AutismKB 2.0

Annotation Detail for ESPNL


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Basic Information Top
Gene Symbol:ESPNL ( FLJ42568,MGC99829 )
Gene Full Name: espin-like
Band: 2q37.3
Quick LinksEntrez ID:339768; OMIM: NA; Uniprot ID:ESPNL_HUMAN; ENSEMBL ID: ENSG00000144488; HGNC ID: 27937
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 body0 / 707610 
blastocyst1 / 6231916
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult6 / 19391213
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal24 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain14 / 110098912
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph1 / 4427022
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_421_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
Amygdala3.39 ± 0.83
Basal Forebrain2.66 ± 0.55
Basal Part of Pons2.79 ± 0.38
Cerebellar Cortex2.91 ± 0.67
Cerebellar Nuclei3.2 ± 0.57
Claustrum3.49 ± 0.92
Epithalamus2.26 ± 1
Frontal Lobe2.89 ± 0.61
Globus Pallidus3.15 ± 0.56
Hypothalamus2.63 ± 0.53
Insula2.03 ± 0.93
Limbic Lobe3.03 ± 0.69
Mesencephalon3.05 ± 0.73
Myelencephalon3.04 ± 0.7
Occipital Lobe3.05 ± 0.79
Parietal Lobe3.06 ± 0.79
Pontine Tegmentum2.89 ± 0.74
Striatum3 ± 0.71
Subthalamus2.86 ± 0.73
Temporal Lobe2.87 ± 0.71
Thalamus3.07 ± 0.67
White Matter2.52 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EspnlCBCerebellum7.26
8.75
EspnlCTXCerebral cortex7.59
5.84
EspnlHIPHippocampal region2.04
1.96
EspnlHPFHippocampal formation1.92
1.74
EspnlHYHypothalamus4.52
3.56
EspnlLSXLateral septal complex0.29
0.22
EspnlMBMidbrain0.89
1.29
EspnlMYMedulla5.08
5.7
EspnlOLFOlfactory bulb16.62
13.46
EspnlPPons1.08
1.62
EspnlPALPallidum4.6
3.97
EspnlRHPRetrohippocampal region1.5
1.19
EspnlsAMYStriatum-like amygdalar nuclei9.83
7.71
EspnlSTRStriatum3.26
2.39
EspnlSTRdStriatum dorsal region1.71
1.22
EspnlSTRvStriatum ventral region4.68
3.11
EspnlTHThalamus1.68
1.39
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