AutismKB 2.0

Annotation Detail for NEFL


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Basic Information Top
Gene Symbol:NEFL ( CMT1F,CMT2E,FLJ53642,NF-L,NF68,NFL )
Gene Full Name: neurofilament, light polypeptide
Band: 8p21.2
Quick LinksEntrez ID:4747; OMIM: 162280; Uniprot ID:NFL_HUMAN; ENSEMBL ID: ENSG00000104725; HGNC ID: 7739
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 body5 / 7076170
blastocyst0 / 623190 
fetus124 / 564012219
neonate0 / 310970 
infant0 / 236200 
juvenile23 / 55556413
adult255 / 1939121131
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor185 / 263845701
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor76 / 689591102
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia16 / 97250164
normal928 / 3360307276
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain851 / 1100989772
cervix0 / 481710 
connective tissue4 / 14925526
ear20 / 162121233
embryonic tissue25 / 215722115
esophagus1 / 2020949
eye41 / 211054194
heart0 / 896260 
intestine0 / 2344720 
kidney98 / 211777462
larynx0 / 241450 
liver1 / 2077434
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve20 / 157681268
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate8 / 18934542
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis93 / 330442281
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221805_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.05
Adipocyte6.3
AdrenalCortex7.9
Adrenalgland6.15
Amygdala5141.9
Appendix7.5
AtrioventricularNode8.4
BDCA4+_DentriticCells6.3
Bonemarrow6.9
BronchialEpithelialCells5.85
CD105+_Endothelial6.5
CD14+_Monocytes6.65
CD19+_BCells(neg._sel.)6.45
CD33+_Myeloid7.5
CD34+7.45
CD4+_Tcells6.3
CD56+_NKCells6.95
CD71+_EarlyErythroid6.35
CD8+_Tcells5.55
CardiacMyocytes9.15
Caudatenucleus746.5
Cerebellum264.55
CerebellumPeduncles138.65
CiliaryGanglion1359.75
CingulateCortex2335.65
Colorectaladenocarcinoma6.05
DorsalRootGanglion4735.05
FetalThyroid6.25
Fetalbrain896.75
Fetalliver5.85
Fetallung4.85
GlobusPallidus1566.4
Heart10
Hypothalamus3588.45
Kidney7.15
Leukemia_chronicMyelogenousK-5625.65
Leukemia_promyelocytic-HL-605.45
Leukemialymphoblastic(MOLT-4)4.7
Liver9.65
Lung6.8
Lymphnode5.05
Lymphoma_burkitts(Daudi)8.3
Lymphoma_burkitts(Raji)9.35
MedullaOblongata1479.85
OccipitalLobe2739.75
OlfactoryBulb4.8
Ovary4.45
Pancreas5.45
PancreaticIslet6.6
ParietalLobe2134.9
Pituitary14.15
Placenta6.05
Pons1109.6
PrefrontalCortex2013.2
Prostate7.6
Salivarygland5.2
SkeletalMuscle9.65
Skin5.75
SmoothMuscle6.85
Spinalcord4646.6
SubthalamicNucleus2085
SuperiorCervicalGanglion349.95
TemporalLobe1487.75
Testis5.5
TestisGermCell6.2
TestisIntersitial5.3
TestisLeydigCell6.65
TestisSeminiferousTubule5.5
Thalamus5542.05
Thymus11.6
Thyroid7.45
Tongue8.05
Tonsil6.35
Trachea5.25
TrigeminalGanglion2499.35
Uterus5.05
UterusCorpus6.4
WholeBlood6.75
Wholebrain4516.75
colon6.45
pineal_day3357.84
pineal_night5190.98
retina371.3
small_intestine6.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P71492
  • 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
Amygdala10.61 ± 0.65
Basal Forebrain10.44 ± 0.27
Basal Part of Pons12.05 ± 0.33
Cerebellar Cortex10.5 ± 0.45
Cerebellar Nuclei12.5 ± 0.3
Claustrum10.86 ± 0.41
Epithalamus9.67 ± 1.46
Frontal Lobe11.62 ± 0.77
Globus Pallidus11.3 ± 0.93
Hypothalamus10.95 ± 0.47
Insula11.09 ± 0.31
Limbic Lobe11.11 ± 0.75
Mesencephalon11.09 ± 0.85
Myelencephalon11.15 ± 0.96
Occipital Lobe11.01 ± 0.82
Parietal Lobe11.59 ± 0.63
Pontine Tegmentum11.36 ± 0.95
Striatum9.94 ± 1.19
Subthalamus12.43 ± 0.19
Temporal Lobe11.3 ± 0.45
Thalamus11.63 ± 0.72
White Matter8.2 ± 1.25
Mouse Brain ISH
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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