AutismKB 2.0

Annotation Detail for COL1A2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:COL1A2 ( OI4 )
Gene Full Name: collagen, type I, alpha 2
Band: 7q21.3
Quick LinksEntrez ID:1278; OMIM: 120160; Uniprot ID:CO1A2_HUMAN; ENSEMBL ID: ENSG00000164692; HGNC ID: 2198
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 body384 / 707615426
blastocyst70 / 623191123
fetus508 / 564012900
neonate3 / 3109796
infant0 / 236200 
juvenile15 / 55556269
adult834 / 1939121430
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma17 / 17475972
breast (mammary gland) tumor27 / 94178286
cervical tumor0 / 343660 
chondrosarcoma248 / 828232994
colorectal tumor33 / 114246288
esophageal tumor4 / 17290231
gastrointestinal tumor43 / 119369360
germ cell tumor13 / 26384549
glioma13 / 106883121
head and neck tumor45 / 136302330
kidney tumor19 / 68959275
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor19 / 103127184
lymphoma3 / 7175541
non-neoplasia57 / 97250586
normal1697 / 3360307505
ovarian tumor19 / 76682247
pancreatic tumor152 / 1046161452
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor82 / 125191654
uterine tumor45 / 90257498
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue16 / 131061220
adrenal gland2 / 3319760
ascites0 / 400150 
bladder8 / 29757268
blood3 / 12347824
bone254 / 716553544
bone marrow98 / 488012008
brain70 / 110098963
cervix0 / 481710 
connective tissue168 / 1492551125
ear191 / 1621211781
embryonic tissue501 / 2157222322
esophagus4 / 20209197
eye213 / 2110541009
heart39 / 89626435
intestine66 / 234472281
kidney34 / 211777160
larynx13 / 24145538
liver5 / 20774324
lung125 / 336974370
lymph0 / 442700 
lymph node1 / 9161010
mammary gland44 / 153271287
mouth15 / 67052223
muscle23 / 107715213
nerve25 / 157681585
ovary20 / 102051195
pancreas164 / 214812763
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta56 / 280825199
prostate16 / 18934584
salivary gland0 / 201550 
skin118 / 210574560
spleen5 / 5395292
stomach44 / 96619455
testis51 / 330442154
thymus0 / 811310 
thyroid20 / 47473421
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord3 / 13680219
uterus79 / 232878339
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202403_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.8
Adipocyte12456.05
AdrenalCortex148.15
Adrenalgland406.05
Amygdala26.1
Appendix987.7
AtrioventricularNode395.35
BDCA4+_DentriticCells6.25
Bonemarrow121.15
BronchialEpithelialCells7.55
CD105+_Endothelial135.8
CD14+_Monocytes5.95
CD19+_BCells(neg._sel.)11.7
CD33+_Myeloid8.95
CD34+8.9
CD4+_Tcells10.4
CD56+_NKCells9.75
CD71+_EarlyErythroid15.95
CD8+_Tcells10.05
CardiacMyocytes12033.65
Caudatenucleus23.85
Cerebellum20.8
CerebellumPeduncles21.4
CiliaryGanglion856.4
CingulateCortex25.55
Colorectaladenocarcinoma27.5
DorsalRootGanglion642.35
FetalThyroid5930.15
Fetalbrain62.6
Fetalliver528.75
Fetallung4481.15
GlobusPallidus23.95
Heart591.55
Hypothalamus82.1
Kidney100.2
Leukemia_chronicMyelogenousK-56225.85
Leukemia_promyelocytic-HL-6017.2
Leukemialymphoblastic(MOLT-4)13
Liver170.9
Lung2003.45
Lymphnode512.15
Lymphoma_burkitts(Daudi)19.15
Lymphoma_burkitts(Raji)44.35
