AutismKB 2.0

Annotation Detail for PHACTR1


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Basic Information Top
Gene Symbol:PHACTR1 ( KIAA1733,MGC126575,MGC126577,RPEL,RPEL1,dJ257A7.2 )
Gene Full Name: phosphatase and actin regulator 1
Band: 6p24.1
Quick LinksEntrez ID:221692; OMIM: 608723; Uniprot ID:PHAR1_HUMAN; ENSEMBL ID: ENSG00000112137; HGNC ID: 20990
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 body0 / 707610 
blastocyst1 / 6231916
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult22 / 193912111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal58 / 336030717
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow2 / 4880140
brain25 / 110098922
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye7 / 21105433
heart1 / 8962611
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node8 / 9161087
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12955_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
Amygdala7.4 ± 0.71
Basal Forebrain7.23 ± 0.57
Basal Part of Pons6.79 ± 0.5
Cerebellar Cortex6.01 ± 0.2
Cerebellar Nuclei5.58 ± 0.67
Claustrum6.48 ± 0.71
Epithalamus6.57 ± 0.94
Frontal Lobe6.64 ± 0.57
Globus Pallidus5.35 ± 1.21
Hypothalamus6.08 ± 0.69
Insula6.78 ± 0.28
Limbic Lobe7.05 ± 0.63
Mesencephalon6.35 ± 0.63
Myelencephalon6.55 ± 0.69
Occipital Lobe6.79 ± 0.39
Parietal Lobe6.75 ± 0.51
Pontine Tegmentum6.65 ± 0.8
Striatum8.34 ± 0.54
Subthalamus6.57 ± 0.65
Temporal Lobe6.81 ± 0.38
Thalamus5.85 ± 0.56
White Matter5.13 ± 1.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phactr1CBCerebellum15.47
17.22
Phactr1CTXCerebral cortex100
100
Phactr1HIPHippocampal region82.99
100
Phactr1HPFHippocampal formation97.04
100
Phactr1HYHypothalamus21.88
18.15
Phactr1LSXLateral septal complex100
100
Phactr1MBMidbrain15.62
15.25
Phactr1MYMedulla32.73
38.23
Phactr1OLFOlfactory bulb93.03
98.07
Phactr1PPons20.02
21.42
Phactr1PALPallidum44.08
54.47
Phactr1RHPRetrohippocampal region100
100
Phactr1sAMYStriatum-like amygdalar nuclei73.84
71.03
Phactr1STRStriatum100
100
Phactr1STRdStriatum dorsal region100
100
Phactr1STRvStriatum ventral region100
100
Phactr1THThalamus13.48
14.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00080703 20 251 270 VPCSTSYHSSGLHSGDGVTK 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