AutismKB 2.0

Annotation Detail for EXTL1


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Basic Information Top
Gene Symbol:EXTL1 ( EXTL,MGC70794 )
Gene Full Name: exostoses (multiple)-like 1
Band: 1p36.11
Quick LinksEntrez ID:2134; OMIM: 601738; Uniprot ID:EXTL1_HUMAN; ENSEMBL ID: ENSG00000158008; HGNC ID: 3515
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 body1 / 7076114
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult16 / 19391218
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 tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal89 / 336030726
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor12 / 12494996
soft tissue/muscle tissue tumor3 / 12519123
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 
brain76 / 110098969
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth2 / 6705229
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206329_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.9
Adipocyte10.85
AdrenalCortex12
Adrenalgland9.25
Amygdala11.75
Appendix9.4
AtrioventricularNode9.45
BDCA4+_DentriticCells10.35
Bonemarrow11.5
BronchialEpithelialCells10.35
CD105+_Endothelial10.8
CD14+_Monocytes11.6
CD19+_BCells(neg._sel.)10.9
CD33+_Myeloid13.25
CD34+13.05
CD4+_Tcells12.05
CD56+_NKCells12.5
CD71+_EarlyErythroid10.15
CD8+_Tcells9.95
CardiacMyocytes13.4
Caudatenucleus10.1
Cerebellum8.8
CerebellumPeduncles13.9
CiliaryGanglion7.75
CingulateCortex16.75
Colorectaladenocarcinoma10.9
DorsalRootGanglion9.25
FetalThyroid10.65
Fetalbrain10.9
Fetalliver9.5
Fetallung8.9
GlobusPallidus11.5
Heart15.35
Hypothalamus12.05
Kidney9.15
Leukemia_chronicMyelogenousK-5629.9
Leukemia_promyelocytic-HL-609.25
Leukemialymphoblastic(MOLT-4)8.85
Liver15
Lung12.05
Lymphnode9.3
Lymphoma_burkitts(Daudi)13.9
Lymphoma_burkitts(Raji)15.5
MedullaOblongata10.15
OccipitalLobe10.2
OlfactoryBulb12.3
Ovary7.2
Pancreas8.9
PancreaticIslet10.1
ParietalLobe16.5
Pituitary12.8
Placenta11.1
Pons11
PrefrontalCortex13.8
Prostate12.9
Salivarygland8.65
SkeletalMuscle14.8
Skin8.2
SmoothMuscle12.3
Spinalcord13.8
SubthalamicNucleus18
SuperiorCervicalGanglion12.5
TemporalLobe11.4
Testis9.3
TestisGermCell8.9
TestisIntersitial9.25
TestisLeydigCell10.8
TestisSeminiferousTubule9.45
Thalamus18.7
Thymus8.1
Thyroid13.15
Tongue10.5
Tonsil10.5
Trachea10.15
TrigeminalGanglion13.3
Uterus8.5
UterusCorpus9.6
WholeBlood11.6
Wholebrain9.8
colon10.85
pineal_day20.06
pineal_night16.18
retina13.125
small_intestine10.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14552_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
Amygdala4.02 ± 0.64
Basal Forebrain3.37 ± 0.34
Basal Part of Pons3.61 ± 0.52
Cerebellar Cortex3.12 ± 0.56
Cerebellar Nuclei3.34 ± 0.45
Claustrum3.86 ± 0.72
Epithalamus3.34 ± 1.02
Frontal Lobe3.71 ± 0.64
Globus Pallidus3.23 ± 0.63
Hypothalamus2.94 ± 0.57
Insula3.66 ± 0.46
Limbic Lobe3.67 ± 0.55
Mesencephalon3.51 ± 0.65
Myelencephalon3.57 ± 0.67
Occipital Lobe3.16 ± 0.62
Parietal Lobe3.53 ± 0.6
Pontine Tegmentum3.45 ± 0.64
Striatum3.05 ± 0.81
Subthalamus3.67 ± 0.74
Temporal Lobe3.73 ± 0.5
Thalamus3.37 ± 0.59
White Matter3.27 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Extl1CBCerebellum6.38
7.15
Extl1CTXCerebral cortex89.38
76.16
Extl1HIPHippocampal region37.52
48.12
Extl1HPFHippocampal formation54.52
59.11
Extl1HYHypothalamus5.24
3.57
Extl1LSXLateral septal complex10.16
8.9
Extl1MBMidbrain6.78
5.71
Extl1MYMedulla7.87
7.53
Extl1OLFOlfactory bulb41.81
38.23
Extl1PPons6.59
6.45
Extl1PALPallidum6.49
5.07
Extl1RHPRetrohippocampal region88.19
79.4
Extl1sAMYStriatum-like amygdalar nuclei10.57
7.51
Extl1STRStriatum18.5
13.08
Extl1STRdStriatum dorsal region22.44
16.25
Extl1STRvStriatum ventral region9.06
5.08
Extl1THThalamus6.62
4.57
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


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