AutismKB 2.0

Annotation Detail for PLEKHG4


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Basic Information Top
Gene Symbol:PLEKHG4 ( ARHGEF44,DKFZp434I216,PRTPHN1,SCA4 )
Gene Full Name: pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Band: 16q22.1
Quick LinksEntrez ID:25894; OMIM: 609526; Uniprot ID:PKHG4_HUMAN; ENSEMBL ID: ENSG00000196155; HGNC ID: 24501
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 
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult22 / 193912111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal62 / 336030718
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor11 / 12494988
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 
blood11 / 12347889
bone1 / 7165513
bone marrow1 / 4880120
brain9 / 11009898
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye7 / 21105433
heart5 / 8962655
intestine3 / 23447212
kidney3 / 21177714
larynx2 / 2414582
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate0 / 1893450 
salivary gland0 / 201550 
skin17 / 21057480
spleen1 / 5395218
stomach0 / 966190 
testis51 / 330442154
thymus2 / 8113124
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P345460
  • 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
Amygdala2.84 ± 0.94
Basal Forebrain2.71 ± 0.29
Basal Part of Pons2.77 ± 0.65
Cerebellar Cortex2.65 ± 0.44
Cerebellar Nuclei3.3 ± 0.68
Claustrum2.66 ± 0.67
Epithalamus2.45 ± 0.81
Frontal Lobe2.71 ± 0.75
Globus Pallidus4.18 ± 0.81
Hypothalamus3.29 ± 0.64
Insula2.47 ± 0.5
Limbic Lobe2.59 ± 0.79
Mesencephalon2.92 ± 0.8
Myelencephalon2.75 ± 0.77
Occipital Lobe2.68 ± 0.8
Parietal Lobe2.78 ± 0.75
Pontine Tegmentum2.78 ± 0.62
Striatum2.95 ± 0.6
Subthalamus3.62 ± 1.35
Temporal Lobe2.42 ± 0.7
Thalamus2.66 ± 0.67
White Matter5.19 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekhg4CBCerebellum5.44
7.02
Plekhg4CTXCerebral cortex3.27
2.57
Plekhg4HIPHippocampal region1.71
1.55
Plekhg4HPFHippocampal formation1.4
1.24
Plekhg4HYHypothalamus1.02
1.35
Plekhg4LSXLateral septal complex0.35
0.19
Plekhg4MBMidbrain1.72
1.65
Plekhg4MYMedulla4.24
4.48
Plekhg4OLFOlfactory bulb5.37
3.7
Plekhg4PPons1.7
1.92
Plekhg4PALPallidum0.72
0.82
Plekhg4RHPRetrohippocampal region0.84
0.82
Plekhg4sAMYStriatum-like amygdalar nuclei3
1.94
Plekhg4STRStriatum1.96
1.42
Plekhg4STRdStriatum dorsal region1.41
1.14
Plekhg4STRvStriatum ventral region3.9
2.46
Plekhg4THThalamus1.32
1.33
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