AutismKB 2.0

Annotation Detail for RNF213


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RNF213 ( C17orf27,DKFZp762N1115,FLJ13051,KIAA1554,KIAA1618,MGC46622,MGC9929,NET57 )
Gene Full Name: ring finger protein 213
Band: 17q25.3
Quick LinksEntrez ID:57674; OMIM: NA; Uniprot ID:ALO17_HUMAN; ENSEMBL ID: ENSG00000173821,ENSG00000180843; HGNC ID: 14539
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
blastocyst7 / 62319112
fetus42 / 56401274
neonate3 / 3109796
infant1 / 2362042
juvenile2 / 5555635
adult650 / 1939121335
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor26 / 94178276
cervical tumor3 / 3436687
chondrosarcoma18 / 82823217
colorectal tumor37 / 114246323
esophageal tumor1 / 1729057
gastrointestinal tumor101 / 119369846
germ cell tumor26 / 26384598
glioma2 / 10688318
head and neck tumor19 / 136302139
kidney tumor27 / 68959391
leukemia30 / 95842313
liver tumor7 / 9635972
lung tumor34 / 103127329
lymphoma1 / 7175513
non-neoplasia13 / 97250133
normal381 / 3360307113
ovarian tumor9 / 76682117
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer17 / 102680165
retinoblastoma3 / 4635664
skin tumor8 / 12494964
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor143 / 902571584
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland4 / 33197120
ascites6 / 40015149
bladder0 / 297570 
blood39 / 123478315
bone16 / 71655223
bone marrow2 / 4880140
brain56 / 110098950
cervix4 / 4817183
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus1 / 2020949
eye23 / 211054108
heart6 / 8962666
intestine62 / 234472264
kidney40 / 211777188
larynx8 / 24145331
liver19 / 20774391
lung69 / 336974204
lymph1 / 4427022
lymph node9 / 9161098
mammary gland70 / 153271456
mouth1 / 6705214
muscle7 / 10771564
nerve3 / 15768190
ovary10 / 10205197
pancreas20 / 21481293
parathyroid7 / 20539340
pharynx9 / 41328217
pituitary gland0 / 165850 
placenta22 / 28082578
prostate31 / 189345163
salivary gland0 / 201550 
skin15 / 21057471
spleen17 / 53952315
stomach106 / 966191097
testis3 / 3304429
thymus12 / 81131147
thyroid11 / 47473231
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus165 / 232878708
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P923884
  • 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
Amygdala7.06 ± 0.47
Basal Forebrain7.51 ± 0.35
Basal Part of Pons7 ± 0.44
Cerebellar Cortex6.74 ± 0.28
Cerebellar Nuclei7.75 ± 0.5
Claustrum7.54 ± 0.49
Epithalamus7.52 ± 0.27
Frontal Lobe6.96 ± 0.54
Globus Pallidus8.65 ± 0.27
Hypothalamus7.21 ± 0.55
Insula6.84 ± 0.32
Limbic Lobe6.89 ± 0.63
Mesencephalon7.37 ± 0.49
Myelencephalon7.27 ± 0.53
Occipital Lobe7.52 ± 0.52
Parietal Lobe7.18 ± 0.53
Pontine Tegmentum7.21 ± 0.46
Striatum7.49 ± 0.63
Subthalamus7.3 ± 0.3
Temporal Lobe6.93 ± 0.41
Thalamus7.52 ± 0.3
White Matter9.04 ± 0.53
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00034137 21 404 424 GGEEFGESKWDSNICELHYTR Peptide Atlas

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