AutismKB 2.0

Annotation Detail for PFKFB1


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Basic Information Top
Gene Symbol:PFKFB1 ( F6PK,HL2K,MGC116715,MGC116717,PFRX )
Gene Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Band: Xp11.21
Quick LinksEntrez ID:5207; OMIM: 311790; Uniprot ID:F261_HUMAN; ENSEMBL ID: ENSG00000158571; HGNC ID: 8872
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 
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal27 / 33603078
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver4 / 20774319
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207537_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.5
Adipocyte4.95
AdrenalCortex4.95
Adrenalgland6.05
Amygdala5
Appendix5.3
AtrioventricularNode3.85
BDCA4+_DentriticCells4.85
Bonemarrow6.25
BronchialEpithelialCells4.85
CD105+_Endothelial4.6
CD14+_Monocytes4.85
CD19+_BCells(neg._sel.)4.75
CD33+_Myeloid5.9
CD34+6
CD4+_Tcells4.95
CD56+_NKCells5.45
CD71+_EarlyErythroid4.4
CD8+_Tcells4.25
CardiacMyocytes6
Caudatenucleus4.4
Cerebellum3.8
CerebellumPeduncles6.25
CiliaryGanglion3.2
CingulateCortex4.75
Colorectaladenocarcinoma4.7
DorsalRootGanglion4.05
FetalThyroid4.5
Fetalbrain4.7
Fetalliver5.25
Fetallung3.95
GlobusPallidus3.4
Heart6.9
Hypothalamus4.9
Kidney6.9
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)3.75
Liver15.25
Lung5.25
Lymphnode4.05
Lymphoma_burkitts(Daudi)5.95
Lymphoma_burkitts(Raji)6.8
MedullaOblongata5
OccipitalLobe4.15
OlfactoryBulb3.65
Ovary3.35
Pancreas3.75
PancreaticIslet5
ParietalLobe4.95
Pituitary5.55
Placenta4.75
Pons5.85
PrefrontalCortex5.6
Prostate5.45
Salivarygland4.15
SkeletalMuscle6.9
Skin4.15
SmoothMuscle5.35
Spinalcord5
SubthalamicNucleus4.15
SuperiorCervicalGanglion9.25
TemporalLobe4.35
Testis4.1
TestisGermCell3.9
TestisIntersitial4
TestisLeydigCell4.75
TestisSeminiferousTubule6.3
Thalamus4.7
Thymus4.4
Thyroid5.95
Tongue4.75
Tonsil4.45
Trachea4
TrigeminalGanglion10
Uterus3.75
UterusCorpus5.85
WholeBlood5.1
Wholebrain4
colon4.7
pineal_day5.6
pineal_night5.52
retina5.6
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7920_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
Amygdala2.26 ± 1.08
Basal Forebrain1.63 ± 0.2
Basal Part of Pons1.63 ± 0.67
Cerebellar Cortex1.58 ± 0.75
Cerebellar Nuclei2.06 ± 0.78
Claustrum2.47 ± 0.88
Epithalamus1.6 ± 0.54
Frontal Lobe1.5 ± 0.8
Globus Pallidus2.42 ± 0.5
Hypothalamus1.79 ± 0.68
Insula1.47 ± 0.43
Limbic Lobe1.72 ± 0.68
Mesencephalon1.91 ± 0.72
Myelencephalon1.79 ± 0.75
Occipital Lobe1.74 ± 0.65
Parietal Lobe1.86 ± 0.7
Pontine Tegmentum1.73 ± 0.72
Striatum1.92 ± 0.47
Subthalamus1.8 ± 0.68
Temporal Lobe1.65 ± 0.72
Thalamus1.69 ± 0.66
White Matter2.32 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pfkfb1CBCerebellum0
0
Pfkfb1CTXCerebral cortex0
0
Pfkfb1HIPHippocampal region0
0
Pfkfb1HPFHippocampal formation0
0
Pfkfb1HYHypothalamus0
0
Pfkfb1LSXLateral septal complex0
0
Pfkfb1MBMidbrain0
0
Pfkfb1MYMedulla0
0
Pfkfb1OLFOlfactory bulb0
0
Pfkfb1PPons0
0
Pfkfb1PALPallidum0
0
Pfkfb1RHPRetrohippocampal region0
0
Pfkfb1sAMYStriatum-like amygdalar nuclei0
0
Pfkfb1STRStriatum0
0
Pfkfb1STRdStriatum dorsal region0
0
Pfkfb1STRvStriatum ventral region0
0
Pfkfb1THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
F261_HUMAN_107 8 107 114 QCALAALK PRIDE
F261_HUMAN_16 11 16 26 IWIPHSSGSSR PRIDE
F261_HUMAN_240 13 240 252 TVYYLMNIHVTPR PRIDE
F261_HUMAN_270 10 270 279 IGGDSGLSVR PRIDE
F261_HUMAN_282 19 282 300 QYAYALANFIQSQGISSLK PRIDE
F261_HUMAN_309 16 309 324 TIQTAEALGVPYEQWK PRIDE
F261_HUMAN_32 22 32 53 GSSIPQFTNSPTMVIMVGLPAR PRIDE
F261_HUMAN_365 10 365 374 GESYEDLVQR PRIDE
F261_HUMAN_375 10 375 384 LEPVIMELER PRIDE
F261_HUMAN_434 15 434 448 VESIYLNVEAVNTHR PRIDE

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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