AutismKB 2.0

Annotation Detail for AGAP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AGAP1 ( CENTG2,GGAP1,KIAA1099,MGC71657 )
Gene Full Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
Band: 2q37.2
Quick LinksEntrez ID:116987; OMIM: 608651; Uniprot ID:AGAP1_HUMAN; ENSEMBL ID: ENSG00000157985; HGNC ID: 16922
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 body3 / 7076142
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult74 / 193912138
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal92 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer2 / 10268019
retinoblastoma4 / 4635686
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain29 / 110098926
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye14 / 21105466
heart2 / 8962622
intestine4 / 23447217
kidney7 / 21177733
larynx1 / 2414541
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland7 / 15327145
mouth0 / 670520 
muscle4 / 10771537
nerve2 / 15768126
ovary0 / 1020510 
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta10 / 28082535
prostate2 / 18934510
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach4 / 9661941
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204066_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.65
Adipocyte8.4
AdrenalCortex6.75
Adrenalgland5.25
Amygdala166.85
Appendix6.45
AtrioventricularNode9.4
BDCA4+_DentriticCells5.85
Bonemarrow5.9
BronchialEpithelialCells7.2
CD105+_Endothelial5.9
CD14+_Monocytes6.2
CD19+_BCells(neg._sel.)6.05
CD33+_Myeloid7.15
CD34+7.5
CD4+_Tcells6.3
CD56+_NKCells17.05
CD71+_EarlyErythroid5.55
CD8+_Tcells6
CardiacMyocytes8
Caudatenucleus19
Cerebellum32.85
CerebellumPeduncles49.05
CiliaryGanglion5.25
CingulateCortex47.15
Colorectaladenocarcinoma19.4
DorsalRootGanglion5.65
FetalThyroid6.3
Fetalbrain15.3
Fetalliver5.35
Fetallung6.05
GlobusPallidus18.45
Heart8.3
Hypothalamus27.55
Kidney6.85
Leukemia_chronicMyelogenousK-5626
Leukemia_promyelocytic-HL-605.2
Leukemialymphoblastic(MOLT-4)4.55
Liver8.4
Lung10.9
Lymphnode4.8
Lymphoma_burkitts(Daudi)7.55
Lymphoma_burkitts(Raji)8.65
MedullaOblongata47.2
OccipitalLobe82.3
OlfactoryBulb45.2
Ovary4.5
Pancreas5.2
PancreaticIslet9.35
ParietalLobe88.5
Pituitary8.3
Placenta28.35
Pons28.1
PrefrontalCortex74.3
Prostate17.4
Salivarygland5.4
SkeletalMuscle7.45
Skin5.15
SmoothMuscle6.75
Spinalcord11.35
SubthalamicNucleus38.75
SuperiorCervicalGanglion7.4
TemporalLobe30.05
Testis8.75
TestisGermCell6.15
TestisIntersitial5.95
TestisLeydigCell6.35
TestisSeminiferousTubule5.95
Thalamus9.7
Thymus4.4
Thyroid9.05
Tongue6.2
Tonsil5.85
Trachea7.15
TrigeminalGanglion7.2
Uterus5.65
UterusCorpus5.75
WholeBlood6.4
Wholebrain102.2
colon11.9
pineal_day24.64
pineal_night29.6
retina59.15
small_intestine16.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_155_PI416408490
  • 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
Amygdala7.35 ± 0.4
Basal Forebrain7.62 ± 0.16
Basal Part of Pons7.92 ± 0.2
Cerebellar Cortex7.62 ± 0.21
Cerebellar Nuclei7.75 ± 0.25
Claustrum7.13 ± 0.46
Epithalamus7.3 ± 0.32
Frontal Lobe7.42 ± 0.36
Globus Pallidus7.89 ± 0.19
Hypothalamus7.42 ± 0.25
Insula7.6 ± 0.19
Limbic Lobe7.47 ± 0.4
Mesencephalon7.53 ± 0.37
Myelencephalon7.54 ± 0.33
Occipital Lobe7.65 ± 0.27
Parietal Lobe7.59 ± 0.29
Pontine Tegmentum7.5 ± 0.33
Striatum7.43 ± 0.33
Subthalamus7.44 ± 0.34
Temporal Lobe7.64 ± 0.24
Thalamus7.62 ± 0.26
White Matter8.98 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Centg2CBCerebellum31.86
35.71
Centg2CTXCerebral cortex31.66
22.9
Centg2HIPHippocampal region24.51
31.32
Centg2HPFHippocampal formation28.31
29.29
Centg2HYHypothalamus18.94
15.33
Centg2LSXLateral septal complex6.61
5.54
Centg2MBMidbrain25.72
22.76
Centg2MYMedulla34.3
37.55
Centg2OLFOlfactory bulb50.07
43.11
Centg2PPons31.66
34.04
Centg2PALPallidum16.72
15.12
Centg2RHPRetrohippocampal region35.31
27.43
Centg2sAMYStriatum-like amygdalar nuclei21.68
15.29
Centg2STRStriatum27.24
19.84
Centg2STRdStriatum dorsal region27.71
20.23
Centg2STRvStriatum ventral region34.35
24.07
Centg2THThalamus27.26
23.39
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