AutismKB 2.0

Annotation Detail for NEFH


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Basic Information Top
Gene Symbol:NEFH ( NFH )
Gene Full Name: neurofilament, heavy polypeptide
Band: 22q12.2
Quick LinksEntrez ID:4744; OMIM: 162230; Uniprot ID:NFH_HUMAN; ENSEMBL ID: ENSG00000100285; HGNC ID: 7737
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
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile8 / 55556143
adult49 / 193912125
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor5 / 6895972
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal158 / 336030747
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma9 / 46356194
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain109 / 110098999
cervix0 / 481710 
connective tissue2 / 14925513
ear2 / 16212123
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye18 / 21105485
heart1 / 8962611
intestine0 / 2344720 
kidney8 / 21177737
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle1 / 1077159
nerve10 / 15768634
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate28 / 189345147
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204412_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts37.05
Adipocyte11.35
AdrenalCortex25.7
Adrenalgland23.7
Amygdala64.1
Appendix12.3
AtrioventricularNode18.1
BDCA4+_DentriticCells11.95
Bonemarrow12.15
BronchialEpithelialCells11.4
CD105+_Endothelial11.55
CD14+_Monocytes12.6
CD19+_BCells(neg._sel.)12.1
CD33+_Myeloid14.55
CD34+21.3
CD4+_Tcells12.35
CD56+_NKCells12.75
CD71+_EarlyErythroid10.85
CD8+_Tcells10.1
CardiacMyocytes16.5
Caudatenucleus37.5
Cerebellum59.6
CerebellumPeduncles103
CiliaryGanglion292.85
CingulateCortex167.3
Colorectaladenocarcinoma11.6
DorsalRootGanglion571.4
FetalThyroid11.35
Fetalbrain11.25
Fetalliver16
Fetallung9.2
GlobusPallidus176.5
Heart21.15
Hypothalamus98.7
Kidney11.35
Leukemia_chronicMyelogenousK-56212.8
Leukemia_promyelocytic-HL-6010.4
Leukemialymphoblastic(MOLT-4)9.15
Liver15.75
Lung12.55
Lymphnode9.75
Lymphoma_burkitts(Daudi)15
Lymphoma_burkitts(Raji)17.7
MedullaOblongata102.8
OccipitalLobe65.05
OlfactoryBulb12.2
Ovary8.05
Pancreas10.95
PancreaticIslet12.25
ParietalLobe146.55
Pituitary54.85
Placenta11.7
Pons106.4
PrefrontalCortex58.85
Prostate365.25
Salivarygland10.75
SkeletalMuscle27.3
Skin10.6
SmoothMuscle14.4
Spinalcord259.3
SubthalamicNucleus264.85
SuperiorCervicalGanglion159.3
TemporalLobe86.6
Testis18.35
TestisGermCell11.3
TestisIntersitial13.9
TestisLeydigCell16
TestisSeminiferousTubule15.45
Thalamus411.25
Thymus8.95
Thyroid13.9
Tongue16.35
Tonsil11.55
Trachea9.75
TrigeminalGanglion433.2
Uterus9.3
UterusCorpus11.35
WholeBlood12.45
Wholebrain47.9
colon11.4
pineal_day697.36
pineal_night787.36
retina16.625
small_intestine10.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14388_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
Amygdala9.56 ± 0.56
Basal Forebrain10.06 ± 0.45
Basal Part of Pons11.29 ± 0.28
Cerebellar Cortex9.9 ± 0.44
Cerebellar Nuclei12.33 ± 0.39
Claustrum9.73 ± 0.49
Epithalamus9.51 ± 0.79
Frontal Lobe10.89 ± 0.96
Globus Pallidus11.38 ± 0.84
Hypothalamus10.2 ± 0.44
Insula9.97 ± 0.45
Limbic Lobe10.2 ± 0.73
Mesencephalon10.5 ± 0.88
Myelencephalon10.47 ± 0.84
Occipital Lobe10.35 ± 0.69
Parietal Lobe10.9 ± 0.58
Pontine Tegmentum10.6 ± 0.93
Striatum9.72 ± 0.72
Subthalamus11.65 ± 0.1
Temporal Lobe10.25 ± 0.54
Thalamus10.93 ± 0.79
White Matter7.92 ± 0.79
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NefhCBCerebellum37.03
100
NefhCTXCerebral cortex49.83
60.74
NefhHIPHippocampal region29.53
47.74
NefhHPFHippocampal formation37.9
52.95
NefhHYHypothalamus41.1
54.28
NefhLSXLateral septal complex35.78
30.32
NefhMBMidbrain67.8
100
NefhMYMedulla81.73
100
NefhOLFOlfactory bulb40.96
48.01
NefhPPons79.28
100
NefhPALPallidum51.48
92.24
NefhRHPRetrohippocampal region49.02
58.2
NefhsAMYStriatum-like amygdalar nuclei26.43
31.79
NefhSTRStriatum14.92
15.1
NefhSTRdStriatum dorsal region10.21
9.92
NefhSTRvStriatum ventral region17.3
17.75
NefhTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00071793 9 404 412 KLLEGEECR 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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