AutismKB 2.0

Annotation Detail for PLEKHG2


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Basic Information Top
Gene Symbol:PLEKHG2 ( ARHGEF42,CLG,DKFZp667J2325,FLJ00018,FLJ22458,FLJ38638 )
Gene Full Name: pleckstrin homology domain containing, family G (with RhoGef domain) member 2
Band: 19q13.2
Quick LinksEntrez ID:64857; OMIM: 611893; Uniprot ID:PKHG2_HUMAN; ENSEMBL ID: ENSG00000090924; HGNC ID: 29515
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 body3 / 7076142
blastocyst3 / 6231948
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult78 / 193912140
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) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor11 / 26384541
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor11 / 103127106
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal82 / 336030724
ovarian tumor4 / 7668252
pancreatic tumor39 / 104616372
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood4 / 12347832
bone4 / 7165555
bone marrow0 / 488010 
brain16 / 110098914
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine7 / 23447229
kidney12 / 21177756
larynx0 / 241450 
liver1 / 2077434
lung30 / 33697489
lymph1 / 4427022
lymph node10 / 91610109
mammary gland3 / 15327119
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary5 / 10205148
pancreas39 / 214812181
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate1 / 1893455
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach2 / 9661920
testis21 / 33044263
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus13 / 23287855
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_4992_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
Amygdala1.95 ± 1.05
Basal Forebrain1.44 ± 0.2
Basal Part of Pons1.32 ± 0.41
Cerebellar Cortex1.52 ± 0.66
Cerebellar Nuclei1.8 ± 0.68
Claustrum2.18 ± 0.61
Epithalamus1.1 ± 0.77
Frontal Lobe1.44 ± 0.7
Globus Pallidus1.77 ± 0.43
Hypothalamus1.49 ± 0.73
Insula1.39 ± 0.65
Limbic Lobe1.59 ± 0.69
Mesencephalon1.7 ± 0.62
Myelencephalon1.53 ± 0.66
Occipital Lobe1.51 ± 0.57
Parietal Lobe1.55 ± 0.7
Pontine Tegmentum1.59 ± 0.66
Striatum1.59 ± 0.56
Subthalamus1.62 ± 0.56
Temporal Lobe1.48 ± 0.66
Thalamus1.53 ± 0.6
White Matter1.82 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekhg2CBCerebellum18.2
20.02
Plekhg2CTXCerebral cortex1.7
1.52
Plekhg2HIPHippocampal region3.51
3.23
Plekhg2HPFHippocampal formation2.74
2.58
Plekhg2HYHypothalamus1.74
1.41
Plekhg2LSXLateral septal complex4.99
4.92
Plekhg2MBMidbrain2.64
3.01
Plekhg2MYMedulla7.26
6.87
Plekhg2OLFOlfactory bulb11.48
10.01
Plekhg2PPons6
5.53
Plekhg2PALPallidum1.42
1.34
Plekhg2RHPRetrohippocampal region1.78
1.82
Plekhg2sAMYStriatum-like amygdalar nuclei1.6
1.65
Plekhg2STRStriatum2.5
2.13
Plekhg2STRdStriatum dorsal region1.57
1.35
Plekhg2STRvStriatum ventral region4.04
2.44
Plekhg2THThalamus2.18
2.09
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