AutismKB 2.0

Annotation Detail for PHF8


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Basic Information Top
Gene Symbol:PHF8 ( DKFZp686E0868,JHDM1F,KIAA1111,MRXSSD,ZNF422 )
Gene Full Name: PHD finger protein 8
Band: Xp11.22
Quick LinksEntrez ID:23133; OMIM: 300560; Uniprot ID:PHF8_HUMAN; ENSEMBL ID: ENSG00000172943; HGNC ID: 20672
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
blastocyst9 / 62319144
fetus23 / 56401240
neonate3 / 3109796
infant0 / 236200 
juvenile0 / 555560 
adult80 / 193912141
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor4 / 34366116
chondrosarcoma2 / 8282324
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor13 / 26384549
glioma0 / 1068830 
head and neck tumor12 / 13630288
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal113 / 336030733
ovarian tumor5 / 7668265
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer9 / 10268087
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood2 / 12347816
bone0 / 716550 
bone marrow1 / 4880120
brain16 / 110098914
cervix4 / 4817183
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye9 / 21105442
heart1 / 8962611
intestine7 / 23447229
kidney2 / 2117779
larynx0 / 241450 
liver3 / 20774314
lung14 / 33697441
lymph1 / 4427022
lymph node14 / 91610152
mammary gland1 / 1532716
mouth9 / 67052134
muscle4 / 10771537
nerve1 / 1576863
ovary5 / 10205148
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate13 / 18934568
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach3 / 9661931
testis50 / 330442151
thymus4 / 8113149
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord3 / 13680219
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212916_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.9
Adipocyte6.6
AdrenalCortex7.95
Adrenalgland6.05
Amygdala6.85
Appendix7.65
AtrioventricularNode5.5
BDCA4+_DentriticCells8.65
Bonemarrow7.8
BronchialEpithelialCells6.5
CD105+_Endothelial7.35
CD14+_Monocytes7.95
CD19+_BCells(neg._sel.)7.9
CD33+_Myeloid10.4
CD34+13.05
CD4+_Tcells8.3
CD56+_NKCells9.5
CD71+_EarlyErythroid6.85
CD8+_Tcells11.65
CardiacMyocytes10.35
Caudatenucleus6.5
Cerebellum5.85
CerebellumPeduncles8.15
CiliaryGanglion5.05
CingulateCortex7.2
Colorectaladenocarcinoma7.1
DorsalRootGanglion5.5
FetalThyroid7.05
Fetalbrain7.1
Fetalliver6.2
Fetallung6.7
GlobusPallidus5.3
Heart10.1
Hypothalamus7.4
Kidney6.05
Leukemia_chronicMyelogenousK-5627.15
Leukemia_promyelocytic-HL-606.25
Leukemialymphoblastic(MOLT-4)7.55
Liver9.4
Lung7.7
Lymphnode6.8
Lymphoma_burkitts(Daudi)9.25
Lymphoma_burkitts(Raji)10.3
MedullaOblongata6.6
OccipitalLobe6.3
OlfactoryBulb5.75
Ovary4.8
Pancreas5.75
PancreaticIslet7.75
ParietalLobe7.65
Pituitary8.5
Placenta7.7
Pons6.85
PrefrontalCortex8.55
Prostate8.65
Salivarygland5.8
SkeletalMuscle8.7
Skin6
SmoothMuscle7.6
Spinalcord7.65
SubthalamicNucleus6.5
SuperiorCervicalGanglion9.35
TemporalLobe6.6
Testis21.85
TestisGermCell7.15
TestisIntersitial6.1
TestisLeydigCell7.55
TestisSeminiferousTubule7.05
Thalamus7.25
Thymus16.55
Thyroid9.3
Tongue7.15
Tonsil7.05
Trachea5.85
TrigeminalGanglion7.95
Uterus5.8
UterusCorpus6.75
WholeBlood8.1
Wholebrain5.35
colon6.85
pineal_day9.94
pineal_night12.18
retina8.875
small_intestine6.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_509_PI416408490
  • 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
Amygdala6.72 ± 0.43
Basal Forebrain7.08 ± 0.19
Basal Part of Pons6.53 ± 0.35
Cerebellar Cortex6.74 ± 0.22
Cerebellar Nuclei6.9 ± 0.38
Claustrum7 ± 0.42
Epithalamus7.12 ± 0.35
Frontal Lobe6.54 ± 0.39
Globus Pallidus7.62 ± 0.14
Hypothalamus6.66 ± 0.34
Insula6.59 ± 0.25
Limbic Lobe6.63 ± 0.38
Mesencephalon6.91 ± 0.34
Myelencephalon6.78 ± 0.4
Occipital Lobe7.06 ± 0.41
Parietal Lobe6.79 ± 0.34
Pontine Tegmentum6.79 ± 0.44
Striatum6.93 ± 0.45
Subthalamus6.76 ± 0.23
Temporal Lobe6.69 ± 0.35
Thalamus6.79 ± 0.3
White Matter8.15 ± 0.47
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00480084 22 42 63 AADIDLYHCPNCEVLHGPSIMK 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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