AutismKB 2.0

Annotation Detail for PFKFB2


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Basic Information Top
Gene Symbol:PFKFB2 ( DKFZp781D2217,MGC138308,MGC138310,PFK-2/FBPase-2 )
Gene Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
Band: 1q32.1
Quick LinksEntrez ID:5208; OMIM: 171835; Uniprot ID:F262_HUMAN; ENSEMBL ID: ENSG00000123836; HGNC ID: 8873
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 body1 / 7076114
blastocyst2 / 6231932
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult58 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor13 / 13630295
kidney tumor6 / 6895987
leukemia2 / 9584220
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal133 / 336030739
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain52 / 110098947
cervix1 / 4817120
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye6 / 21105428
heart2 / 8962622
intestine8 / 23447234
kidney12 / 21177756
larynx2 / 2414582
liver7 / 20774333
lung5 / 33697414
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth2 / 6705229
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate4 / 18934521
salivary gland0 / 201550 
skin10 / 21057447
spleen2 / 5395237
stomach3 / 9661931
testis25 / 33044275
thymus5 / 8113161
thyroid9 / 47473189
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209992_at
Cell line Expression level Expression bar
721_B_lymphoblasts5
Adipocyte4.15
AdrenalCortex4.35
Adrenalgland3.7
Amygdala4.6
Appendix4.9
AtrioventricularNode3.25
BDCA4+_DentriticCells37.2
Bonemarrow5.55
BronchialEpithelialCells4.2
CD105+_Endothelial4.3
CD14+_Monocytes4.55
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.55
CD34+5.45
CD4+_Tcells4.55
CD56+_NKCells4.9
CD71+_EarlyErythroid3.95
CD8+_Tcells4.05
CardiacMyocytes5.3
Caudatenucleus3.9
Cerebellum3.45
CerebellumPeduncles4.9
CiliaryGanglion3.15
CingulateCortex4.9
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.4
FetalThyroid4.2
Fetalbrain4.2
Fetalliver3.65
Fetallung3.6
GlobusPallidus3.55
Heart5.45
Hypothalamus4.8
Kidney4.65
Leukemia_chronicMyelogenousK-5623.9
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.4
Liver5.6
Lung4.55
Lymphnode3.7
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)5.95
MedullaOblongata4.1
OccipitalLobe4
OlfactoryBulb4.1
Ovary2.85
Pancreas3.65
PancreaticIslet29.45
ParietalLobe4.5
Pituitary7.85
Placenta4.45
Pons5.5
PrefrontalCortex8.1
Prostate5
Salivarygland3.6
SkeletalMuscle6.05
Skin3.35
SmoothMuscle4.8
Spinalcord6.15
SubthalamicNucleus5
SuperiorCervicalGanglion5.35
TemporalLobe4.25
Testis3.7
TestisGermCell3.6
TestisIntersitial3.6
TestisLeydigCell4.35
TestisSeminiferousTubule3.7
Thalamus5.6
Thymus3.4
Thyroid5.85
Tongue4.15
Tonsil4.2
Trachea3.55
TrigeminalGanglion7
Uterus3.5
UterusCorpus3.8
WholeBlood4.7
Wholebrain4.25
colon4.05
pineal_day7.14
pineal_night16.14
retina21.5
small_intestine4.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P201508
  • 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
Amygdala4.52 ± 0.33
Basal Forebrain4.38 ± 0.62
Basal Part of Pons5.24 ± 0.29
Cerebellar Cortex4.53 ± 0.47
Cerebellar Nuclei4.78 ± 0.33
Claustrum4.98 ± 0.37
Epithalamus5.13 ± 0.78
Frontal Lobe4.92 ± 0.46
Globus Pallidus4.66 ± 0.3
Hypothalamus4.71 ± 0.74
Insula4.86 ± 0.45
Limbic Lobe4.84 ± 0.42
Mesencephalon4.78 ± 0.4
Myelencephalon4.81 ± 0.51
Occipital Lobe4.81 ± 0.46
Parietal Lobe4.85 ± 0.43
Pontine Tegmentum4.74 ± 0.45
Striatum4.93 ± 0.41
Subthalamus4.69 ± 0.29
Temporal Lobe4.8 ± 0.48
Thalamus5.04 ± 0.39
White Matter4.9 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pfkfb2CBCerebellum18.78
16.32
Pfkfb2CTXCerebral cortex28.98
18.5
Pfkfb2HIPHippocampal region32.29
21.77
Pfkfb2HPFHippocampal formation29.14
20.15
Pfkfb2HYHypothalamus11.22
6.96
Pfkfb2LSXLateral septal complex21.19
12.26
Pfkfb2MBMidbrain11.39
8.84
Pfkfb2MYMedulla27.35
22.88
Pfkfb2OLFOlfactory bulb52.8
35.17
Pfkfb2PPons21.98
19.99
Pfkfb2PALPallidum12.71
9.58
Pfkfb2RHPRetrohippocampal region25.16
17.37
Pfkfb2sAMYStriatum-like amygdalar nuclei17.79
10.7
Pfkfb2STRStriatum12.75
7.59
Pfkfb2STRdStriatum dorsal region8.73
5.15
Pfkfb2STRvStriatum ventral region21.33
12.33
Pfkfb2THThalamus11.45
7.62
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
F262_HUMAN_2 21 2 22 SGASSSEQNNNSYETKTPNLR PRIDE
PAp00081833 13 360 372 YPGGESYQDLVQR 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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