AutismKB 2.0

Annotation Detail for APEX1


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Basic Information Top
Gene Symbol:APEX1 ( APE,APE1,APEN,APEX,APX,HAP1,REF1 )
Gene Full Name: APEX nuclease (multifunctional DNA repair enzyme) 1
Band: 14q11.2
Quick LinksEntrez ID:328; OMIM: 107748; Uniprot ID:APEX1_HUMAN; ENSEMBL ID: ENSG00000100823; HGNC ID: 587
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 body25 / 70761353
blastocyst26 / 62319417
fetus109 / 564012193
neonate0 / 310970 
infant23 / 23620973
juvenile21 / 55556377
adult376 / 1939121193
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) tumor19 / 94178201
cervical tumor25 / 34366727
chondrosarcoma14 / 82823169
colorectal tumor41 / 114246358
esophageal tumor6 / 17290347
gastrointestinal tumor34 / 119369284
germ cell tumor61 / 263845231
glioma29 / 106883271
head and neck tumor11 / 13630280
kidney tumor18 / 68959261
leukemia13 / 95842135
liver tumor57 / 96359591
lung tumor23 / 103127223
lymphoma34 / 71755473
non-neoplasia15 / 97250154
normal545 / 3360307162
ovarian tumor10 / 76682130
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS65 / 125680517
prostate cancer38 / 102680370
retinoblastoma24 / 46356517
skin tumor25 / 124949200
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland7 / 33197210
ascites20 / 40015499
bladder4 / 29757134
blood20 / 123478161
bone18 / 71655251
bone marrow6 / 48801122
brain168 / 1100989152
cervix27 / 48171560
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue95 / 215722440
esophagus6 / 20209296
eye39 / 211054184
heart17 / 89626189
intestine61 / 234472260
kidney38 / 211777179
larynx2 / 2414582
liver69 / 207743332
lung72 / 336974213
lymph17 / 44270384
lymph node13 / 91610141
mammary gland23 / 153271150
mouth5 / 6705274
muscle10 / 10771592
nerve1 / 1576863
ovary16 / 102051156
pancreas15 / 21481269
parathyroid19 / 20539925
pharynx4 / 4132896
pituitary gland3 / 16585180
placenta78 / 280825277
prostate45 / 189345237
salivary gland0 / 201550 
skin59 / 210574280
spleen13 / 53952240
stomach18 / 96619186
testis22 / 33044266
thymus3 / 8113136
thyroid4 / 4747384
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus37 / 232878158
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210027_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1400.85
Adipocyte221.85
AdrenalCortex145.9
Adrenalgland127.6
Amygdala137
Appendix86.4
AtrioventricularNode49.2
BDCA4+_DentriticCells828.2
Bonemarrow186.8
BronchialEpithelialCells326.6
CD105+_Endothelial490.4
CD14+_Monocytes293.4
CD19+_BCells(neg._sel.)626.3
CD33+_Myeloid317
CD34+901.05
CD4+_Tcells444.25
CD56+_NKCells290.75
CD71+_EarlyErythroid226.5
CD8+_Tcells429.25
CardiacMyocytes185.75
Caudatenucleus103.8
Cerebellum139.4
CerebellumPeduncles132.95
CiliaryGanglion56.05
CingulateCortex111.7
Colorectaladenocarcinoma148.95
DorsalRootGanglion55.95
FetalThyroid152.85
Fetalbrain178.2
Fetalliver211.1
Fetallung200.6
GlobusPallidus71.2
Heart154.35
Hypothalamus146.25
Kidney95.3
Leukemia_chronicMyelogenousK-562155.35
