AutismKB 2.0

Annotation Detail for RNF43


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Basic Information Top
Gene Symbol:RNF43 ( DKFZp781H02126,DKFZp781H0392,FLJ20315,FLJ77466,FLJ99338,MGC125630,RNF124,URCC )
Gene Full Name: ring finger protein 43
Band: 17q23.2
Quick LinksEntrez ID:54894; OMIM: 612482; Uniprot ID:RNF43_HUMAN; ENSEMBL ID: ENSG00000108375; HGNC ID: 18505
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 body2 / 7076128
blastocyst0 / 623190 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult83 / 193912142
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor28 / 114246245
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor13 / 13630295
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal68 / 336030720
ovarian tumor5 / 7668265
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye4 / 21105418
heart1 / 8962611
intestine46 / 234472196
kidney3 / 21177714
larynx0 / 241450 
liver8 / 20774338
lung5 / 33697414
lymph0 / 442700 
lymph node2 / 9161021
mammary gland6 / 15327139
mouth13 / 67052193
muscle6 / 10771555
nerve0 / 157680 
ovary6 / 10205158
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate8 / 18934542
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach17 / 96619175
testis2 / 3304426
thymus1 / 8113112
thyroid0 / 474730 
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218704_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.35
Adipocyte4.85
AdrenalCortex5.35
Adrenalgland4.6
Amygdala5.15
Appendix5.3
AtrioventricularNode4
BDCA4+_DentriticCells5.3
Bonemarrow5.1
BronchialEpithelialCells5.3
CD105+_Endothelial5.05
CD14+_Monocytes5.25
CD19+_BCells(neg._sel.)5.35
CD33+_Myeloid6.4
CD34+6.4
CD4+_Tcells5.2
CD56+_NKCells5.9
CD71+_EarlyErythroid4.65
CD8+_Tcells4.85
CardiacMyocytes6.45
Caudatenucleus4.45
Cerebellum4
CerebellumPeduncles5.8
CiliaryGanglion3.7
CingulateCortex5.2
Colorectaladenocarcinoma85.5
DorsalRootGanglion3.85
FetalThyroid4.9
Fetalbrain4.9
Fetalliver4.3
Fetallung4.3
GlobusPallidus3.75
Heart6.35
Hypothalamus5.1
Kidney4.6
Leukemia_chronicMyelogenousK-5624.25
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)3.95
Liver12.75
Lung5.55
Lymphnode4.2
Lymphoma_burkitts(Daudi)6.4
Lymphoma_burkitts(Raji)7.05
MedullaOblongata4.55
OccipitalLobe4.35
OlfactoryBulb3.9
Ovary3.35
Pancreas100.1
PancreaticIslet5.4
ParietalLobe5.2
Pituitary5.85
Placenta5.15
Pons4.8
PrefrontalCortex5.85
Prostate6.05
Salivarygland4.1
SkeletalMuscle6.35
Skin4.25
SmoothMuscle5.6
Spinalcord5.35
SubthalamicNucleus4.65
SuperiorCervicalGanglion6.15
TemporalLobe4.6
Testis4.3
TestisGermCell4.15
TestisIntersitial4.2
TestisLeydigCell4.95
TestisSeminiferousTubule4.3
Thalamus4.95
Thymus3.95
Thyroid6.15
Tongue7.1
Tonsil4.9
Trachea4.2
TrigeminalGanglion6.15
Uterus4.05
UterusCorpus5.2
WholeBlood5.4
Wholebrain3.9
colon5.05
pineal_day6.16
pineal_night5.96
retina6.075
small_intestine4.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8844_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
Amygdala9.82 ± 0.5
Basal Forebrain9.87 ± 0.31
Basal Part of Pons9.78 ± 0.27
Cerebellar Cortex9.93 ± 0.43
Cerebellar Nuclei9.86 ± 0.17
Claustrum10.19 ± 0.57
Epithalamus9.59 ± 0.51
Frontal Lobe9.71 ± 0.48
Globus Pallidus10.41 ± 0.3
Hypothalamus9.48 ± 0.41
Insula9.55 ± 0.42
Limbic Lobe9.74 ± 0.52
Mesencephalon9.81 ± 0.41
Myelencephalon9.76 ± 0.48
Occipital Lobe10.08 ± 0.48
Parietal Lobe9.76 ± 0.47
Pontine Tegmentum9.7 ± 0.45
Striatum9.65 ± 0.46
Subthalamus9.64 ± 0.3
Temporal Lobe9.57 ± 0.53
Thalamus10.09 ± 0.49
White Matter10.5 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rnf43CBCerebellum35.95
61.64
Rnf43CTXCerebral cortex19.3
13.63
Rnf43HIPHippocampal region20.91
23.73
Rnf43HPFHippocampal formation18.23
17.86
Rnf43HYHypothalamus5.96
4.36
Rnf43LSXLateral septal complex9.62
7.04
Rnf43MBMidbrain13.99
12.77
Rnf43MYMedulla15.59
14.77
Rnf43OLFOlfactory bulb26.84
21.21
Rnf43PPons13.75
14.06
Rnf43PALPallidum7.9
5.95
Rnf43RHPRetrohippocampal region13.88
10.2
Rnf43sAMYStriatum-like amygdalar nuclei9.58
5.96
Rnf43STRStriatum11.27
7.7
Rnf43STRdStriatum dorsal region10.26
7.24
Rnf43STRvStriatum ventral region15.16
9.38
Rnf43THThalamus16.54
14.82
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


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