AutismKB 2.0

Annotation Detail for EMILIN3


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Basic Information Top
Gene Symbol:EMILIN3 ( C20orf130,DKFZp434A2410,EMILIN5,dJ620E11.4 )
Gene Full Name: elastin microfibril interfacer 3
Band: 20q12
Quick LinksEntrez ID:90187; OMIM: 608929; Uniprot ID:EMIL3_HUMAN; ENSEMBL ID: ENSG00000183798; HGNC ID: 16123
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
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult13 / 19391216
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal25 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
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 
bone1 / 7165513
bone marrow0 / 488010 
brain6 / 11009895
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye4 / 21105418
heart15 / 89626167
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
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_5016_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
Amygdala2.93 ± 0.98
Basal Forebrain2.27 ± 0.42
Basal Part of Pons2.43 ± 0.73
Cerebellar Cortex2.4 ± 0.73
Cerebellar Nuclei2.71 ± 0.63
Claustrum2.99 ± 0.86
Epithalamus2.18 ± 0.65
Frontal Lobe2.25 ± 0.69
Globus Pallidus3 ± 0.37
Hypothalamus2.53 ± 0.83
Insula2.22 ± 0.57
Limbic Lobe2.46 ± 0.76
Mesencephalon2.69 ± 0.74
Myelencephalon2.49 ± 0.69
Occipital Lobe2.83 ± 0.73
Parietal Lobe2.58 ± 0.69
Pontine Tegmentum2.43 ± 0.65
Striatum2.52 ± 0.66
Subthalamus2.49 ± 0.49
Temporal Lobe2.47 ± 0.75
Thalamus2.47 ± 0.62
White Matter2.45 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Emilin3CBCerebellum3.22
3.93
Emilin3CTXCerebral cortex5.31
4.02
Emilin3HIPHippocampal region3.83
3.41
Emilin3HPFHippocampal formation5.49
4.43
Emilin3HYHypothalamus1.82
1.25
Emilin3LSXLateral septal complex0.76
0.42
Emilin3MBMidbrain3
2.94
Emilin3MYMedulla8.6
9.21
Emilin3OLFOlfactory bulb8.47
5.51
Emilin3PPons7.28
6.86
Emilin3PALPallidum3.25
2.55
Emilin3RHPRetrohippocampal region9.85
6.92
Emilin3sAMYStriatum-like amygdalar nuclei2.62
1.92
Emilin3STRStriatum1.35
0.97
Emilin3STRdStriatum dorsal region1.04
0.87
Emilin3STRvStriatum ventral region2.16
1.15
Emilin3THThalamus3.21
2.35
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EMIL3_HUMAN_21 10 21 30 QARGTPLLAR PRIDE

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