AutismKB 2.0

Annotation Detail for NSF


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Basic Information Top
Gene Symbol:NSF ( SKD2 )
Gene Full Name: N-ethylmaleimide-sensitive factor
Band: 17q21.31
Quick LinksEntrez ID:4905; OMIM: 601633; Uniprot ID:NSF_HUMAN; ENSEMBL ID: ENSG00000073969; HGNC ID: 8016
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 body2 / 7076128
blastocyst1 / 6231916
fetus52 / 56401292
neonate1 / 3109732
infant1 / 2362042
juvenile4 / 5555671
adult184 / 193912194
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor4 / 34366116
chondrosarcoma7 / 8282384
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor32 / 263845121
glioma3 / 10688328
head and neck tumor18 / 136302132
kidney tumor7 / 68959101
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor9 / 10312787
lymphoma2 / 7175527
non-neoplasia13 / 97250133
normal1002 / 3360307298
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor41 / 125191327
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites10 / 40015249
bladder2 / 2975767
blood7 / 12347856
bone3 / 7165541
bone marrow2 / 4880140
brain929 / 1100989843
cervix7 / 48171145
connective tissue48 / 149255321
ear3 / 16212185
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye18 / 21105485
heart13 / 89626145
intestine10 / 23447242
kidney16 / 21177775
larynx0 / 241450 
liver9 / 20774343
lung26 / 33697477
lymph1 / 4427022
lymph node7 / 9161076
mammary gland9 / 15327158
mouth20 / 67052298
muscle2 / 10771518
nerve1 / 1576863
ovary2 / 10205119
pancreas4 / 21481218
parathyroid3 / 20539146
pharynx3 / 4132872
pituitary gland4 / 16585241
placenta14 / 28082549
prostate3 / 18934515
salivary gland1 / 2015549
skin21 / 21057499
spleen2 / 5395237
stomach5 / 9661951
testis59 / 330442178
thymus5 / 8113161
thyroid0 / 474730 
tonsil0 / 169990 
trachea10 / 52413190
umbilical cord0 / 136800 
uterus16 / 23287868
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202395_at
Cell line Expression level Expression bar
721_B_lymphoblasts94.45
Adipocyte51.2
AdrenalCortex17.6
Adrenalgland24.3
Amygdala1637.5
Appendix15.3
AtrioventricularNode11.95
BDCA4+_DentriticCells111.4
Bonemarrow20.85
BronchialEpithelialCells29.55
CD105+_Endothelial44.1
CD14+_Monocytes133.3
CD19+_BCells(neg._sel.)65.05
CD33+_Myeloid123.2
CD34+66.15
CD4+_Tcells47.25
CD56+_NKCells60.35
CD71+_EarlyErythroid16.45
CD8+_Tcells53.95
CardiacMyocytes36.15
Caudatenucleus780.75
Cerebellum215.15
CerebellumPeduncles397.6
CiliaryGanglion24.6
CingulateCortex826.9
Colorectaladenocarcinoma27.85
DorsalRootGanglion39.45
FetalThyroid34
Fetalbrain162.45
Fetalliver14.15
Fetallung18.25
GlobusPallidus537.8
Heart12.85
Hypothalamus1406.2
Kidney16.85
Leukemia_chronicMyelogenousK-56225.85
Leukemia_promyelocytic-HL-6056.25
Leukemialymphoblastic(MOLT-4)40.45
Liver15.35
Lung23.65
Lymphnode40.95
Lymphoma_burkitts(Daudi)57.4
Lymphoma_burkitts(Raji)88.05
MedullaOblongata891.55
OccipitalLobe1164
OlfactoryBulb17.9
Ovary10.8
Pancreas36.7
PancreaticIslet124.85
ParietalLobe1113.5
Pituitary342.5
Placenta52.45
Pons524.95
PrefrontalCortex1520.3
Prostate58.95
Salivarygland24.95
SkeletalMuscle13.2
Skin15.8
SmoothMuscle81.45
Spinalcord206.1
SubthalamicNucleus692.1
SuperiorCervicalGanglion22.45
TemporalLobe685.35
Testis25.5
TestisGermCell51.55
TestisIntersitial25
TestisLeydigCell23.65
TestisSeminiferousTubule32.55
Thalamus945.1
Thymus35.3
Thyroid56.9
Tongue17.2
Tonsil46.1
Trachea41.65
TrigeminalGanglion17.65
Uterus19.55
UterusCorpus13.05
WholeBlood67.25
Wholebrain882.5
colon50.35
pineal_day1534.96
pineal_night1584.9
retina137.375
small_intestine45.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P221634
  • 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
Amygdala10.92 ± 0.28
Basal Forebrain10.38 ± 0.16
Basal Part of Pons11.45 ± 0.09
Cerebellar Cortex10.45 ± 0.23
Cerebellar Nuclei10.81 ± 0.42
Claustrum10.99 ± 0.19
Epithalamus9.83 ± 0.71
Frontal Lobe10.77 ± 0.49
Globus Pallidus9.75 ± 0.57
Hypothalamus10.7 ± 0.41
Insula10.73 ± 0.31
Limbic Lobe10.97 ± 0.41
Mesencephalon10.58 ± 0.5
Myelencephalon10.64 ± 0.54
Occipital Lobe10.61 ± 0.4
Parietal Lobe10.92 ± 0.41
Pontine Tegmentum10.6 ± 0.3
Striatum10.59 ± 0.51
Subthalamus11.1 ± 0.24
Temporal Lobe10.84 ± 0.3
Thalamus10.48 ± 0.3
White Matter9.01 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NsfCBCerebellum100
100
NsfCTXCerebral cortex100
100
NsfHIPHippocampal region100
100
NsfHPFHippocampal formation100
100
NsfHYHypothalamus100
100
NsfLSXLateral septal complex100
100
NsfMBMidbrain100
100
NsfMYMedulla100
100
NsfOLFOlfactory bulb100
100
NsfPPons100
100
NsfPALPallidum100
100
NsfRHPRetrohippocampal region100
100
NsfsAMYStriatum-like amygdalar nuclei100
100
NsfSTRStriatum100
100
NsfSTRdStriatum dorsal region100
100
NsfSTRvStriatum ventral region100
100
NsfTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NSF_HUMAN_357 35 357 391 IDGVEQLNNILVIGMTNRPDLIDEALLRPGRLEVK PRIDE
NSF_HUMAN_434 12 434 445 NFSGAELEGLVR PRIDE
NSF_HUMAN_617 14 617 630 FSNLVLQALLVLLK PRIDE
NSF_HUMAN_617 15 617 631 FSNLVLQALLVLLKK PRIDE
NSF_HUMAN_617 21 617 637 FSNLVLQALLVLLKKAPPQGR PRIDE
PAp00001584 11 28 38 DFQSGQHVIVR 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


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