AutismKB 2.0

Annotation Detail for ESRP2


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Basic Information Top
Gene Symbol:ESRP2 ( FLJ21918,FLJ22248,RBM35B )
Gene Full Name: epithelial splicing regulatory protein 2
Band: 16q22.1
Quick LinksEntrez ID:80004; OMIM: 612960; Uniprot ID:ESRP2_HUMAN; ENSEMBL ID: ENSG00000103067; HGNC ID: 26152
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 body4 / 7076156
blastocyst1 / 6231916
fetus8 / 56401214
neonate2 / 3109764
infant0 / 236200 
juvenile3 / 5555653
adult71 / 193912136
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal63 / 336030718
ovarian tumor6 / 7668278
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine12 / 23447251
kidney7 / 21177733
larynx2 / 2414582
liver7 / 20774333
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland9 / 15327158
mouth4 / 6705259
muscle0 / 1077150 
nerve0 / 157680 
ovary6 / 10205158
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta17 / 28082560
prostate9 / 18934547
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach2 / 9661920
testis4 / 33044212
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219395_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.15
Adipocyte11.5
AdrenalCortex12.9
Adrenalgland10.45
Amygdala9.4
Appendix11.85
AtrioventricularNode15.25
BDCA4+_DentriticCells9.55
Bonemarrow12.35
BronchialEpithelialCells18.15
CD105+_Endothelial10.9
CD14+_Monocytes11
CD19+_BCells(neg._sel.)11.65
CD33+_Myeloid13.2
CD34+14.05
CD4+_Tcells11.25
CD56+_NKCells13.45
CD71+_EarlyErythroid11.05
CD8+_Tcells9.65
CardiacMyocytes14.95
Caudatenucleus10.55
Cerebellum9.75
CerebellumPeduncles14.65
CiliaryGanglion9.4
CingulateCortex17.25
Colorectaladenocarcinoma13
DorsalRootGanglion13.05
FetalThyroid17.6
Fetalbrain13.9
Fetalliver14.55
Fetallung21.8
GlobusPallidus10.8
Heart15.5
Hypothalamus10.55
Kidney13.05
Leukemia_chronicMyelogenousK-56214.25
Leukemia_promyelocytic-HL-6010.2
Leukemialymphoblastic(MOLT-4)9.45
Liver19.15
Lung17.5
Lymphnode12.65
Lymphoma_burkitts(Daudi)14.5
Lymphoma_burkitts(Raji)17.2
MedullaOblongata10.3
OccipitalLobe12.15
OlfactoryBulb9.45
Ovary7.65
Pancreas14.15
PancreaticIslet16.8
ParietalLobe19.15
Pituitary14.35
Placenta33.55
Pons12.05
PrefrontalCortex10.05
Prostate23.75
Salivarygland10.7
SkeletalMuscle14.4
Skin18.7
SmoothMuscle12.85
Spinalcord15.55
SubthalamicNucleus14.85
SuperiorCervicalGanglion13
TemporalLobe10.2
Testis24.15
TestisGermCell18.45
TestisIntersitial11.4
TestisLeydigCell20.15
TestisSeminiferousTubule10.95
Thalamus12
Thymus9.15
Thyroid16.9
Tongue30.95
Tonsil24.1
Trachea17.1
TrigeminalGanglion12.05
Uterus8.95
UterusCorpus9.55
WholeBlood8.75
Wholebrain7.85
colon11.3
pineal_day12.84
pineal_night11.54
retina10.95
small_intestine10.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12774_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
Amygdala3.67 ± 0.86
Basal Forebrain2.95 ± 0.5
Basal Part of Pons3.4 ± 0.59
Cerebellar Cortex2.88 ± 0.63
Cerebellar Nuclei3.26 ± 0.67
Claustrum3.63 ± 0.62
Epithalamus2.58 ± 0.77
Frontal Lobe3.11 ± 0.65
Globus Pallidus2.85 ± 0.63
Hypothalamus2.7 ± 0.44
Insula2.85 ± 0.71
Limbic Lobe3.37 ± 0.65
Mesencephalon3.23 ± 0.66
Myelencephalon3.2 ± 0.72
Occipital Lobe3.22 ± 0.76
Parietal Lobe3.37 ± 0.72
Pontine Tegmentum3.09 ± 0.68
Striatum3.92 ± 0.54
Subthalamus3.08 ± 0.91
Temporal Lobe3.16 ± 0.72
Thalamus3.02 ± 0.66
White Matter2.34 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rbm35bCBCerebellum3.61
4.06
Rbm35bCTXCerebral cortex1.7
1.79
Rbm35bHIPHippocampal region1.91
1.86
Rbm35bHPFHippocampal formation1.62
1.49
Rbm35bHYHypothalamus0.79
0.65
Rbm35bLSXLateral septal complex0.19
0.13
Rbm35bMBMidbrain0.88
1.09
Rbm35bMYMedulla3.23
4.2
Rbm35bOLFOlfactory bulb2.47
1.75
Rbm35bPPons4.3
5.59
Rbm35bPALPallidum0.46
0.41
Rbm35bRHPRetrohippocampal region1.17
1.03
Rbm35bsAMYStriatum-like amygdalar nuclei0.55
0.65
Rbm35bSTRStriatum1.34
1.72
Rbm35bSTRdStriatum dorsal region1.81
2.32
Rbm35bSTRvStriatum ventral region0.54
0.8
Rbm35bTHThalamus0.55
0.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00496569 27 438 464 YASGPLLPTLTAPLLPIPFPLAPGTGR 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