AutismKB 2.0

Annotation Detail for GOT2


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Basic Information Top
Gene Symbol:GOT2 ( FLJ40994,KAT4,KATIV,mitAAT )
Gene Full Name: glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)
Band: 16q21
Quick LinksEntrez ID:2806; OMIM: 138150; Uniprot ID:AATM_HUMAN; ENSEMBL ID: ENSG00000125166; HGNC ID: 4433
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 body7 / 7076198
blastocyst7 / 62319112
fetus172 / 564012304
neonate15 / 31097482
infant6 / 23620254
juvenile28 / 55556503
adult424 / 1939121218
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor6 / 12794468
bladder carcinoma3 / 17475171
breast (mammary gland) tumor15 / 94178159
cervical tumor9 / 34366261
chondrosarcoma10 / 82823120
colorectal tumor38 / 114246332
esophageal tumor6 / 17290347
gastrointestinal tumor31 / 119369259
germ cell tumor142 / 263845538
glioma44 / 106883411
head and neck tumor34 / 136302249
kidney tumor32 / 68959464
leukemia13 / 95842135
liver tumor46 / 96359477
lung tumor59 / 103127572
lymphoma30 / 71755418
non-neoplasia14 / 97250143
normal981 / 3360307291
ovarian tumor9 / 76682117
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS66 / 125680525
prostate cancer44 / 102680428
retinoblastoma21 / 46356453
skin tumor50 / 124949400
soft tissue/muscle tissue tumor48 / 125191383
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland14 / 33197421
ascites15 / 40015374
bladder12 / 29757403
blood15 / 123478121
bone8 / 71655111
bone marrow10 / 48801204
brain499 / 1100989453
cervix11 / 48171228
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue26 / 215722120
esophagus7 / 20209346
eye56 / 211054265
heart76 / 89626847
intestine70 / 234472298
kidney87 / 211777410
larynx3 / 24145124
liver95 / 207743457
lung102 / 336974302
lymph23 / 44270519
lymph node12 / 91610130
mammary gland20 / 153271130
mouth38 / 67052566
muscle53 / 107715492
nerve2 / 15768126
ovary18 / 102051176
pancreas15 / 21481269
parathyroid3 / 20539146
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta68 / 280825242
prostate77 / 189345406
salivary gland2 / 2015599
skin80 / 210574379
spleen25 / 53952463
stomach18 / 96619186
testis104 / 330442314
thymus14 / 81131172
thyroid14 / 47473294
tonsil9 / 16999529
trachea15 / 52413286
umbilical cord4 / 13680292
uterus49 / 232878210
vascular22 / 51780424
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200708_at
Cell line Expression level Expression bar
721_B_lymphoblasts627.9
Adipocyte15.45
AdrenalCortex46.95
Adrenalgland70.7
Amygdala61.45
Appendix8.8
AtrioventricularNode6.8
BDCA4+_DentriticCells75.2
Bonemarrow26.9
BronchialEpithelialCells212.2
CD105+_Endothelial127.5
CD14+_Monocytes35.2
CD19+_BCells(neg._sel.)50.5
CD33+_Myeloid37.15
CD34+159.6
CD4+_Tcells56.45
CD56+_NKCells53.55
CD71+_EarlyErythroid40.8
CD8+_Tcells43.55
CardiacMyocytes31.1
Caudatenucleus49.2
Cerebellum119.1
CerebellumPeduncles68.6
CiliaryGanglion20.15
CingulateCortex67.05
Colorectaladenocarcinoma32.7
DorsalRootGanglion16.25
FetalThyroid45.15
Fetalbrain53.45
Fetalliver106.1
Fetallung26.7
GlobusPallidus36.35
Heart142.15
Hypothalamus116.85
Kidney73.6
Leukemia_chronicMyelogenousK-562100.55
Leukemia_promyelocytic-HL-60405.1
Leukemialymphoblastic(MOLT-4)72.95
Liver449.1
Lung46.9
Lymphnode19.2
Lymphoma_burkitts(Daudi)303.85
Lymphoma_burkitts(Raji)203.85
MedullaOblongata82.45
OccipitalLobe84.35
OlfactoryBulb20.85
Ovary11.85
Pancreas24.1
PancreaticIslet41.25
ParietalLobe52.55
Pituitary64.4
Placenta25.5
Pons39.2
PrefrontalCortex100.55
Prostate68.95
Salivarygland41.3
SkeletalMuscle85.5
Skin18.05
SmoothMuscle46.65
Spinalcord55.4
SubthalamicNucleus79.15
SuperiorCervicalGanglion30.65
TemporalLobe49.8
Testis71.55
TestisGermCell92.4
TestisIntersitial26.65
TestisLeydigCell25.15
TestisSeminiferousTubule20.45
Thalamus134.6
Thymus44.3
Thyroid54.75
