AutismKB 2.0

Annotation Detail for ABHD2


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Basic Information Top
Gene Symbol:ABHD2 ( HS1-2,LABH2,MGC111112,MGC26249,PHPS1-2 )
Gene Full Name: abhydrolase domain containing 2
Band: 15q26.1
Quick LinksEntrez ID:11057; OMIM: 612196; Uniprot ID:ABHD2_HUMAN; ENSEMBL ID: ENSG00000140526; HGNC ID: 18717
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 
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult78 / 193912140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor7 / 11424661
esophageal tumor3 / 17290173
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma3 / 10688328
head and neck tumor16 / 136302117
kidney tumor5 / 6895972
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal147 / 336030743
ovarian tumor0 / 766820 
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer9 / 10268087
retinoblastoma0 / 463560 
skin tumor4 / 12494932
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 tissue0 / 131060 
adrenal gland4 / 33197120
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone8 / 71655111
bone marrow0 / 488010 
brain30 / 110098927
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus3 / 20209148
eye9 / 21105442
heart1 / 8962611
intestine17 / 23447272
kidney11 / 21177751
larynx1 / 2414541
liver6 / 20774328
lung19 / 33697456
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth13 / 67052193
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas18 / 21481283
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta5 / 28082517
prostate15 / 18934579
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach3 / 9661931
testis71 / 330442214
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221815_at
Cell line Expression level Expression bar
721_B_lymphoblasts17.15
Adipocyte11.3
AdrenalCortex21.1
Adrenalgland14.55
Amygdala15
Appendix13.95
AtrioventricularNode10.35
BDCA4+_DentriticCells15.1
Bonemarrow14.45
BronchialEpithelialCells10.25
CD105+_Endothelial16.95
CD14+_Monocytes17.2
CD19+_BCells(neg._sel.)13.85
CD33+_Myeloid23.4
CD34+17.85
CD4+_Tcells14.45
CD56+_NKCells21.05
CD71+_EarlyErythroid13.85
CD8+_Tcells10.9
CardiacMyocytes17.15
Caudatenucleus12.05
Cerebellum11.05
CerebellumPeduncles21.3
CiliaryGanglion10.25
CingulateCortex14.85
Colorectaladenocarcinoma13.45
DorsalRootGanglion10.4
FetalThyroid13.25
Fetalbrain13.2
Fetalliver10.95
Fetallung10.7
GlobusPallidus10.45
Heart16.95
Hypothalamus13.1
Kidney12
Leukemia_chronicMyelogenousK-56211
Leukemia_promyelocytic-HL-609.95
Leukemialymphoblastic(MOLT-4)8.8
Liver44.6
Lung23.7
Lymphnode11.25
Lymphoma_burkitts(Daudi)16.75
Lymphoma_burkitts(Raji)16.4
MedullaOblongata13.1
OccipitalLobe13.05
OlfactoryBulb9.95
Ovary11.85
Pancreas13.1
PancreaticIslet15.95
ParietalLobe15.25
Pituitary17.85
Placenta11.7
Pons14
PrefrontalCortex16.7
Prostate56.45
Salivarygland10.9
SkeletalMuscle15.7
Skin10.55
SmoothMuscle12.8
Spinalcord10.95
SubthalamicNucleus12.45
SuperiorCervicalGanglion17.15
TemporalLobe12.55
Testis9.9
TestisGermCell8.2
TestisIntersitial10.5
TestisLeydigCell14.55
TestisSeminiferousTubule11.45
Thalamus13.7
Thymus11
Thyroid12.65
Tongue14.75
Tonsil13.25
Trachea13.35
TrigeminalGanglion16.5
Uterus12.85
UterusCorpus11.55
WholeBlood20.15
Wholebrain13.55
colon15.4
pineal_day16.08
pineal_night18.32
retina16.125
small_intestine20.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P395172
  • 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
Amygdala3.52 ± 0.68
Basal Forebrain3.21 ± 0.46
Basal Part of Pons3.11 ± 0.56
Cerebellar Cortex3.61 ± 0.69
Cerebellar Nuclei3.36 ± 0.47
Claustrum3.33 ± 0.69
Epithalamus3.31 ± 0.66
Frontal Lobe3.69 ± 0.59
Globus Pallidus3.06 ± 0.58
Hypothalamus3.32 ± 0.54
Insula3.65 ± 0.48
Limbic Lobe3.39 ± 0.68
Mesencephalon3.66 ± 0.7
Myelencephalon3.44 ± 0.6
Occipital Lobe3.09 ± 0.68
Parietal Lobe3.28 ± 0.64
Pontine Tegmentum3.49 ± 0.65
Striatum3.37 ± 0.62
Subthalamus3.34 ± 0.66
Temporal Lobe3.62 ± 0.63
Thalamus3.62 ± 0.67
White Matter1.96 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abhd2CBCerebellum18.02
25.65
Abhd2CTXCerebral cortex86.27
80.74
Abhd2HIPHippocampal region28.81
36.95
Abhd2HPFHippocampal formation28.55
32.62
Abhd2HYHypothalamus11.21
10.05
Abhd2LSXLateral septal complex26.07
23.15
Abhd2MBMidbrain8.58
10.01
Abhd2MYMedulla27.25
35.9
Abhd2OLFOlfactory bulb81.06
80.19
Abhd2PPons15.78
20.32
Abhd2PALPallidum13.5
13.26
Abhd2RHPRetrohippocampal region27.73
25.62
Abhd2sAMYStriatum-like amygdalar nuclei27.16
23.14
Abhd2STRStriatum74.63
65.45
Abhd2STRdStriatum dorsal region80.74
68.28
Abhd2STRvStriatum ventral region100
92.44
Abhd2THThalamus18.55
21.71
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00039613 19 157 175 CAVLNHLGALPNIELTSPR 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