AutismKB 2.0

Annotation Detail for COL6A3


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Basic Information Top
Gene Symbol:COL6A3 ( DKFZp686D23123,DKFZp686K04147,DKFZp686N0262,FLJ34702,FLJ98399 )
Gene Full Name: collagen, type VI, alpha 3
Band: 2q37.3
Quick LinksEntrez ID:1293; OMIM: 120250; Uniprot ID:CO6A3_HUMAN; ENSEMBL ID: ENSG00000163359; HGNC ID: 2213
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 body63 / 70761890
blastocyst13 / 62319208
fetus58 / 564012102
neonate3 / 3109796
infant1 / 2362042
juvenile0 / 555560 
adult443 / 1939121228
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor14 / 94178148
cervical tumor0 / 343660 
chondrosarcoma89 / 828231074
colorectal tumor21 / 114246183
esophageal tumor6 / 17290347
gastrointestinal tumor25 / 119369209
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor25 / 136302183
kidney tumor18 / 68959261
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor20 / 103127193
lymphoma1 / 7175513
non-neoplasia16 / 97250164
normal451 / 3360307134
ovarian tumor6 / 7668278
pancreatic tumor28 / 104616267
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor50 / 125191399
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue10 / 13106763
adrenal gland0 / 331970 
ascites0 / 400150 
bladder6 / 29757201
blood0 / 1234780 
bone82 / 716551144
bone marrow13 / 48801266
brain11 / 11009899
cervix0 / 481710 
connective tissue80 / 149255535
ear2 / 16212123
embryonic tissue79 / 215722366
esophagus7 / 20209346
eye8 / 21105437
heart17 / 89626189
intestine42 / 234472179
kidney27 / 211777127
larynx3 / 24145124
liver5 / 20774324
lung46 / 336974136
lymph0 / 442700 
lymph node0 / 916100 
mammary gland32 / 153271208
mouth10 / 67052149
muscle53 / 107715492
nerve5 / 15768317
ovary8 / 10205178
pancreas39 / 214812181
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta54 / 280825192
prostate3 / 18934515
salivary gland0 / 201550 
skin12 / 21057456
spleen1 / 5395218
stomach26 / 96619269
testis7 / 33044221
thymus5 / 8113161
thyroid12 / 47473252
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus43 / 232878184
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201438_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.15
Adipocyte4496.2
AdrenalCortex9.05
Adrenalgland61.75
Amygdala5.6
Appendix441.75
AtrioventricularNode120.9
BDCA4+_DentriticCells5.45
Bonemarrow5.65
BronchialEpithelialCells5.2
CD105+_Endothelial5.85
CD14+_Monocytes6.2
CD19+_BCells(neg._sel.)6.2
CD33+_Myeloid7.1
CD34+7.1
CD4+_Tcells6.25
CD56+_NKCells6.25
CD71+_EarlyErythroid5
CD8+_Tcells5.65
CardiacMyocytes713.8
Caudatenucleus5
Cerebellum4.3
CerebellumPeduncles6.3
CiliaryGanglion79
CingulateCortex5.45
Colorectaladenocarcinoma5.6
DorsalRootGanglion41.65
FetalThyroid905.95
Fetalbrain5.8
Fetalliver86.7
Fetallung2386.75
GlobusPallidus4
Heart100.55
Hypothalamus6.05
Kidney4.5
Leukemia_chronicMyelogenousK-56211.9
Leukemia_promyelocytic-HL-605.55
Leukemialymphoblastic(MOLT-4)4.25
Liver7.9
Lung698.1
Lymphnode294.2
Lymphoma_burkitts(Daudi)29.5
Lymphoma_burkitts(Raji)8
MedullaOblongata4.8
OccipitalLobe4.95
OlfactoryBulb152.05
Ovary426.35
Pancreas176.95
PancreaticIslet219.5
ParietalLobe5.7
Pituitary6.5
Placenta943.75
Pons5.75
PrefrontalCortex6.85
Prostate415.85
Salivarygland91.65
SkeletalMuscle59.1
Skin209.9
SmoothMuscle2565.95
Spinalcord7.95
SubthalamicNucleus5
SuperiorCervicalGanglion37.85
TemporalLobe4.85
Testis117.65
TestisGermCell212.85
TestisIntersitial74.95
