AutismKB 2.0

Annotation Detail for APEX2


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Basic Information Top
Gene Symbol:APEX2 ( APE2,APEXL2,XTH2 )
Gene Full Name: APEX nuclease (apurinic/apyrimidinic endonuclease) 2
Band: Xp11.21
Quick LinksEntrez ID:27301; OMIM: 300773; Uniprot ID:APEX2_HUMAN; ENSEMBL ID: ENSG00000169188; HGNC ID: 17889
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 body5 / 7076170
blastocyst0 / 623190 
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult53 / 193912127
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) tumor12 / 94178127
cervical tumor7 / 34366203
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor7 / 10312767
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal52 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone0 / 716550 
bone marrow0 / 488010 
brain15 / 110098913
cervix9 / 48171186
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine4 / 23447217
kidney4 / 21177718
larynx0 / 241450 
liver4 / 20774319
lung10 / 33697429
lymph1 / 4427022
lymph node0 / 916100 
mammary gland12 / 15327178
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary7 / 10205168
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate9 / 18934547
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach2 / 9661920
testis1 / 3304423
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204408_at
Cell line Expression level Expression bar
721_B_lymphoblasts64.75
Adipocyte9.8
AdrenalCortex12.75
Adrenalgland9
Amygdala10.15
Appendix10.2
AtrioventricularNode8.2
BDCA4+_DentriticCells9.8
Bonemarrow15.3
BronchialEpithelialCells14.9
CD105+_Endothelial10.35
CD14+_Monocytes17.4
CD19+_BCells(neg._sel.)20.9
CD33+_Myeloid11.4
CD34+11.3
CD4+_Tcells14.05
CD56+_NKCells10.85
CD71+_EarlyErythroid29.8
CD8+_Tcells8.5
CardiacMyocytes15.1
Caudatenucleus9
Cerebellum9.85
CerebellumPeduncles13.75
CiliaryGanglion7
CingulateCortex11.7
Colorectaladenocarcinoma92.8
DorsalRootGanglion7.65
FetalThyroid9.95
Fetalbrain8.85
Fetalliver10.25
Fetallung10.9
GlobusPallidus7.35
Heart21.5
Hypothalamus10.8
Kidney8.85
Leukemia_chronicMyelogenousK-56216.3
Leukemia_promyelocytic-HL-6012.85
Leukemialymphoblastic(MOLT-4)14.45
Liver24.8
Lung22.15
Lymphnode8.95
Lymphoma_burkitts(Daudi)26.05
Lymphoma_burkitts(Raji)15.2
MedullaOblongata8.85
OccipitalLobe8.7
OlfactoryBulb7.3
Ovary6.85
Pancreas8.35
PancreaticIslet13.9
ParietalLobe10.9
Pituitary12.45
Placenta12.5
Pons10
PrefrontalCortex11.7
Prostate14.55
Salivarygland7.85
SkeletalMuscle19.85
Skin7.55
SmoothMuscle11.15
Spinalcord10.5
SubthalamicNucleus8.75
SuperiorCervicalGanglion12.65
TemporalLobe11.25
Testis8.55
TestisGermCell8.25
TestisIntersitial8.15
TestisLeydigCell9.7
TestisSeminiferousTubule8.15
Thalamus9.95
Thymus11.9
Thyroid21.2
Tongue10.15
Tonsil15.5
Trachea8.25
TrigeminalGanglion10.15
Uterus7.6
UterusCorpus10.85
WholeBlood12.85
Wholebrain10.15
colon10.3
pineal_day10.36
pineal_night9.94
retina12.15
small_intestine9.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15273_PI416261804
  • 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
Amygdala10.13 ± 1.04
Basal Forebrain9.7 ± 0.33
Basal Part of Pons9.85 ± 0.71
Cerebellar Cortex8.92 ± 0.64
Cerebellar Nuclei9.76 ± 0.76
Claustrum10.51 ± 1.04
Epithalamus9.06 ± 0.92
Frontal Lobe9.56 ± 0.83
Globus Pallidus10.4 ± 0.42
Hypothalamus9.78 ± 0.63
Insula9.28 ± 0.87
Limbic Lobe9.71 ± 0.76
Mesencephalon9.8 ± 0.71
Myelencephalon9.69 ± 0.8
Occipital Lobe9.51 ± 0.89
Parietal Lobe9.61 ± 0.74
Pontine Tegmentum9.51 ± 0.77
Striatum9.83 ± 0.91
Subthalamus9.78 ± 0.19
Temporal Lobe9.51 ± 0.87
Thalamus9.74 ± 0.6
White Matter10.07 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Apex2CBCerebellum16.55
26.43
Apex2CTXCerebral cortex5.01
3.8
Apex2HIPHippocampal region3.32
3.2
Apex2HPFHippocampal formation2.98
2.96
Apex2HYHypothalamus3.41
4.38
Apex2LSXLateral septal complex2.63
2.36
Apex2MBMidbrain1.32
1.9
Apex2MYMedulla2.47
3.43
Apex2OLFOlfactory bulb10.99
10.47
Apex2PPons1.65
1.98
Apex2PALPallidum1.19
1.1
Apex2RHPRetrohippocampal region2.37
2.58
Apex2sAMYStriatum-like amygdalar nuclei1.01
0.85
Apex2STRStriatum5.4
4.43
Apex2STRdStriatum dorsal region6.73
5.52
Apex2STRvStriatum ventral region3.36
2.91
Apex2THThalamus0.52
0.87
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