AutismKB 2.0

Annotation Detail for PCDH17


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Basic Information Top
Gene Symbol:PCDH17 ( PCDH68,PCH68 )
Gene Full Name: protocadherin 17
Band: 13q21.1
Quick LinksEntrez ID:27253; OMIM: 611760; Uniprot ID:PCD17_HUMAN; ENSEMBL ID: ENSG00000118946; HGNC ID: 14267
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
blastocyst0 / 623190 
fetus35 / 56401262
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult29 / 193912114
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal114 / 336030733
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain53 / 110098948
cervix0 / 481710 
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart4 / 8962644
intestine0 / 2344720 
kidney2 / 2117779
larynx1 / 2414541
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth2 / 6705229
muscle2 / 10771518
nerve1 / 1576863
ovary2 / 10205119
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta5 / 28082517
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach4 / 9661941
testis14 / 33044242
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205656_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.15
Adipocyte3.4
AdrenalCortex3.65
Adrenalgland2.95
Amygdala8.4
Appendix5.45
AtrioventricularNode2.65
BDCA4+_DentriticCells3.65
Bonemarrow4
BronchialEpithelialCells3.35
CD105+_Endothelial3.55
CD14+_Monocytes3.55
CD19+_BCells(neg._sel.)3.7
CD33+_Myeloid4.4
CD34+4.35
CD4+_Tcells3.65
CD56+_NKCells4
CD71+_EarlyErythroid3.25
CD8+_Tcells3.25
CardiacMyocytes4.25
Caudatenucleus3.4
Cerebellum3.6
CerebellumPeduncles5.1
CiliaryGanglion2.75
CingulateCortex28.3
Colorectaladenocarcinoma3.45
DorsalRootGanglion2.65
FetalThyroid5.8
Fetalbrain8.65
Fetalliver3.45
Fetallung7.7
GlobusPallidus3
Heart4.45
Hypothalamus10.6
Kidney2.75
Leukemia_chronicMyelogenousK-5623.65
Leukemia_promyelocytic-HL-603.15
Leukemialymphoblastic(MOLT-4)2.75
Liver4.55
Lung7.95
Lymphnode3
Lymphoma_burkitts(Daudi)5.7
Lymphoma_burkitts(Raji)4.8
MedullaOblongata11
OccipitalLobe27.6
OlfactoryBulb2.8
Ovary3
Pancreas3.4
PancreaticIslet9.9
ParietalLobe12.45
Pituitary4.2
Placenta3.55
Pons9.05
PrefrontalCortex27.75
Prostate4.1
Salivarygland2.8
SkeletalMuscle3.9
Skin2.8
SmoothMuscle3.95
Spinalcord3.65
SubthalamicNucleus4.75
SuperiorCervicalGanglion6
TemporalLobe7.45
Testis21.95
TestisGermCell28.25
TestisIntersitial64.65
TestisLeydigCell8.3
TestisSeminiferousTubule8.95
Thalamus4.65
Thymus2.75
Thyroid4.35
Tongue3.45
Tonsil3.45
Trachea2.9
TrigeminalGanglion4.2
Uterus2.9
UterusCorpus3.85
WholeBlood3.7
Wholebrain18.35
colon3.45
pineal_day4.16
pineal_night4.12
retina7.3
small_intestine3.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_500_PI416408490
  • 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
Amygdala9.48 ± 0.52
Basal Forebrain9.24 ± 0.33
Basal Part of Pons8.24 ± 0.21
Cerebellar Cortex8.48 ± 0.33
Cerebellar Nuclei8.98 ± 0.28
Claustrum10.09 ± 0.4
Epithalamus8.97 ± 0.27
Frontal Lobe9.28 ± 0.38
Globus Pallidus9.38 ± 0.27
Hypothalamus9.4 ± 0.63
Insula9.18 ± 0.37
Limbic Lobe9.14 ± 0.63
Mesencephalon9.23 ± 0.45
Myelencephalon9.06 ± 0.51
Occipital Lobe8.57 ± 0.49
Parietal Lobe8.85 ± 0.46
Pontine Tegmentum9.18 ± 0.36
Striatum9.09 ± 0.64
Subthalamus8.63 ± 0.48
Temporal Lobe8.95 ± 0.45
Thalamus9.02 ± 0.37
White Matter9.49 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcdh17CBCerebellum31.23
62.12
Pcdh17CTXCerebral cortex77.36
71.81
Pcdh17HIPHippocampal region74.65
100
Pcdh17HPFHippocampal formation79.64
97.6
Pcdh17HYHypothalamus97.83
100
Pcdh17LSXLateral septal complex100
100
Pcdh17MBMidbrain61.6
68.63
Pcdh17MYMedulla60.76
85.71
Pcdh17OLFOlfactory bulb94.59
95.68
Pcdh17PPons62.23
83.12
Pcdh17PALPallidum67.45
82.59
Pcdh17RHPRetrohippocampal region87.78
89.34
Pcdh17sAMYStriatum-like amygdalar nuclei95.15
94.51
Pcdh17STRStriatum93.28
87.66
Pcdh17STRdStriatum dorsal region86.02
80.03
Pcdh17STRvStriatum ventral region100
96.3
Pcdh17THThalamus54.58
55.83
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