AutismKB 2.0

Annotation Detail for RNF40


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Basic Information Top
Gene Symbol:RNF40 ( BRE1B,DKFZp686K191,KIAA0661,MGC13051,RBP95,STARING )
Gene Full Name: ring finger protein 40
Band: 16p11.2
Quick LinksEntrez ID:9810; OMIM: 607700; Uniprot ID:BRE1B_HUMAN; ENSEMBL ID: ENSG00000103549; HGNC ID: 16867
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 body10 / 70761141
blastocyst10 / 62319160
fetus108 / 564012191
neonate38 / 310971221
infant0 / 236200 
juvenile3 / 5555653
adult208 / 1939121107
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) tumor22 / 94178233
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor11 / 11424696
esophageal tumor3 / 17290173
gastrointestinal tumor7 / 11936958
germ cell tumor72 / 263845272
glioma14 / 106883130
head and neck tumor29 / 136302212
kidney tumor6 / 6895987
leukemia11 / 95842114
liver tumor7 / 9635972
lung tumor15 / 103127145
lymphoma16 / 71755222
non-neoplasia7 / 9725071
normal530 / 3360307157
ovarian tumor5 / 7668265
pancreatic tumor21 / 104616200
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer11 / 102680107
retinoblastoma8 / 46356172
skin tumor24 / 124949192
soft tissue/muscle tissue tumor23 / 125191183
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder2 / 2975767
blood15 / 123478121
bone3 / 7165541
bone marrow2 / 4880140
brain300 / 1100989272
cervix6 / 48171124
connective tissue12 / 14925580
ear4 / 16212246
embryonic tissue27 / 215722125
esophagus3 / 20209148
eye21 / 21105499
heart4 / 8962644
intestine27 / 234472115
kidney13 / 21177761
larynx0 / 241450 
liver9 / 20774343
lung37 / 336974109
lymph12 / 44270271
lymph node5 / 9161054
mammary gland26 / 153271169
mouth26 / 67052387
muscle20 / 107715185
nerve1 / 1576863
ovary8 / 10205178
pancreas22 / 214812102
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta34 / 280825121
prostate16 / 18934584
salivary gland4 / 20155198
skin27 / 210574128
spleen10 / 53952185
stomach2 / 9661920
testis202 / 330442611
thymus26 / 81131320
thyroid3 / 4747363
tonsil0 / 169990 
trachea32 / 52413610
umbilical cord44 / 136803216
uterus50 / 232878214
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206845_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.85
Adipocyte2.5
AdrenalCortex2.55
Adrenalgland2.15
Amygdala2.7
Appendix2.5
AtrioventricularNode1.85
BDCA4+_DentriticCells6.15
Bonemarrow2.6
BronchialEpithelialCells2.5
CD105+_Endothelial18.35
CD14+_Monocytes11.7
CD19+_BCells(neg._sel.)4.5
CD33+_Myeloid7.1
CD34+12.65
CD4+_Tcells3.6
CD56+_NKCells7.6
CD71+_EarlyErythroid36.95
CD8+_Tcells3.35
CardiacMyocytes3.15
Caudatenucleus2.25
Cerebellum2.05
CerebellumPeduncles3.3
CiliaryGanglion1.7
CingulateCortex2.55
Colorectaladenocarcinoma2.6
DorsalRootGanglion1.85
FetalThyroid3.05
Fetalbrain2.55
Fetalliver2.15
Fetallung2.15
GlobusPallidus1.8
Heart3.15
Hypothalamus2.8
Kidney2
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-602.25
Leukemialymphoblastic(MOLT-4)3
Liver3.3
Lung3.55
Lymphnode2.15
Lymphoma_burkitts(Daudi)3.2
Lymphoma_burkitts(Raji)3.5
MedullaOblongata2.3
OccipitalLobe2.3
OlfactoryBulb2
Ovary1.7
Pancreas1.95
PancreaticIslet2.7
ParietalLobe2.6
Pituitary2.95
Placenta2.65
Pons2.4
PrefrontalCortex3.2
Prostate3.6
Salivarygland2
SkeletalMuscle2.7
Skin1.9
SmoothMuscle2.9
Spinalcord2.7
SubthalamicNucleus2.25
SuperiorCervicalGanglion2.75
TemporalLobe2.3
Testis7.7
TestisGermCell15
TestisIntersitial2.65
TestisLeydigCell2.5
TestisSeminiferousTubule3.1
Thalamus2.55
Thymus2.05
Thyroid4.3
Tongue2.45
Tonsil2.5
Trachea2.1
TrigeminalGanglion2.45
Uterus2.1
UterusCorpus2.2
WholeBlood3.5
Wholebrain2.2
colon2.55
pineal_day3.22
pineal_night3.36
retina3.1
small_intestine2.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8730_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
Amygdala4.61 ± 0.64
Basal Forebrain4.67 ± 0.48
Basal Part of Pons4.52 ± 0.51
Cerebellar Cortex5.04 ± 0.4
Cerebellar Nuclei4.34 ± 0.81
Claustrum4.48 ± 0.68
Epithalamus4.59 ± 0.36
Frontal Lobe4.71 ± 0.47
Globus Pallidus4.7 ± 0.31
Hypothalamus4.3 ± 0.56
Insula4.68 ± 0.51
Limbic Lobe4.83 ± 0.52
Mesencephalon4.6 ± 0.46
Myelencephalon4.69 ± 0.51
Occipital Lobe4.54 ± 0.44
Parietal Lobe4.7 ± 0.52
Pontine Tegmentum4.66 ± 0.62
Striatum4.34 ± 0.39
Subthalamus4.53 ± 0.47
Temporal Lobe4.77 ± 0.51
Thalamus4.56 ± 0.54
White Matter5.03 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rnf40CBCerebellum5.27
5.22
Rnf40CTXCerebral cortex10.85
7.91
Rnf40HIPHippocampal region19.31
18.51
Rnf40HPFHippocampal formation18.11
15.93
Rnf40HYHypothalamus5.15
8.83
Rnf40LSXLateral septal complex1.22
1.06
Rnf40MBMidbrain2.74
3.3
Rnf40MYMedulla5.27
5.88
Rnf40OLFOlfactory bulb26.86
20.23
Rnf40PPons7.38
9.68
Rnf40PALPallidum1.55
1.85
Rnf40RHPRetrohippocampal region15.99
12.11
Rnf40sAMYStriatum-like amygdalar nuclei5.98
4.09
Rnf40STRStriatum3.27
2.46
Rnf40STRdStriatum dorsal region1.86
1.22
Rnf40STRvStriatum ventral region8.51
6.94
Rnf40THThalamus1.69
1.29
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001214 12 986 997 CNAAFGAHDFHR 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


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