AutismKB 2.0

Annotation Detail for ACAP2


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Basic Information Top
Gene Symbol:ACAP2 ( CENTB2,CNT-B2,KIAA0041 )
Gene Full Name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
Band: 3q29
Quick LinksEntrez ID:23527; OMIM: 607766; Uniprot ID:ACAP2_HUMAN; ENSEMBL ID: ENSG00000114331; HGNC ID: 16469
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 body8 / 70761113
blastocyst3 / 6231948
fetus32 / 56401256
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult93 / 193912147
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma14 / 82823169
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor13 / 26384549
glioma2 / 10688318
head and neck tumor10 / 13630273
kidney tumor1 / 6895914
leukemia14 / 95842146
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal159 / 336030747
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor5 / 12494940
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 tissue2 / 13106152
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood6 / 12347848
bone13 / 71655181
bone marrow1 / 4880120
brain24 / 110098921
cervix3 / 4817162
connective tissue8 / 14925553
ear3 / 16212185
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine11 / 23447246
kidney7 / 21177733
larynx0 / 241450 
liver6 / 20774328
lung11 / 33697432
lymph1 / 4427022
lymph node27 / 91610294
mammary gland3 / 15327119
mouth8 / 67052119
muscle4 / 10771537
nerve0 / 157680 
ovary3 / 10205129
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate5 / 18934526
salivary gland1 / 2015549
skin19 / 21057490
spleen3 / 5395255
stomach3 / 9661931
testis17 / 33044251
thymus11 / 81131135
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus11 / 23287847
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212476_at
Cell line Expression level Expression bar
721_B_lymphoblasts163.4
Adipocyte30.15
AdrenalCortex30.2
Adrenalgland21.4
Amygdala80.65
Appendix28.6
AtrioventricularNode23.35
BDCA4+_DentriticCells327.7
Bonemarrow29.7
BronchialEpithelialCells37.25
CD105+_Endothelial209.4
CD14+_Monocytes486.85
CD19+_BCells(neg._sel.)277.55
CD33+_Myeloid745.9
CD34+142.45
CD4+_Tcells192.1
CD56+_NKCells405.25
CD71+_EarlyErythroid27.7
CD8+_Tcells244.45
CardiacMyocytes42.3
Caudatenucleus24.65
Cerebellum18.85
CerebellumPeduncles29.6
CiliaryGanglion20.8
CingulateCortex24.75
Colorectaladenocarcinoma66.75
DorsalRootGanglion22
FetalThyroid23.25
Fetalbrain56.4
Fetalliver25.7
Fetallung33.65
GlobusPallidus20.2
Heart34.85
Hypothalamus48.55
Kidney18.05
Leukemia_chronicMyelogenousK-56224
Leukemia_promyelocytic-HL-6032.35
Leukemialymphoblastic(MOLT-4)35.65
Liver37.05
Lung26.05
Lymphnode87.7
Lymphoma_burkitts(Daudi)38
Lymphoma_burkitts(Raji)47.75
MedullaOblongata21.05
OccipitalLobe25.7
OlfactoryBulb20.1
Ovary19.7
Pancreas22.1
PancreaticIslet30.7
ParietalLobe22.85
Pituitary34.4
Placenta21.15
Pons20.65
PrefrontalCortex69
Prostate28.25
Salivarygland26.4
SkeletalMuscle34.2
Skin23.2
SmoothMuscle40.3
Spinalcord36.4
SubthalamicNucleus20.6
SuperiorCervicalGanglion41.75
TemporalLobe18.65
Testis17.65
TestisGermCell26.65
TestisIntersitial24.65
TestisLeydigCell23.7
TestisSeminiferousTubule21.1
Thalamus28.75
Thymus22.5
Thyroid115.15
Tongue29.45
Tonsil31.1
Trachea34.2
TrigeminalGanglion30.8
Uterus114.8
UterusCorpus25.8
WholeBlood761.05
Wholebrain20.5
colon154.05
pineal_day35.2
pineal_night39.18
retina91.925
small_intestine166.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P211773
  • 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
Amygdala8.63 ± 0.16
Basal Forebrain8.63 ± 0.19
Basal Part of Pons8.31 ± 0.3
Cerebellar Cortex8.72 ± 0.19
Cerebellar Nuclei8.52 ± 0.21
Claustrum8.53 ± 0.34
Epithalamus9.24 ± 0.45
Frontal Lobe8.46 ± 0.27
Globus Pallidus9.03 ± 0.38
Hypothalamus8.64 ± 0.14
Insula8.42 ± 0.19
Limbic Lobe8.59 ± 0.38
Mesencephalon8.65 ± 0.27
Myelencephalon8.57 ± 0.31
Occipital Lobe8.88 ± 0.33
Parietal Lobe8.56 ± 0.27
Pontine Tegmentum8.59 ± 0.29
Striatum8.92 ± 0.37
Subthalamus8.42 ± 0.14
Temporal Lobe8.46 ± 0.24
Thalamus8.51 ± 0.22
White Matter9.5 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Centb2CBCerebellum17.81
20.05
Centb2CTXCerebral cortex64.1
49.56
Centb2HIPHippocampal region58.41
100
Centb2HPFHippocampal formation47.76
70.23
Centb2HYHypothalamus4.18
2.96
Centb2LSXLateral septal complex29.94
27.29
Centb2MBMidbrain2.78
2.46
Centb2MYMedulla8.64
8
Centb2OLFOlfactory bulb62.93
55.13
Centb2PPons5.04
4.41
Centb2PALPallidum7.74
5.97
Centb2RHPRetrohippocampal region27.06
21.14
Centb2sAMYStriatum-like amygdalar nuclei12.51
8.53
Centb2STRStriatum43.36
31.25
Centb2STRdStriatum dorsal region50.58
36.46
Centb2STRvStriatum ventral region45.78
30.99
Centb2THThalamus11.09
9.23
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ACAP2_HUMAN_560 14 560 573 SNDSGIQQSSDDGR PRIDE
PAp00040549 21 676 696 GPLHHATVLGHTGQVCLFLKR 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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