AutismKB 2.0

Annotation Detail for PFKL


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Basic Information Top
Gene Symbol:PFKL ( DKFZp686G1648,DKFZp686L2097,FLJ30173,FLJ40909,PFK-B )
Gene Full Name: phosphofructokinase, liver
Band: 21q22.3
Quick LinksEntrez ID:5211; OMIM: 171860; Uniprot ID:K6PL_HUMAN; ENSEMBL ID: ENSG00000141959; HGNC ID: 8876
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 body9 / 70761127
blastocyst13 / 62319208
fetus48 / 56401285
neonate0 / 310970 
infant3 / 23620127
juvenile9 / 55556161
adult232 / 1939121119
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor15 / 94178159
cervical tumor10 / 34366290
chondrosarcoma14 / 82823169
colorectal tumor11 / 11424696
esophageal tumor2 / 17290115
gastrointestinal tumor10 / 11936983
germ cell tumor53 / 263845200
glioma38 / 106883355
head and neck tumor12 / 13630288
kidney tumor11 / 68959159
leukemia18 / 95842187
liver tumor4 / 9635941
lung tumor49 / 103127475
lymphoma33 / 71755459
non-neoplasia11 / 97250113
normal326 / 336030797
ovarian tumor8 / 76682104
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS23 / 125680183
prostate cancer21 / 102680204
retinoblastoma17 / 46356366
skin tumor63 / 124949504
soft tissue/muscle tissue tumor22 / 125191175
uterine tumor28 / 90257310
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites4 / 4001599
bladder3 / 29757100
blood20 / 123478161
bone8 / 71655111
bone marrow4 / 4880181
brain119 / 1100989108
cervix18 / 48171373
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue40 / 215722185
esophagus2 / 2020998
eye45 / 211054213
heart7 / 8962678
intestine24 / 234472102
kidney19 / 21177789
larynx0 / 241450 
liver5 / 20774324
lung67 / 336974198
lymph27 / 44270609
lymph node14 / 91610152
mammary gland20 / 153271130
mouth1 / 6705214
muscle13 / 107715120
nerve3 / 15768190
ovary16 / 102051156
pancreas18 / 21481283
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta47 / 280825167
prostate25 / 189345132
salivary gland3 / 20155148
skin71 / 210574337
spleen7 / 53952129
stomach7 / 9661972
testis41 / 330442124
thymus6 / 8113173
thyroid5 / 47473105
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus47 / 232878201
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211065_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts215
Adipocyte43.85
AdrenalCortex42.65
Adrenalgland37.9
Amygdala103.45
Appendix15.1
AtrioventricularNode24.75
BDCA4+_DentriticCells108
Bonemarrow45.75
BronchialEpithelialCells45.65
CD105+_Endothelial70.5
CD14+_Monocytes79.05
CD19+_BCells(neg._sel.)102.55
CD33+_Myeloid62.05
CD34+115.1
CD4+_Tcells74.9
CD56+_NKCells73.65
CD71+_EarlyErythroid91.45
CD8+_Tcells46.65
CardiacMyocytes62.05
Caudatenucleus62.65
Cerebellum32.3
CerebellumPeduncles48.9
CiliaryGanglion23.1
CingulateCortex63.2
Colorectaladenocarcinoma54.55
DorsalRootGanglion26.4
FetalThyroid55
Fetalbrain58.85
Fetalliver30.05
Fetallung43.4
