AutismKB 2.0

Annotation Detail for PHTF2


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Basic Information Top
Gene Symbol:PHTF2 ( DKFZp564F013,FLJ33324,MGC86999 )
Gene Full Name: putative homeodomain transcription factor 2
Band: 7q11.23-q21.11
Quick LinksEntrez ID:57157; OMIM: NA; Uniprot ID:PHTF2_HUMAN; ENSEMBL ID: ENSG00000006576; HGNC ID: 13411
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
blastocyst0 / 623190 
fetus18 / 56401231
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult63 / 193912132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor9 / 26384534
glioma4 / 10688337
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal100 / 336030729
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone3 / 7165541
bone marrow0 / 488010 
brain24 / 110098921
cervix3 / 4817162
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine3 / 23447212
kidney7 / 21177733
larynx1 / 2414541
liver4 / 20774319
lung11 / 33697432
lymph1 / 4427022
lymph node10 / 91610109
mammary gland6 / 15327139
mouth2 / 6705229
muscle8 / 10771574
nerve0 / 157680 
ovary1 / 1020519
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate0 / 1893450 
salivary gland4 / 20155198
skin1 / 2105744
spleen0 / 539520 
stomach5 / 9661951
testis17 / 33044251
thymus5 / 8113161
thyroid3 / 4747363
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209780_at
Cell line Expression level Expression bar
721_B_lymphoblasts170.45
Adipocyte12.5
AdrenalCortex18.15
Adrenalgland12.25
Amygdala25.6
Appendix32.6
AtrioventricularNode17
BDCA4+_DentriticCells94.7
Bonemarrow18.6
BronchialEpithelialCells24
CD105+_Endothelial13.95
CD14+_Monocytes57.25
CD19+_BCells(neg._sel.)209.9
CD33+_Myeloid65.85
CD34+76.65
CD4+_Tcells98.2
CD56+_NKCells89.5
CD71+_EarlyErythroid12.85
CD8+_Tcells56.9
CardiacMyocytes42.35
Caudatenucleus11.95
Cerebellum10.9
CerebellumPeduncles17.85
CiliaryGanglion17.2
CingulateCortex14.4
Colorectaladenocarcinoma62.65
DorsalRootGanglion15.75
FetalThyroid15.6
Fetalbrain23.05
Fetalliver12.8
Fetallung18
GlobusPallidus13.05
Heart29.3
Hypothalamus13.5
Kidney12.3
Leukemia_chronicMyelogenousK-56242.6
Leukemia_promyelocytic-HL-6035.45
Leukemialymphoblastic(MOLT-4)9.55
Liver27.5
Lung12.9
Lymphnode60.85
Lymphoma_burkitts(Daudi)42.3
Lymphoma_burkitts(Raji)65.2
MedullaOblongata15.1
OccipitalLobe13.15
OlfactoryBulb9.4
Ovary15.75
Pancreas12.35
PancreaticIslet30.5
ParietalLobe17.85
Pituitary16.3
Placenta12.5
Pons13.25
PrefrontalCortex17.2
Prostate21.75
Salivarygland13.65
SkeletalMuscle37.05
Skin17.45
SmoothMuscle31.25
Spinalcord26.8
SubthalamicNucleus14.15
SuperiorCervicalGanglion33.45
TemporalLobe13.7
Testis9.4
TestisGermCell13.3
TestisIntersitial29.7
TestisLeydigCell15.85
TestisSeminiferousTubule12.3
Thalamus15.45
Thymus9.4
Thyroid40.65
Tongue36.1
Tonsil18.55
Trachea10.6
TrigeminalGanglion26.8
Uterus26.85
UterusCorpus16.5
WholeBlood48.65
Wholebrain12.55
colon20.45
pineal_day15.64
pineal_night16.64
retina16.425
small_intestine12.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P409919
  • 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
Amygdala5.96 ± 0.32
Basal Forebrain5.91 ± 0.26
Basal Part of Pons5.68 ± 0.35
Cerebellar Cortex5.75 ± 0.39
Cerebellar Nuclei5.51 ± 0.49
Claustrum5.84 ± 0.8
Epithalamus5.49 ± 0.41
Frontal Lobe5.71 ± 0.39
Globus Pallidus5.82 ± 0.23
Hypothalamus5.42 ± 0.52
Insula5.92 ± 0.35
Limbic Lobe5.9 ± 0.36
Mesencephalon5.79 ± 0.41
Myelencephalon5.74 ± 0.39
Occipital Lobe5.9 ± 0.35
Parietal Lobe5.86 ± 0.37
Pontine Tegmentum5.79 ± 0.48
Striatum5.78 ± 0.39
Subthalamus5.35 ± 0.37
Temporal Lobe5.82 ± 0.35
Thalamus5.62 ± 0.38
White Matter6.89 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phtf2CBCerebellum17.88
41.17
Phtf2CTXCerebral cortex39.35
29.11
Phtf2HIPHippocampal region24.22
24.65
Phtf2HPFHippocampal formation24.46
23.03
Phtf2HYHypothalamus15.64
12.73
Phtf2LSXLateral septal complex5.09
3.5
Phtf2MBMidbrain10.63
10.96
Phtf2MYMedulla7.5
11.19
Phtf2OLFOlfactory bulb33
28.64
Phtf2PPons14.49
18.52
Phtf2PALPallidum10.91
10.36
Phtf2RHPRetrohippocampal region26.1
21.85
Phtf2sAMYStriatum-like amygdalar nuclei6.31
5.28
Phtf2STRStriatum7.49
6.32
Phtf2STRdStriatum dorsal region6.91
5.58
Phtf2STRvStriatum ventral region10.48
9.38
Phtf2THThalamus26.27
22.01
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


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