AutismKB 2.0

Annotation Detail for PKD1


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Basic Information Top
Gene Symbol:PKD1 ( PBP,Pc-1,TRPP1 )
Gene Full Name: polycystic kidney disease 1 (autosomal dominant)
Band: 16p13.3
Quick LinksEntrez ID:5310; OMIM: 601313; Uniprot ID:PKD1_HUMAN; ENSEMBL ID: ENSG00000008710; HGNC ID: 9008
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 body7 / 7076198
blastocyst1 / 6231916
fetus28 / 56401249
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult99 / 193912151
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 tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor7 / 26384526
glioma13 / 106883121
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia7 / 9584273
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal205 / 336030761
ovarian tumor7 / 7668291
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor12 / 12494996
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow2 / 4880140
brain101 / 110098991
cervix1 / 4817120
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye14 / 21105466
heart2 / 8962622
intestine12 / 23447251
kidney11 / 21177751
larynx0 / 241450 
liver0 / 2077430 
lung17 / 33697450
lymph2 / 4427045
lymph node8 / 9161087
mammary gland7 / 15327145
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary9 / 10205188
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate2 / 18934510
salivary gland1 / 2015549
skin18 / 21057485
spleen6 / 53952111
stomach4 / 9661941
testis14 / 33044242
thymus6 / 8113173
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202327_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.4
Adipocyte4.45
AdrenalCortex4.85
Adrenalgland3.8
Amygdala4.75
Appendix4.55
AtrioventricularNode3.55
BDCA4+_DentriticCells4.95
Bonemarrow4.5
BronchialEpithelialCells4.35
CD105+_Endothelial4.6
CD14+_Monocytes4.75
CD19+_BCells(neg._sel.)4.95
CD33+_Myeloid5.8
CD34+5.75
CD4+_Tcells4.9
CD56+_NKCells5.4
CD71+_EarlyErythroid4.25
CD8+_Tcells4.3
CardiacMyocytes5.85
Caudatenucleus4.15
Cerebellum4.25
CerebellumPeduncles5.15
CiliaryGanglion3.25
CingulateCortex4.6
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.5
FetalThyroid4.4
Fetalbrain4.5
Fetalliver3.9
Fetallung3.6
GlobusPallidus3.35
Heart5.75
Hypothalamus4.8
Kidney3.75
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604
Leukemialymphoblastic(MOLT-4)3.6
Liver6
Lung4.9
Lymphnode3.8
Lymphoma_burkitts(Daudi)5.75
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4.15
OccipitalLobe4
OlfactoryBulb3.55
Ovary3.5
Pancreas3.6
PancreaticIslet5.15
ParietalLobe4.8
Pituitary5.3
Placenta4.55
Pons5.7
PrefrontalCortex5.65
Prostate5.25
Salivarygland3.65
SkeletalMuscle5.4
Skin3.5
SmoothMuscle5.1
Spinalcord4.8
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.2
TemporalLobe4.75
Testis3.85
TestisGermCell3.7
TestisIntersitial3.75
TestisLeydigCell4.4
TestisSeminiferousTubule3.85
Thalamus4.6
Thymus3.55
Thyroid5.6
Tongue4.5
Tonsil4.35
Trachea3.8
TrigeminalGanglion4.65
Uterus3.65
UterusCorpus4.05
WholeBlood4.9
Wholebrain3.8
colon4.5
pineal_day5.64
pineal_night5.52
retina5.425
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P916006
  • 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
Amygdala5.78 ± 0.51
Basal Forebrain5.09 ± 0.37
Basal Part of Pons5.5 ± 0.63
Cerebellar Cortex5.95 ± 0.42
Cerebellar Nuclei4.76 ± 0.46
Claustrum5.9 ± 0.92
Epithalamus4.65 ± 0.62
Frontal Lobe5.03 ± 0.64
Globus Pallidus4.62 ± 0.44
Hypothalamus4.76 ± 0.5
Insula4.9 ± 0.68
Limbic Lobe5.64 ± 0.73
Mesencephalon5.15 ± 0.64
Myelencephalon5.29 ± 0.69
Occipital Lobe6 ± 0.69
Parietal Lobe5.28 ± 0.48
Pontine Tegmentum5.03 ± 0.66
Striatum4.84 ± 0.59
Subthalamus4.18 ± 0.37
Temporal Lobe5.18 ± 0.62
Thalamus5.07 ± 0.67
White Matter4.86 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pkd1CBCerebellum100
100
Pkd1CTXCerebral cortex100
100
Pkd1HIPHippocampal region100
100
Pkd1HPFHippocampal formation100
100
Pkd1HYHypothalamus100
100
Pkd1LSXLateral septal complex100
100
Pkd1MBMidbrain100
100
Pkd1MYMedulla90.86
97.8
Pkd1OLFOlfactory bulb100
100
Pkd1PPons95.38
92.94
Pkd1PALPallidum100
100
Pkd1RHPRetrohippocampal region100
100
Pkd1sAMYStriatum-like amygdalar nuclei100
100
Pkd1STRStriatum100
100
Pkd1STRdStriatum dorsal region100
100
Pkd1STRvStriatum ventral region100
100
Pkd1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PKD1_HUMAN_3831 15 3831 3845 DRLRFLQLHNWLDNR PRIDE

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