GlobusPallidus40.55
Heart56.1
Hypothalamus81.1
Kidney69.5
Leukemia_chronicMyelogenousK-56260.6
Leukemia_promyelocytic-HL-6076.6
Leukemialymphoblastic(MOLT-4)38.5
Liver146.4
Lung141.4
Lymphnode43.35
Lymphoma_burkitts(Daudi)59.2
Lymphoma_burkitts(Raji)241.7
MedullaOblongata39.45
OccipitalLobe68.75
OlfactoryBulb56.6
Ovary22.1
Pancreas38.3
PancreaticIslet44.9
ParietalLobe55.6
Pituitary51.2
Placenta64.85
Pons42.85
PrefrontalCortex74
Prostate79.75
Salivarygland17.9
SkeletalMuscle11.75
Skin20.4
SmoothMuscle175.05
Spinalcord81.4
SubthalamicNucleus32.15
SuperiorCervicalGanglion29.65
TemporalLobe42.95
Testis49.3
TestisGermCell45.75
TestisIntersitial28
TestisLeydigCell31.7
TestisSeminiferousTubule39.25
Thalamus65.4
Thymus54.9
Thyroid93.8
Tongue40.25
Tonsil44.25
Trachea25.65
TrigeminalGanglion20.35
Uterus37.65
UterusCorpus28.1
WholeBlood55.4
Wholebrain83.3
colon49.95
pineal_day31.98
pineal_night28.92
retina64.425
small_intestine43.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P29081
  • 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
Amygdala4.28 ± 0.59
Basal Forebrain4.24 ± 0.38
Basal Part of Pons4.5 ± 0.55
Cerebellar Cortex4.48 ± 0.67
Cerebellar Nuclei4.05 ± 0.43
Claustrum3.95 ± 0.95
Epithalamus4.23 ± 0.89
Frontal Lobe4.57 ± 0.58
Globus Pallidus4.58 ± 0.31
Hypothalamus4.27 ± 0.61
Insula4.62 ± 0.52
Limbic Lobe4.31 ± 0.58
Mesencephalon4.3 ± 0.58
Myelencephalon4.47 ± 0.59
Occipital Lobe3.97 ± 0.52
Parietal Lobe4.33 ± 0.57
Pontine Tegmentum4.36 ± 0.6
Striatum4.38 ± 0.48
Subthalamus4.66 ± 0.36
Temporal Lobe4.66 ± 0.54
Thalamus4.72 ± 0.52
White Matter4.71 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PfklCBCerebellum63.59
94.87
PfklCTXCerebral cortex100
100
PfklHIPHippocampal region100
100
PfklHPFHippocampal formation100
100
PfklHYHypothalamus100
100
PfklLSXLateral septal complex100
100
PfklMBMidbrain100
100
PfklMYMedulla84.65
100
PfklOLFOlfactory bulb100
100
PfklPPons91.27
100
PfklPALPallidum100
100
PfklRHPRetrohippocampal region100
100
PfklsAMYStriatum-like amygdalar nuclei100
100
PfklSTRStriatum100
100
PfklSTRdStriatum dorsal region100
100
PfklSTRvStriatum ventral region100
100
PfklTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
K6PL_HUMAN_1 9 1 9 AAVDLEKLR PRIDE
K6PL_HUMAN_129 15 129 143 SEWGSLLEELVAEGK PRIDE
K6PL_HUMAN_184 17 184 200 IMEVIDAITTTAQSHQR PRIDE
K6PL_HUMAN_2 9 2 10 AAVDLEKLR PRIDE
K6PL_HUMAN_201 9 201 209 TFVLEVMGR PRIDE
K6PL_HUMAN_258 11 258 268 IIIIAEGAIDR PRIDE
K6PL_HUMAN_32 8 32 39 AAVRAVTR PRIDE
K6PL_HUMAN_423 21 423 443 TGISHGHTVYVVHDGFEGLAK PRIDE
K6PL_HUMAN_444 17 444 460 GQVQEVGWHDVAGWLGR PRIDE
K6PL_HUMAN_555 10 555 564 IKQSASGTKR PRIDE
K6PL_HUMAN_605 9 605 613 VNVEHMTEK PRIDE
K6PL_HUMAN_698 15 698 712 VFANAPDSACVIGLK PRIDE
PAp00000133 30 100 129 AAAYNLVQHGITNLCVIGGDGSLTGANIFR 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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