AutismKB 2.0

Annotation Detail for NFASC


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NFASC ( DKFZp686P2250,FLJ46866,KIAA0756,NF,NRCAML )
Gene Full Name: neurofascin
Band: 1q32.1
Quick LinksEntrez ID:23114; OMIM: 609145; Uniprot ID:NFASC_HUMAN; ENSEMBL ID: ENSG00000163531; HGNC ID: 29866
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 body1 / 7076114
blastocyst1 / 6231916
fetus31 / 56401254
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult100 / 193912151
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 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma17 / 106883159
head and neck tumor2 / 13630214
kidney tumor10 / 68959145
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal230 / 336030768
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain158 / 1100989143
cervix0 / 481710 
connective tissue4 / 14925526
ear2 / 16212123
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye18 / 21105485
heart1 / 8962611
intestine8 / 23447234
kidney13 / 21177761
larynx0 / 241450 
liver0 / 2077430 
lung16 / 33697447
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle6 / 10771555
nerve3 / 15768190
ovary2 / 10205119
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate3 / 18934515
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach3 / 9661931
testis13 / 33044239
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213438_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte5.55
AdrenalCortex7.85
Adrenalgland9.25
Amygdala232.9
Appendix6.15
AtrioventricularNode6.2
BDCA4+_DentriticCells4.9
Bonemarrow5.65
BronchialEpithelialCells5.2
CD105+_Endothelial5.35
CD14+_Monocytes5.25
CD19+_BCells(neg._sel.)5.7
CD33+_Myeloid6.1
CD34+6.25
CD4+_Tcells5
CD56+_NKCells5.85
CD71+_EarlyErythroid4.85
CD8+_Tcells4.65
CardiacMyocytes7.25
Caudatenucleus94.75
Cerebellum41.85
CerebellumPeduncles51.3
CiliaryGanglion4.75
CingulateCortex92.35
Colorectaladenocarcinoma4.7
DorsalRootGanglion30.5
FetalThyroid5.65
Fetalbrain73.8
Fetalliver4.35
Fetallung4.4
GlobusPallidus72.05
Heart7.4
Hypothalamus353.2
Kidney6.25
Leukemia_chronicMyelogenousK-5625.7
Leukemia_promyelocytic-HL-604.3
Leukemialymphoblastic(MOLT-4)4.1
Liver7.7
Lung6.95
Lymphnode6.05
Lymphoma_burkitts(Daudi)6.95
Lymphoma_burkitts(Raji)7.8
MedullaOblongata85.7
OccipitalLobe100.6
OlfactoryBulb201.6
Ovary3.9
Pancreas4.35
PancreaticIslet23.8
ParietalLobe119.6
Pituitary25.2
Placenta5.9
Pons56.95
PrefrontalCortex396.9
Prostate6.65
Salivarygland4.5
SkeletalMuscle7.05
Skin4.65
SmoothMuscle5.55
Spinalcord231.8
SubthalamicNucleus91.95
SuperiorCervicalGanglion7.6
TemporalLobe28.05
Testis4.65
TestisGermCell4.6
TestisIntersitial4.6
TestisLeydigCell5.5
TestisSeminiferousTubule5
Thalamus194.1
Thymus3.8
Thyroid5.95
Tongue5.95
Tonsil5.55
Trachea4.8
TrigeminalGanglion6.2
Uterus21.55
UterusCorpus5.4
WholeBlood5.25
Wholebrain102.9
colon6.8
pineal_day104.04
pineal_night78.82
retina124.4
small_intestine17.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P350656
  • 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
Amygdala5.11 ± 0.35
Basal Forebrain5.03 ± 0.22
Basal Part of Pons5.26 ± 0.3
Cerebellar Cortex5.13 ± 0.25
Cerebellar Nuclei5.76 ± 0.29
Claustrum5.04 ± 0.43
Epithalamus5.73 ± 0.25
Frontal Lobe5.52 ± 0.38
Globus Pallidus6.19 ± 0.21
Hypothalamus5.31 ± 0.51
Insula5.35 ± 0.34
Limbic Lobe5.32 ± 0.33
Mesencephalon5.35 ± 0.46
Myelencephalon5.41 ± 0.38
Occipital Lobe5.29 ± 0.38
Parietal Lobe5.39 ± 0.36
Pontine Tegmentum5.43 ± 0.41
Striatum5.48 ± 0.43
Subthalamus5.6 ± 0.2
Temporal Lobe5.35 ± 0.38
Thalamus5.77 ± 0.34
White Matter6.6 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NfascCBCerebellum86.07
100
NfascCTXCerebral cortex100
100
NfascHIPHippocampal region100
100
NfascHPFHippocampal formation100
100
NfascHYHypothalamus100
100
NfascLSXLateral septal complex100
100
NfascMBMidbrain100
100
NfascMYMedulla100
100
NfascOLFOlfactory bulb100
100
NfascPPons100
100
NfascPALPallidum100
100
NfascRHPRetrohippocampal region100
100
NfascsAMYStriatum-like amygdalar nuclei100
100
NfascSTRStriatum100
100
NfascSTRdStriatum dorsal region100
100
NfascSTRvStriatum ventral region100
100
NfascTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NFASC_HUMAN_243 18 243 260 TPSFMYPQGTASSQMVLR PRIDE
PAp00071359 17 504 520 KEDQGIYTCVATNILGK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved