AutismKB 2.0

Annotation Detail for ACBD3


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Basic Information Top
Gene Symbol:ACBD3 ( GCP60,GOCAP1,GOLPH1,PAP7 )
Gene Full Name: acyl-CoA binding domain containing 3
Band: 1q42.12
Quick LinksEntrez ID:64746; OMIM: 606809; Uniprot ID:GCP60_HUMAN; ENSEMBL ID: ENSG00000182827; HGNC ID: 15453
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 body4 / 7076156
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult80 / 193912141
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor16 / 26384560
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal97 / 336030728
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
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
bladder1 / 2975733
blood3 / 12347824
bone3 / 7165541
bone marrow0 / 488010 
brain23 / 110098920
cervix0 / 481710 
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine4 / 23447217
kidney7 / 21177733
larynx0 / 241450 
liver7 / 20774333
lung15 / 33697444
lymph1 / 4427022
lymph node5 / 9161054
mammary gland10 / 15327165
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas9 / 21481241
parathyroid4 / 20539194
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta10 / 28082535
prostate13 / 18934568
salivary gland3 / 20155148
skin8 / 21057437
spleen1 / 5395218
stomach4 / 9661941
testis17 / 33044251
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202324_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts67.05
Adipocyte18.85
AdrenalCortex16
Adrenalgland14.3
Amygdala38.9
Appendix25.45
AtrioventricularNode7.65
BDCA4+_DentriticCells71.2
Bonemarrow15.1
BronchialEpithelialCells91.8
CD105+_Endothelial19.25
CD14+_Monocytes55.45
CD19+_BCells(neg._sel.)148.8
CD33+_Myeloid36.5
CD34+36.6
CD4+_Tcells32.55
CD56+_NKCells82.2
CD71+_EarlyErythroid9.3
CD8+_Tcells35
CardiacMyocytes26.9
Caudatenucleus18
Cerebellum16.3
CerebellumPeduncles21.85
CiliaryGanglion15.5
CingulateCortex18.35
Colorectaladenocarcinoma18.7
DorsalRootGanglion15.25
FetalThyroid28.85
Fetalbrain30.2
Fetalliver21.5
Fetallung36.7
GlobusPallidus10.5
Heart15.3
Hypothalamus40.05
Kidney9.65
Leukemia_chronicMyelogenousK-56296.35
Leukemia_promyelocytic-HL-6023.85
Leukemialymphoblastic(MOLT-4)19.45
Liver13.7
Lung18.85
Lymphnode22.2
Lymphoma_burkitts(Daudi)36.5
Lymphoma_burkitts(Raji)36.1
MedullaOblongata20.2
OccipitalLobe19.2
OlfactoryBulb19.8
Ovary14.8
Pancreas24.25
PancreaticIslet67.3
ParietalLobe19.8
Pituitary53.6
Placenta52.8
Pons19.25
PrefrontalCortex33.55
Prostate58.55
Salivarygland19
SkeletalMuscle15.3
Skin22.1
SmoothMuscle117.65
Spinalcord28.8
SubthalamicNucleus12.6
SuperiorCervicalGanglion25.1
TemporalLobe13.8
Testis19.35
TestisGermCell52.95
TestisIntersitial20.2
TestisLeydigCell18.7
TestisSeminiferousTubule14.7
Thalamus19.1
Thymus14.5
Thyroid50.6
Tongue20.85
Tonsil27.35
Trachea35
TrigeminalGanglion18.1
Uterus49.55
UterusCorpus22.35
WholeBlood44.45
Wholebrain20.65
colon111.55
pineal_day79.2
pineal_night62.48
retina50.25
small_intestine67.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P171182
  • 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
Amygdala5.38 ± 0.32
Basal Forebrain5.35 ± 0.23
Basal Part of Pons5.2 ± 0.4
Cerebellar Cortex5.45 ± 0.39
Cerebellar Nuclei5.9 ± 0.38
Claustrum5.57 ± 0.44
Epithalamus5.25 ± 0.48
Frontal Lobe5.3 ± 0.41
Globus Pallidus5.62 ± 0.32
Hypothalamus5.57 ± 0.25
Insula5.22 ± 0.56
Limbic Lobe5.36 ± 0.42
Mesencephalon5.5 ± 0.46
Myelencephalon5.34 ± 0.42
Occipital Lobe5.56 ± 0.32
Parietal Lobe5.39 ± 0.39
Pontine Tegmentum5.43 ± 0.39
Striatum5.22 ± 0.39
Subthalamus5.29 ± 0.13
Temporal Lobe5.3 ± 0.37
Thalamus5.43 ± 0.33
White Matter5.16 ± 0.68
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Acbd3CBCerebellum14.98
17.78
Acbd3CTXCerebral cortex8.28
6.85
Acbd3HIPHippocampal region8.21
8.31
Acbd3HPFHippocampal formation6.43
5.95
Acbd3HYHypothalamus1.88
1.4
Acbd3LSXLateral septal complex1.49
1.34
Acbd3MBMidbrain8.43
8.51
Acbd3MYMedulla19.92
22.66
Acbd3OLFOlfactory bulb7.55
6.43
Acbd3PPons9.83
11.18
Acbd3PALPallidum3
2.74
Acbd3RHPRetrohippocampal region3.39
2.62
Acbd3sAMYStriatum-like amygdalar nuclei5.23
3.5
Acbd3STRStriatum2.4
1.91
Acbd3STRdStriatum dorsal region2.29
2.01
Acbd3STRvStriatum ventral region1.71
1.02
Acbd3THThalamus13.13
10.49
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GCP60_HUMAN_1 8 1 8 AAVLNAER PRIDE
GCP60_HUMAN_2 8 2 9 AAVLNAER PRIDE
GCP60_HUMAN_386 13 386 398 IQQDADSVITVGR PRIDE
PAp00001538 16 486 501 DCHEEVYAGSHQYPGR 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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