AutismKB 2.0

Annotation Detail for NEFM


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Basic Information Top
Gene Symbol:NEFM ( NEF3,NF-M,NFM )
Gene Full Name: neurofilament, medium polypeptide
Band: 8p21.2
Quick LinksEntrez ID:4741; OMIM: 162250; Uniprot ID:NFM_HUMAN; ENSEMBL ID: ENSG00000104722; HGNC ID: 7734
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 body0 / 707610 
blastocyst1 / 6231916
fetus149 / 564012264
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult52 / 193912126
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 tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor48 / 263845181
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor15 / 68959217
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal301 / 336030789
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma4 / 4635686
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 marrow0 / 488010 
brain187 / 1100989169
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine0 / 2344720 
kidney138 / 211777651
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve4 / 15768253
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis19 / 33044257
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205113_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.5
Adipocyte7.3
AdrenalCortex10.15
Adrenalgland6.8
Amygdala1004.5
Appendix9.75
AtrioventricularNode12
BDCA4+_DentriticCells7.25
Bonemarrow8.05
BronchialEpithelialCells7.2
CD105+_Endothelial7.75
CD14+_Monocytes8
CD19+_BCells(neg._sel.)7.75
CD33+_Myeloid8.95
CD34+9.2
CD4+_Tcells7.15
CD56+_NKCells8.15
CD71+_EarlyErythroid6.95
CD8+_Tcells6.15
CardiacMyocytes10.75
Caudatenucleus232.65
Cerebellum77.25
CerebellumPeduncles117.45
CiliaryGanglion1002.85
CingulateCortex827.95
Colorectaladenocarcinoma7.4
DorsalRootGanglion1772.45
FetalThyroid7.75
Fetalbrain369.75
Fetalliver6.55
Fetallung5.7
GlobusPallidus419.4
Heart11.5
Hypothalamus1932.4
Kidney6.7
Leukemia_chronicMyelogenousK-5626.4
Leukemia_promyelocytic-HL-606.45
Leukemialymphoblastic(MOLT-4)5.9
Liver11.2
Lung8.2
Lymphnode6.25
Lymphoma_burkitts(Daudi)9.3
Lymphoma_burkitts(Raji)11.4
MedullaOblongata575.05
OccipitalLobe577.55
OlfactoryBulb5.95
Ovary5
Pancreas6.15
PancreaticIslet11.9
ParietalLobe811.25
Pituitary33.15
Placenta7.2
Pons364.5
PrefrontalCortex1221.9
Prostate8.7
Salivarygland6.35
SkeletalMuscle10.45
Skin6.75
SmoothMuscle8.35
Spinalcord1350.95
SubthalamicNucleus727.8
SuperiorCervicalGanglion119.05
TemporalLobe364.8
Testis12.2
TestisGermCell16.75
TestisIntersitial25.5
TestisLeydigCell8.9
TestisSeminiferousTubule16.35
Thalamus4412.1
Thymus5.8
Thyroid8.8
Tongue8
Tonsil7.5
Trachea6.15
TrigeminalGanglion571.15
Uterus6.35
UterusCorpus7.25
WholeBlood7.9
Wholebrain738.45
colon7.15
pineal_day1525.02
pineal_night1520.14
retina58.425
small_intestine7.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13404_PI416261804
  • 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
Amygdala10.13 ± 0.63
Basal Forebrain10.15 ± 0.25
Basal Part of Pons11.81 ± 0.3
Cerebellar Cortex10.25 ± 0.42
Cerebellar Nuclei12.54 ± 0.38
Claustrum10.29 ± 0.63
Epithalamus9.21 ± 1.59
Frontal Lobe11.49 ± 0.96
Globus Pallidus10.97 ± 1.18
Hypothalamus10.35 ± 0.61
Insula10.52 ± 0.51
Limbic Lobe10.79 ± 0.88
Mesencephalon10.82 ± 0.98
Myelencephalon10.89 ± 1.07
Occipital Lobe10.62 ± 1.03
Parietal Lobe11.37 ± 0.76
Pontine Tegmentum11.13 ± 1.06
Striatum10.08 ± 0.91
Subthalamus12.38 ± 0.27
Temporal Lobe10.86 ± 0.61
Thalamus11.41 ± 0.86
White Matter7.54 ± 1.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nef3CBCerebellum52.08
100
Nef3CTXCerebral cortex100
100
Nef3HIPHippocampal region96.39
100
Nef3HPFHippocampal formation95.24
100
Nef3HYHypothalamus70.79
100
Nef3LSXLateral septal complex64.98
82.46
Nef3MBMidbrain97.03
100
Nef3MYMedulla95.37
100
Nef3OLFOlfactory bulb89.39
100
Nef3PPons99.04
100
Nef3PALPallidum83.3
100
Nef3RHPRetrohippocampal region88.41
100
Nef3sAMYStriatum-like amygdalar nuclei72.43
99.9
Nef3STRStriatum100
100
Nef3STRdStriatum dorsal region100
100
Nef3STRvStriatum ventral region100
100
Nef3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00351891 16 169 184 AQVQLDSDHLEEDIHR 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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