Leukemia_promyelocytic-HL-60581.6
Leukemialymphoblastic(MOLT-4)655.7
Liver149.35
Lung133.3
Lymphnode163.2
Lymphoma_burkitts(Daudi)690.15
Lymphoma_burkitts(Raji)229.15
MedullaOblongata116.15
OccipitalLobe112.4
OlfactoryBulb87.8
Ovary70.65
Pancreas74.05
PancreaticIslet128.45
ParietalLobe120.8
Pituitary139.75
Placenta118.75
Pons82.45
PrefrontalCortex144.7
Prostate120.3
Salivarygland97.9
SkeletalMuscle93.05
Skin81.9
SmoothMuscle222.55
Spinalcord140.65
SubthalamicNucleus94.75
SuperiorCervicalGanglion119
TemporalLobe99.95
Testis95.4
TestisGermCell76.25
TestisIntersitial70.1
TestisLeydigCell60.7
TestisSeminiferousTubule82.05
Thalamus122.75
Thymus228.6
Thyroid166.3
Tongue87.55
Tonsil142.55
Trachea110.05
TrigeminalGanglion65.75
Uterus92.55
UterusCorpus105.75
WholeBlood182.2
Wholebrain114.95
colon192.4
pineal_day334.98
pineal_night386.2
retina261.225
small_intestine275.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P151653
  • 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
Amygdala6.53 ± 0.28
Basal Forebrain6.34 ± 0.17
Basal Part of Pons6.53 ± 0.35
Cerebellar Cortex6.22 ± 0.32
Cerebellar Nuclei6.32 ± 0.3
Claustrum6.79 ± 0.38
Epithalamus6.07 ± 0.37
Frontal Lobe6.31 ± 0.37
Globus Pallidus6.69 ± 0.36
Hypothalamus6.22 ± 0.3
Insula6.21 ± 0.32
Limbic Lobe6.47 ± 0.31
Mesencephalon6.37 ± 0.46
Myelencephalon6.38 ± 0.39
Occipital Lobe6.44 ± 0.34
Parietal Lobe6.35 ± 0.45
Pontine Tegmentum6.32 ± 0.35
Striatum6.5 ± 0.36
Subthalamus5.7 ± 0.54
Temporal Lobe6.41 ± 0.34
Thalamus6.43 ± 0.31
White Matter6.95 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Apex1CBCerebellum6.82
7.14
Apex1CTXCerebral cortex24.67
17.99
Apex1HIPHippocampal region26.62
27.98
Apex1HPFHippocampal formation31.16
29.75
Apex1HYHypothalamus3.67
3.07
Apex1LSXLateral septal complex7.51
5.55
Apex1MBMidbrain6.56
6.34
Apex1MYMedulla11.72
13.69
Apex1OLFOlfactory bulb19.04
13.93
Apex1PPons10.77
11.63
Apex1PALPallidum8.44
8.55
Apex1RHPRetrohippocampal region38.56
32.04
Apex1sAMYStriatum-like amygdalar nuclei19.78
13.83
Apex1STRStriatum11.77
8.41
Apex1STRdStriatum dorsal region12.16
8.96
Apex1STRvStriatum ventral region10.09
6.47
Apex1THThalamus7.26
5.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
APEX1_HUMAN_0 0 0 0 GLDWVKEEAPDILCLQETK PRIDE
APEX1_HUMAN_0 0 0 0 LDYFLLSHSLLPALCDSK PRIDE
APEX1_HUMAN_0 0 0 0 VSYGIGDEEHDQEGR PRIDE
APEX1_HUMAN_141 15 141 155 VSYGIGDEEHDQEGR PRIDE
APEX1_HUMAN_202 19 202 220 KPLVLCGDLNVAHEEIDLR PRIDE
APEX1_HUMAN_237 17 237 253 QGFGELLQAVPLADSFR PRIDE
APEX1_HUMAN_281 18 281 298 LDYFLLSHSLLPALCDSK PRIDE
APEX1_HUMAN_31 21 31 51 KNDKEAAGEGPALYEDPPDQK PRIDE
APEX1_HUMAN_5 13 5 17 KKGAVAEDGDELR PRIDE
APEX1_HUMAN_63 10 63 72 ICSWNVDGLR PRIDE
APEX1_HUMAN_7 17 7 23 GAVAEDGDELRTEPEAK PRIDE
APEX1_HUMAN_7 18 7 24 GAVAEDGDELRTEPEAKK PRIDE
APEX1_HUMAN_79 19 79 97 GLDWVKEEAPDILCLQETK PRIDE
PAp00001353 27 99 125 CSENKLPAELQELPGLSHQYWSAPSDK 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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