AutismKB 2.0

Annotation Detail for GFPT2


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Basic Information Top
Gene Symbol:GFPT2 ( FLJ10380,GFAT2 )
Gene Full Name: glutamine-fructose-6-phosphate transaminase 2
Band: 5q35.3
Quick LinksEntrez ID:9945; OMIM: 603865; Uniprot ID:GFPT2_HUMAN; ENSEMBL ID: ENSG00000131459; HGNC ID: 4242
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
fetus11 / 56401219
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult72 / 193912137
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor23 / 26384587
glioma8 / 10688374
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor17 / 103127164
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal103 / 336030730
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor14 / 124949112
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone2 / 7165527
bone marrow1 / 4880120
brain28 / 110098925
cervix0 / 481710 
connective tissue12 / 14925580
ear2 / 16212123
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye1 / 2110544
heart7 / 8962678
intestine5 / 23447221
kidney2 / 2117779
larynx0 / 241450 
liver1 / 2077434
lung19 / 33697456
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary7 / 10205168
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate3 / 18934515
salivary gland0 / 201550 
skin19 / 21057490
spleen0 / 539520 
stomach6 / 9661962
testis23 / 33044269
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus5 / 23287821
vascular4 / 5178077
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205100_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.05
Adipocyte6.85
AdrenalCortex4.25
Adrenalgland3.5
Amygdala4.35
Appendix4.2
AtrioventricularNode3.1
BDCA4+_DentriticCells4.55
Bonemarrow4.1
BronchialEpithelialCells4.1
CD105+_Endothelial4.2
CD14+_Monocytes4.35
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.3
CD34+5.25
CD4+_Tcells4.65
CD56+_NKCells4.85
CD71+_EarlyErythroid3.9
CD8+_Tcells4.1
CardiacMyocytes56.2
Caudatenucleus3.75
Cerebellum3.7
CerebellumPeduncles4.8
CiliaryGanglion2.9
CingulateCortex4.3
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.9
FetalThyroid4.05
Fetalbrain4.2
Fetalliver3.55
Fetallung3.55
GlobusPallidus3.05
Heart5.2
Hypothalamus4.65
Kidney3.35
Leukemia_chronicMyelogenousK-5623.7
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.25
Liver5.45
Lung4.65
Lymphnode3.65
Lymphoma_burkitts(Daudi)5.25
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.9
OccipitalLobe3.8
OlfactoryBulb3.4
Ovary3.45
Pancreas3.65
PancreaticIslet4.45
ParietalLobe4.35
Pituitary4.9
Placenta4.65
Pons4.55
PrefrontalCortex5.75
Prostate4.85
Salivarygland3.35
SkeletalMuscle4.65
Skin3.2
SmoothMuscle317.95
Spinalcord5.55
SubthalamicNucleus3.75
SuperiorCervicalGanglion4.8
TemporalLobe4.05
Testis3.65
TestisGermCell3.6
TestisIntersitial3.5
TestisLeydigCell4.15
TestisSeminiferousTubule4.85
Thalamus4.25
Thymus3.3
Thyroid5.2
Tongue4.1
Tonsil4
Trachea3.55
TrigeminalGanglion4.6
Uterus3.65
UterusCorpus3.7
WholeBlood4.45
Wholebrain3.6
colon4.2
pineal_day5.28
pineal_night5.16
retina6.6
small_intestine3.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7986_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
Amygdala3.18 ± 1.05
Basal Forebrain2.44 ± 0.22
Basal Part of Pons2.31 ± 0.3
Cerebellar Cortex3.11 ± 0.58
Cerebellar Nuclei3 ± 0.89
Claustrum3.17 ± 0.65
Epithalamus3.19 ± 0.72
Frontal Lobe2.64 ± 0.84
Globus Pallidus2.43 ± 0.76
Hypothalamus2.66 ± 0.84
Insula2.15 ± 1
Limbic Lobe2.61 ± 0.73
Mesencephalon2.94 ± 0.86
Myelencephalon2.72 ± 0.82
Occipital Lobe2.77 ± 0.68
Parietal Lobe2.68 ± 0.94
Pontine Tegmentum2.64 ± 0.84
Striatum2.41 ± 0.66
Subthalamus2.44 ± 0.68
Temporal Lobe2.75 ± 0.8
Thalamus2.59 ± 0.8
White Matter2.43 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gfpt2CBCerebellum1.45
2.02
Gfpt2CTXCerebral cortex7.92
6.08
Gfpt2HIPHippocampal region3.87
4.22
Gfpt2HPFHippocampal formation4.55
4.31
Gfpt2HYHypothalamus0.69
0.74
Gfpt2LSXLateral septal complex1.56
1.45
Gfpt2MBMidbrain1.39
2.25
Gfpt2MYMedulla1.89
2.5
Gfpt2OLFOlfactory bulb11.04
8.33
Gfpt2PPons1.5
3.32
Gfpt2PALPallidum0.7
0.56
Gfpt2RHPRetrohippocampal region5.83
4.61
Gfpt2sAMYStriatum-like amygdalar nuclei2.16
1.63
Gfpt2STRStriatum1.91
1.64
Gfpt2STRdStriatum dorsal region1.21
1.02
Gfpt2STRvStriatum ventral region4.08
3.37
Gfpt2THThalamus1.4
1.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GFPT2_HUMAN_173 14 173 186 VIQQLEGAFALVFK PRIDE
GFPT2_HUMAN_319 9 319 327 GNFSAFMQK PRIDE
GFPT2_HUMAN_328 14 328 341 EIFEQPESVFNTMR PRIDE
PAp00002245 20 458 477 ETDCGVHINAGPEIGVASTK 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