Tongue56.35
Tonsil40.8
Trachea41.4
TrigeminalGanglion23.8
Uterus24.55
UterusCorpus26.95
WholeBlood24.1
Wholebrain215.3
colon69.3
pineal_day278.56
pineal_night218.96
retina252.75
small_intestine80.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P692198
  • 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 ± 0.48
Basal Forebrain6.56 ± 0.36
Basal Part of Pons7.19 ± 0.2
Cerebellar Cortex6.74 ± 0.27
Cerebellar Nuclei7.37 ± 0.35
Claustrum6.95 ± 0.37
Epithalamus6.29 ± 0.53
Frontal Lobe6.8 ± 0.39
Globus Pallidus6.9 ± 0.38
Hypothalamus6.65 ± 0.22
Insula6.69 ± 0.2
Limbic Lobe6.85 ± 0.33
Mesencephalon6.83 ± 0.42
Myelencephalon6.76 ± 0.42
Occipital Lobe7.03 ± 0.31
Parietal Lobe6.95 ± 0.35
Pontine Tegmentum6.79 ± 0.34
Striatum6.21 ± 0.4
Subthalamus7.16 ± 0.18
Temporal Lobe6.82 ± 0.32
Thalamus6.92 ± 0.33
White Matter6.68 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Got2CBCerebellum42.96
100
Got2CTXCerebral cortex100
100
Got2HIPHippocampal region100
100
Got2HPFHippocampal formation100
100
Got2HYHypothalamus100
100
Got2LSXLateral septal complex100
100
Got2MBMidbrain100
100
Got2MYMedulla100
100
Got2OLFOlfactory bulb100
100
Got2PPons100
100
Got2PALPallidum100
100
Got2RHPRetrohippocampal region100
100
Got2sAMYStriatum-like amygdalar nuclei100
100
Got2STRStriatum100
100
Got2STRdStriatum dorsal region100
100
Got2STRvStriatum ventral region100
100
Got2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AATM_HUMAN_0 0 0 0 FVTVQTISGTGALR PRIDE
AATM_HUMAN_0 0 0 0 IAAAILNTPDLR PRIDE
AATM_HUMAN_0 0 0 0 IGASFLQR PRIDE
AATM_HUMAN_0 0 0 0 NLDKEYLPIGGLAEFCK PRIDE
AATM_HUMAN_107 15 107 121 ASAELALGENSEVLK PRIDE
AATM_HUMAN_108 15 108 122 ASAELALGENSEVLK PRIDE
AATM_HUMAN_108 18 108 125 ASAELALGENSEVLKSGR PRIDE
AATM_HUMAN_125 14 125 138 FVTVQTISGTGALR PRIDE
AATM_HUMAN_126 14 126 139 FVTVQTISGTGALR PRIDE
AATM_HUMAN_139 8 139 146 IGASFLQR PRIDE
AATM_HUMAN_140 8 140 147 IGASFLQR PRIDE
AATM_HUMAN_153 17 153 169 DVFLPKPTWGNHTPIFR PRIDE
AATM_HUMAN_154 17 154 170 DVFLPKPTWGNHTPIFR PRIDE
AATM_HUMAN_170 10 170 179 DAGMQLQGYR PRIDE
AATM_HUMAN_171 10 171 180 DAGMQLQGYR PRIDE
AATM_HUMAN_172 9 172 180 AGMQLQGYR PRIDE
AATM_HUMAN_186 15 186 200 TCGFDFTGAVEDISK PRIDE
AATM_HUMAN_201 27 201 227 IPEQSVLLLHACAHNPTGVDPRPEQWK PRIDE
AATM_HUMAN_228 7 228 234 EIATVVK PRIDE
AATM_HUMAN_262 17 262 278 HFIEQGINVCLCQSYAK PRIDE
AATM_HUMAN_263 17 263 279 HFIEQGINVCLCQSYAK PRIDE
AATM_HUMAN_280 8 280 287 NMGLYGER PRIDE
AATM_HUMAN_287 15 287 301 VGAFTMVCKDADEAK PRIDE
AATM_HUMAN_287 9 287 295 VGAFTMVCK PRIDE
AATM_HUMAN_310 16 310 325 ILIRPMYSNPPLNGAR PRIDE
AATM_HUMAN_314 12 314 325 PMYSNPPLNGAR PRIDE
AATM_HUMAN_325 12 325 336 IAAAILNTPDLR PRIDE
AATM_HUMAN_325 13 325 337 IAAAILNTPDLRK PRIDE
AATM_HUMAN_326 12 326 337 IAAAILNTPDLR PRIDE
AATM_HUMAN_326 13 326 338 IAAAILNTPDLRK PRIDE
AATM_HUMAN_327 11 327 337 AAAILNTPDLR PRIDE
AATM_HUMAN_338 8 338 345 KQWLQEVK PRIDE
AATM_HUMAN_356 8 356 363 TQLVSNLK PRIDE
AATM_HUMAN_356 9 356 364 TQLVSNLKK PRIDE
AATM_HUMAN_364 29 364 392 EGSTHNWQHITDQIGMFCFTGLKPEQVER PRIDE
AATM_HUMAN_365 29 365 393 EGSTHNWQHITDQIGMFCFTGLKPEQVER PRIDE
AATM_HUMAN_397 8 397 404 EFSIYMTK PRIDE
AATM_HUMAN_407 23 407 429 ISVAGVTSSNVGYLAHAIHQVTK PRIDE
AATM_HUMAN_408 23 408 430 ISVAGVTSSNVGYLAHAIHQVTK PRIDE
AATM_HUMAN_43 11 43 53 PILGVTEAFKR PRIDE
AATM_HUMAN_58 23 58 80 KMNLGVGAYRDDNGKPYVLPSVR PRIDE
AATM_HUMAN_59 10 59 68 KMNLGVGAYR PRIDE
AATM_HUMAN_59 9 59 67 MNLGVGAYR PRIDE
AATM_HUMAN_60 22 60 81 MNLGVGAYRDDNGKPYVLPSVR PRIDE
AATM_HUMAN_60 9 60 68 MNLGVGAYR PRIDE
AATM_HUMAN_69 13 69 81 DDNGKPYVLPSVR PRIDE
AATM_HUMAN_90 17 90 106 NLDKEYLPIGGLAEFCK PRIDE
AATM_HUMAN_91 17 91 107 NLDKEYLPIGGLAEFCK PRIDE
AATM_HUMAN_95 13 95 107 EYLPIGGLAEFCK PRIDE
PAp00002299 13 95 107 EYLPIGGLAEFCK 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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