AutismKB 2.0

Annotation Detail for PHACTR2


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Basic Information Top
Gene Symbol:PHACTR2 ( C6orf56,DKFZp686F18175,KIAA0680,MGC176642 )
Gene Full Name: phosphatase and actin regulator 2
Band: 6q24.2
Quick LinksEntrez ID:9749; OMIM: 608724; Uniprot ID:PHAR2_HUMAN; ENSEMBL ID: ENSG00000112419; HGNC ID: 20956
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
blastocyst3 / 6231948
fetus28 / 56401249
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult104 / 193912153
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal151 / 336030744
ovarian tumor5 / 7668265
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood4 / 12347832
bone5 / 7165569
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye6 / 21105428
heart5 / 8962655
intestine5 / 23447221
kidney7 / 21177733
larynx0 / 241450 
liver7 / 20774333
lung15 / 33697444
lymph0 / 442700 
lymph node1 / 9161010
mammary gland5 / 15327132
mouth1 / 6705214
muscle3 / 10771527
nerve2 / 15768126
ovary5 / 10205148
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta54 / 280825192
prostate3 / 18934515
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach4 / 9661941
testis3 / 3304429
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204048_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.45
Adipocyte28.3
AdrenalCortex60.1
Adrenalgland20.25
Amygdala13.8
Appendix19.8
AtrioventricularNode9.3
BDCA4+_DentriticCells39.95
Bonemarrow11.15
BronchialEpithelialCells15.1
CD105+_Endothelial16.2
CD14+_Monocytes18.4
CD19+_BCells(neg._sel.)12.2
CD33+_Myeloid106.4
CD34+38.25
CD4+_Tcells76.9
CD56+_NKCells60.15
CD71+_EarlyErythroid8.8
CD8+_Tcells57.4
CardiacMyocytes53.05
Caudatenucleus9.65
Cerebellum7.55
CerebellumPeduncles12.75
CiliaryGanglion8.65
CingulateCortex12.35
Colorectaladenocarcinoma11.95
DorsalRootGanglion11.6
FetalThyroid30.65
Fetalbrain11.15
Fetalliver12.7
Fetallung11.15
GlobusPallidus8.1
Heart15.55
Hypothalamus11.75
Kidney9.85
Leukemia_chronicMyelogenousK-56210.8
Leukemia_promyelocytic-HL-608
Leukemialymphoblastic(MOLT-4)8.2
Liver15.9
Lung13.2
Lymphnode10.65
Lymphoma_burkitts(Daudi)12.35
Lymphoma_burkitts(Raji)16.65
MedullaOblongata10.35
OccipitalLobe9.5
OlfactoryBulb19.35
Ovary9.4
Pancreas9.8
PancreaticIslet25.25
ParietalLobe11.15
Pituitary28.65
Placenta65.25
Pons10.65
PrefrontalCortex16.6
Prostate55.9
Salivarygland9.25
SkeletalMuscle15.2
Skin10
SmoothMuscle75.7
Spinalcord10.2
SubthalamicNucleus10.45
SuperiorCervicalGanglion29.4
TemporalLobe9.8
Testis8.1
TestisGermCell14.95
TestisIntersitial12.45
TestisLeydigCell11.05
TestisSeminiferousTubule8.1
Thalamus9.7
Thymus9.05
Thyroid39.95
Tongue20.95
Tonsil11.85
Trachea17.45
TrigeminalGanglion20.2
Uterus54.1
UterusCorpus12.65
WholeBlood13.55
Wholebrain9.55
colon34.2
pineal_day13.08
pineal_night19.36
retina22.3
small_intestine17.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P111240
  • 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
Amygdala7.17 ± 0.59
Basal Forebrain6.87 ± 0.36
Basal Part of Pons7.71 ± 0.39
Cerebellar Cortex7.22 ± 0.67
Cerebellar Nuclei7.41 ± 0.38
Claustrum7.97 ± 0.88
Epithalamus7.02 ± 0.52
Frontal Lobe7.24 ± 0.5
Globus Pallidus7.26 ± 0.23
Hypothalamus6.88 ± 0.39
Insula7.2 ± 0.4
Limbic Lobe7.44 ± 0.77
Mesencephalon7.2 ± 0.52
Myelencephalon7.32 ± 0.64
Occipital Lobe7.95 ± 0.8
Parietal Lobe7.22 ± 0.46
Pontine Tegmentum7.21 ± 0.47
Striatum6.83 ± 0.51
Subthalamus6.74 ± 0.19
Temporal Lobe7.07 ± 0.43
Thalamus7.94 ± 0.6
White Matter6.53 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phactr2CBCerebellum17.96
41.81
Phactr2CTXCerebral cortex1.89
1.76
Phactr2HIPHippocampal region10.37
13.04
Phactr2HPFHippocampal formation8.58
10.05
Phactr2HYHypothalamus2.24
2.12
Phactr2LSXLateral septal complex31.04
28.69
Phactr2MBMidbrain1.46
1.82
Phactr2MYMedulla3.35
7.24
Phactr2OLFOlfactory bulb28.87
26.49
Phactr2PPons1.45
1.83
Phactr2PALPallidum1.78
1.7
Phactr2RHPRetrohippocampal region5.82
5.93
Phactr2sAMYStriatum-like amygdalar nuclei10.49
8.51
Phactr2STRStriatum3.72
3.74
Phactr2STRdStriatum dorsal region0.41
1.22
Phactr2STRvStriatum ventral region1.19
1.1
Phactr2THThalamus21.83
18.87
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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