AutismKB 2.0

Annotation Detail for ACAP3


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Basic Information Top
Gene Symbol:ACAP3 ( CENTB5,KIAA1716 )
Gene Full Name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
Band: 1p36.33
Quick LinksEntrez ID:116983; OMIM: NA; Uniprot ID:ACAP3_HUMAN; ENSEMBL ID: ENSG00000131584; HGNC ID: 16754
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
blastocyst4 / 6231964
fetus26 / 56401246
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult77 / 193912139
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor5 / 26384518
glioma15 / 106883140
head and neck tumor2 / 13630214
kidney tumor5 / 6895972
leukemia10 / 95842104
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal114 / 336030733
ovarian tumor4 / 7668252
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor4 / 12494932
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder1 / 2975733
blood8 / 12347864
bone3 / 7165541
bone marrow1 / 4880120
brain51 / 110098946
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus1 / 2020949
eye13 / 21105461
heart6 / 8962666
intestine11 / 23447246
kidney7 / 21177733
larynx2 / 2414582
liver1 / 2077434
lung9 / 33697426
lymph4 / 4427090
lymph node1 / 9161010
mammary gland11 / 15327171
mouth0 / 670520 
muscle2 / 10771518
nerve3 / 15768190
ovary5 / 10205148
pancreas4 / 21481218
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta4 / 28082514
prostate1 / 1893455
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach7 / 9661972
testis3 / 3304429
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P281497
  • 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
Amygdala8.96 ± 0.55
Basal Forebrain8.31 ± 0.23
Basal Part of Pons8.02 ± 0.47
Cerebellar Cortex8.75 ± 0.35
Cerebellar Nuclei7.57 ± 0.31
Claustrum9.19 ± 0.66
Epithalamus7 ± 0.49
Frontal Lobe7.91 ± 0.56
Globus Pallidus8.11 ± 0.55
Hypothalamus7.6 ± 0.38
Insula8.14 ± 0.66
Limbic Lobe8.68 ± 0.6
Mesencephalon8.24 ± 0.55
Myelencephalon8.29 ± 0.62
Occipital Lobe8.65 ± 0.5
Parietal Lobe8.33 ± 0.69
Pontine Tegmentum8.14 ± 0.56
Striatum8.7 ± 0.71
Subthalamus7.58 ± 0.37
Temporal Lobe8.31 ± 0.58
Thalamus8.06 ± 0.41
White Matter8.97 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Centb5CBCerebellum32.43
39.92
Centb5CTXCerebral cortex91.79
73.85
Centb5HIPHippocampal region38.46
53.11
Centb5HPFHippocampal formation39.68
44.16
Centb5HYHypothalamus4.41
3.42
Centb5LSXLateral septal complex8.52
5.79
Centb5MBMidbrain8.01
6.65
Centb5MYMedulla16.53
16.97
Centb5OLFOlfactory bulb49.26
39.55
Centb5PPons12.6
12.66
Centb5PALPallidum21.93
25.26
Centb5RHPRetrohippocampal region41.86
32.04
Centb5sAMYStriatum-like amygdalar nuclei50.39
43.58
Centb5STRStriatum45.4
35.55
Centb5STRdStriatum dorsal region46.53
34.88
Centb5STRvStriatum ventral region50.11
42.41
Centb5THThalamus21.72
19.74
Peptide Top

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