFOlfactory bulb18.11
15.16
AcacaPPons13.35
14.4
AcacaPALPallidum8.23
8.15
AcacaRHPRetrohippocampal region5.88
4.53
AcacasAMYStriatum-like amygdalar nuclei7.41
5.11
AcacaSTRStriatum3.48
2.88
AcacaSTRdStriatum dorsal region3.04
2.74
AcacaSTRvStriatum ventral region4.05
2.71
AcacaTHThalamus6.02
4.98
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ACACA_HUMAN_336 15 336 350 QVQAEVPGSPIFVMR PRIDE
PAp00003850 24 309 332 IIEEAPATIATPAVFEHMEQCAVK 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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