AutismKB 2.0

Annotation Detail for PFKP


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Basic Information Top
Gene Symbol:PFKP ( FLJ40226,PFK-C,PFKF )
Gene Full Name: phosphofructokinase, platelet
Band: 10p15.2
Quick LinksEntrez ID:5214; OMIM: 171840; Uniprot ID:K6PP_HUMAN; ENSEMBL ID: ENSG00000067057; HGNC ID: 8878
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 body10 / 70761141
blastocyst8 / 62319128
fetus58 / 564012102
neonate2 / 3109764
infant4 / 23620169
juvenile9 / 55556161
adult281 / 1939121144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor18 / 94178191
cervical tumor3 / 3436687
chondrosarcoma24 / 82823289
colorectal tumor24 / 114246210
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor37 / 263845140
glioma21 / 106883196
head and neck tumor28 / 136302205
kidney tumor39 / 68959565
leukemia17 / 95842177
liver tumor17 / 96359176
lung tumor24 / 103127232
lymphoma11 / 71755153
non-neoplasia17 / 97250174
normal448 / 3360307133
ovarian tumor6 / 7668278
pancreatic tumor29 / 104616277
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer9 / 10268087
retinoblastoma19 / 46356409
skin tumor33 / 124949264
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites9 / 40015224
bladder0 / 297570 
blood19 / 123478153
bone13 / 71655181
bone marrow9 / 48801184
brain262 / 1100989237
cervix7 / 48171145
connective tissue22 / 149255147
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus0 / 202090 
eye65 / 211054307
heart5 / 8962655
intestine42 / 234472179
kidney52 / 211777245
larynx2 / 2414582
liver32 / 207743154
lung57 / 336974169
lymph9 / 44270203
lymph node6 / 9161065
mammary gland28 / 153271182
mouth5 / 6705274
muscle5 / 10771546
nerve3 / 15768190
ovary9 / 10205188
pancreas38 / 214812176
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta32 / 280825113
prostate18 / 18934595
salivary gland6 / 20155297
skin38 / 210574180
spleen1 / 5395218
stomach6 / 9661962
testis123 / 330442372
thymus9 / 81131110
thyroid20 / 47473421
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus29 / 232878124
vascular11 / 51780212
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201037_at
Cell line Expression level Expression bar
721_B_lymphoblasts738.95
Adipocyte32.35
AdrenalCortex17.75
Adrenalgland7.4
Amygdala386.3
Appendix27.75
AtrioventricularNode8.75
BDCA4+_DentriticCells174.55
Bonemarrow11.6
BronchialEpithelialCells728.7
CD105+_Endothelial18.85
CD14+_Monocytes39
CD19+_BCells(neg._sel.)90.6
CD33+_Myeloid44.2
CD34+281.9
CD4+_Tcells131.85
CD56+_NKCells117.1
CD71+_EarlyErythroid37
CD8+_Tcells155.4
CardiacMyocytes471.7
Caudatenucleus116
Cerebellum138.75
CerebellumPeduncles230.55
CiliaryGanglion50.3
CingulateCortex226.05
Colorectaladenocarcinoma131.15
DorsalRootGanglion78.75
FetalThyroid185.1
Fetalbrain212.65
Fetalliver4.8
Fetallung49.55
GlobusPallidus213.95
Heart192.25
Hypothalamus424.8
Kidney29.8
Leukemia_chronicMyelogenousK-56294.8
Leukemia_promyelocytic-HL-60102.15
Leukemialymphoblastic(MOLT-4)177.9
Liver15.2
Lung78.7
Lymphnode44.45
Lymphoma_burkitts(Daudi)34.75
Lymphoma_burkitts(Raji)182.25
MedullaOblongata242.75
OccipitalLobe203
OlfactoryBulb25.3
Ovary14.8
Pancreas49.15
PancreaticIslet78.9
ParietalLobe224.6
Pituitary72.65
Placenta25.7
Pons181
PrefrontalCortex419.45
Prostate143.7
Salivarygland28.9
SkeletalMuscle14.35
Skin11.5
SmoothMuscle717.95
Spinalcord128.5
SubthalamicNucleus305.1
SuperiorCervicalGanglion14.8
TemporalLobe353.95
Testis457.45
TestisGermCell726.95
TestisIntersitial891.4
TestisLeydigCell312.35
TestisSeminiferousTubule267.65
Thalamus382.75
Thymus85.85
Thyroid185.35
Tongue44.75
Tonsil46.45
Trachea37.7
TrigeminalGanglion86.35
Uterus70.85
UterusCorpus29.9
WholeBlood35.35
Wholebrain472.1
colon81.55
pineal_day115.68
pineal_night40.32
retina212.6
small_intestine88.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13192_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
Amygdala9.43 ± 0.28
Basal Forebrain8.94 ± 0.28
Basal Part of Pons9.31 ± 0.29
Cerebellar Cortex9.41 ± 0.21
Cerebellar Nuclei8.52 ± 0.26
Claustrum9.35 ± 0.34
Epithalamus8.83 ± 0.24
Frontal Lobe9.6 ± 0.32
Globus Pallidus8.71 ± 0.34
Hypothalamus9.45 ± 0.44
Insula9.57 ± 0.24
Limbic Lobe9.51 ± 0.38
Mesencephalon9.33 ± 0.44
Myelencephalon9.32 ± 0.48
Occipital Lobe9.07 ± 0.4
Parietal Lobe9.4 ± 0.42
Pontine Tegmentum9.39 ± 0.5
Striatum8.69 ± 0.41
Subthalamus9.42 ± 0.13
Temporal Lobe9.46 ± 0.32
Thalamus9.41 ± 0.32
White Matter7.6 ± 0.11
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
K6PP_HUMAN_0 0 0 0 AIGVLTSGGDAQGMNAAVR PRIDE
K6PP_HUMAN_0 0 0 0 ELVVTQLGYDTR PRIDE
K6PP_HUMAN_0 0 0 0 EWSGLLEELAR PRIDE
K6PP_HUMAN_0 0 0 0 IIEVVDAIMTTAQSHQR PRIDE
K6PP_HUMAN_0 0 0 0 LPLMECVQMTQDVQK PRIDE
K6PP_HUMAN_0 0 0 0 MLAIYDGFDGFAK PRIDE
K6PP_HUMAN_0 0 0 0 TFVLEVMGR PRIDE
K6PP_HUMAN_0 0 0 0 YLEEIATQMR PRIDE
K6PP_HUMAN_117 22 117 138 GITNLCVIGGDGSLTGANLFRK PRIDE
K6PP_HUMAN_193 17 193 209 IIEVVDAIMTTAQSHQR PRIDE
K6PP_HUMAN_194 17 194 210 IIEVVDAIMTTAQSHQR PRIDE
K6PP_HUMAN_210 9 210 218 TFVLEVMGR PRIDE
K6PP_HUMAN_289 12 289 300 ELVVTQLGYDTR PRIDE
K6PP_HUMAN_396 12 396 407 LAIKLPDDQIPK PRIDE
K6PP_HUMAN_442 13 442 454 MLAIYDGFDGFAK PRIDE
K6PP_HUMAN_486 10 486 495 YLEEIATQMR PRIDE
K6PP_HUMAN_487 10 487 496 YLEEIATQMR PRIDE
K6PP_HUMAN_613 12 613 624 DLQSNVEHLTEK PRIDE
K6PP_HUMAN_725 11 725 735 NVIFQPVAELK PRIDE
PAp00001725 12 614 625 DLQSNVEHLTEK 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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