AutismKB 2.0

Annotation Detail for COL11A1


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Basic Information Top
Gene Symbol:COL11A1 ( CO11A1,COLL6,STL2 )
Gene Full Name: collagen, type XI, alpha 1
Band: 1p21.1
Quick LinksEntrez ID:1301; OMIM: 120280; Uniprot ID:COBA1_HUMAN; ENSEMBL ID: ENSG00000060718; HGNC ID: 2186
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
blastocyst0 / 623190 
fetus54 / 56401295
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult83 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma41 / 82823495
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor8 / 13630258
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal120 / 336030735
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites2 / 4001549
bladder0 / 297570 
blood0 / 1234780 
bone43 / 71655600
bone marrow1 / 4880120
brain2 / 11009891
cervix0 / 481710 
connective tissue16 / 149255107
ear32 / 162121973
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine9 / 23447238
kidney0 / 2117770 
larynx2 / 2414582
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland10 / 15327165
mouth6 / 6705289
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate0 / 1893450 
salivary gland0 / 201550 
skin24 / 210574113
spleen0 / 539520 
stomach6 / 9661962
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204320_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.65
Adipocyte10.05
AdrenalCortex3.85
Adrenalgland3.1
Amygdala3.9
Appendix3.65
AtrioventricularNode2.95
BDCA4+_DentriticCells4.1
Bonemarrow3.6
BronchialEpithelialCells3.65
CD105+_Endothelial3.7
CD14+_Monocytes3.9
CD19+_BCells(neg._sel.)3.95
CD33+_Myeloid4.7
CD34+4.65
CD4+_Tcells4.05
CD56+_NKCells4.4
CD71+_EarlyErythroid3.4
CD8+_Tcells3.55
CardiacMyocytes4.65
Caudatenucleus3.3
Cerebellum2.95
CerebellumPeduncles4.15
CiliaryGanglion2.7
CingulateCortex3.75
Colorectaladenocarcinoma3.65
DorsalRootGanglion2.9
FetalThyroid3.55
Fetalbrain4.4
Fetalliver3.15
Fetallung3.05
GlobusPallidus2.7
Heart4.65
Hypothalamus4.05
Kidney2.95
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)2.9
Liver4.8
Lung4.05
Lymphnode3.15
Lymphoma_burkitts(Daudi)4.7
Lymphoma_burkitts(Raji)5.1
MedullaOblongata3.35
OccipitalLobe3.55
OlfactoryBulb2.95
Ovary2.45
Pancreas2.95
PancreaticIslet3.9
ParietalLobe3.9
Pituitary4.35
Placenta3.8
Pons3.5
PrefrontalCortex5
Prostate4.25
Salivarygland2.9
SkeletalMuscle4.35
Skin2.8
SmoothMuscle4.15
Spinalcord3.95
SubthalamicNucleus3.35
SuperiorCervicalGanglion4.3
TemporalLobe3.4
Testis3.15
TestisGermCell3.25
TestisIntersitial3.1
TestisLeydigCell3.75
TestisSeminiferousTubule3.15
Thalamus3.7
Thymus2.9
Thyroid4.6
Tongue3.55
Tonsil3.6
Trachea3.1
TrigeminalGanglion3.8
Uterus3
UterusCorpus3.25
WholeBlood4.05
Wholebrain3.15
colon3.7
pineal_day4.62
pineal_night4.5
retina4.45
small_intestine3.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15091_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
Amygdala6.36 ± 0.45
Basal Forebrain6.75 ± 0.26
Basal Part of Pons5.07 ± 0.54
Cerebellar Cortex5.35 ± 0.56
Cerebellar Nuclei6.66 ± 0.3
Claustrum5.6 ± 0.93
Epithalamus5.46 ± 0.42
Frontal Lobe6.18 ± 0.55
Globus Pallidus6.89 ± 0.32
Hypothalamus5.8 ± 0.98
Insula5.93 ± 0.49
Limbic Lobe6.11 ± 0.84
Mesencephalon6.67 ± 0.6
Myelencephalon6.2 ± 0.72
Occipital Lobe6.19 ± 0.66
Parietal Lobe6.21 ± 0.75
Pontine Tegmentum6.27 ± 0.49
Striatum6.81 ± 0.53
Subthalamus4.91 ± 0.64
Temporal Lobe6.17 ± 0.51
Thalamus6.42 ± 0.57
White Matter6.02 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col11a1CBCerebellum16.74
18.05
Col11a1CTXCerebral cortex29.34
24.15
Col11a1HIPHippocampal region16.92
30.42
Col11a1HPFHippocampal formation15.58
21.11
Col11a1HYHypothalamus48.28
41.56
Col11a1LSXLateral septal complex10.24
7.44
Col11a1MBMidbrain57.16
54.69
Col11a1MYMedulla43.34
45.05
Col11a1OLFOlfactory bulb19.09
15.36
Col11a1PPons51.92
46.92
Col11a1PALPallidum48.21
44.66
Col11a1RHPRetrohippocampal region13.56
10.34
Col11a1sAMYStriatum-like amygdalar nuclei38.34
31.52
Col11a1STRStriatum21.11
18.18
Col11a1STRdStriatum dorsal region8.83
7.25
Col11a1STRvStriatum ventral region53.61
45.79
Col11a1THThalamus14.21
13.63
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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