AutismKB 2.0

Annotation Detail for EXTL3


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Basic Information Top
Gene Symbol:EXTL3 ( BOTV,DKFZp686C2342,EXTR1,KIAA0519,REG,REGR,RPR )
Gene Full Name: exostoses (multiple)-like 3
Band: 8p21.1
Quick LinksEntrez ID:2137; OMIM: 605744; Uniprot ID:EXTL3_HUMAN; ENSEMBL ID: ENSG00000012232; HGNC ID: 3518
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 body7 / 7076198
blastocyst8 / 62319128
fetus39 / 56401269
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult117 / 193912160
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor21 / 119369175
germ cell tumor37 / 263845140
glioma10 / 10688393
head and neck tumor8 / 13630258
kidney tumor5 / 6895972
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal194 / 336030757
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor6 / 12494948
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites10 / 40015249
bladder2 / 2975767
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain84 / 110098976
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus0 / 202090 
eye24 / 211054113
heart3 / 8962633
intestine12 / 23447251
kidney6 / 21177728
larynx2 / 2414582
liver1 / 2077434
lung15 / 33697444
lymph0 / 442700 
lymph node1 / 9161010
mammary gland7 / 15327145
mouth4 / 6705259
muscle12 / 107715111
nerve1 / 1576863
ovary8 / 10205178
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate8 / 18934542
salivary gland0 / 201550 
skin22 / 210574104
spleen0 / 539520 
stomach7 / 9661972
testis30 / 33044290
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209202_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.1
Adipocyte4.75
AdrenalCortex5.7
Adrenalgland4.15
Amygdala4.95
Appendix4.85
AtrioventricularNode3.6
BDCA4+_DentriticCells5.2
Bonemarrow4.7
BronchialEpithelialCells4.7
CD105+_Endothelial4.55
CD14+_Monocytes5.5
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid6
CD34+6.25
CD4+_Tcells5.1
CD56+_NKCells8.75
CD71+_EarlyErythroid4.65
CD8+_Tcells4.55
CardiacMyocytes5.8
Caudatenucleus7
Cerebellum3.9
CerebellumPeduncles5.55
CiliaryGanglion3.4
CingulateCortex9.4
Colorectaladenocarcinoma4.75
DorsalRootGanglion3.7
FetalThyroid5
Fetalbrain6.15
Fetalliver4.1
Fetallung3.9
GlobusPallidus5.4
Heart6.3
Hypothalamus5.25
Kidney3.95
Leukemia_chronicMyelogenousK-5624.3
Leukemia_promyelocytic-HL-605.55
Leukemialymphoblastic(MOLT-4)3.85
Liver6.25
Lung5.2
Lymphnode4.05
Lymphoma_burkitts(Daudi)6.3
Lymphoma_burkitts(Raji)6.65
MedullaOblongata8.25
OccipitalLobe4.35
OlfactoryBulb3.8
Ovary2.95
Pancreas3.8
PancreaticIslet5.1
ParietalLobe5
Pituitary5.6
Placenta5.3
Pons10.25
PrefrontalCortex6.15
Prostate5.6
Salivarygland3.8
SkeletalMuscle5.35
Skin3.7
SmoothMuscle5.8
Spinalcord6.15
SubthalamicNucleus13.55
SuperiorCervicalGanglion5.45
TemporalLobe7.3
Testis4.1
TestisGermCell3.9
TestisIntersitial3.95
TestisLeydigCell4.7
TestisSeminiferousTubule4.9
Thalamus14.95
Thymus3.75
Thyroid5.95
Tongue4.65
Tonsil4.15
Trachea4
TrigeminalGanglion4.85
Uterus3.9
UterusCorpus4.25
WholeBlood5.6
Wholebrain4.05
colon4.75
pineal_day7
pineal_night5.72
retina6.45
small_intestine4.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16605_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
Amygdala4.12 ± 0.66
Basal Forebrain3.79 ± 0.18
Basal Part of Pons3.88 ± 0.63
Cerebellar Cortex4.17 ± 0.44
Cerebellar Nuclei3.72 ± 0.42
Claustrum3.43 ± 0.79
Epithalamus3.8 ± 0.72
Frontal Lobe4.12 ± 0.54
Globus Pallidus3.29 ± 0.64
Hypothalamus3.7 ± 0.52
Insula4.11 ± 0.41
Limbic Lobe4.12 ± 0.54
Mesencephalon4.08 ± 0.56
Myelencephalon4.03 ± 0.53
Occipital Lobe3.99 ± 0.45
Parietal Lobe4.01 ± 0.59
Pontine Tegmentum4.07 ± 0.53
Striatum3.74 ± 0.52
Subthalamus3.83 ± 0.63
Temporal Lobe4.22 ± 0.51
Thalamus4.11 ± 0.46
White Matter3.31 ± 0.63
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Extl3CBCerebellum3.32
3.44
Extl3CTXCerebral cortex6.39
4.24
Extl3HIPHippocampal region7.92
3.46
Extl3HPFHippocampal formation7.67
3.9
Extl3HYHypothalamus0.69
0.68
Extl3LSXLateral septal complex0.11
0.1
Extl3MBMidbrain0.79
0.71
Extl3MYMedulla1.41
1.12
Extl3OLFOlfactory bulb10.03
5.53
Extl3PPons0.81
0.76
Extl3PALPallidum0.37
0.24
Extl3RHPRetrohippocampal region7.04
4.9
Extl3sAMYStriatum-like amygdalar nuclei1.15
0.83
Extl3STRStriatum0.42
0.28
Extl3STRdStriatum dorsal region0.21
0.16
Extl3STRvStriatum ventral region0.95
0.41
Extl3THThalamus13.44
13.29
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EXTL3_HUMAN_673 10 673 682 EEVLMNSLER 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