AutismKB 2.0

Annotation Detail for NEDD4L


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Basic Information Top
Gene Symbol:NEDD4L ( FLJ33870,KIAA0439,NEDD4-2,RSP5,hNedd4-2 )
Gene Full Name: neural precursor cell expressed, developmentally down-regulated 4-like
Band: 18q21.31
Quick LinksEntrez ID:23327; OMIM: 606384; Uniprot ID:NED4L_HUMAN; ENSEMBL ID: ENSG00000049759; HGNC ID: 7728
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 body3 / 7076142
blastocyst5 / 6231980
fetus102 / 564012180
neonate1 / 3109732
infant0 / 236200 
juvenile5 / 5555689
adult163 / 193912184
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor11 / 11424696
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor14 / 26384553
glioma9 / 10688384
head and neck tumor14 / 136302102
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor25 / 96359259
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal335 / 336030799
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer17 / 102680165
retinoblastoma1 / 4635621
skin tumor30 / 124949240
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites1 / 4001524
bladder2 / 2975767
blood4 / 12347832
bone3 / 7165541
bone marrow1 / 4880120
brain106 / 110098996
cervix1 / 4817120
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus1 / 2020949
eye25 / 211054118
heart9 / 89626100
intestine18 / 23447276
kidney26 / 211777122
larynx3 / 24145124
liver32 / 207743154
lung30 / 33697489
lymph0 / 442700 
lymph node3 / 9161032
mammary gland13 / 15327184
mouth8 / 67052119
muscle7 / 10771564
nerve0 / 157680 
ovary2 / 10205119
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta17 / 28082560
prostate42 / 189345221
salivary gland3 / 20155148
skin37 / 210574175
spleen1 / 5395218
stomach2 / 9661920
testis9 / 33044227
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord1 / 1368073
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212445_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts47.6
Adipocyte4.55
AdrenalCortex4.75
Adrenalgland3.95
Amygdala5.25
Appendix4.6
AtrioventricularNode3.5
BDCA4+_DentriticCells4.95
Bonemarrow4.5
BronchialEpithelialCells5
CD105+_Endothelial4.7
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)4.95
CD33+_Myeloid5.7
CD34+5.95
CD4+_Tcells4.9
CD56+_NKCells5.3
CD71+_EarlyErythroid11.9
CD8+_Tcells4.3
CardiacMyocytes5.75
Caudatenucleus4.2
Cerebellum3.75
CerebellumPeduncles5.45
CiliaryGanglion3.2
CingulateCortex4.75
Colorectaladenocarcinoma4.65
DorsalRootGanglion3.5
FetalThyroid4.5
Fetalbrain5.55
Fetalliver4.45
Fetallung30.2
GlobusPallidus3.4
Heart5.85
Hypothalamus5.1
Kidney5.2
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.4
Leukemialymphoblastic(MOLT-4)3.75
Liver6.1
Lung12.3
Lymphnode3.85
Lymphoma_burkitts(Daudi)5.9
Lymphoma_burkitts(Raji)6.4
MedullaOblongata4.5
OccipitalLobe4.25
OlfactoryBulb3.6
Ovary3.05
Pancreas3.75
PancreaticIslet5.25
ParietalLobe4.95
Pituitary5.45
Placenta5
Pons4.45
PrefrontalCortex5.7
Prostate129.6
Salivarygland3.8
SkeletalMuscle5.3
Skin3.55
SmoothMuscle5.3
Spinalcord4.95
SubthalamicNucleus4.3
SuperiorCervicalGanglion5.15
TemporalLobe4.2
Testis4.05
TestisGermCell3.85
TestisIntersitial3.9
TestisLeydigCell4.55
TestisSeminiferousTubule3.9
Thalamus4.7
Thymus3.6
Thyroid5.8
Tongue4.5
Tonsil4.5
Trachea4
TrigeminalGanglion4.55
Uterus3.8
UterusCorpus4.15
WholeBlood5.05
Wholebrain4.25
colon6.2
pineal_day8.68
pineal_night20.06
retina6.2
small_intestine4.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P27279
  • 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
Amygdala6.5 ± 0.49
Basal Forebrain6.36 ± 0.4
Basal Part of Pons6.48 ± 0.49
Cerebellar Cortex6.55 ± 0.19
Cerebellar Nuclei6.1 ± 0.41
Claustrum6.67 ± 0.45
Epithalamus6.28 ± 0.48
Frontal Lobe6.66 ± 0.4
Globus Pallidus5.13 ± 0.69
Hypothalamus6.27 ± 0.56
Insula6.75 ± 0.23
Limbic Lobe6.8 ± 0.57
Mesencephalon6.44 ± 0.59
Myelencephalon6.51 ± 0.42
Occipital Lobe6.19 ± 0.58
Parietal Lobe6.49 ± 0.42
Pontine Tegmentum6.48 ± 0.52
Striatum6.72 ± 0.32
Subthalamus6.71 ± 0.33
Temporal Lobe6.76 ± 0.4
Thalamus6.31 ± 0.41
White Matter4.59 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nedd4lCBCerebellum45.62
53.7
Nedd4lCTXCerebral cortex100
100
Nedd4lHIPHippocampal region100
100
Nedd4lHPFHippocampal formation100
100
Nedd4lHYHypothalamus14.1
12.15
Nedd4lLSXLateral septal complex46.48
42.46
Nedd4lMBMidbrain17.26
17.43
Nedd4lMYMedulla8.3
9.43
Nedd4lOLFOlfactory bulb86.98
93.6
Nedd4lPPons12.24
12.59
Nedd4lPALPallidum26.17
28.61
Nedd4lRHPRetrohippocampal region94.24
93.52
Nedd4lsAMYStriatum-like amygdalar nuclei69.14
61.85
Nedd4lSTRStriatum100
100
Nedd4lSTRdStriatum dorsal region100
100
Nedd4lSTRvStriatum ventral region100
100
Nedd4lTHThalamus56.53
52.65
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NED4L_HUMAN_2 19 2 20 ATGLGEPVYGLSEDEGESR PRIDE
PAp00028982 7 959 965 AHTCFNR Peptide Atlas

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