AutismKB 2.0

Annotation Detail for EXTL2


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Basic Information Top
Gene Symbol:EXTL2 ( EXTR2 )
Gene Full Name: exostoses (multiple)-like 2
Band: 1p21.2
Quick LinksEntrez ID:2135; OMIM: 602411; Uniprot ID:EXTL2_HUMAN; ENSEMBL ID: ENSG00000162694; HGNC ID: 3516
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
blastocyst6 / 6231996
fetus53 / 56401293
neonate2 / 3109764
infant2 / 2362084
juvenile4 / 5555671
adult86 / 193912144
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor35 / 263845132
glioma4 / 10688337
head and neck tumor2 / 13630214
kidney tumor7 / 68959101
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal167 / 336030749
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer9 / 10268087
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor5 / 9025755
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 
bone8 / 71655111
bone marrow1 / 4880120
brain81 / 110098973
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus1 / 2020949
eye15 / 21105471
heart3 / 8962633
intestine2 / 2344728
kidney9 / 21177742
larynx0 / 241450 
liver3 / 20774314
lung11 / 33697432
lymph0 / 442700 
lymph node1 / 9161010
mammary gland6 / 15327139
mouth2 / 6705229
muscle8 / 10771574
nerve0 / 157680 
ovary1 / 1020519
pancreas6 / 21481227
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta14 / 28082549
prostate11 / 18934558
salivary gland0 / 201550 
skin6 / 21057428
spleen2 / 5395237
stomach2 / 9661920
testis33 / 33044299
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus13 / 23287855
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209537_at
Cell line Expression level Expression bar
721_B_lymphoblasts49
Adipocyte4.85
AdrenalCortex4.9
Adrenalgland8.8
Amygdala6.1
Appendix4.85
AtrioventricularNode3.6
BDCA4+_DentriticCells11.35
Bonemarrow4.5
BronchialEpithelialCells4.75
CD105+_Endothelial32.8
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)5.3
CD33+_Myeloid10.4
CD34+152.1
CD4+_Tcells4.85
CD56+_NKCells20.25
CD71+_EarlyErythroid4.2
CD8+_Tcells4.85
CardiacMyocytes8
Caudatenucleus31
Cerebellum4.7
CerebellumPeduncles7.75
CiliaryGanglion3.3
CingulateCortex22.15
Colorectaladenocarcinoma4.8
DorsalRootGanglion3.65
FetalThyroid4.8
Fetalbrain17.05
Fetalliver4.1
Fetallung5.45
GlobusPallidus5.9
Heart5.95
Hypothalamus57.7
Kidney3.7
Leukemia_chronicMyelogenousK-56210.55
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)5.05
Liver6.05
Lung5
Lymphnode4.15
Lymphoma_burkitts(Daudi)6.25
Lymphoma_burkitts(Raji)6.6
MedullaOblongata20.1
OccipitalLobe12.65
OlfactoryBulb4.45
Ovary3.15
Pancreas3.9
PancreaticIslet5.25
ParietalLobe13.1
Pituitary11.25
Placenta5.05
Pons4.6
PrefrontalCortex42.25
Prostate5.4
Salivarygland3.9
SkeletalMuscle5.4
Skin3.6
SmoothMuscle15.45
Spinalcord24.1
SubthalamicNucleus17
SuperiorCervicalGanglion5.4
TemporalLobe7.1
Testis4
TestisGermCell9.7
TestisIntersitial4.1
TestisLeydigCell4.8
TestisSeminiferousTubule4.2
Thalamus95
Thymus3.7
Thyroid6.25
Tongue4.55
Tonsil4.75
Trachea3.85
TrigeminalGanglion4.9
Uterus7.85
UterusCorpus4.3
WholeBlood5
Wholebrain11.65
colon4.85
pineal_day83.64
pineal_night69.02
retina6.025
small_intestine4.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16629_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
Amygdala6.41 ± 0.56
Basal Forebrain6.7 ± 0.27
Basal Part of Pons7.11 ± 0.35
Cerebellar Cortex6.77 ± 0.33
Cerebellar Nuclei7.21 ± 0.45
Claustrum6.62 ± 0.66
Epithalamus7.37 ± 0.29
Frontal Lobe7.21 ± 0.47
Globus Pallidus6.46 ± 0.51
Hypothalamus7.2 ± 0.23
Insula6.91 ± 0.34
Limbic Lobe6.43 ± 0.53
Mesencephalon7.02 ± 0.43
Myelencephalon6.92 ± 0.56
Occipital Lobe6.85 ± 0.48
Parietal Lobe7.19 ± 0.63
Pontine Tegmentum7.04 ± 0.49
Striatum6.88 ± 0.48
Subthalamus7.53 ± 0.37
Temporal Lobe6.97 ± 0.41
Thalamus7.26 ± 0.5
White Matter6.2 ± 0.64
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Extl2CBCerebellum87.95
100
Extl2CTXCerebral cortex100
100
Extl2HIPHippocampal region89.03
100
Extl2HPFHippocampal formation94.84
100
Extl2HYHypothalamus82.81
81.97
Extl2LSXLateral septal complex63.6
52.82
Extl2MBMidbrain87.62
100
Extl2MYMedulla93.56
100
Extl2OLFOlfactory bulb90.01
95.8
Extl2PPons74.04
100
Extl2PALPallidum73.81
88.27
Extl2RHPRetrohippocampal region100
100
Extl2sAMYStriatum-like amygdalar nuclei100
100
Extl2STRStriatum100
98.64
Extl2STRdStriatum dorsal region100
100
Extl2STRvStriatum ventral region100
100
Extl2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00094716 11 95 105 VIVVWNNIGEK 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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