AutismKB 2.0

Annotation Detail for PTCH1


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Basic Information Top
Gene Symbol:PTCH1 ( BCNS,FLJ26746,FLJ42602,HPE7,NBCCS,PTC,PTC1,PTCH,PTCH11 )
Gene Full Name: patched 1
Band: 9q22.32
Quick LinksEntrez ID:5727; OMIM: 601309; Uniprot ID:PTC1_HUMAN; ENSEMBL ID: ENSG00000185920; HGNC ID: 9585
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
blastocyst1 / 6231916
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult32 / 193912116
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 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma6 / 10688356
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal64 / 336030719
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain30 / 110098927
cervix0 / 481710 
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye2 / 2110549
heart1 / 8962611
intestine6 / 23447225
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach1 / 9661910
testis16 / 33044248
thymus0 / 811310 
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: 208522_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.7
Adipocyte14.2
AdrenalCortex12.35
Adrenalgland8.25
Amygdala8.45
Appendix10.05
AtrioventricularNode9.75
BDCA4+_DentriticCells9.7
Bonemarrow10.65
BronchialEpithelialCells7.05
CD105+_Endothelial9.15
CD14+_Monocytes9.5
CD19+_BCells(neg._sel.)9.5
CD33+_Myeloid11.5
CD34+11.7
CD4+_Tcells7.95
CD56+_NKCells10.2
CD71+_EarlyErythroid8.7
CD8+_Tcells8.15
CardiacMyocytes11.75
Caudatenucleus8.2
Cerebellum7.75
CerebellumPeduncles11.25
CiliaryGanglion9.4
CingulateCortex9.9
Colorectaladenocarcinoma9.05
DorsalRootGanglion9.45
FetalThyroid9.15
Fetalbrain8.6
Fetalliver7.95
Fetallung7.1
GlobusPallidus8.3
Heart22.85
Hypothalamus9.95
Kidney8.45
Leukemia_chronicMyelogenousK-5628.2
Leukemia_promyelocytic-HL-608
Leukemialymphoblastic(MOLT-4)7.3
Liver13.55
Lung10.05
Lymphnode7.6
Lymphoma_burkitts(Daudi)12.05
Lymphoma_burkitts(Raji)14
MedullaOblongata8.15
OccipitalLobe8.2
OlfactoryBulb7.25
Ovary7.45
Pancreas8.1
PancreaticIslet9.75
ParietalLobe9.5
Pituitary10.95
Placenta9.4
Pons8.85
PrefrontalCortex11.8
Prostate10.55
Salivarygland8.85
SkeletalMuscle12.75
Skin9.05
SmoothMuscle10.2
Spinalcord9.65
SubthalamicNucleus8.65
SuperiorCervicalGanglion12.55
TemporalLobe8.25
Testis7.85
TestisGermCell6.85
TestisIntersitial7.65
TestisLeydigCell9.85
TestisSeminiferousTubule8.05
Thalamus9.55
Thymus6.7
Thyroid10.35
Tongue10.8
Tonsil8.8
Trachea7.65
TrigeminalGanglion9.9
Uterus6.95
UterusCorpus9.5
WholeBlood9.6
Wholebrain7.7
colon9.1
pineal_day10.78
pineal_night10.6
retina11.075
small_intestine8.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P106910
  • 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
Amygdala5.33 ± 0.67
Basal Forebrain5.57 ± 0.2
Basal Part of Pons3.73 ± 0.44
Cerebellar Cortex5.69 ± 0.47
Cerebellar Nuclei4.21 ± 0.62
Claustrum5.4 ± 0.85
Epithalamus5.32 ± 0.56
Frontal Lobe4.69 ± 0.67
Globus Pallidus5.56 ± 0.63
Hypothalamus5.94 ± 0.77
Insula5.24 ± 0.74
Limbic Lobe4.72 ± 0.69
Mesencephalon5.39 ± 0.61
Myelencephalon4.98 ± 0.85
Occipital Lobe5.11 ± 0.66
Parietal Lobe4.96 ± 0.65
Pontine Tegmentum5.12 ± 0.47
Striatum4.06 ± 0.66
Subthalamus5.15 ± 0.83
Temporal Lobe4.92 ± 0.58
Thalamus4.97 ± 0.68
White Matter5.72 ± 0.65
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ptch1CBCerebellum27.91
70.73
Ptch1CTXCerebral cortex6
4.08
Ptch1HIPHippocampal region3.63
3.15
Ptch1HPFHippocampal formation3.85
3.15
Ptch1HYHypothalamus11.15
7.58
Ptch1LSXLateral septal complex24.26
16.36
Ptch1MBMidbrain4.52
3.73
Ptch1MYMedulla11.98
11.76
Ptch1OLFOlfactory bulb15.99
12.02
Ptch1PPons5.35
4.88
Ptch1PALPallidum10.31
8
Ptch1RHPRetrohippocampal region4.11
3
Ptch1sAMYStriatum-like amygdalar nuclei9.99
6.67
Ptch1STRStriatum9.76
6.42
Ptch1STRdStriatum dorsal region8.07
5.41
Ptch1STRvStriatum ventral region11.44
6.92
Ptch1THThalamus2.77
2.2
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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