AutismKB 2.0

Annotation Detail for RNF123


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Basic Information Top
Gene Symbol:RNF123 ( DKFZp686C2222,FLJ12565,KPC1,MGC163504 )
Gene Full Name: ring finger protein 123
Band: 3p21.31
Quick LinksEntrez ID:63891; OMIM: NA; Uniprot ID:RN123_HUMAN; ENSEMBL ID: ENSG00000164068; HGNC ID: 21148
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 body3 / 7076142
blastocyst2 / 6231932
fetus50 / 56401288
neonate5 / 31097160
infant0 / 236200 
juvenile2 / 5555635
adult88 / 193912145
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor17 / 26384564
glioma5 / 10688346
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor7 / 9635972
lung tumor5 / 10312748
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal192 / 336030757
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer6 / 10268058
retinoblastoma3 / 4635664
skin tumor9 / 12494972
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder3 / 29757100
blood5 / 12347840
bone0 / 716550 
bone marrow3 / 4880161
brain95 / 110098986
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye12 / 21105456
heart2 / 8962622
intestine13 / 23447255
kidney3 / 21177714
larynx1 / 2414541
liver13 / 20774362
lung11 / 33697432
lymph3 / 4427067
lymph node4 / 9161043
mammary gland8 / 15327152
mouth2 / 6705229
muscle7 / 10771564
nerve0 / 157680 
ovary3 / 10205129
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta11 / 28082539
prostate8 / 18934542
salivary gland0 / 201550 
skin9 / 21057442
spleen1 / 5395218
stomach3 / 9661931
testis46 / 330442139
thymus7 / 8113186
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord5 / 13680365
uterus17 / 23287872
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221063_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts59.9
Adipocyte55.7
AdrenalCortex59.15
Adrenalgland55.5
Amygdala60.3
Appendix55.85
AtrioventricularNode41.8
BDCA4+_DentriticCells55.85
Bonemarrow84.95
BronchialEpithelialCells52.05
CD105+_Endothelial208.8
CD14+_Monocytes57.9
CD19+_BCells(neg._sel.)45.4
CD33+_Myeloid63.9
CD34+72.3
CD4+_Tcells56.95
CD56+_NKCells62.6
CD71+_EarlyErythroid2064
CD8+_Tcells55.3
CardiacMyocytes55.3
Caudatenucleus54.5
Cerebellum51.55
CerebellumPeduncles71.35
CiliaryGanglion37
CingulateCortex57.5
Colorectaladenocarcinoma51.05
DorsalRootGanglion42.05
FetalThyroid54.9
Fetalbrain60.35
Fetalliver64.25
Fetallung47.75
GlobusPallidus40.7
Heart84.9
Hypothalamus63.2
Kidney52.6
Leukemia_chronicMyelogenousK-56251.2
Leukemia_promyelocytic-HL-6049.65
Leukemialymphoblastic(MOLT-4)46.4
Liver88.95
Lung62.95
Lymphnode49.15
Lymphoma_burkitts(Daudi)78.75
Lymphoma_burkitts(Raji)71.1
MedullaOblongata52.2
OccipitalLobe51.05
OlfactoryBulb44.55
Ovary37.05
Pancreas45.05
PancreaticIslet66.1
ParietalLobe58.8
Pituitary61.25
Placenta60.1
Pons53.35
PrefrontalCortex71.95
Prostate67.15
Salivarygland42.3
SkeletalMuscle88.25
Skin38.65
SmoothMuscle64.55
Spinalcord60.15
SubthalamicNucleus46.9
SuperiorCervicalGanglion63.1
TemporalLobe51.25
Testis60.7
TestisGermCell47.7
TestisIntersitial47.35
TestisLeydigCell55.65
TestisSeminiferousTubule48.7
Thalamus57.05
Thymus46.7
Thyroid72.15
Tongue94
Tonsil54.65
Trachea47.3
TrigeminalGanglion54.6
Uterus44.65
UterusCorpus57.15
WholeBlood62.95
Wholebrain52.95
colon56
pineal_day62.46
pineal_night60.58
retina65.05
small_intestine50.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12322_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 ± 0.79
Basal Forebrain3.69 ± 0.57
Basal Part of Pons4.14 ± 0.53
Cerebellar Cortex4.29 ± 0.56
Cerebellar Nuclei4.01 ± 0.74
Claustrum3.7 ± 0.82
Epithalamus3.77 ± 0.69
Frontal Lobe4.18 ± 0.64
Globus Pallidus2.55 ± 0.68
Hypothalamus3.64 ± 0.5
Insula4.22 ± 0.39
Limbic Lobe3.84 ± 0.76
Mesencephalon3.81 ± 0.71
Myelencephalon3.93 ± 0.76
Occipital Lobe3.41 ± 0.71
Parietal Lobe4.06 ± 0.6
Pontine Tegmentum3.92 ± 0.67
Striatum3.4 ± 0.71
Subthalamus3.97 ± 0.32
Temporal Lobe4.23 ± 0.56
Thalamus3.87 ± 0.74
White Matter3.25 ± 0.67
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RN123_HUMAN_2 11 2 12 ASKGAGMSFSR 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


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