AutismKB 2.0

Annotation Detail for ACAP1


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Basic Information Top
Gene Symbol:ACAP1 ( CENTB1,KIAA0050 )
Gene Full Name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
Band: 17p13.1
Quick LinksEntrez ID:9744; OMIM: 607763; Uniprot ID:ACAP1_HUMAN; ENSEMBL ID: ENSG00000072818; HGNC ID: 16467
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
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile10 / 55556179
adult57 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia19 / 95842198
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma10 / 71755139
non-neoplasia1 / 9725010
normal67 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood27 / 123478218
bone0 / 716550 
bone marrow1 / 4880120
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph10 / 44270225
lymph node8 / 9161087
mammary gland0 / 1532710 
mouth1 / 6705214
muscle2 / 10771518
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach1 / 9661910
testis8 / 33044224
thymus2 / 8113124
thyroid2 / 4747342
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205212_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts99.45
Adipocyte57.35
AdrenalCortex72.15
Adrenalgland54.55
Amygdala12.85
Appendix50.9
AtrioventricularNode100.3
BDCA4+_DentriticCells88.35
Bonemarrow58.4
BronchialEpithelialCells21.85
CD105+_Endothelial39.65
CD14+_Monocytes54.75
CD19+_BCells(neg._sel.)100.6
CD33+_Myeloid82.5
CD34+117.65
CD4+_Tcells246.8
CD56+_NKCells127.5
CD71+_EarlyErythroid65.3
CD8+_Tcells307.9
CardiacMyocytes25.3
Caudatenucleus67.3
Cerebellum51.2
CerebellumPeduncles105.75
CiliaryGanglion90.7
CingulateCortex93.7
Colorectaladenocarcinoma17.8
DorsalRootGanglion71.55
FetalThyroid56.8
Fetalbrain45.65
Fetalliver37.25
Fetallung30.55
GlobusPallidus85.35
Heart48.1
Hypothalamus51.7
Kidney60.55
Leukemia_chronicMyelogenousK-56253.15
Leukemia_promyelocytic-HL-6049.7
Leukemialymphoblastic(MOLT-4)53.25
Liver40.95
Lung21.4
Lymphnode84.4
Lymphoma_burkitts(Daudi)101.8
Lymphoma_burkitts(Raji)132.9
MedullaOblongata46.35
OccipitalLobe63.1
OlfactoryBulb37
Ovary36.3
Pancreas34.95
PancreaticIslet45.6
ParietalLobe81.15
Pituitary84
Placenta40.85
Pons96.1
PrefrontalCortex40.3
Prostate19.5
Salivarygland44.45
SkeletalMuscle96.7
Skin58.95
SmoothMuscle33.05
Spinalcord64.7
SubthalamicNucleus128.1
SuperiorCervicalGanglion66.7
TemporalLobe110.7
Testis31.55
TestisGermCell34.2
TestisIntersitial41
TestisLeydigCell56.4
TestisSeminiferousTubule59.05
Thalamus118.35
Thymus47.45
Thyroid15.4
Tongue52
Tonsil83.8
Trachea47.9
TrigeminalGanglion50
Uterus10.45
UterusCorpus35.05
WholeBlood41.45
Wholebrain19.65
colon12.85
pineal_day37.1
pineal_night36.88
retina37.175
small_intestine12.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P107336
  • 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
Amygdala2.36 ± 0.96
Basal Forebrain2.03 ± 0.22
Basal Part of Pons1.82 ± 0.62
Cerebellar Cortex1.98 ± 0.63
Cerebellar Nuclei2.29 ± 0.64
Claustrum2.78 ± 0.84
Epithalamus1.64 ± 0.77
Frontal Lobe1.88 ± 0.63
Globus Pallidus2.47 ± 0.45
Hypothalamus2.02 ± 0.69
Insula1.77 ± 0.45
Limbic Lobe2.04 ± 0.63
Mesencephalon2.17 ± 0.62
Myelencephalon2.06 ± 0.67
Occipital Lobe2.07 ± 0.7
Parietal Lobe2.05 ± 0.73
Pontine Tegmentum2.03 ± 0.68
Striatum2.29 ± 0.78
Subthalamus2.16 ± 0.7
Temporal Lobe1.88 ± 0.59
Thalamus1.98 ± 0.62
White Matter2.58 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Centb1CBCerebellum12.2
16.92
Centb1CTXCerebral cortex14.69
12.85
Centb1HIPHippocampal region0.49
0.62
Centb1HPFHippocampal formation1.48
1.37
Centb1HYHypothalamus0.4
0.68
Centb1LSXLateral septal complex0
0
Centb1MBMidbrain1.61
2.42
Centb1MYMedulla1.11
1.25
Centb1OLFOlfactory bulb3.45
3.14
Centb1PPons0.85
1.57
Centb1PALPallidum0.15
0.32
Centb1RHPRetrohippocampal region3.02
2.35
Centb1sAMYStriatum-like amygdalar nuclei0.49
0.44
Centb1STRStriatum0.4
0.47
Centb1STRdStriatum dorsal region0.43
0.58
Centb1STRvStriatum ventral region0.45
0.36
Centb1THThalamus0.21
0.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ACAP1_HUMAN_0 0 0 0 RAQEAEEAGAALRTAR PRIDE
ACAP1_HUMAN_147 16 147 162 RAQEAEEAGAALRTAR PRIDE
ACAP1_HUMAN_149 12 149 160 AQEAEEAGAALR 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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