AutismKB 2.0

Annotation Detail for RUNX1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RUNX1 ( AML1,AML1-EVI-1,AMLCR1,CBFA2,EVI-1,PEBP2aB )
Gene Full Name: runt-related transcription factor 1
Band: 21q22.12
Quick LinksEntrez ID:861; OMIM: 151385; Uniprot ID:RUNX1_HUMAN; ENSEMBL ID: ENSG00000159216; HGNC ID: 10471
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
blastocyst1 / 6231916
fetus10 / 56401217
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult115 / 193912159
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor8 / 9417884
cervical tumor0 / 343660 
chondrosarcoma11 / 82823132
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor16 / 26384560
glioma4 / 10688337
head and neck tumor10 / 13630273
kidney tumor0 / 689590 
leukemia14 / 95842146
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal94 / 336030727
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder4 / 29757134
blood14 / 123478113
bone5 / 7165569
bone marrow6 / 48801122
brain11 / 11009899
cervix0 / 481710 
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine14 / 23447259
kidney6 / 21177728
larynx4 / 24145165
liver2 / 2077439
lung19 / 33697456
lymph0 / 442700 
lymph node3 / 9161032
mammary gland23 / 153271150
mouth5 / 6705274
muscle3 / 10771527
nerve0 / 157680 
ovary3 / 10205129
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta2 / 2808257
prostate9 / 18934547
salivary gland0 / 201550 
skin6 / 21057428
spleen2 / 5395237
stomach3 / 9661931
testis4 / 33044212
thymus9 / 81131110
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord1 / 1368073
uterus21 / 23287890
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209360_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.6
Adipocyte5
AdrenalCortex4.85
Adrenalgland3.9
Amygdala4.85
Appendix4.8
AtrioventricularNode3.8
BDCA4+_DentriticCells19.3
Bonemarrow4.8
BronchialEpithelialCells4.55
CD105+_Endothelial26.05
CD14+_Monocytes12.9
CD19+_BCells(neg._sel.)6.4
CD33+_Myeloid87.4
CD34+411.55
CD4+_Tcells36.15
CD56+_NKCells23.6
CD71+_EarlyErythroid4.2
CD8+_Tcells26.7
CardiacMyocytes6.35
Caudatenucleus4.15
Cerebellum3.8
CerebellumPeduncles5.25
CiliaryGanglion3.35
CingulateCortex4.75
Colorectaladenocarcinoma34.95
DorsalRootGanglion3.95
FetalThyroid4.4
Fetalbrain4.65
Fetalliver4.05
Fetallung4
GlobusPallidus3.3
Heart5.9
Hypothalamus4.9
Kidney3.75
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)189.3
Liver6.15
Lung8.35
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.55
Lymphoma_burkitts(Raji)6.45
MedullaOblongata4.25
OccipitalLobe4.25
OlfactoryBulb3.7
Ovary3.1
Pancreas4
PancreaticIslet5.5
ParietalLobe4.9
Pituitary5.65
Placenta4.9
Pons4.4
PrefrontalCortex5.7
Prostate5.65
Salivarygland5.55
SkeletalMuscle5.3
Skin4.05
SmoothMuscle5.65
Spinalcord4.9
SubthalamicNucleus4.2
SuperiorCervicalGanglion6.25
TemporalLobe4.2
Testis3.9
TestisGermCell3.85
TestisIntersitial3.85
TestisLeydigCell4.6
TestisSeminiferousTubule4
Thalamus4.7
Thymus11.2
Thyroid5.85
Tongue4.55
Tonsil4.55
Trachea6.05
TrigeminalGanglion4.65
Uterus3.85
UterusCorpus5.9
WholeBlood7
Wholebrain3.75
colon4.75
pineal_day5.68
pineal_night5.58
retina5.675
small_intestine4.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P96403
  • 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
Amygdala2.85 ± 1.16
Basal Forebrain2.53 ± 0.51
Basal Part of Pons2.54 ± 0.63
Cerebellar Cortex2.21 ± 0.5
Cerebellar Nuclei3.13 ± 0.94
Claustrum2.93 ± 0.69
Epithalamus2.94 ± 0.76
Frontal Lobe2.6 ± 0.77
Globus Pallidus3.1 ± 0.57
Hypothalamus2.45 ± 0.94
Insula2.7 ± 0.73
Limbic Lobe2.55 ± 0.78
Mesencephalon2.72 ± 0.81
Myelencephalon2.83 ± 0.85
Occipital Lobe2.74 ± 0.73
Parietal Lobe2.81 ± 0.73
Pontine Tegmentum2.69 ± 0.77
Striatum4.4 ± 0.57
Subthalamus2.68 ± 0.76
Temporal Lobe2.45 ± 0.7
Thalamus2.49 ± 0.64
White Matter2 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Runx1CBCerebellum1
1.46
Runx1CTXCerebral cortex0.26
0.32
Runx1HIPHippocampal region0.14
0.2
Runx1HPFHippocampal formation0.14
0.16
Runx1HYHypothalamus0.24
0.27
Runx1LSXLateral septal complex0.08
0.09
Runx1MBMidbrain0.45
0.56
Runx1MYMedulla0.29
0.37
Runx1OLFOlfactory bulb0.54
1.16
Runx1PPons0.37
0.48
Runx1PALPallidum0.14
0.47
Runx1RHPRetrohippocampal region0.12
0.11
Runx1sAMYStriatum-like amygdalar nuclei0.17
0.23
Runx1STRStriatum0.12
0.15
Runx1STRdStriatum dorsal region0.12
0.11
Runx1STRvStriatum ventral region0.12
0.15
Runx1THThalamus0.16
0.2
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RUNX1_HUMAN_50 15 50 64 SMVEVLADHPGELVR PRIDE

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