AutismKB 2.0

Annotation Detail for COL6A1


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Basic Information Top
Gene Symbol:COL6A1 ( OPLL )
Gene Full Name: collagen, type VI, alpha 1
Band: 21q22.3
Quick LinksEntrez ID:1291; OMIM: 120220; Uniprot ID:CO6A1_HUMAN; ENSEMBL ID: ENSG00000142156; HGNC ID: 2211
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 body45 / 70761635
blastocyst36 / 62319577
fetus129 / 564012228
neonate11 / 31097353
infant1 / 2362042
juvenile11 / 55556197
adult332 / 1939121171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma3 / 17475171
breast (mammary gland) tumor21 / 94178222
cervical tumor0 / 343660 
chondrosarcoma62 / 82823748
colorectal tumor11 / 11424696
esophageal tumor4 / 17290231
gastrointestinal tumor8 / 11936967
germ cell tumor17 / 26384564
glioma29 / 106883271
head and neck tumor10 / 13630273
kidney tumor21 / 68959304
leukemia4 / 9584241
liver tumor7 / 9635972
lung tumor16 / 103127155
lymphoma0 / 717550 
non-neoplasia15 / 97250154
normal566 / 3360307168
ovarian tumor18 / 76682234
pancreatic tumor27 / 104616258
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer22 / 102680214
retinoblastoma2 / 4635643
skin tumor8 / 12494964
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor24 / 90257265
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland7 / 33197210
ascites2 / 4001549
bladder3 / 29757100
blood4 / 12347832
bone69 / 71655962
bone marrow13 / 48801266
brain59 / 110098953
cervix1 / 4817120
connective tissue42 / 149255281
ear5 / 16212308
embryonic tissue94 / 215722435
esophagus5 / 20209247
eye37 / 211054175
heart54 / 89626602
intestine43 / 234472183
kidney27 / 211777127
larynx2 / 2414582
liver8 / 20774338
lung95 / 336974281
lymph0 / 442700 
lymph node0 / 916100 
mammary gland39 / 153271254
mouth5 / 6705274
muscle8 / 10771574
nerve14 / 15768887
ovary27 / 102051264
pancreas35 / 214812162
parathyroid4 / 20539194
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta47 / 280825167
prostate26 / 189345137
salivary gland5 / 20155248
skin52 / 210574246
spleen2 / 5395237
stomach10 / 96619103
testis9 / 33044227
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord8 / 13680584
uterus48 / 232878206
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212937_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.2
Adipocyte265.4
AdrenalCortex17.8
Adrenalgland12.5
Amygdala14
Appendix15.9
AtrioventricularNode15.45
BDCA4+_DentriticCells9.65
Bonemarrow14.75
BronchialEpithelialCells13
CD105+_Endothelial13.5
CD14+_Monocytes15.2
CD19+_BCells(neg._sel.)14.3
CD33+_Myeloid17.65
CD34+12.6
CD4+_Tcells14.2
CD56+_NKCells12.7
CD71+_EarlyErythroid13.3
CD8+_Tcells11.05
CardiacMyocytes52.9
Caudatenucleus13.3
Cerebellum11.95
CerebellumPeduncles21.55
CiliaryGanglion11.6
CingulateCortex17.95
Colorectaladenocarcinoma14.95
DorsalRootGanglion11.4
FetalThyroid13.7
Fetalbrain14.4
Fetalliver12.8
Fetallung15.05
GlobusPallidus11.55
Heart24.05
Hypothalamus15.4
Kidney12.95
Leukemia_chronicMyelogenousK-56213.1
Leukemia_promyelocytic-HL-6012.5
Leukemialymphoblastic(MOLT-4)10.75
