AutismKB 2.0

Annotation Detail for RUNDC3A


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Basic Information Top
Gene Symbol:RUNDC3A ( RAP2IP,RPIP-8,RPIP8 )
Gene Full Name: RUN domain containing 3A
Band: 17q21.31
Quick LinksEntrez ID:10900; OMIM: 605448; Uniprot ID:RUN3A_HUMAN; ENSEMBL ID: ENSG00000108309; HGNC ID: 16984
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
blastocyst0 / 623190 
fetus24 / 56401242
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult48 / 193912124
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma23 / 106883215
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal128 / 336030738
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
brain130 / 1100989118
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye8 / 21105437
heart2 / 8962622
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach0 / 966190 
testis3 / 3304429
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: 213439_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.55
Adipocyte12.15
AdrenalCortex24.5
Adrenalgland22.2
Amygdala125.95
Appendix13.25
AtrioventricularNode18.1
BDCA4+_DentriticCells9.6
Bonemarrow14.75
BronchialEpithelialCells10.5
CD105+_Endothelial11.85
CD14+_Monocytes7.05
CD19+_BCells(neg._sel.)13
CD33+_Myeloid18.2
CD34+11.6
CD4+_Tcells9.75
CD56+_NKCells11.35
CD71+_EarlyErythroid13.75
CD8+_Tcells8.65
CardiacMyocytes17.45
Caudatenucleus59.85
Cerebellum107.4
CerebellumPeduncles88.4
CiliaryGanglion18.7
CingulateCortex87.1
Colorectaladenocarcinoma14
DorsalRootGanglion15.5
FetalThyroid14.3
Fetalbrain59.4
Fetalliver14.8
Fetallung9.6
GlobusPallidus77.7
Heart21.4
Hypothalamus73.45
Kidney15.75
Leukemia_chronicMyelogenousK-56211.65
Leukemia_promyelocytic-HL-6012.9
Leukemialymphoblastic(MOLT-4)13.35
Liver17.15
Lung24.1
Lymphnode13.3
Lymphoma_burkitts(Daudi)15.35
Lymphoma_burkitts(Raji)22.55
MedullaOblongata68.55
OccipitalLobe72.85
OlfactoryBulb14.05
Ovary9.4
Pancreas14.6
PancreaticIslet27.7
ParietalLobe57.6
Pituitary76.5
Placenta11.8
Pons59.6
PrefrontalCortex158.45
Prostate18.1
Salivarygland9.85
SkeletalMuscle16.25
Skin11.5
SmoothMuscle16.5
Spinalcord32.4
SubthalamicNucleus68.45
SuperiorCervicalGanglion19
TemporalLobe93.35
Testis15.6
TestisGermCell11.65
TestisIntersitial14.65
TestisLeydigCell13.65
TestisSeminiferousTubule11
Thalamus117.15
Thymus8
Thyroid14.3
Tongue16.45
Tonsil13.45
Trachea14.25
TrigeminalGanglion15.4
Uterus10.95
UterusCorpus12.7
WholeBlood14.1
Wholebrain244.65
colon13.7
pineal_day219.72
pineal_night159.8
retina20.025
small_intestine12.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P91094
  • 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
Amygdala8.09 ± 0.8
Basal Forebrain7.64 ± 0.36
Basal Part of Pons8.73 ± 0.49
Cerebellar Cortex8.36 ± 0.46
Cerebellar Nuclei7.27 ± 0.69
Claustrum7.87 ± 0.64
Epithalamus7.12 ± 0.72
Frontal Lobe8.44 ± 0.53
Globus Pallidus6.45 ± 0.6
Hypothalamus7.97 ± 0.47
Insula8.5 ± 0.34
Limbic Lobe8.39 ± 0.66
Mesencephalon7.78 ± 0.51
Myelencephalon8 ± 0.79
Occipital Lobe7.28 ± 0.88
Parietal Lobe8.15 ± 0.58
Pontine Tegmentum7.93 ± 0.58
Striatum7.29 ± 0.71
Subthalamus8.06 ± 0.26
Temporal Lobe8.5 ± 0.5
Thalamus7.92 ± 0.49
White Matter5.94 ± 0.42
Mouse Brain ISH
Peptide Top

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