AutismKB 2.0

Annotation Detail for RNF216


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Basic Information Top
Gene Symbol:RNF216 ( TRIAD3,U7I1,UBCE7IP1,ZIN )
Gene Full Name: ring finger protein 216
Band: 7p22.1
Quick LinksEntrez ID:54476; OMIM: 609948; Uniprot ID:RN216_HUMAN; ENSEMBL ID: ENSG00000011275; HGNC ID: 21698
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
fetus39 / 56401269
neonate4 / 31097128
infant0 / 236200 
juvenile6 / 55556107
adult105 / 193912154
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor33 / 263845125
glioma7 / 10688365
head and neck tumor8 / 13630258
kidney tumor8 / 68959116
leukemia4 / 9584241
liver tumor8 / 9635983
lung tumor5 / 10312748
lymphoma4 / 7175555
non-neoplasia3 / 9725030
normal199 / 336030759
ovarian tumor8 / 76682104
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor2 / 9025722
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal2 / 33603070 
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood4 / 12347832
bone6 / 7165583
bone marrow1 / 4880120
brain92 / 110098983
cervix1 / 4817120
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus1 / 2020949
eye5 / 21105423
heart4 / 8962644
intestine10 / 23447242
kidney12 / 21177756
larynx1 / 2414541
liver12 / 20774357
lung22 / 33697465
lymph4 / 4427090
lymph node8 / 9161087
mammary gland9 / 15327158
mouth4 / 6705259
muscle3 / 10771527
nerve1 / 1576863
ovary9 / 10205188
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta7 / 28082524
prostate6 / 18934531
salivary gland2 / 2015599
skin9 / 21057442
spleen8 / 53952148
stomach7 / 9661972
testis35 / 330442105
thymus6 / 8113173
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord4 / 13680292
uterus14 / 23287860
vascular5 / 5178096
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218425_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.45
Adipocyte31.8
AdrenalCortex27.25
Adrenalgland16.4
Amygdala19.6
Appendix42.5
AtrioventricularNode14.6
BDCA4+_DentriticCells30.4
Bonemarrow21.6
BronchialEpithelialCells21.25
CD105+_Endothelial17.9
CD14+_Monocytes25.4
CD19+_BCells(neg._sel.)33.7
CD33+_Myeloid22
CD34+29.65
CD4+_Tcells198.1
CD56+_NKCells19.25
CD71+_EarlyErythroid30.05
CD8+_Tcells130.6
CardiacMyocytes25.85
Caudatenucleus21.8
Cerebellum20.4
CerebellumPeduncles53.9
CiliaryGanglion18.3
CingulateCortex27.6
Colorectaladenocarcinoma39.2
DorsalRootGanglion15.85
FetalThyroid23.1
Fetalbrain23.6
Fetalliver15.9
Fetallung15.15
GlobusPallidus15.65
Heart24.75
Hypothalamus23.6
Kidney15.4
Leukemia_chronicMyelogenousK-56242.65
Leukemia_promyelocytic-HL-6015.5
Leukemialymphoblastic(MOLT-4)10.2
Liver73.9
Lung25.3
Lymphnode19.15
Lymphoma_burkitts(Daudi)24.9
Lymphoma_burkitts(Raji)47.75
MedullaOblongata23.4
OccipitalLobe25
OlfactoryBulb31.4
Ovary24.85
Pancreas10.35
PancreaticIslet33.6
ParietalLobe31.85
Pituitary37.95
Placenta49.9
Pons44.15
PrefrontalCortex45.2
Prostate27.65
Salivarygland14.15
SkeletalMuscle32.15
Skin33.8
SmoothMuscle47.45
Spinalcord19.8
SubthalamicNucleus16.65
SuperiorCervicalGanglion23.95
TemporalLobe18.1
Testis20.25
TestisGermCell40.3
TestisIntersitial33.35
TestisLeydigCell49.5
TestisSeminiferousTubule55.05
Thalamus19.2
Thymus21.5
Thyroid31.75
Tongue18.55
Tonsil46.05
Trachea14.95
TrigeminalGanglion40.25
Uterus27
UterusCorpus28.35
WholeBlood65.65
Wholebrain22.15
colon17.15
pineal_day26.4
pineal_night30.2
retina55.15
small_intestine21.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P42724
  • 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
Amygdala6.7 ± 0.31
Basal Forebrain6.99 ± 0.21
Basal Part of Pons6.6 ± 0.32
Cerebellar Cortex6.92 ± 0.25
Cerebellar Nuclei6.48 ± 0.32
Claustrum6.44 ± 0.48
Epithalamus6.7 ± 0.29
Frontal Lobe6.69 ± 0.3
Globus Pallidus7.03 ± 0.32
Hypothalamus7.03 ± 0.44
Insula6.71 ± 0.42
Limbic Lobe6.66 ± 0.31
Mesencephalon6.69 ± 0.48
Myelencephalon6.73 ± 0.34
Occipital Lobe6.58 ± 0.31
Parietal Lobe6.85 ± 0.34
Pontine Tegmentum6.8 ± 0.28
Striatum6.86 ± 0.39
Subthalamus6.53 ± 0.47
Temporal Lobe6.74 ± 0.29
Thalamus6.7 ± 0.37
White Matter7.62 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2810055G22RikCBCerebellum11.19
13.47
2810055G22RikCTXCerebral cortex17.98
12.88
2810055G22RikHIPHippocampal region13.89
14.35
2810055G22RikHPFHippocampal formation14.27
13.77
2810055G22RikHYHypothalamus1.87
1.27
2810055G22RikLSXLateral septal complex2.07
1.62
2810055G22RikMBMidbrain3.28
2.93
2810055G22RikMYMedulla9.71
9.79
2810055G22RikOLFOlfactory bulb19.34
13.88
2810055G22RikPPons5.79
5.8
2810055G22RikPALPallidum5.08
4.73
2810055G22RikRHPRetrohippocampal region14.65
12.47
2810055G22RiksAMYStriatum-like amygdalar nuclei14.37
9.9
2810055G22RikSTRStriatum9.3
6.24
2810055G22RikSTRdStriatum dorsal region9.65
6.72
2810055G22RikSTRvStriatum ventral region9.99
5.75
2810055G22RikTHThalamus4.43
3.32
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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