Liver19.7
Lung22.95
Lymphnode11.8
Lymphoma_burkitts(Daudi)18.9
Lymphoma_burkitts(Raji)21.7
MedullaOblongata13.65
OccipitalLobe12.5
OlfactoryBulb11.7
Ovary16.75
Pancreas11.55
PancreaticIslet15.85
ParietalLobe17.3
Pituitary17.45
Placenta37.65
Pons18
PrefrontalCortex17.85
Prostate18
Salivarygland12.05
SkeletalMuscle23.35
Skin12.65
SmoothMuscle373.05
Spinalcord15.9
SubthalamicNucleus13.45
SuperiorCervicalGanglion17.8
TemporalLobe16.6
Testis11.95
TestisGermCell10.6
TestisIntersitial12.4
TestisLeydigCell15.5
TestisSeminiferousTubule12.65
Thalamus15.05
Thymus11.35
Thyroid19.25
Tongue17.9
Tonsil17.7
Trachea12.45
TrigeminalGanglion15.85
Uterus30.2
UterusCorpus16.25
WholeBlood13.25
Wholebrain11.85
colon18
pineal_day16.62
pineal_night16.38
retina17.275
small_intestine14.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P331918
  • 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
Amygdala6.84 ± 0.71
Basal Forebrain6.96 ± 0.34
Basal Part of Pons7.1 ± 0.42
Cerebellar Cortex7.08 ± 0.32
Cerebellar Nuclei7.13 ± 0.33
Claustrum7.09 ± 0.54
Epithalamus6.95 ± 0.58
Frontal Lobe6.27 ± 0.56
Globus Pallidus6.75 ± 0.46
Hypothalamus6.6 ± 0.32
Insula6.18 ± 0.62
Limbic Lobe6.3 ± 0.78
Mesencephalon6.58 ± 0.61
Myelencephalon6.6 ± 0.55
Occipital Lobe6.79 ± 0.49
Parietal Lobe6.69 ± 0.58
Pontine Tegmentum6.28 ± 0.55
Striatum5.76 ± 0.33
Subthalamus6.61 ± 0.34
Temporal Lobe6.42 ± 0.55
Thalamus6.4 ± 0.42
White Matter5.87 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col6a1CBCerebellum22.54
30.47
Col6a1CTXCerebral cortex81.2
84.63
Col6a1HIPHippocampal region24.04
31.93
Col6a1HPFHippocampal formation31.33
39.31
Col6a1HYHypothalamus20.58
17.71
Col6a1LSXLateral septal complex48.3
51.61
Col6a1MBMidbrain18.02
19.91
Col6a1MYMedulla26.65
26.73
Col6a1OLFOlfactory bulb100
100
Col6a1PPons33.73
32.66
Col6a1PALPallidum36.3
46.75
Col6a1RHPRetrohippocampal region40.27
45.52
Col6a1sAMYStriatum-like amygdalar nuclei76.82
93.8
Col6a1STRStriatum100
100
Col6a1STRdStriatum dorsal region91.98
86.26
Col6a1STRvStriatum ventral region100
100
Col6a1THThalamus4.41
4.19
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CO6A1_HUMAN_1006 9 1006 1014 VPSYQALLR PRIDE
CO6A1_HUMAN_1015 9 1015 1023 GVFHQTVSR PRIDE
CO6A1_HUMAN_136 13 136 148 GLEQLLVGGSHLK PRIDE
CO6A1_HUMAN_185 14 185 198 VFSVAITPDHLEPR PRIDE
CO6A1_HUMAN_186 14 186 199 VFSVAITPDHLEPR PRIDE
CO6A1_HUMAN_199 12 199 210 LSIIATDHTYRR PRIDE
CO6A1_HUMAN_200 11 200 210 LSIIATDHTYR PRIDE
CO6A1_HUMAN_222 18 222 239 DAEEAISQTIDTIVDMIK PRIDE
CO6A1_HUMAN_241 16 241 256 NNVEQVCCSFECQPAR PRIDE
CO6A1_HUMAN_712 11 712 722 DQLLPPSPNNR PRIDE
CO6A1_HUMAN_722 9 722 730 IALVITDGR PRIDE
CO6A1_HUMAN_723 9 723 731 IALVITDGR PRIDE
CO6A1_HUMAN_791 13 791 803 ENYAELLEDAFLK PRIDE
CO6A1_HUMAN_872 16 872 887 VAVVQYSGTGQQRPER PRIDE
CO6A1_HUMAN_873 16 873 888 VAVVQYSGTGQQRPER PRIDE
CO6A1_HUMAN_939 19 939 957 LLLFSDGNSQGATPAAIEK PRIDE
PAp00008980 29 152 180 YLIVVTDGHPLEGYKEPCGGLEDAVNEAK 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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