AutismKB 2.0

Annotation Detail for PHF17


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PHF17 ( FLJ22479,JADE1,KIAA1807 )
Gene Full Name: PHD finger protein 17
Band: 4q26-q27
Quick LinksEntrez ID:79960; OMIM: 610514; Uniprot ID:JADE1_HUMAN; ENSEMBL ID: ENSG00000077684; HGNC ID:
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 body8 / 70761113
blastocyst14 / 62319224
fetus50 / 56401288
neonate4 / 31097128
infant1 / 2362042
juvenile2 / 5555635
adult127 / 193912165
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor10 / 94178106
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor29 / 263845109
glioma6 / 10688356
head and neck tumor7 / 13630251
kidney tumor5 / 6895972
leukemia10 / 95842104
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma7 / 7175597
non-neoplasia0 / 972500 
normal282 / 336030783
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites3 / 4001574
bladder0 / 297570 
blood9 / 12347872
bone4 / 7165555
bone marrow1 / 4880120
brain105 / 110098995
cervix5 / 48171103
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue26 / 215722120
esophagus0 / 202090 
eye11 / 21105452
heart1 / 8962611
intestine7 / 23447229
kidney19 / 21177789
larynx0 / 241450 
liver12 / 20774357
lung21 / 33697462
lymph2 / 4427045
lymph node11 / 91610120
mammary gland24 / 153271156
mouth4 / 6705259
muscle8 / 10771574
nerve1 / 1576863
ovary2 / 10205119
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta11 / 28082539
prostate17 / 18934589
salivary gland0 / 201550 
skin11 / 21057452
spleen2 / 5395237
stomach7 / 9661972
testis28 / 33044284
thymus4 / 8113149
thyroid3 / 4747363
tonsil0 / 169990 
trachea15 / 52413286
umbilical cord2 / 13680146
uterus17 / 23287872
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218517_at
Cell line Expression level Expression bar
721_B_lymphoblasts36.2
Adipocyte80.45
AdrenalCortex43.55
Adrenalgland16.45
Amygdala14
Appendix19.6
AtrioventricularNode15.5
BDCA4+_DentriticCells25.6
Bonemarrow19.2
BronchialEpithelialCells11.95
CD105+_Endothelial154.75
CD14+_Monocytes32.2
CD19+_BCells(neg._sel.)154.8
CD33+_Myeloid26.3
CD34+182.15
CD4+_Tcells95.15
CD56+_NKCells195.2
CD71+_EarlyErythroid110.8
CD8+_Tcells65.95
CardiacMyocytes25.2
Caudatenucleus15.8
Cerebellum15.8
CerebellumPeduncles23.15
CiliaryGanglion13.5
CingulateCortex20.1
Colorectaladenocarcinoma19.65
DorsalRootGanglion16.5
FetalThyroid55.2
Fetalbrain21.1
Fetalliver17.5
Fetallung14.5
GlobusPallidus14.35
Heart24.85
Hypothalamus21.9
Kidney15.5
Leukemia_chronicMyelogenousK-56217.8
Leukemia_promyelocytic-HL-6018.5
Leukemialymphoblastic(MOLT-4)52.35
Liver25.55
Lung21.65
Lymphnode21.7
Lymphoma_burkitts(Daudi)33.75
Lymphoma_burkitts(Raji)22.65
MedullaOblongata18.05
OccipitalLobe17.75
OlfactoryBulb16.35
Ovary18.1
Pancreas39.6
PancreaticIslet62.85
ParietalLobe20.6
Pituitary28.45
Placenta16.9
Pons18.7
PrefrontalCortex25.05
Prostate23.25
Salivarygland15.75
SkeletalMuscle22.25
Skin15.55
SmoothMuscle22.65
Spinalcord20.95
SubthalamicNucleus16.3
SuperiorCervicalGanglion17.5
TemporalLobe17.9
Testis16.2
TestisGermCell16.6
TestisIntersitial16.35
TestisLeydigCell19.4
TestisSeminiferousTubule17
Thalamus19.9
Thymus15.6
Thyroid35.35
Tongue19.45
Tonsil20.25
Trachea16.4
TrigeminalGanglion19.2
Uterus16.3
UterusCorpus14.9
WholeBlood52
Wholebrain10.75
colon12.25
pineal_day38.48
pineal_night39.68
retina23.875
small_intestine12.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8987_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
Amygdala5.33 ± 0.56
Basal Forebrain5.42 ± 0.18
Basal Part of Pons5.41 ± 0.53
Cerebellar Cortex5.54 ± 0.26
Cerebellar Nuclei4.88 ± 0.57
Claustrum5.24 ± 0.55
Epithalamus5.08 ± 0.35
Frontal Lobe4.89 ± 0.46
Globus Pallidus4.86 ± 0.3
Hypothalamus5.42 ± 0.26
Insula5 ± 0.44
Limbic Lobe5.01 ± 0.52
Mesencephalon5.19 ± 0.53
Myelencephalon5.15 ± 0.48
Occipital Lobe5.51 ± 0.5
Parietal Lobe5.23 ± 0.47
Pontine Tegmentum5.08 ± 0.52
Striatum5.1 ± 0.46
Subthalamus5.26 ± 0.74
Temporal Lobe5.12 ± 0.49
Thalamus5.17 ± 0.54
White Matter4.97 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phf17CBCerebellum3.98
3.96
Phf17CTXCerebral cortex4.77
3.7
Phf17HIPHippocampal region5.95
5.83
Phf17HPFHippocampal formation8.45
7.42
Phf17HYHypothalamus14.99
15.37
Phf17LSXLateral septal complex0.67
0.47
Phf17MBMidbrain3.64
4.9
Phf17MYMedulla4.63
6.93
Phf17OLFOlfactory bulb13.01
10.46
Phf17PPons14.08
19.17
Phf17PALPallidum4.62
4.15
Phf17RHPRetrohippocampal region14.94
11.25
Phf17sAMYStriatum-like amygdalar nuclei7.94
6.59
Phf17STRStriatum5.41
4.07
Phf17STRdStriatum dorsal region4.13
2.74
Phf17STRvStriatum ventral region10.64
8.28
Phf17THThalamus3.46
2.67
Peptide Top

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved