AutismKB 2.0

Annotation Detail for KEAP1


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Basic Information Top
Gene Symbol:KEAP1 ( INrf2,KIAA0132,KLHL19,MGC10630,MGC1114,MGC20887,MGC4407,MGC9454 )
Gene Full Name: kelch-like ECH-associated protein 1
Band: 19p13.2
Quick LinksEntrez ID:9817; OMIM: 606016; Uniprot ID:KEAP1_HUMAN; ENSEMBL ID: ENSG00000079999; HGNC ID: 23177
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 body6 / 7076184
blastocyst2 / 6231932
fetus39 / 56401269
neonate5 / 31097160
infant2 / 2362084
juvenile12 / 55556215
adult196 / 1939121101
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor1 / 3436629
chondrosarcoma13 / 82823156
colorectal tumor11 / 11424696
esophageal tumor1 / 1729057
gastrointestinal tumor18 / 119369150
germ cell tumor67 / 263845253
glioma24 / 106883224
head and neck tumor39 / 136302286
kidney tumor10 / 68959145
leukemia16 / 95842166
liver tumor36 / 96359373
lung tumor23 / 103127223
lymphoma30 / 71755418
non-neoplasia6 / 9725061
normal295 / 336030787
ovarian tumor2 / 7668226
pancreatic tumor22 / 104616210
primitive neuroectodermal tumor of the CNS30 / 125680238
prostate cancer6 / 10268058
retinoblastoma9 / 46356194
skin tumor16 / 124949128
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites13 / 40015324
bladder0 / 297570 
blood9 / 12347872
bone8 / 71655111
bone marrow9 / 48801184
brain147 / 1100989133
cervix1 / 4817120
connective tissue14 / 14925593
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus2 / 2020998
eye27 / 211054127
heart6 / 8962666
intestine24 / 234472102
kidney27 / 211777127
larynx1 / 2414541
liver44 / 207743211
lung43 / 336974127
lymph26 / 44270587
lymph node3 / 9161032
mammary gland13 / 15327184
mouth30 / 67052447
muscle12 / 107715111
nerve2 / 15768126
ovary5 / 10205148
pancreas26 / 214812121
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta23 / 28082581
prostate36 / 189345190
salivary gland1 / 2015549
skin27 / 210574128
spleen10 / 53952185
stomach5 / 9661951
testis32 / 33044296
thymus9 / 81131110
thyroid10 / 47473210
tonsil3 / 16999176
trachea9 / 52413171
umbilical cord0 / 136800 
uterus34 / 232878145
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202417_at
Cell line Expression level Expression bar
721_B_lymphoblasts157.1
Adipocyte43.2
AdrenalCortex31.5
Adrenalgland28.35
Amygdala40.45
Appendix30.3
AtrioventricularNode22.4
BDCA4+_DentriticCells51.2
Bonemarrow33.15
BronchialEpithelialCells40.75
CD105+_Endothelial137.1
CD14+_Monocytes45.2
CD19+_BCells(neg._sel.)21.9
CD33+_Myeloid40.4
CD34+179.95
CD4+_Tcells35.7
CD56+_NKCells107.25
CD71+_EarlyErythroid103.2
CD8+_Tcells35.05
CardiacMyocytes50.1
Caudatenucleus30.45
Cerebellum33.35
CerebellumPeduncles46.2
CiliaryGanglion16.55
CingulateCortex43.85
Colorectaladenocarcinoma71
DorsalRootGanglion22.75
FetalThyroid36.5
Fetalbrain33.2
Fetalliver29.1
Fetallung28.75
GlobusPallidus19.8
Heart71.55
Hypothalamus43.3
Kidney27.05
Leukemia_chronicMyelogenousK-56239.45
Leukemia_promyelocytic-HL-6064.15
Leukemialymphoblastic(MOLT-4)27.9
Liver90
Lung116.5
Lymphnode29.05
Lymphoma_burkitts(Daudi)56.7
Lymphoma_burkitts(Raji)55.65
MedullaOblongata31.25
OccipitalLobe30.65
OlfactoryBulb25.9
Ovary15.3
Pancreas21.35
PancreaticIslet40.1
ParietalLobe41.8
Pituitary39.65
Placenta37.75
Pons32.1
PrefrontalCortex48.6
Prostate85.55
Salivarygland15.45
SkeletalMuscle50.9
Skin25.15
SmoothMuscle38.85
Spinalcord42.25
SubthalamicNucleus35.25
SuperiorCervicalGanglion29.05
TemporalLobe27.85
Testis34.35
TestisGermCell25.2
TestisIntersitial26.3
TestisLeydigCell22.15
TestisSeminiferousTubule29.25
Thalamus43.15
Thymus30.45
Thyroid74.65
Tongue37.15
Tonsil28.8
Trachea26.55
TrigeminalGanglion28.1
Uterus28.2
UterusCorpus27.15
WholeBlood27.35
Wholebrain62.9
colon31.45
pineal_day82
pineal_night56.7
retina42.975
small_intestine33.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9180_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
Amygdala5.14 ± 0.47
Basal Forebrain5.67 ± 0.21
Basal Part of Pons5.79 ± 0.28
Cerebellar Cortex5.71 ± 0.43
Cerebellar Nuclei5.54 ± 0.49
Claustrum5.25 ± 0.49
Epithalamus5.48 ± 0.55
Frontal Lobe5.6 ± 0.43
Globus Pallidus5.74 ± 0.25
Hypothalamus5.75 ± 0.48
Insula5.5 ± 0.44
Limbic Lobe5.31 ± 0.41
Mesencephalon5.47 ± 0.5
Myelencephalon5.49 ± 0.48
Occipital Lobe5.16 ± 0.46
Parietal Lobe5.47 ± 0.43
Pontine Tegmentum5.48 ± 0.45
Striatum5.25 ± 0.36
Subthalamus5.5 ± 0.27
Temporal Lobe5.56 ± 0.43
Thalamus5.71 ± 0.35
White Matter6.8 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Keap1CBCerebellum10.28
10.13
Keap1CTXCerebral cortex35.52
14.42
Keap1HIPHippocampal region23.81
18.58
Keap1HPFHippocampal formation21.21
13.43
Keap1HYHypothalamus12.45
4.48
Keap1LSXLateral septal complex13.17
4.93
Keap1MBMidbrain15.94
8
Keap1MYMedulla21.13
12.26
Keap1OLFOlfactory bulb20.9
8.93
Keap1PPons20.35
10.12
Keap1PALPallidum13.56
5.68
Keap1RHPRetrohippocampal region17.08
6.52
Keap1sAMYStriatum-like amygdalar nuclei11.83
3.9
Keap1STRStriatum13.3
4.44
Keap1STRdStriatum dorsal region11.86
3.74
Keap1STRvStriatum ventral region19.82
6.97
Keap1THThalamus12.08
4.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00070214 17 304 320 IFEELTLHKPTQVMPCR 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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