AutismKB 2.0

Annotation Detail for NSFL1C


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Basic Information Top
Gene Symbol:NSFL1C ( MGC3347,UBX1,UBXD10,UBXN2C,dJ776F14.1,p47 )
Gene Full Name: NSFL1 (p97) cofactor (p47)
Band: 20p13
Quick LinksEntrez ID:55968; OMIM: 606610; Uniprot ID:NSF1C_HUMAN; ENSEMBL ID: ENSG00000088833; HGNC ID: 15912
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 body9 / 70761127
blastocyst3 / 6231948
fetus69 / 564012122
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult243 / 1939121125
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor27 / 94178286
cervical tumor4 / 34366116
chondrosarcoma9 / 82823108
colorectal tumor9 / 11424678
esophageal tumor2 / 17290115
gastrointestinal tumor7 / 11936958
germ cell tumor23 / 26384587
glioma18 / 106883168
head and neck tumor44 / 136302322
kidney tumor5 / 6895972
leukemia7 / 9584273
liver tumor7 / 9635972
lung tumor22 / 103127213
lymphoma4 / 7175555
non-neoplasia3 / 9725030
normal310 / 336030792
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer4 / 10268038
retinoblastoma5 / 46356107
skin tumor14 / 124949112
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland4 / 33197120
ascites3 / 4001574
bladder2 / 2975767
blood7 / 12347856
bone8 / 71655111
bone marrow3 / 4880161
brain93 / 110098984
cervix4 / 4817183
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus2 / 2020998
eye31 / 211054146
heart10 / 89626111
intestine18 / 23447276
kidney10 / 21177747
larynx31 / 241451283
liver12 / 20774357
lung52 / 336974154
lymph2 / 4427045
lymph node12 / 91610130
mammary gland37 / 153271241
mouth5 / 6705274
muscle2 / 10771518
nerve1 / 1576863
ovary4 / 10205139
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland2 / 16585120
placenta43 / 280825153
prostate12 / 18934563
salivary gland1 / 2015549
skin26 / 210574123
spleen3 / 5395255
stomach6 / 9661962
testis18 / 33044254
thymus3 / 8113136
thyroid3 / 4747363
tonsil3 / 16999176
trachea5 / 5241395
umbilical cord0 / 136800 
uterus16 / 23287868
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217831_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts41.4
Adipocyte23.75
AdrenalCortex28
Adrenalgland21.5
Amygdala24.5
Appendix23.8
AtrioventricularNode17.75
BDCA4+_DentriticCells31.2
Bonemarrow23.5
BronchialEpithelialCells23.6
CD105+_Endothelial32.25
CD14+_Monocytes29.3
CD19+_BCells(neg._sel.)40.25
CD33+_Myeloid33.95
CD34+30
CD4+_Tcells23.9
CD56+_NKCells28.1
CD71+_EarlyErythroid22.7
CD8+_Tcells20.2
CardiacMyocytes32.1
Caudatenucleus21.15
Cerebellum19.4
CerebellumPeduncles35.8
CiliaryGanglion16.85
CingulateCortex24.85
Colorectaladenocarcinoma34.25
DorsalRootGanglion17.9
FetalThyroid22.9
Fetalbrain23.85
Fetalliver20.7
Fetallung19.15
GlobusPallidus17.9
Heart52.55
Hypothalamus25.85
Kidney20.2
Leukemia_chronicMyelogenousK-56221.3
Leukemia_promyelocytic-HL-6020.8
Leukemialymphoblastic(MOLT-4)18.65
Liver36.4
Lung32.75
Lymphnode13.35
Lymphoma_burkitts(Daudi)30.35
Lymphoma_burkitts(Raji)34.05
MedullaOblongata21.9
OccipitalLobe21.2
OlfactoryBulb18.85
Ovary15.65
Pancreas17.35
PancreaticIslet25.3
ParietalLobe25.9
Pituitary27.9
Placenta25.8
Pons21.8
PrefrontalCortex54.8
Prostate22.4
Salivarygland17.85
SkeletalMuscle27.5
Skin12.95
SmoothMuscle28.2
Spinalcord22.9
SubthalamicNucleus21.7
SuperiorCervicalGanglion26.5
TemporalLobe22.2
Testis19.4
TestisGermCell19.1
TestisIntersitial20.15
TestisLeydigCell23
TestisSeminiferousTubule20.4
Thalamus24.55
Thymus18.8
Thyroid29.35
Tongue22.8
Tonsil23.35
Trachea17.2
TrigeminalGanglion24.25
Uterus19.25
UterusCorpus20.9
WholeBlood45.9
Wholebrain55
colon29.65
pineal_day51.1
pineal_night72.82
retina41.7
small_intestine31.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P134340
  • 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
Amygdala6.84 ± 0.47
Basal Forebrain6.21 ± 0.31
Basal Part of Pons6.97 ± 0.3
Cerebellar Cortex6.48 ± 0.58
Cerebellar Nuclei6.68 ± 0.36
Claustrum6.97 ± 0.5
Epithalamus6.12 ± 0.48
Frontal Lobe6.59 ± 0.42
Globus Pallidus6.56 ± 0.3
Hypothalamus6.23 ± 0.25
Insula6.54 ± 0.29
Limbic Lobe6.67 ± 0.33
Mesencephalon6.49 ± 0.44
Myelencephalon6.52 ± 0.45
Occipital Lobe6.59 ± 0.27
Parietal Lobe6.5 ± 0.32
Pontine Tegmentum6.59 ± 0.41
Striatum6.42 ± 0.36
Subthalamus6.76 ± 0.14
Temporal Lobe6.56 ± 0.4
Thalamus6.57 ± 0.33
White Matter6.63 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nsfl1cCBCerebellum41.87
65.65
Nsfl1cCTXCerebral cortex100
100
Nsfl1cHIPHippocampal region77.55
100
Nsfl1cHPFHippocampal formation94.21
100
Nsfl1cHYHypothalamus97.3
100
Nsfl1cLSXLateral septal complex100
100
Nsfl1cMBMidbrain89.04
98.62
Nsfl1cMYMedulla79.14
100
Nsfl1cOLFOlfactory bulb100
100
Nsfl1cPPons74.73
100
Nsfl1cPALPallidum88.48
100
Nsfl1cRHPRetrohippocampal region100
100
Nsfl1csAMYStriatum-like amygdalar nuclei100
98.62
Nsfl1cSTRStriatum80.82
69.26
Nsfl1cSTRdStriatum dorsal region71.23
60.43
Nsfl1cSTRvStriatum ventral region92.68
75.42
Nsfl1cTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NSF1C_HUMAN_156 17 156 172 LGAAPEEESAYVAGEKR PRIDE
NSF1C_HUMAN_157 17 157 173 LGAAPEEESAYVAGEKR PRIDE
NSF1C_HUMAN_199 15 199 213 SYQDPSNAQFLESIR PRIDE
NSF1C_HUMAN_223 24 223 246 RLAHGGQVNLDMEDHRDEDFVKPK PRIDE
NSF1C_HUMAN_225 15 225 239 LAHGGQVNLDMEDHR PRIDE
NSF1C_HUMAN_356 12 356 367 EANLLNAVIVQR PRIDE
NSF1C_HUMAN_76 17 76 92 DLIHDQDEDEEEEEGQR PRIDE
NSF1C_HUMAN_78 16 78 93 LIHDQDEDEEEEEGQR PRIDE
PAp00035688 17 46 62 LGAAPEEESAYVAGEKR 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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