AutismKB 2.0

Annotation Detail for ESRP1


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Basic Information Top
Gene Symbol:ESRP1 ( FLJ20171,RBM35A,RMB35A )
Gene Full Name: epithelial splicing regulatory protein 1
Band: 8q22.1
Quick LinksEntrez ID:54845; OMIM: 612959; Uniprot ID:ESRP1_HUMAN; ENSEMBL ID: ENSG00000104413; HGNC ID: 25966
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 body6 / 7076184
blastocyst9 / 62319144
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult113 / 193912158
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor11 / 94178116
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor10 / 11424687
esophageal tumor6 / 17290347
gastrointestinal tumor23 / 119369192
germ cell tumor7 / 26384526
glioma0 / 1068830 
head and neck tumor14 / 136302102
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor7 / 9635972
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal79 / 336030723
ovarian tumor5 / 7668265
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor20 / 125191159
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites13 / 40015324
bladder10 / 29757336
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue20 / 149255133
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus6 / 20209296
eye2 / 2110549
heart0 / 896260 
intestine22 / 23447293
kidney7 / 21177733
larynx3 / 24145124
liver9 / 20774343
lung17 / 33697450
lymph0 / 442700 
lymph node0 / 916100 
mammary gland19 / 153271123
mouth5 / 6705274
muscle0 / 1077150 
nerve1 / 1576863
ovary6 / 10205158
pancreas10 / 21481246
parathyroid2 / 2053997
pharynx5 / 41328120
pituitary gland1 / 1658560
placenta9 / 28082532
prostate10 / 18934552
salivary gland1 / 2015549
skin8 / 21057437
spleen0 / 539520 
stomach10 / 96619103
testis4 / 33044212
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219121_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.75
Adipocyte3.65
AdrenalCortex4.15
Adrenalgland3.35
Amygdala4.05
Appendix4.2
AtrioventricularNode2.95
BDCA4+_DentriticCells4.2
Bonemarrow3.75
BronchialEpithelialCells98.1
CD105+_Endothelial3.75
CD14+_Monocytes4.05
CD19+_BCells(neg._sel.)4
CD33+_Myeloid4.65
CD34+4.75
CD4+_Tcells4.15
CD56+_NKCells4.4
CD71+_EarlyErythroid3.6
CD8+_Tcells3.6
CardiacMyocytes4.8
Caudatenucleus3.35
Cerebellum3.1
CerebellumPeduncles4.35
CiliaryGanglion2.95
CingulateCortex3.85
Colorectaladenocarcinoma3.85
DorsalRootGanglion3
FetalThyroid3.9
Fetalbrain3.75
Fetalliver3.25
Fetallung3.15
GlobusPallidus2.8
Heart5.8
Hypothalamus4.1
Kidney3.3
Leukemia_chronicMyelogenousK-5623.4
Leukemia_promyelocytic-HL-603.35
Leukemialymphoblastic(MOLT-4)3
Liver5.05
Lung4.2
Lymphnode3.2
Lymphoma_burkitts(Daudi)4.85
Lymphoma_burkitts(Raji)5.7
MedullaOblongata3.45
OccipitalLobe3.4
OlfactoryBulb3
Ovary2.65
Pancreas12
PancreaticIslet4.5
ParietalLobe4.05
Pituitary4.5
Placenta3.9
Pons3.7
PrefrontalCortex4.75
Prostate5.25
Salivarygland3.7
SkeletalMuscle4.3
Skin3.3
SmoothMuscle4.25
Spinalcord4
SubthalamicNucleus3.55
SuperiorCervicalGanglion5.2
TemporalLobe3.45
Testis3.25
TestisGermCell3.15
TestisIntersitial3.25
TestisLeydigCell3.85
TestisSeminiferousTubule3.25
Thalamus3.8
Thymus2.95
Thyroid5.95
Tongue4.75
Tonsil3.75
Trachea5.5
TrigeminalGanglion4.35
Uterus3.1
UterusCorpus3.6
WholeBlood4.15
Wholebrain3.2
colon66
pineal_day4.64
pineal_night4.58
retina4.6
small_intestine7.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14452_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
Amygdala1.97 ± 1.09
Basal Forebrain1.47 ± 0.21
Basal Part of Pons1.32 ± 0.57
Cerebellar Cortex1.35 ± 0.87
Cerebellar Nuclei1.73 ± 0.71
Claustrum2.39 ± 0.89
Epithalamus1.36 ± 0.95
Frontal Lobe1.31 ± 0.64
Globus Pallidus2.22 ± 0.63
Hypothalamus1.58 ± 0.73
Insula1.37 ± 0.63
Limbic Lobe1.45 ± 0.73
Mesencephalon1.64 ± 0.73
Myelencephalon1.54 ± 0.71
Occipital Lobe1.54 ± 0.64
Parietal Lobe1.57 ± 0.82
Pontine Tegmentum1.52 ± 0.72
Striatum1.7 ± 0.69
Subthalamus1.64 ± 0.66
Temporal Lobe1.38 ± 0.7
Thalamus1.46 ± 0.6
White Matter2.08 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rbm35aCBCerebellum14.21
14.69
Rbm35aCTXCerebral cortex38.2
26.78
Rbm35aHIPHippocampal region32.27
36.09
Rbm35aHPFHippocampal formation41.37
39.68
Rbm35aHYHypothalamus20.99
16.73
Rbm35aLSXLateral septal complex9.19
6.8
Rbm35aMBMidbrain14.51
14.13
Rbm35aMYMedulla30.16
30.29
Rbm35aOLFOlfactory bulb72.77
61.4
Rbm35aPPons25.71
28.02
Rbm35aPALPallidum14.92
11.38
Rbm35aRHPRetrohippocampal region61.2
47.93
Rbm35asAMYStriatum-like amygdalar nuclei33.69
23.82
Rbm35aSTRStriatum31.22
22.56
Rbm35aSTRdStriatum dorsal region30.83
21.83
Rbm35aSTRvStriatum ventral region41.03
29.8
Rbm35aTHThalamus13.61
10.07
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ESRP1_HUMAN_252 12 252 263 GGAALCLNAQGR PRIDE
PAp00025469 25 332 356 GLPFTATAEEVVAFFGQHCPITGGK 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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