AutismKB 2.0

Annotation Detail for PLCH1


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Basic Information Top
Gene Symbol:PLCH1 ( DKFZp434C1372,MGC117152,PLCL3 )
Gene Full Name: phospholipase C, eta 1
Band: 3q25.31
Quick LinksEntrez ID:23007; OMIM: 612835; Uniprot ID:PLCH1_HUMAN; ENSEMBL ID: ENSG00000114805; HGNC ID: 29185
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 body1 / 7076114
blastocyst3 / 6231948
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult17 / 19391218
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal56 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine3 / 23447212
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis16 / 33044248
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216634_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.1
Adipocyte6.15
AdrenalCortex7.5
Adrenalgland5.95
Amygdala6.9
Appendix6.45
AtrioventricularNode5.25
BDCA4+_DentriticCells6.5
Bonemarrow6.8
BronchialEpithelialCells6.05
CD105+_Endothelial6.3
CD14+_Monocytes6.7
CD19+_BCells(neg._sel.)6.45
CD33+_Myeloid7.55
CD34+7.4
CD4+_Tcells6.3
CD56+_NKCells7.15
CD71+_EarlyErythroid6
CD8+_Tcells5.6
CardiacMyocytes8.5
Caudatenucleus5.75
Cerebellum5.35
CerebellumPeduncles8.4
CiliaryGanglion4.75
CingulateCortex6.85
Colorectaladenocarcinoma6.25
DorsalRootGanglion5.05
FetalThyroid6.25
Fetalbrain6.45
Fetalliver5.65
Fetallung5
GlobusPallidus5.4
Heart13.95
Hypothalamus7
Kidney5.85
Leukemia_chronicMyelogenousK-5625.65
Leukemia_promyelocytic-HL-605.65
Leukemialymphoblastic(MOLT-4)5.2
Liver9.4
Lung6.8
Lymphnode5.4
Lymphoma_burkitts(Daudi)8.35
Lymphoma_burkitts(Raji)9.55
MedullaOblongata5.95
OccipitalLobe5.8
OlfactoryBulb5
Ovary4.25
Pancreas5.3
PancreaticIslet6.85
ParietalLobe8.35
Pituitary7.45
Placenta6.15
Pons6.65
PrefrontalCortex8.1
Prostate7.4
Salivarygland5.15
SkeletalMuscle7.9
Skin5
SmoothMuscle7.15
Spinalcord6.9
SubthalamicNucleus6
SuperiorCervicalGanglion7.6
TemporalLobe6.05
Testis5.55
TestisGermCell4.9
TestisIntersitial5.35
TestisLeydigCell6.4
TestisSeminiferousTubule5.4
Thalamus6.8
Thymus4.7
Thyroid7.55
Tongue7.2
Tonsil6.3
Trachea5.4
TrigeminalGanglion6.4
Uterus5.05
UterusCorpus5.8
WholeBlood6.95
Wholebrain5.4
colon6.5
pineal_day7.66
pineal_night7.58
retina7.7
small_intestine6.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P339240
  • 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
Amygdala5.83 ± 0.53
Basal Forebrain6.26 ± 0.37
Basal Part of Pons4.8 ± 0.56
Cerebellar Cortex6.09 ± 0.64
Cerebellar Nuclei5.11 ± 0.71
Claustrum5.83 ± 0.76
Epithalamus7.45 ± 0.47
Frontal Lobe6.54 ± 0.6
Globus Pallidus4.88 ± 0.81
Hypothalamus6.24 ± 0.47
Insula6.52 ± 0.55
Limbic Lobe5.83 ± 0.9
Mesencephalon6.53 ± 0.82
Myelencephalon6.03 ± 0.93
Occipital Lobe5.27 ± 0.88
Parietal Lobe6.03 ± 0.72
Pontine Tegmentum6.23 ± 0.68
Striatum5.57 ± 0.66
Subthalamus5.36 ± 0.6
Temporal Lobe5.76 ± 0.56
Thalamus6.44 ± 0.61
White Matter2.83 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plch1CBCerebellum2.28
2.83
Plch1CTXCerebral cortex0.86
0.91
Plch1HIPHippocampal region0.52
0.64
Plch1HPFHippocampal formation4.95
5.01
Plch1HYHypothalamus2.25
1.92
Plch1LSXLateral septal complex0.86
0.71
Plch1MBMidbrain2.95
2.9
Plch1MYMedulla2.35
2.64
Plch1OLFOlfactory bulb1.71
2.58
Plch1PPons1.86
2.37
Plch1PALPallidum1.22
1.25
Plch1RHPRetrohippocampal region11.39
10.25
Plch1sAMYStriatum-like amygdalar nuclei0.82
0.65
Plch1STRStriatum0.3
0.27
Plch1STRdStriatum dorsal region0.16
0.18
Plch1STRvStriatum ventral region0.25
0.2
Plch1THThalamus4.11
3.78
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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