MedullaOblongata20.6
OccipitalLobe63.3
OlfactoryBulb1013.55
Ovary305.45
Pancreas442.6
PancreaticIslet349.3
ParietalLobe29.15
Pituitary347.25
Placenta2959.15
Pons78.6
PrefrontalCortex73.2
Prostate1487.55
Salivarygland181.2
SkeletalMuscle123.3
Skin711.8
SmoothMuscle18019.3
Spinalcord262.75
SubthalamicNucleus11.6
SuperiorCervicalGanglion802
TemporalLobe25.75
Testis861.15
TestisGermCell3193.1
TestisIntersitial1184.9
TestisLeydigCell791.75
TestisSeminiferousTubule610.65
Thalamus34.8
Thymus553.8
Thyroid993.9
Tongue731.65
Tonsil461.3
Trachea731.9
TrigeminalGanglion642.9
Uterus5589.65
UterusCorpus3695.2
WholeBlood20.35
Wholebrain37.55
colon1165.3
pineal_day204.78
pineal_night380
retina723.075
small_intestine1334.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P265274
  • 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
Amygdala3.61 ± 0.76
Basal Forebrain3.38 ± 0.77
Basal Part of Pons3.19 ± 0.65
Cerebellar Cortex3.27 ± 0.83
Cerebellar Nuclei5 ± 0.51
Claustrum3.59 ± 0.69
Epithalamus4.42 ± 0.51
Frontal Lobe3.56 ± 0.89
Globus Pallidus5.23 ± 0.49
Hypothalamus3.22 ± 0.86
Insula3.5 ± 0.87
Limbic Lobe3.5 ± 0.84
Mesencephalon3.83 ± 0.81
Myelencephalon3.82 ± 0.78
Occipital Lobe3.65 ± 0.92
Parietal Lobe3.64 ± 0.85
Pontine Tegmentum3.84 ± 0.87
Striatum4.66 ± 0.58
Subthalamus3.65 ± 0.2
Temporal Lobe3.56 ± 0.86
Thalamus3.84 ± 0.75
White Matter4.16 ± 1.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col1a2CBCerebellum27.31
48.07
Col1a2CTXCerebral cortex30.19
18.34
Col1a2HIPHippocampal region17.18
26.35
Col1a2HPFHippocampal formation21.05
29.14
Col1a2HYHypothalamus9.49
5.89
Col1a2LSXLateral septal complex12.5
18.24
Col1a2MBMidbrain14.61
16.33
Col1a2MYMedulla18.85
18.69
Col1a2OLFOlfactory bulb15.36
13.97
Col1a2PPons17.01
21.06
Col1a2PALPallidum10
8.84
Col1a2RHPRetrohippocampal region27.44
32.84
Col1a2sAMYStriatum-like amygdalar nuclei22.91
17.73
Col1a2STRStriatum8.59
7.27
Col1a2STRdStriatum dorsal region5.98
4.37
Col1a2STRvStriatum ventral region8.93
6.4
Col1a2THThalamus12.84
12.62
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CO1A2_HUMAN_1054 11 1054 1064 GPAGPSGPAGK PRIDE
CO1A2_HUMAN_1206 9 1206 1214 AQPENIPAK PRIDE
CO1A2_HUMAN_1274 14 1274 1287 NSIAYMDEETGNLK PRIDE
CO1A2_HUMAN_1289 19 1289 1307 AVILQGSNDVELVAEGNSR PRIDE
CO1A2_HUMAN_1308 12 1308 1319 FTYTVLVDGCSK PRIDE
CO1A2_HUMAN_166 12 166 177 GFPGTPGLPGFK PRIDE
CO1A2_HUMAN_225 10 225 234 VGAPGPAGAR PRIDE
CO1A2_HUMAN_265 18 265 282 GEIGAVGNAGPAGPAGPR PRIDE
CO1A2_HUMAN_310 18 310 327 GAAGLPGVAGAPGLPGPR PRIDE
CO1A2_HUMAN_343 12 343 354 GLVGEPGPAGSK PRIDE
CO1A2_HUMAN_361 20 361 380 GEPGSAGPQGPPGPSGEEGK PRIDE
CO1A2_HUMAN_382 18 382 399 GPNGEAGSAGPPGPPGLR PRIDE
CO1A2_HUMAN_414 10 414 423 AGVMGPPGSR PRIDE
CO1A2_HUMAN_433 18 433 450 GPNGDAGRPGEPGLMGPR PRIDE
CO1A2_HUMAN_451 14 451 464 GLPGSPGNIGPAGK PRIDE
CO1A2_HUMAN_520 24 520 543 GAPGPDGNNGAQGPPGPQGVQGGK PRIDE
CO1A2_HUMAN_676 18 676 693 GAPGAVGAPGPAGATGDR PRIDE
CO1A2_HUMAN_694 15 694 708 GEAGAAGPAGPAGPR PRIDE
CO1A2_HUMAN_979 18 979 996 GETGPSGPVGPAGAVGPR PRIDE
PAp00028647 13 1193 1205 VYCDFSTGETCIR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved