AutismKB 2.0

Annotation Detail for ACACB


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Basic Information Top
Gene Symbol:ACACB ( ACC2,ACCB,HACC275 )
Gene Full Name: acetyl-CoA carboxylase beta
Band: 12q24.11
Quick LinksEntrez ID:32; OMIM: 601557; Uniprot ID:ACACB_HUMAN; ENSEMBL ID: ENSG00000076555; HGNC ID: 85
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 
blastocyst1 / 6231916
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult89 / 193912145
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) tumor27 / 94178286
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal100 / 336030729
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue14 / 131061068
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone4 / 7165555
bone marrow0 / 488010 
brain20 / 110098918
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye5 / 21105423
heart3 / 8962633
intestine7 / 23447229
kidney5 / 21177723
larynx2 / 2414582
liver2 / 2077439
lung2 / 3369745
lymph0 / 442700 
lymph node2 / 9161021
mammary gland37 / 153271241
mouth1 / 6705214
muscle3 / 10771527
nerve3 / 15768190
ovary2 / 10205119
pancreas8 / 21481237
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate3 / 18934515
salivary gland1 / 2015549
skin3 / 21057414
spleen1 / 5395218
stomach1 / 9661910
testis36 / 330442108
thymus2 / 8113124
thyroid4 / 4747384
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord2 / 13680146
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221928_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.05
Adipocyte573.45
AdrenalCortex26.25
Adrenalgland8.4
Amygdala5.9
Appendix6.85
AtrioventricularNode5.5
BDCA4+_DentriticCells6
Bonemarrow5.65
BronchialEpithelialCells4.95
CD105+_Endothelial5.3
CD14+_Monocytes5.95
CD19+_BCells(neg._sel.)5.2
CD33+_Myeloid6.95
CD34+7.5
CD4+_Tcells6.5
CD56+_NKCells5.75
CD71+_EarlyErythroid5
CD8+_Tcells6.45
CardiacMyocytes6.05
Caudatenucleus5.7
Cerebellum5.05
CerebellumPeduncles6.55
CiliaryGanglion5.95
CingulateCortex8.25
Colorectaladenocarcinoma4.9
DorsalRootGanglion4.6
FetalThyroid27.1
Fetalbrain6.15
Fetalliver5.85
Fetallung4.8
GlobusPallidus4.15
Heart6.85
Hypothalamus8.1
Kidney9.25
Leukemia_chronicMyelogenousK-5624.35
Leukemia_promyelocytic-HL-605.5
Leukemialymphoblastic(MOLT-4)4.75
Liver31.55
Lung8.45
Lymphnode5.1
Lymphoma_burkitts(Daudi)6.9
Lymphoma_burkitts(Raji)8
MedullaOblongata5.85
OccipitalLobe4.8
OlfactoryBulb7.15
Ovary3.95
Pancreas4.55
PancreaticIslet9.65
ParietalLobe6.1
Pituitary16.45
Placenta5.75
Pons6.65
PrefrontalCortex8.4
Prostate6.4
Salivarygland4.45
SkeletalMuscle12.95
Skin4.65
SmoothMuscle3.9
Spinalcord6.6
SubthalamicNucleus5.4
SuperiorCervicalGanglion7.8
TemporalLobe5.35
Testis4.8
TestisGermCell4.7
TestisIntersitial4.75
TestisLeydigCell5.65
TestisSeminiferousTubule5
Thalamus6.35
Thymus6.95
Thyroid19.35
Tongue12.15
Tonsil5.6
Trachea6.1
TrigeminalGanglion7.45
Uterus6.3
UterusCorpus5.1
WholeBlood6.05
Wholebrain4.3
colon11.85
pineal_day14.38
pineal_night8.28
retina12.35
small_intestine7.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P87791
  • 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
Amygdala3.26 ± 0.9
Basal Forebrain3.6 ± 0.5
Basal Part of Pons2.82 ± 0.47
Cerebellar Cortex3.14 ± 0.72
Cerebellar Nuclei3.18 ± 0.83
Claustrum3.07 ± 0.62
Epithalamus3.88 ± 0.77
Frontal Lobe3.12 ± 0.68
Globus Pallidus4.49 ± 0.42
Hypothalamus2.81 ± 0.4
Insula2.79 ± 0.53
Limbic Lobe3.08 ± 0.66
Mesencephalon3.39 ± 0.67
Myelencephalon3.26 ± 0.67
Occipital Lobe3.51 ± 0.59
Parietal Lobe3.16 ± 0.61
Pontine Tegmentum3.35 ± 0.7
Striatum3.4 ± 0.75
Subthalamus3.24 ± 0.45
Temporal Lobe3.13 ± 0.61
Thalamus3.63 ± 0.55
White Matter4.13 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AcacbCBCerebellum1.04
1.2
AcacbCTXCerebral cortex1.14
1.12
AcacbHIPHippocampal region1.11
1.01
AcacbHPFHippocampal formation0.86
0.71
AcacbHYHypothalamus0.51
0.33
AcacbLSXLateral septal complex0.25
0.21
AcacbMBMidbrain0.5
0.49
AcacbMYMedulla2.56
3.05
AcacbOLFOlfactory bulb2.11
2.23
AcacbPPons1.12
1.35
AcacbPALPallidum1.23
0.99
AcacbRHPRetrohippocampal region0.43
0.31
AcacbsAMYStriatum-like amygdalar nuclei0.43
0.3
AcacbSTRStriatum0.56
0.44
AcacbSTRdStriatum dorsal region0.27
0.21
AcacbSTRvStriatum ventral region1.46
0.95
AcacbTHThalamus0.83
0.77
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00006676 19 341 359 RIPVQAVWAGWGHASENPK 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