AutismKB 2.0

Annotation Detail for NPNT


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Basic Information Top
Gene Symbol:NPNT ( EGFL6L,POEM )
Gene Full Name: nephronectin
Band: 4q24
Quick LinksEntrez ID:255743; OMIM: 610306; Uniprot ID:NPNT_HUMAN; ENSEMBL ID: ENSG00000168743; HGNC ID: 27405
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 body12 / 70761169
blastocyst0 / 623190 
fetus32 / 56401256
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult83 / 193912142
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 tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor25 / 136302183
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal139 / 336030741
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
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 
ascites1 / 4001524
bladder2 / 2975767
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain9 / 11009898
cervix0 / 481710 
connective tissue5 / 14925533
ear11 / 16212678
embryonic tissue12 / 21572255
esophagus1 / 2020949
eye6 / 21105428
heart9 / 89626100
intestine7 / 23447229
kidney11 / 21177751
larynx0 / 241450 
liver1 / 2077434
lung19 / 33697456
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta7 / 28082524
prostate8 / 18934542
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach3 / 9661931
testis7 / 33044221
thymus1 / 8113112
thyroid26 / 47473547
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus12 / 23287851
vascular11 / 51780212
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P174978
  • 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
Amygdala3.98 ± 0.57
Basal Forebrain4.21 ± 0.66
Basal Part of Pons2.49 ± 0.39
Cerebellar Cortex2.66 ± 0.38
Cerebellar Nuclei2.93 ± 0.72
Claustrum3.58 ± 0.97
Epithalamus3.8 ± 0.58
Frontal Lobe3.38 ± 0.82
Globus Pallidus3.98 ± 1.1
Hypothalamus3.64 ± 0.69
Insula3.57 ± 0.9
Limbic Lobe3.49 ± 0.98
Mesencephalon4.34 ± 0.93
Myelencephalon3.46 ± 0.87
Occipital Lobe3.61 ± 1.39
Parietal Lobe3.25 ± 0.82
Pontine Tegmentum3.24 ± 0.73
Striatum4.21 ± 0.84
Subthalamus4.17 ± 0.72
Temporal Lobe3.21 ± 0.84
Thalamus3.15 ± 0.66
White Matter2.96 ± 0.53
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NpntCBCerebellum4.1
4.93
NpntCTXCerebral cortex15.02
13.95
NpntHIPHippocampal region13.18
19.92
NpntHPFHippocampal formation9.19
12.14
NpntHYHypothalamus2.03
1.49
NpntLSXLateral septal complex0.35
0.34
NpntMBMidbrain7.3
8.67
NpntMYMedulla1.79
1.74
NpntOLFOlfactory bulb2.41
1.99
NpntPPons2.75
3.49
NpntPALPallidum1.06
1.23
NpntRHPRetrohippocampal region3.68
3.23
NpntsAMYStriatum-like amygdalar nuclei0.94
0.8
NpntSTRStriatum0.77
0.84
NpntSTRdStriatum dorsal region0.9
1.05
NpntSTRvStriatum ventral region0.31
0.32
NpntTHThalamus1.14
1.21
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