AutismKB 2.0

Annotation Detail for COL2A1


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Basic Information Top
Gene Symbol:COL2A1 ( ANFH,AOM,COL11A3,MGC131516,SEDC )
Gene Full Name: collagen, type II, alpha 1
Band: 12q13.11
Quick LinksEntrez ID:1280; OMIM: 120140; Uniprot ID:CO2A1_HUMAN; ENSEMBL ID: ENSG00000139219; HGNC ID: 2200
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 body24 / 70761339
blastocyst7 / 62319112
fetus130 / 564012230
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult221 / 1939121113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma73 / 82823881
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor11 / 26384541
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor5 / 6895972
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia113 / 972501161
normal236 / 336030770
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone55 / 71655767
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue140 / 149255937
ear88 / 162125428
embryonic tissue79 / 215722366
esophagus0 / 202090 
eye6 / 21105428
heart2 / 8962622
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver6 / 20774328
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland9 / 15327158
mouth0 / 670520 
muscle12 / 107715111
nerve0 / 157680 
ovary7 / 10205168
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta7 / 28082524
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213492_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.5
Adipocyte4.5
AdrenalCortex5.05
Adrenalgland3.9
Amygdala4.75
Appendix4.95
AtrioventricularNode3.75
BDCA4+_DentriticCells4.8
Bonemarrow4.6
BronchialEpithelialCells4.45
CD105+_Endothelial4.65
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid5.75
CD34+5.7
CD4+_Tcells4.9
CD56+_NKCells5.4
CD71+_EarlyErythroid4.3
CD8+_Tcells4.3
CardiacMyocytes6.25
Caudatenucleus4.1
Cerebellum3.75
CerebellumPeduncles5.3
CiliaryGanglion4.55
CingulateCortex4.7
Colorectaladenocarcinoma4.65
DorsalRootGanglion4.4
FetalThyroid4.45
Fetalbrain4.65
Fetalliver379.9
Fetallung13.25
GlobusPallidus3.4
Heart6.05
Hypothalamus4.9
Kidney3.8
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.7
Liver6.2
Lung4.95
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.9
Lymphoma_burkitts(Raji)6.6
MedullaOblongata4.1
OccipitalLobe4.1
OlfactoryBulb3.65
Ovary3.55
Pancreas3.7
PancreaticIslet4.9
ParietalLobe4.95
Pituitary5.35
Placenta4.7
Pons4.4
PrefrontalCortex5.65
Prostate5.35
Salivarygland3.7
SkeletalMuscle5.6
Skin3.7
SmoothMuscle5.2
Spinalcord4.9
SubthalamicNucleus4.2
SuperiorCervicalGanglion5.45
TemporalLobe4.2
Testis3.95
TestisGermCell3.9
TestisIntersitial3.85
TestisLeydigCell6.15
TestisSeminiferousTubule3.9
Thalamus4.65
Thymus3.6
Thyroid5.65
Tongue4.6
Tonsil4.45
Trachea227.05
TrigeminalGanglion4.85
Uterus3.7
UterusCorpus4.25
WholeBlood4.9
Wholebrain3.75
colon4.6
pineal_day5.66
pineal_night5.54
retina6.175
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15505_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
Amygdala2.39 ± 0.88
Basal Forebrain1.95 ± 0.17
Basal Part of Pons1.72 ± 0.35
Cerebellar Cortex1.89 ± 0.72
Cerebellar Nuclei2.36 ± 0.71
Claustrum3.06 ± 0.91
Epithalamus1.92 ± 0.76
Frontal Lobe1.95 ± 0.69
Globus Pallidus2.66 ± 0.28
Hypothalamus2.06 ± 0.66
Insula2.34 ± 1.16
Limbic Lobe2.23 ± 0.74
Mesencephalon2.27 ± 0.7
Myelencephalon2.1 ± 0.66
Occipital Lobe2.3 ± 0.98
Parietal Lobe2.11 ± 0.66
Pontine Tegmentum2.2 ± 0.74
Striatum2.37 ± 0.7
Subthalamus2.28 ± 0.67
Temporal Lobe1.98 ± 0.61
Thalamus2.01 ± 0.58
White Matter2.63 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col2a1CBCerebellum21.21
31.88
Col2a1CTXCerebral cortex21.35
18.2
Col2a1HIPHippocampal region18.46
24.32
Col2a1HPFHippocampal formation20.98
24.29
Col2a1HYHypothalamus31.03
28.65
Col2a1LSXLateral septal complex5.81
4.14
Col2a1MBMidbrain8.56
8.46
Col2a1MYMedulla22.26
28.69
Col2a1OLFOlfactory bulb44.89
42.4
Col2a1PPons17.65
23.63
Col2a1PALPallidum24.22
23.9
Col2a1RHPRetrohippocampal region26.85
24.95
Col2a1sAMYStriatum-like amygdalar nuclei8.8
6.95
Col2a1STRStriatum14.64
12.01
Col2a1STRdStriatum dorsal region9.71
7.84
Col2a1STRvStriatum ventral region39.2
31.03
Col2a1THThalamus32.84
34.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CO2A1_HUMAN_639 12 639 650 GSPGAQGLQGPR PRIDE
CO2A1_HUMAN_912 9 912 920 GIVGLPGQR 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


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