AutismKB 2.0

Annotation Detail for RBM47


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Basic Information Top
Gene Symbol:RBM47 ( DKFZp686F02235,FLJ20273,FLJ21344,FLJ21643,NET18 )
Gene Full Name: RNA binding motif protein 47
Band: 4p14
Quick LinksEntrez ID:54502; OMIM: NA; Uniprot ID:RBM47_HUMAN; ENSEMBL ID: ENSG00000163694; HGNC ID: 30358
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 body7 / 7076198
blastocyst3 / 6231948
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult179 / 193912192
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor5 / 26384518
glioma7 / 10688365
head and neck tumor14 / 136302102
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal192 / 336030757
ovarian tumor8 / 76682104
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer9 / 10268087
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder3 / 29757100
blood12 / 12347897
bone0 / 716550 
bone marrow0 / 488010 
brain10 / 11009899
cervix1 / 4817120
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine27 / 234472115
kidney38 / 211777179
larynx1 / 2414541
liver9 / 20774343
lung22 / 33697465
lymph0 / 442700 
lymph node0 / 916100 
mammary gland29 / 153271189
mouth11 / 67052164
muscle5 / 10771546
nerve3 / 15768190
ovary8 / 10205178
pancreas12 / 21481255
parathyroid18 / 20539876
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta24 / 28082585
prostate23 / 189345121
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach7 / 9661972
testis11 / 33044233
thymus2 / 8113124
thyroid4 / 4747384
tonsil0 / 169990 
trachea32 / 52413610
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218035_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts146.5
Adipocyte7.7
AdrenalCortex81.05
Adrenalgland51.55
Amygdala7.5
Appendix8.75
AtrioventricularNode6.1
BDCA4+_DentriticCells112.25
Bonemarrow9.6
BronchialEpithelialCells42.05
CD105+_Endothelial7.8
CD14+_Monocytes329.75
CD19+_BCells(neg._sel.)8.4
CD33+_Myeloid286.4
CD34+10.15
CD4+_Tcells7.25
CD56+_NKCells10.55
CD71+_EarlyErythroid6.9
CD8+_Tcells6.55
CardiacMyocytes10
Caudatenucleus6.8
Cerebellum6.35
CerebellumPeduncles8.7
CiliaryGanglion5.85
CingulateCortex8.1
Colorectaladenocarcinoma7.5
DorsalRootGanglion6.05
FetalThyroid207.5
Fetalbrain7.25
Fetalliver15.95
Fetallung33
GlobusPallidus5.65
Heart10.05
Hypothalamus7.9
Kidney50.6
Leukemia_chronicMyelogenousK-5626.8
Leukemia_promyelocytic-HL-606.6
Leukemialymphoblastic(MOLT-4)6.1
Liver10.4
Lung8.15
Lymphnode10.35
Lymphoma_burkitts(Daudi)10
Lymphoma_burkitts(Raji)10.85
MedullaOblongata7.1
OccipitalLobe6.55
OlfactoryBulb6.1
Ovary5.75
Pancreas44.95
PancreaticIslet166.35
ParietalLobe8.25
Pituitary9.1
Placenta171.75
Pons7.5
PrefrontalCortex8.9
Prostate144.75
Salivarygland49.75
SkeletalMuscle11.65
Skin7.25
SmoothMuscle8.45
Spinalcord7.95
SubthalamicNucleus7.15
SuperiorCervicalGanglion17.2
TemporalLobe7.95
Testis6.5
TestisGermCell18.7
TestisIntersitial7.45
TestisLeydigCell7.9
TestisSeminiferousTubule7.15
Thalamus7.6
Thymus5.65
Thyroid217.85
Tongue13.8
Tonsil32.2
Trachea80.1
TrigeminalGanglion8.05
Uterus6.1
UterusCorpus7.4
WholeBlood275.55
Wholebrain6.3
colon324.65
pineal_day9.24
pineal_night11.16
retina32.75
small_intestine169.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P132910
  • 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
Amygdala2.06 ± 0.95
Basal Forebrain1.54 ± 0.19
Basal Part of Pons1.72 ± 0.75
Cerebellar Cortex1.49 ± 0.77
Cerebellar Nuclei1.97 ± 0.77
Claustrum2.46 ± 0.82
Epithalamus2.4 ± 0.77
Frontal Lobe1.53 ± 0.66
Globus Pallidus2.4 ± 0.63
Hypothalamus1.82 ± 0.6
Insula1.73 ± 0.89
Limbic Lobe1.61 ± 0.7
Mesencephalon1.77 ± 0.73
Myelencephalon1.68 ± 0.6
Occipital Lobe1.52 ± 0.54
Parietal Lobe1.64 ± 0.71
Pontine Tegmentum1.64 ± 0.74
Striatum2.01 ± 0.76
Subthalamus1.84 ± 0.71
Temporal Lobe1.6 ± 0.69
Thalamus1.56 ± 0.64
White Matter2.7 ± 1.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC013481CBCerebellum2.91
6.4
BC013481CTXCerebral cortex2.47
3
BC013481HIPHippocampal region1.79
1.6
BC013481HPFHippocampal formation2.57
2.28
BC013481HYHypothalamus2.89
4.98
BC013481LSXLateral septal complex0.29
0.39
BC013481MBMidbrain2.28
3.73
BC013481MYMedulla6.23
11.84
BC013481OLFOlfactory bulb5.1
4.84
BC013481PPons7.13
10.33
BC013481PALPallidum1.65
1.59
BC013481RHPRetrohippocampal region4.38
3.47
BC013481sAMYStriatum-like amygdalar nuclei0.77
0.82
BC013481STRStriatum1.12
1.32
BC013481STRdStriatum dorsal region0.47
0.78
BC013481STRvStriatum ventral region3.68
3.32
BC013481THThalamus1.84
3.36
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00027695 12 265 276 SFGQFNPGCVER 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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