AutismKB 2.0

Annotation Detail for NRF1


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Basic Information Top
Gene Symbol:NRF1 ( ALPHA-PAL )
Gene Full Name: nuclear respiratory factor 1
Band: 7q32.2
Quick LinksEntrez ID:4899; OMIM: 600879; Uniprot ID:NRF1_HUMAN; ENSEMBL ID: ENSG00000106459; HGNC ID: 7996
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
blastocyst2 / 6231932
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult29 / 193912114
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 tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor9 / 26384534
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia0 / 972500 
normal55 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites5 / 40015124
bladder1 / 2975733
blood3 / 12347824
bone3 / 7165541
bone marrow1 / 4880120
brain13 / 110098911
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye9 / 21105442
heart2 / 8962622
intestine4 / 23447217
kidney4 / 21177718
larynx0 / 241450 
liver4 / 20774319
lung2 / 3369745
lymph0 / 442700 
lymph node5 / 9161054
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate4 / 18934521
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach2 / 9661920
testis3 / 3304429
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204651_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.6
Adipocyte5.4
AdrenalCortex6.2
Adrenalgland4.8
Amygdala5.85
Appendix6.55
AtrioventricularNode4.65
BDCA4+_DentriticCells6.05
Bonemarrow6.1
BronchialEpithelialCells5.25
CD105+_Endothelial5.9
CD14+_Monocytes6.5
CD19+_BCells(neg._sel.)11.5
CD33+_Myeloid8.9
CD34+8.65
CD4+_Tcells8.1
CD56+_NKCells7.6
CD71+_EarlyErythroid20.2
CD8+_Tcells8.4
CardiacMyocytes7.85
Caudatenucleus4.95
Cerebellum4.8
CerebellumPeduncles6.4
CiliaryGanglion4.25
CingulateCortex5.85
Colorectaladenocarcinoma5.65
DorsalRootGanglion6.15
FetalThyroid5.45
Fetalbrain6.25
Fetalliver5.3
Fetallung4.35
GlobusPallidus4.15
Heart7.6
Hypothalamus5.8
Kidney4.7
Leukemia_chronicMyelogenousK-5625.05
Leukemia_promyelocytic-HL-604.8
Leukemialymphoblastic(MOLT-4)4.55
Liver7.65
Lung6.05
Lymphnode5
Lymphoma_burkitts(Daudi)7.2
Lymphoma_burkitts(Raji)8.1
MedullaOblongata5.1
OccipitalLobe5
OlfactoryBulb4.45
Ovary4
Pancreas4.6
PancreaticIslet6.05
ParietalLobe6.15
Pituitary6.55
Placenta5.65
Pons5.4
PrefrontalCortex8.9
Prostate6.55
Salivarygland4.5
SkeletalMuscle6.95
Skin4.8
SmoothMuscle6.1
Spinalcord6
SubthalamicNucleus5.25
SuperiorCervicalGanglion9.7
TemporalLobe5.35
Testis4.8
TestisGermCell4.6
TestisIntersitial4.6
TestisLeydigCell5.65
TestisSeminiferousTubule4.85
Thalamus5.65
Thymus6.1
Thyroid6.85
Tongue5.7
Tonsil5.5
Trachea4.55
TrigeminalGanglion7.1
Uterus4.45
UterusCorpus5.35
WholeBlood12.9
Wholebrain4.7
colon5.55
pineal_day9.56
pineal_night7.94
retina10.525
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9120_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
Amygdala4.04 ± 0.72
Basal Forebrain4.17 ± 0.66
Basal Part of Pons3.59 ± 0.49
Cerebellar Cortex4.5 ± 0.26
Cerebellar Nuclei3.95 ± 0.65
Claustrum3.73 ± 0.9
Epithalamus4.34 ± 0.58
Frontal Lobe3.92 ± 0.55
Globus Pallidus4.08 ± 0.64
Hypothalamus3.57 ± 0.34
Insula3.87 ± 0.39
Limbic Lobe3.88 ± 0.63
Mesencephalon4.11 ± 0.68
Myelencephalon3.96 ± 0.63
Occipital Lobe3.9 ± 0.56
Parietal Lobe3.9 ± 0.62
Pontine Tegmentum4.02 ± 0.57
Striatum3.98 ± 0.63
Subthalamus3.74 ± 0.87
Temporal Lobe3.95 ± 0.57
Thalamus3.85 ± 0.55
White Matter5.3 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nrf1CBCerebellum0.97
0.72
Nrf1CTXCerebral cortex0.21
0.17
Nrf1HIPHippocampal region3.28
1.45
Nrf1HPFHippocampal formation2.29
1
Nrf1HYHypothalamus0.42
0.2
Nrf1LSXLateral septal complex0.3
0.15
Nrf1MBMidbrain0.66
0.51
Nrf1MYMedulla2.81
1.82
Nrf1OLFOlfactory bulb0.32
0.21
Nrf1PPons1.79
1.28
Nrf1PALPallidum0.16
0.25
Nrf1RHPRetrohippocampal region0.61
0.38
Nrf1sAMYStriatum-like amygdalar nuclei0.2
0.22
Nrf1STRStriatum0.17
0.11
Nrf1STRdStriatum dorsal region0.12
0.08
Nrf1STRvStriatum ventral region0.19
0.13
Nrf1THThalamus0.17
0.11
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00072099 13 92 104 KRPHVFESNPSIR 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