AutismKB 2.0

Annotation Detail for NPHP4


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Basic Information Top
Gene Symbol:NPHP4 ( FLJ46306,KIAA0673,POC10,SLSN4 )
Gene Full Name: nephronophthisis 4
Band: 1p36.31
Quick LinksEntrez ID:261734; OMIM: 607215; Uniprot ID:NPHP4_HUMAN; ENSEMBL ID: ENSG00000131697; HGNC ID: 19104
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult24 / 193912112
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor13 / 119369108
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal51 / 336030715
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites13 / 40015324
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain30 / 110098927
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth1 / 6705214
muscle8 / 10771574
nerve1 / 1576863
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach0 / 966190 
testis17 / 33044251
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213471_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.4
Adipocyte5.5
AdrenalCortex5.75
Adrenalgland4.75
Amygdala6.05
Appendix5.65
AtrioventricularNode4.65
BDCA4+_DentriticCells6.55
Bonemarrow6
BronchialEpithelialCells5.5
CD105+_Endothelial5.75
CD14+_Monocytes7
CD19+_BCells(neg._sel.)5.95
CD33+_Myeloid7.85
CD34+26.7
CD4+_Tcells10.15
CD56+_NKCells6.85
CD71+_EarlyErythroid7.25
CD8+_Tcells5.65
CardiacMyocytes7.3
Caudatenucleus5.2
Cerebellum4.55
CerebellumPeduncles6.4
CiliaryGanglion4.25
CingulateCortex5.75
Colorectaladenocarcinoma5.75
DorsalRootGanglion4.35
FetalThyroid5.5
Fetalbrain5.75
Fetalliver4.75
Fetallung4.8
GlobusPallidus4.2
Heart7.2
Hypothalamus6.55
Kidney4.5
Leukemia_chronicMyelogenousK-5625.65
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)5.95
Liver7.35
Lung6.25
Lymphnode4.85
Lymphoma_burkitts(Daudi)7.45
Lymphoma_burkitts(Raji)8.4
MedullaOblongata5.2
OccipitalLobe5.1
OlfactoryBulb4.45
Ovary3.7
Pancreas4.6
PancreaticIslet6.1
ParietalLobe5.9
Pituitary6.65
Placenta5.45
Pons5.35
PrefrontalCortex7.15
Prostate6.7
Salivarygland4.5
SkeletalMuscle6.6
Skin4.4
SmoothMuscle6.45
Spinalcord6.1
SubthalamicNucleus5.3
SuperiorCervicalGanglion6.45
TemporalLobe5.2
Testis4.95
TestisGermCell4.8
TestisIntersitial5.35
TestisLeydigCell5.75
TestisSeminiferousTubule4.9
Thalamus5.75
Thymus4.45
Thyroid7.25
Tongue6
Tonsil5.5
Trachea4.75
TrigeminalGanglion5.5
Uterus4.7
UterusCorpus5
WholeBlood6.1
Wholebrain4.9
colon5.55
pineal_day7.22
pineal_night8.1
retina6.95
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14942_PI416261804
  • 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
Amygdala2.66 ± 0.87
Basal Forebrain1.94 ± 0.53
Basal Part of Pons2.13 ± 0.47
Cerebellar Cortex2.12 ± 0.78
Cerebellar Nuclei2.29 ± 0.6
Claustrum2.73 ± 0.77
Epithalamus2.27 ± 0.64
Frontal Lobe2.15 ± 0.71
Globus Pallidus2.41 ± 0.57
Hypothalamus2.27 ± 0.77
Insula2.04 ± 1.14
Limbic Lobe2.49 ± 0.72
Mesencephalon2.41 ± 0.73
Myelencephalon2.23 ± 0.66
Occipital Lobe2.65 ± 0.79
Parietal Lobe2.42 ± 0.72
Pontine Tegmentum2.43 ± 0.81
Striatum2.64 ± 0.74
Subthalamus2.27 ± 0.76
Temporal Lobe2.22 ± 0.74
Thalamus2.14 ± 0.68
White Matter2.15 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nphp4CBCerebellum2.6
2.69
Nphp4CTXCerebral cortex13.34
8.1
Nphp4HIPHippocampal region13.29
11.38
Nphp4HPFHippocampal formation13.1
9.98
Nphp4HYHypothalamus0.76
0.56
Nphp4LSXLateral septal complex1.25
0.76
Nphp4MBMidbrain1.4
1.18
Nphp4MYMedulla8.75
8.57
Nphp4OLFOlfactory bulb12.28
7.57
Nphp4PPons4.48
4.57
Nphp4PALPallidum1.98
1.42
Nphp4RHPRetrohippocampal region13.32
8.36
Nphp4sAMYStriatum-like amygdalar nuclei4.73
2.67
Nphp4STRStriatum4.49
2.71
Nphp4STRdStriatum dorsal region5.05
3.15
Nphp4STRvStriatum ventral region4.3
2.33
Nphp4THThalamus5.13
3.58
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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