AutismKB 2.0

Annotation Detail for EBPL


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Basic Information Top
Gene Symbol:EBPL ( EBRP )
Gene Full Name: emopamil binding protein-like
Band: 13q14.2
Quick LinksEntrez ID:84650; OMIM: NA; Uniprot ID:EBPL_HUMAN; ENSEMBL ID: ENSG00000123179; HGNC ID: 18061
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
blastocyst0 / 623190 
fetus23 / 56401240
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult33 / 193912117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor11 / 26384541
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor9 / 10312787
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal67 / 336030719
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma5 / 46356107
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow3 / 4880161
brain7 / 11009896
cervix0 / 481710 
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye11 / 21105452
heart0 / 896260 
intestine7 / 23447229
kidney13 / 21177761
larynx1 / 2414541
liver1 / 2077434
lung19 / 33697456
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate5 / 18934526
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P90178
  • 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
Amygdala10.35 ± 0.61
Basal Forebrain10.13 ± 0.23
Basal Part of Pons10.43 ± 0.34
Cerebellar Cortex9.78 ± 0.23
Cerebellar Nuclei10.28 ± 0.44
Claustrum10.37 ± 0.47
Epithalamus10.31 ± 0.55
Frontal Lobe10.25 ± 0.45
Globus Pallidus10.51 ± 0.29
Hypothalamus10.21 ± 0.59
Insula10.07 ± 0.45
Limbic Lobe10.12 ± 0.4
Mesencephalon10.2 ± 0.46
Myelencephalon10.2 ± 0.43
Occipital Lobe9.98 ± 0.45
Parietal Lobe10.16 ± 0.37
Pontine Tegmentum10.05 ± 0.4
Striatum10.37 ± 0.46
Subthalamus10.13 ± 0.15
Temporal Lobe10.06 ± 0.44
Thalamus10.31 ± 0.34
White Matter9.89 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EbplCBCerebellum24.49
42.12
EbplCTXCerebral cortex79.11
78.89
EbplHIPHippocampal region56.94
88.35
EbplHPFHippocampal formation81.99
100
EbplHYHypothalamus55.59
60.53
EbplLSXLateral septal complex14.37
12.52
EbplMBMidbrain57.46
72.39
EbplMYMedulla55.3
77.48
EbplOLFOlfactory bulb96.48
100
EbplPPons76.31
100
EbplPALPallidum55.45
73.64
EbplRHPRetrohippocampal region100
100
EbplsAMYStriatum-like amygdalar nuclei45.13
49.92
EbplSTRStriatum42.26
41.51
EbplSTRdStriatum dorsal region42.37
41.74
EbplSTRvStriatum ventral region46.91
41.6
EbplTHThalamus53.65
59.43
Peptide Top

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