AutismKB 2.0

Annotation Detail for PLEKHG1


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Basic Information Top
Gene Symbol:PLEKHG1 ( ARHGEF41,FLJ31738,KIAA1209 )
Gene Full Name: pleckstrin homology domain containing, family G (with RhoGef domain) member 1
Band: 6q25.1
Quick LinksEntrez ID:57480; OMIM: NA; Uniprot ID:PKHG1_HUMAN; ENSEMBL ID: ENSG00000120278; HGNC ID: 20884
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 body2 / 7076128
blastocyst2 / 6231932
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult34 / 193912117
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia2 / 9725020
normal82 / 336030724
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine0 / 2344720 
kidney4 / 21177718
larynx1 / 2414541
liver1 / 2077434
lung11 / 33697432
lymph2 / 4427045
lymph node10 / 91610109
mammary gland2 / 15327113
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen7 / 53952129
stomach2 / 9661920
testis6 / 33044218
thymus4 / 8113149
thyroid0 / 474730 
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus4 / 23287817
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_11305_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
Amygdala1.87 ± 1
Basal Forebrain1.34 ± 0.24
Basal Part of Pons1.61 ± 0.46
Cerebellar Cortex1.21 ± 0.62
Cerebellar Nuclei1.84 ± 0.69
Claustrum2.12 ± 0.73
Epithalamus1.34 ± 0.76
Frontal Lobe1.42 ± 0.66
Globus Pallidus2.5 ± 0.62
Hypothalamus1.55 ± 0.78
Insula1.29 ± 0.44
Limbic Lobe1.47 ± 0.72
Mesencephalon1.74 ± 0.82
Myelencephalon1.56 ± 0.69
Occipital Lobe1.89 ± 0.68
Parietal Lobe1.63 ± 0.93
Pontine Tegmentum1.65 ± 0.78
Striatum1.7 ± 0.57
Subthalamus1.54 ± 0.64
Temporal Lobe1.46 ± 0.65
Thalamus1.79 ± 0.51
White Matter3.46 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekhg1CBCerebellum2.73
2.86
Plekhg1CTXCerebral cortex1.61
1.45
Plekhg1HIPHippocampal region7.04
8.72
Plekhg1HPFHippocampal formation4.73
4.93
Plekhg1HYHypothalamus5.61
8.55
Plekhg1LSXLateral septal complex1.27
0.92
Plekhg1MBMidbrain3.25
3.46
Plekhg1MYMedulla2.5
2.24
Plekhg1OLFOlfactory bulb2.39
2.34
Plekhg1PPons2.08
1.83
Plekhg1PALPallidum1.19
0.81
Plekhg1RHPRetrohippocampal region2.49
1.65
Plekhg1sAMYStriatum-like amygdalar nuclei1.07
0.66
Plekhg1STRStriatum1.33
0.87
Plekhg1STRdStriatum dorsal region1.31
0.92
Plekhg1STRvStriatum ventral region1.51
0.8
Plekhg1THThalamus89.16
100
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