AutismKB 2.0

Annotation Detail for ACAA1


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Basic Information Top
Gene Symbol:ACAA1 ( ACAA,PTHIO,THIO )
Gene Full Name: acetyl-CoA acyltransferase 1
Band: 3p22.2
Quick LinksEntrez ID:30; OMIM: 604054; Uniprot ID:THIK_HUMAN; ENSEMBL ID: ENSG00000060971; HGNC ID: 82
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 body3 / 7076142
blastocyst3 / 6231948
fetus55 / 56401297
neonate3 / 3109796
infant1 / 2362042
juvenile8 / 55556143
adult218 / 1939121112
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) tumor5 / 9417853
cervical tumor4 / 34366116
chondrosarcoma7 / 8282384
colorectal tumor16 / 114246140
esophageal tumor2 / 17290115
gastrointestinal tumor17 / 119369142
germ cell tumor21 / 26384579
glioma15 / 106883140
head and neck tumor5 / 13630236
kidney tumor5 / 6895972
leukemia17 / 95842177
liver tumor12 / 96359124
lung tumor17 / 103127164
lymphoma12 / 71755167
non-neoplasia14 / 97250143
normal395 / 3360307117
ovarian tumor8 / 76682104
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer20 / 102680194
retinoblastoma1 / 4635621
skin tumor18 / 124949144
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites11 / 40015274
bladder2 / 2975767
blood23 / 123478186
bone10 / 71655139
bone marrow1 / 4880120
brain108 / 110098998
cervix6 / 48171124
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus2 / 2020998
eye9 / 21105442
heart15 / 89626167
intestine44 / 234472187
kidney26 / 211777122
larynx2 / 2414582
liver56 / 207743269
lung41 / 336974121
lymph6 / 44270135
lymph node5 / 9161054
mammary gland12 / 15327178
mouth0 / 670520 
muscle4 / 10771537
nerve2 / 15768126
ovary14 / 102051137
pancreas24 / 214812111
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta46 / 280825163
prostate34 / 189345179
salivary gland0 / 201550 
skin24 / 210574113
spleen15 / 53952278
stomach13 / 96619134
testis6 / 33044218
thymus12 / 81131147
thyroid3 / 4747363
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord2 / 13680146
uterus23 / 23287898
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214274_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts94.7
Adipocyte110.85
AdrenalCortex109.35
Adrenalgland86.1
Amygdala111
Appendix31.15
AtrioventricularNode24.45
BDCA4+_DentriticCells418.15
Bonemarrow58.5
BronchialEpithelialCells186.05
CD105+_Endothelial99.9
CD14+_Monocytes539.65
CD19+_BCells(neg._sel.)165.5
CD33+_Myeloid429.55
CD34+125.75
CD4+_Tcells237.55
CD56+_NKCells330.5
CD71+_EarlyErythroid25.4
CD8+_Tcells277.85
CardiacMyocytes90.25
Caudatenucleus110.2
Cerebellum48.7
CerebellumPeduncles73.1
CiliaryGanglion33
CingulateCortex101.2
Colorectaladenocarcinoma83.8
DorsalRootGanglion22.2
FetalThyroid96.25
Fetalbrain76.4
Fetalliver315
Fetallung167.95
GlobusPallidus70.25
Heart317.55
Hypothalamus266.15
Kidney754.4
Leukemia_chronicMyelogenousK-56237.2
Leukemia_promyelocytic-HL-6033.35
Leukemialymphoblastic(MOLT-4)66.2
Liver2203.3
Lung234.1
Lymphnode147.95
Lymphoma_burkitts(Daudi)39.55
Lymphoma_burkitts(Raji)65.6
MedullaOblongata51.8
OccipitalLobe70.65
OlfactoryBulb96.25
Ovary17.4
Pancreas69.4
PancreaticIslet89
ParietalLobe78.35
Pituitary70.4
Placenta53.2
Pons36.8
PrefrontalCortex177.3
Prostate511.5
Salivarygland31.1
SkeletalMuscle50.45
Skin34.8
SmoothMuscle59.3
Spinalcord156.5
SubthalamicNucleus58.55
SuperiorCervicalGanglion25.4
TemporalLobe38.85
Testis69.65
TestisGermCell72.95
TestisIntersitial26.8
TestisLeydigCell36.5
TestisSeminiferousTubule36.7
Thalamus131.3
Thymus108.1
Thyroid326.2
Tongue66
Tonsil50.3
Trachea47.95
TrigeminalGanglion65.1
Uterus62.65
UterusCorpus34.8
WholeBlood238.45
Wholebrain179.35
colon231.9
pineal_day149.48
pineal_night136.36
retina152.275
small_intestine735.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11701_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
Amygdala6.36 ± 0.7
Basal Forebrain6.84 ± 0.2
Basal Part of Pons7 ± 0.6
Cerebellar Cortex6.77 ± 0.51
Cerebellar Nuclei6.71 ± 0.48
Claustrum5.9 ± 0.75
Epithalamus7.01 ± 0.65
Frontal Lobe6.86 ± 0.5
Globus Pallidus7.33 ± 0.24
Hypothalamus6.93 ± 0.41
Insula6.81 ± 0.29
Limbic Lobe6.49 ± 0.56
Mesencephalon6.79 ± 0.48
Myelencephalon6.7 ± 0.54
Occipital Lobe6.46 ± 0.49
Parietal Lobe6.64 ± 0.53
Pontine Tegmentum6.66 ± 0.42
Striatum6.63 ± 0.41
Subthalamus6.37 ± 0.74
Temporal Lobe6.79 ± 0.48
Thalamus6.87 ± 0.46
White Matter7.55 ± 0.32
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001845 28 75 102 DVNLRPEQLGDICVGNVLQPGAGAIMAR Peptide Atlas
THIK_HUMAN_239 21 239 259 SITVTQDEGIRPSTTMEGLAK PRIDE
THIK_HUMAN_27 18 27 44 LSGAPQASAADVVVVHGR PRIDE
THIK_HUMAN_292 13 292 304 AEELGLPILGVLR PRIDE
THIK_HUMAN_386 11 386 396 QVITLLNELKR PRIDE
THIK_HUMAN_53 21 53 73 GGFKDTTPDELLSAVMTAVLK PRIDE

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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