AutismKB 2.0

Annotation Detail for RNF130


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Basic Information Top
Gene Symbol:RNF130 ( G1RZFP,GOLIATH,GP,MGC117241,MGC138647,MGC99542 )
Gene Full Name: ring finger protein 130
Band: 5q35.3
Quick LinksEntrez ID:55819; OMIM: NA; Uniprot ID:GOLI_HUMAN; ENSEMBL ID: ENSG00000113269; HGNC ID: 18280
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
blastocyst4 / 6231964
fetus73 / 564012129
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult207 / 1939121106
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma14 / 82823169
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor16 / 26384560
glioma15 / 106883140
head and neck tumor4 / 13630229
kidney tumor4 / 6895958
leukemia10 / 95842104
liver tumor4 / 9635941
lung tumor8 / 10312777
lymphoma1 / 7175513
non-neoplasia8 / 9725082
normal299 / 336030788
ovarian tumor5 / 7668265
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites1 / 4001524
bladder0 / 297570 
blood13 / 123478105
bone14 / 71655195
bone marrow1 / 4880120
brain69 / 110098962
cervix2 / 4817141
connective tissue27 / 149255180
ear3 / 16212185
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye19 / 21105490
heart4 / 8962644
intestine16 / 23447268
kidney30 / 211777141
larynx0 / 241450 
liver18 / 20774386
lung48 / 336974142
lymph1 / 4427022
lymph node2 / 9161021
mammary gland21 / 153271137
mouth1 / 6705214
muscle4 / 10771537
nerve1 / 1576863
ovary7 / 10205168
pancreas19 / 21481288
parathyroid6 / 20539292
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta18 / 28082564
prostate5 / 18934526
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis11 / 33044233
thymus0 / 811310 
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord1 / 1368073
uterus12 / 23287851
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217865_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte190
AdrenalCortex25.05
Adrenalgland77.95
Amygdala234.95
Appendix59.95
AtrioventricularNode35.6
BDCA4+_DentriticCells997.25
Bonemarrow150.45
BronchialEpithelialCells68.4
CD105+_Endothelial161.6
CD14+_Monocytes1473.05
CD19+_BCells(neg._sel.)83.05
CD33+_Myeloid1492.85
CD34+780.5
CD4+_Tcells43.3
CD56+_NKCells246.25
CD71+_EarlyErythroid40.75
CD8+_Tcells41.7
CardiacMyocytes48.45
Caudatenucleus201
Cerebellum69.2
CerebellumPeduncles66.1
CiliaryGanglion23.6
CingulateCortex70.1
Colorectaladenocarcinoma79.3
DorsalRootGanglion43.3
FetalThyroid96.7
Fetalbrain29.7
Fetalliver58.35
Fetallung140.15
GlobusPallidus9.4
Heart41.35
Hypothalamus363
Kidney97.85
Leukemia_chronicMyelogenousK-56224.35
Leukemia_promyelocytic-HL-605.5
Leukemialymphoblastic(MOLT-4)182.1
Liver381.5
Lung356.7
Lymphnode122.35
Lymphoma_burkitts(Daudi)10.35
Lymphoma_burkitts(Raji)9.9
MedullaOblongata151.4
OccipitalLobe173.35
OlfactoryBulb424.65
Ovary49.8
Pancreas45.85
PancreaticIslet193.5
ParietalLobe196.6
Pituitary102.8
Placenta146.55
Pons75.55
PrefrontalCortex115.5
Prostate81.4
Salivarygland151.55
SkeletalMuscle15.05
Skin18.55
SmoothMuscle45.8
Spinalcord451.55
SubthalamicNucleus44.45
SuperiorCervicalGanglion14.1
TemporalLobe35.65
Testis78.1
TestisGermCell49.3
TestisIntersitial17
TestisLeydigCell24.5
TestisSeminiferousTubule34.6
Thalamus263.45
Thymus40.75
Thyroid190.45
Tongue37.65
Tonsil29.9
Trachea227
TrigeminalGanglion31.25
Uterus95.5
UterusCorpus58.3
WholeBlood1222.45
Wholebrain250.35
colon162.7
pineal_day95.28
pineal_night85.7
retina327.35
small_intestine154.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P41734
  • 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
Amygdala8.27 ± 0.53
Basal Forebrain8.91 ± 0.45
Basal Part of Pons8.93 ± 0.34
Cerebellar Cortex8.45 ± 0.15
Cerebellar Nuclei9.91 ± 0.44
Claustrum8.34 ± 0.49
Epithalamus9.16 ± 0.53
Frontal Lobe8.73 ± 0.66
Globus Pallidus10.32 ± 0.31
Hypothalamus8.85 ± 0.44
Insula8.37 ± 0.2
Limbic Lobe8.23 ± 0.52
Mesencephalon8.9 ± 0.64
Myelencephalon8.79 ± 0.46
Occipital Lobe8.63 ± 0.49
Parietal Lobe8.63 ± 0.6
Pontine Tegmentum8.87 ± 0.43
Striatum9.23 ± 0.56
Subthalamus9.48 ± 0.39
Temporal Lobe8.48 ± 0.45
Thalamus9.01 ± 0.41
White Matter11.18 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rnf130CBCerebellum57.32
100
Rnf130CTXCerebral cortex100
100
Rnf130HIPHippocampal region84.91
100
Rnf130HPFHippocampal formation100
100
Rnf130HYHypothalamus94.43
92.99
Rnf130LSXLateral septal complex56.58
56.9
Rnf130MBMidbrain88.45
98.61
Rnf130MYMedulla76.15
100
Rnf130OLFOlfactory bulb100
100
Rnf130PPons83.35
100
Rnf130PALPallidum83.04
91.27
Rnf130RHPRetrohippocampal region100
100
Rnf130sAMYStriatum-like amygdalar nuclei100
100
Rnf130STRStriatum66.55
61.87
Rnf130STRdStriatum dorsal region57.38
51.52
Rnf130STRvStriatum ventral region67.38
59.2
Rnf130THThalamus100
100
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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