AutismKB 2.0

Annotation Detail for ABAT


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Basic Information Top
Gene Symbol:ABAT ( FLJ17813,FLJ30272,GABA-AT,GABAT,NPD009 )
Gene Full Name: 4-aminobutyrate aminotransferase
Band: 16p13.2
Quick LinksEntrez ID:18; OMIM: 137150; Uniprot ID:GABT_HUMAN; ENSEMBL ID: ENSG00000183044; HGNC ID: 23
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 
fetus56 / 56401299
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult123 / 193912163
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor10 / 26384537
glioma11 / 106883102
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor17 / 96359176
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal269 / 336030780
ovarian tumor0 / 766820 
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone4 / 7165555
bone marrow0 / 488010 
brain131 / 1100989118
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye9 / 21105442
heart1 / 8962611
intestine2 / 2344728
kidney18 / 21177784
larynx0 / 241450 
liver46 / 207743221
lung7 / 33697420
lymph2 / 4427045
lymph node5 / 9161054
mammary gland8 / 15327152
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas29 / 214812135
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta5 / 28082517
prostate10 / 18934552
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis11 / 33044233
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209459_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.85
Adipocyte15.85
AdrenalCortex31.95
Adrenalgland17.4
Amygdala839.6
Appendix24.55
AtrioventricularNode26.4
BDCA4+_DentriticCells12.2
Bonemarrow19.1
BronchialEpithelialCells11.8
CD105+_Endothelial14.15
CD14+_Monocytes60.85
CD19+_BCells(neg._sel.)14.3
CD33+_Myeloid26.35
CD34+16.45
CD4+_Tcells13.6
CD56+_NKCells36.2
CD71+_EarlyErythroid15.2
CD8+_Tcells13.6
CardiacMyocytes34.3
Caudatenucleus627
Cerebellum336.15
CerebellumPeduncles348.55
CiliaryGanglion20.2
CingulateCortex619.8
Colorectaladenocarcinoma13.55
DorsalRootGanglion21.25
FetalThyroid36.15
Fetalbrain566.35
Fetalliver120.65
Fetallung19.5
GlobusPallidus235.65
Heart32.25
Hypothalamus1290.15
Kidney276.7
Leukemia_chronicMyelogenousK-56211.4
Leukemia_promyelocytic-HL-6011.3
Leukemialymphoblastic(MOLT-4)9.3
Liver290.05
Lung15.75
Lymphnode11.1
Lymphoma_burkitts(Daudi)20.75
Lymphoma_burkitts(Raji)26.45
MedullaOblongata408.2
OccipitalLobe586.45
OlfactoryBulb100.2
Ovary14.1
Pancreas148.3
PancreaticIslet72.15
ParietalLobe368.8
Pituitary515.2
Placenta21.4
Pons225.2
PrefrontalCortex1664.35
Prostate257.05
Salivarygland13.6
SkeletalMuscle33.5
Skin21.7
SmoothMuscle16.65
Spinalcord462.95
SubthalamicNucleus420.35
SuperiorCervicalGanglion37.7
TemporalLobe267.75
Testis17.65
TestisGermCell83
TestisIntersitial15.15
TestisLeydigCell18.7
TestisSeminiferousTubule14.85
Thalamus535.85
Thymus10.35
Thyroid430.25
Tongue22.6
Tonsil15.9
Trachea12.85
TrigeminalGanglion28.55
Uterus10.35
UterusCorpus21.55
WholeBlood125.85
Wholebrain1189.4
colon28.15
pineal_day105.56
pineal_night91.4
retina111.65
small_intestine107.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_52_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
Amygdala7.91 ± 0.24
Basal Forebrain8.26 ± 0.19
Basal Part of Pons7.39 ± 0.25
Cerebellar Cortex7.59 ± 0.23
Cerebellar Nuclei8.07 ± 0.17
Claustrum7.43 ± 0.47
Epithalamus8.27 ± 0.55
Frontal Lobe7.96 ± 0.4
Globus Pallidus8.29 ± 0.24
Hypothalamus8.26 ± 0.27
Insula7.98 ± 0.41
Limbic Lobe7.81 ± 0.47
Mesencephalon8.1 ± 0.35
Myelencephalon7.99 ± 0.45
Occipital Lobe8.12 ± 0.44
Parietal Lobe8.08 ± 0.39
Pontine Tegmentum8.11 ± 0.45
Striatum8.38 ± 0.35
Subthalamus7.81 ± 0.53
Temporal Lobe7.96 ± 0.36
Thalamus8.22 ± 0.35
White Matter6.46 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AbatCBCerebellum61.04
100
AbatCTXCerebral cortex82.39
87.01
AbatHIPHippocampal region45.8
79.16
AbatHPFHippocampal formation67.51
95.17
AbatHYHypothalamus100
100
AbatLSXLateral septal complex100
100
AbatMBMidbrain100
100
AbatMYMedulla97.07
100
AbatOLFOlfactory bulb92.06
100
AbatPPons93.74
100
AbatPALPallidum100
100
AbatRHPRetrohippocampal region93.36
100
AbatsAMYStriatum-like amygdalar nuclei100
100
AbatSTRStriatum100
100
AbatSTRdStriatum dorsal region100
100
AbatSTRvStriatum ventral region100
100
AbatTHThalamus93.04
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GABT_HUMAN_389 12 389 400 NLLLAEVINIIK PRIDE
PAp00024437 11 269 279 CLEEVEDLIVK 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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