AutismKB 2.0

Annotation Detail for AVEN


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Basic Information Top
Gene Symbol:AVEN ( PDCD12 )
Gene Full Name: apoptosis, caspase activation inhibitor
Band: 15q14
Quick LinksEntrez ID:57099; OMIM: 605265; Uniprot ID:AVEN_HUMAN; ENSEMBL ID: ENSG00000169857; HGNC ID: 13509
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 body2 / 7076128
blastocyst2 / 6231932
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult25 / 193912112
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal32 / 33603079
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor2 / 12494916
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 gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain3 / 11009892
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye6 / 21105428
heart3 / 8962633
intestine7 / 23447229
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node4 / 9161043
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219366_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.15
Adipocyte5.55
AdrenalCortex5.75
Adrenalgland6.05
Amygdala5.65
Appendix5.3
AtrioventricularNode4.5
BDCA4+_DentriticCells19.95
Bonemarrow5.45
BronchialEpithelialCells45.6
CD105+_Endothelial5.9
CD14+_Monocytes6.25
CD19+_BCells(neg._sel.)9.95
CD33+_Myeloid7.3
CD34+13
CD4+_Tcells6.15
CD56+_NKCells15
CD71+_EarlyErythroid5.15
CD8+_Tcells5.25
CardiacMyocytes15.8
Caudatenucleus4.9
Cerebellum4.5
CerebellumPeduncles6.3
CiliaryGanglion3.95
CingulateCortex5.6
Colorectaladenocarcinoma10.5
DorsalRootGanglion4.6
FetalThyroid4.9
Fetalbrain5.35
Fetalliver4.85
Fetallung4.5
GlobusPallidus4
Heart7.35
Hypothalamus6.2
Kidney4.55
Leukemia_chronicMyelogenousK-5625.05
Leukemia_promyelocytic-HL-607.95
Leukemialymphoblastic(MOLT-4)5.7
Liver7.1
Lung6.25
Lymphnode4.6
Lymphoma_burkitts(Daudi)7.1
Lymphoma_burkitts(Raji)7.75
MedullaOblongata4.75
OccipitalLobe5
OlfactoryBulb4.25
Ovary3.65
Pancreas4.6
PancreaticIslet7.85
ParietalLobe5.8
Pituitary6.5
Placenta20.35
Pons5.25
PrefrontalCortex6.7
Prostate7.7
Salivarygland4.2
SkeletalMuscle6.6
Skin4.25
SmoothMuscle35.65
Spinalcord6
SubthalamicNucleus5.05
SuperiorCervicalGanglion6.35
TemporalLobe5
Testis15.45
TestisGermCell4.6
TestisIntersitial4.6
TestisLeydigCell5.45
TestisSeminiferousTubule4.55
Thalamus5.75
Thymus6.8
Thyroid6.8
Tongue5.55
Tonsil5.4
Trachea4.6
TrigeminalGanglion5.4
Uterus4.55
UterusCorpus4.95
WholeBlood6
Wholebrain5.35
colon5.65
pineal_day6.84
pineal_night6.82
retina6.725
small_intestine5.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13051_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
Amygdala6.99 ± 0.36
Basal Forebrain7.46 ± 0.3
Basal Part of Pons7.04 ± 0.38
Cerebellar Cortex7.35 ± 0.19
Cerebellar Nuclei7.43 ± 0.2
Claustrum7.25 ± 0.39
Epithalamus7.05 ± 0.29
Frontal Lobe6.9 ± 0.37
Globus Pallidus7.51 ± 0.38
Hypothalamus7.33 ± 0.21
Insula6.82 ± 0.33
Limbic Lobe6.91 ± 0.44
Mesencephalon7.11 ± 0.44
Myelencephalon7.02 ± 0.32
Occipital Lobe7.44 ± 0.45
Parietal Lobe7.09 ± 0.33
Pontine Tegmentum7.08 ± 0.39
Striatum6.47 ± 0.35
Subthalamus6.95 ± 0.35
Temporal Lobe6.9 ± 0.36
Thalamus7.16 ± 0.24
White Matter7.81 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AvenCBCerebellum11.42
14.4
AvenCTXCerebral cortex18.13
12.74
AvenHIPHippocampal region8.28
7.38
AvenHPFHippocampal formation9.35
7.66
AvenHYHypothalamus6.58
5.3
AvenLSXLateral septal complex7.21
4.6
AvenMBMidbrain8.62
8.57
AvenMYMedulla24.87
28.24
AvenOLFOlfactory bulb24.32
19.5
AvenPPons17.52
19.88
AvenPALPallidum10.19
8.76
AvenRHPRetrohippocampal region12.13
8.76
AvensAMYStriatum-like amygdalar nuclei5.05
3.5
AvenSTRStriatum7.5
4.88
AvenSTRdStriatum dorsal region6.28
4.17
AvenSTRvStriatum ventral region12.56
7.52
AvenTHThalamus11.47
8.74
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00007216 23 313 335 SKEDGEVVQEEEVCAKPSVTEEK 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