AutismKB 2.0

Annotation Detail for NDFIP1


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Basic Information Top
Gene Symbol:NDFIP1 ( MGC10924,N4WBP5 )
Gene Full Name: Nedd4 family interacting protein 1
Band: 5q31.3
Quick LinksEntrez ID:80762; OMIM: 612050; Uniprot ID:NFIP1_HUMAN; ENSEMBL ID: ENSG00000131507; HGNC ID: 17592
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
blastocyst5 / 6231980
fetus101 / 564012179
neonate2 / 3109764
infant2 / 2362084
juvenile11 / 55556197
adult202 / 1939121104
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma13 / 82823156
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor17 / 119369142
germ cell tumor21 / 26384579
glioma18 / 106883168
head and neck tumor9 / 13630266
kidney tumor6 / 6895987
leukemia5 / 9584252
liver tumor9 / 9635993
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia14 / 97250143
normal620 / 3360307184
ovarian tumor8 / 76682104
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites9 / 40015224
bladder3 / 29757100
blood4 / 12347832
bone6 / 7165583
bone marrow5 / 48801102
brain472 / 1100989428
cervix1 / 4817120
connective tissue16 / 149255107
ear3 / 16212185
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye22 / 211054104
heart10 / 89626111
intestine21 / 23447289
kidney33 / 211777155
larynx1 / 2414541
liver14 / 20774367
lung67 / 336974198
lymph0 / 442700 
lymph node12 / 91610130
mammary gland3 / 15327119
mouth2 / 6705229
muscle5 / 10771546
nerve4 / 15768253
ovary11 / 102051107
pancreas44 / 214812204
parathyroid23 / 205391119
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta21 / 28082574
prostate23 / 189345121
salivary gland4 / 20155198
skin20 / 21057494
spleen3 / 5395255
stomach6 / 9661962
testis40 / 330442121
thymus5 / 8113161
thyroid6 / 47473126
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord1 / 1368073
uterus19 / 23287881
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217800_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts30.4
Adipocyte506.6
AdrenalCortex78.15
Adrenalgland303.65
Amygdala2951.8
Appendix44.8
AtrioventricularNode27.55
BDCA4+_DentriticCells191.7
Bonemarrow114.35
BronchialEpithelialCells205
CD105+_Endothelial337.2
CD14+_Monocytes307.9
CD19+_BCells(neg._sel.)113.9
CD33+_Myeloid296
CD34+189.85
CD4+_Tcells253
CD56+_NKCells203.4
CD71+_EarlyErythroid378
CD8+_Tcells425.15
CardiacMyocytes158.8
Caudatenucleus519.9
Cerebellum676.75
CerebellumPeduncles578.9
CiliaryGanglion92.05
CingulateCortex573.35
Colorectaladenocarcinoma267.15
DorsalRootGanglion206.8
FetalThyroid633.35
Fetalbrain1033.3
Fetalliver174.1
Fetallung276.85
GlobusPallidus557.35
Heart85.5
Hypothalamus987.6
Kidney259.7
Leukemia_chronicMyelogenousK-562119.5
Leukemia_promyelocytic-HL-6078.35
Leukemialymphoblastic(MOLT-4)166.1
Liver214.6
Lung274.45
Lymphnode199.85
Lymphoma_burkitts(Daudi)17.9
Lymphoma_burkitts(Raji)41.1
MedullaOblongata561.95
OccipitalLobe1271.85
OlfactoryBulb217.75
Ovary89.2
Pancreas94.9
PancreaticIslet431.55
ParietalLobe810.4
Pituitary1111.5
Placenta574.9
Pons289
PrefrontalCortex1441.9
Prostate755.4
Salivarygland353.8
SkeletalMuscle33.2
Skin54.1
SmoothMuscle178
Spinalcord454.4
SubthalamicNucleus641.15
SuperiorCervicalGanglion36.75
TemporalLobe488.8
Testis240
TestisGermCell556.85
TestisIntersitial187.9
TestisLeydigCell156.3
TestisSeminiferousTubule130.6
Thalamus1200.05
Thymus192.05
Thyroid1977.55
Tongue29.15
Tonsil72.9
Trachea503.9
TrigeminalGanglion37.2
Uterus216.8
UterusCorpus25.3
WholeBlood412.9
Wholebrain1497.35
colon666.1
pineal_day2820.56
pineal_night2925.48
retina1689.225
small_intestine758.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P209113
  • 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
Amygdala8.6 ± 0.26
Basal Forebrain8.2 ± 0.18
Basal Part of Pons8.57 ± 0.28
Cerebellar Cortex8.31 ± 0.17
Cerebellar Nuclei8.06 ± 0.3
Claustrum8.57 ± 0.31
Epithalamus8.1 ± 0.43
Frontal Lobe8.48 ± 0.28
Globus Pallidus7.7 ± 0.36
Hypothalamus8.48 ± 0.24
Insula8.49 ± 0.18
Limbic Lobe8.59 ± 0.3
Mesencephalon8.27 ± 0.4
Myelencephalon8.38 ± 0.33
Occipital Lobe8.46 ± 0.25
Parietal Lobe8.42 ± 0.37
Pontine Tegmentum8.41 ± 0.3
Striatum8.05 ± 0.39
Subthalamus8.27 ± 0.39
Temporal Lobe8.5 ± 0.26
Thalamus8.43 ± 0.28
White Matter7.45 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ndfip1CBCerebellum0
0
Ndfip1CTXCerebral cortex0
0
Ndfip1HIPHippocampal region0
0
Ndfip1HPFHippocampal formation0
0
Ndfip1HYHypothalamus0
0
Ndfip1LSXLateral septal complex0
0
Ndfip1MBMidbrain0
0
Ndfip1MYMedulla0
0
Ndfip1OLFOlfactory bulb0
0
Ndfip1PPons0
0
Ndfip1PALPallidum0
0
Ndfip1RHPRetrohippocampal region0
0
Ndfip1sAMYStriatum-like amygdalar nuclei0
0
Ndfip1STRStriatum0
0
Ndfip1STRdStriatum dorsal region0
0
Ndfip1STRvStriatum ventral region0
0
Ndfip1THThalamus0
0
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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