AutismKB 2.0

Annotation Detail for NPHP1


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Basic Information Top
Gene Symbol:NPHP1 ( FLJ97602,JBTS4,NPH1,SLSN1 )
Gene Full Name: nephronophthisis 1 (juvenile)
Band: 2q13
Quick LinksEntrez ID:4867; OMIM: 607100; Uniprot ID:NPHP1_HUMAN; ENSEMBL ID: ENSG00000144061; HGNC ID: 7905
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 body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult20 / 193912110
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 
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal50 / 336030714
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
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 
brain8 / 11009897
cervix1 / 4817120
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye4 / 21105418
heart3 / 8962633
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis23 / 33044269
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206285_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.15
Adipocyte8.3
AdrenalCortex10
Adrenalgland7.55
Amygdala8.3
Appendix9.45
AtrioventricularNode8.8
BDCA4+_DentriticCells7.95
Bonemarrow9.05
BronchialEpithelialCells7.5
CD105+_Endothelial8.05
CD14+_Monocytes8.8
CD19+_BCells(neg._sel.)8.3
CD33+_Myeloid10.1
CD34+9.85
CD4+_Tcells8.25
CD56+_NKCells8.6
CD71+_EarlyErythroid8
CD8+_Tcells7.3
CardiacMyocytes12.25
Caudatenucleus7.5
Cerebellum6.9
CerebellumPeduncles10.65
CiliaryGanglion7.55
CingulateCortex9.45
Colorectaladenocarcinoma8.2
DorsalRootGanglion7.65
FetalThyroid8.7
Fetalbrain7.95
Fetalliver7.6
Fetallung6.2
GlobusPallidus7
Heart12.3
Hypothalamus8.65
Kidney10.35
Leukemia_chronicMyelogenousK-5627.5
Leukemia_promyelocytic-HL-607.4
Leukemialymphoblastic(MOLT-4)6.45
Liver13
Lung8.75
Lymphnode6.85
Lymphoma_burkitts(Daudi)11.1
Lymphoma_burkitts(Raji)12.5
MedullaOblongata7.5
OccipitalLobe7.4
OlfactoryBulb6.45
Ovary6.85
Pancreas6.7
PancreaticIslet8.85
ParietalLobe9.8
Pituitary9.75
Placenta7.9
Pons12.2
PrefrontalCortex9.7
Prostate9.5
Salivarygland6.85
SkeletalMuscle11.55
Skin8.5
SmoothMuscle9.15
Spinalcord8.75
SubthalamicNucleus7.85
SuperiorCervicalGanglion14.55
TemporalLobe8.1
Testis7.15
TestisGermCell6.6
TestisIntersitial7.15
TestisLeydigCell8.7
TestisSeminiferousTubule7.15
Thalamus9.7
Thymus6
Thyroid9.9
Tongue9.35
Tonsil8.4
Trachea6.95
TrigeminalGanglion11.35
Uterus6.3
UterusCorpus8.45
WholeBlood8.7
Wholebrain6.4
colon7.85
pineal_day9.64
pineal_night9.54
retina9.725
small_intestine7.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P88801
  • 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
Amygdala6.69 ± 0.54
Basal Forebrain6.81 ± 0.14
Basal Part of Pons5.96 ± 0.53
Cerebellar Cortex5.89 ± 0.37
Cerebellar Nuclei6.03 ± 0.42
Claustrum6.49 ± 0.57
Epithalamus8.33 ± 0.87
Frontal Lobe6.29 ± 0.56
Globus Pallidus6.93 ± 0.25
Hypothalamus6.84 ± 0.34
Insula6.78 ± 0.43
Limbic Lobe6.6 ± 0.66
Mesencephalon6.71 ± 0.6
Myelencephalon6.61 ± 0.67
Occipital Lobe6.91 ± 0.58
Parietal Lobe6.48 ± 0.49
Pontine Tegmentum6.58 ± 0.48
Striatum7.54 ± 0.46
Subthalamus6.01 ± 0.3
Temporal Lobe6.66 ± 0.38
Thalamus6.32 ± 0.31
White Matter6.66 ± 0.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nphp1PPons0.64
0.57
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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