TestisLeydigCell157.65
TestisSeminiferousTubule72.55
Thalamus5.45
Thymus348.25
Thyroid208.5
Tongue169.35
Tonsil90.95
Trachea216.55
TrigeminalGanglion54.3
Uterus2310
UterusCorpus1773.15
WholeBlood5.75
Wholebrain4.4
colon460
pineal_day9.54
pineal_night21.2
retina11.175
small_intestine741
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P156322
  • 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
Amygdala2.05 ± 0.94
Basal Forebrain1.59 ± 0.17
Basal Part of Pons1.42 ± 0.43
Cerebellar Cortex1.57 ± 0.82
Cerebellar Nuclei1.87 ± 0.65
Claustrum2.72 ± 0.88
Epithalamus1.4 ± 0.77
Frontal Lobe1.61 ± 0.78
Globus Pallidus2.38 ± 0.37
Hypothalamus1.75 ± 0.56
Insula1.71 ± 0.7
Limbic Lobe1.86 ± 0.86
Mesencephalon1.85 ± 0.72
Myelencephalon1.72 ± 0.64
Occipital Lobe1.78 ± 0.62
Parietal Lobe1.74 ± 0.59
Pontine Tegmentum1.82 ± 0.8
Striatum2 ± 0.71
Subthalamus1.84 ± 0.61
Temporal Lobe1.62 ± 0.7
Thalamus1.67 ± 0.78
White Matter2.25 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col6a3CBCerebellum0.55
0.84
Col6a3CTXCerebral cortex2.12
1.23
Col6a3HIPHippocampal region3.13
2.93
Col6a3HPFHippocampal formation3.89
2.53
Col6a3HYHypothalamus5.34
2.56
Col6a3LSXLateral septal complex81.59
75.46
Col6a3MBMidbrain5.17
3.45
Col6a3MYMedulla4.54
4.23
Col6a3OLFOlfactory bulb2.65
1.49
Col6a3PPons10.68
7.44
Col6a3PALPallidum2.79
1.84
Col6a3RHPRetrohippocampal region4.73
2.26
Col6a3sAMYStriatum-like amygdalar nuclei2.15
1.28
Col6a3STRStriatum6.48
5.43
Col6a3STRdStriatum dorsal region0.62
0.33
Col6a3STRvStriatum ventral region1.02
0.62
Col6a3THThalamus1.87
1.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CO6A3_HUMAN_1029 13 1029 1041 DVVFLLDGSEGVR PRIDE
CO6A3_HUMAN_1054 11 1054 1064 VVESLDVGQDR PRIDE
CO6A3_HUMAN_1076 13 1076 1088 TRPEFYLNSYMNK PRIDE
CO6A3_HUMAN_1118 10 1118 1127 NILVSSAGSR PRIDE
CO6A3_HUMAN_1193 12 1193 1204 QLGTVQQVISER PRIDE
CO6A3_HUMAN_1216 16 1216 1231 LQPVLQPLPSPGVGGK PRIDE
CO6A3_HUMAN_1258 13 1258 1270 LVDYLDVGFDTTR PRIDE
CO6A3_HUMAN_1271 11 1271 1281 VAVIQFSDDPK PRIDE
CO6A3_HUMAN_1309 13 1309 1321 QINVGNALEYVSR PRIDE
CO6A3_HUMAN_1332 16 1332 1347 IEEGVPQFLVLISSGK PRIDE
CO6A3_HUMAN_1361 11 1361 1371 QFGVAPFTIAR PRIDE
CO6A3_HUMAN_1381 15 1381 1395 ISLSPEYVFSVSTFR PRIDE
CO6A3_HUMAN_1403 15 1403 1417 LLTPITTLTSEQIQK PRIDE
CO6A3_HUMAN_1404 15 1404 1418 LLTPITTLTSEQIQK PRIDE
CO6A3_HUMAN_1495 10 1495 1504 SQAPVLDAIR PRIDE
CO6A3_HUMAN_1536 16 1536 1551 IEDGVPQHLVLVLGGK PRIDE
CO6A3_HUMAN_1565 12 1565 1576 SSGIVSLGVGDR PRIDE
CO6A3_HUMAN_1581 11 1581 1591 TELQTITNDPR PRIDE
CO6A3_HUMAN_1601 8 1601 1608 ELPNIEER PRIDE
CO6A3_HUMAN_1653 8 1653 1660 DSFQEVLR PRIDE
CO6A3_HUMAN_1721 7 1721 1727 VGLEHLR PRIDE
CO6A3_HUMAN_1728 11 1728 1738 VNHFVPEAGSR PRIDE
CO6A3_HUMAN_1743 12 1743 1754 VPQIAFVITGGK PRIDE
CO6A3_HUMAN_1755 15 1755 1769 SVEDAQDVSLALTQR PRIDE
CO6A3_HUMAN_1798 35 1798 1832 VGNVQELSELSEQVLETLHDAMHETLCPGVTDAAK PRIDE
CO6A3_HUMAN_1848 9 1848 1856 DQNVFVAQK PRIDE
CO6A3_HUMAN_1919 13 1919 1931 SQHPYVLTEDTLK PRIDE
CO6A3_HUMAN_1947 18 1947 1964 VVIHFTDGADGDLADLHR PRIDE
CO6A3_HUMAN_1976 9 1976 1984 ALILVGLER PRIDE
CO6A3_HUMAN_1991 8 1991 1998 LMHLEFGR PRIDE
CO6A3_HUMAN_2007 20 2007 2026 LNLLDLDYELAEQLDNIAEK PRIDE
CO6A3_HUMAN_2228 24 2228 2251 GAQGPAGPAGPPGLIGEQGISGPR PRIDE
CO6A3_HUMAN_2371 14 2371 2384 GDSIDQCALIQSIK PRIDE
CO6A3_HUMAN_2445 15 2445 2459 VAVVTYNNEVTTEIR PRIDE
CO6A3_HUMAN_2484 13 2484 2496 QQSLETAMSFVAR PRIDE
CO6A3_HUMAN_2511 11 2511 2521 VAVFFSNTPTR PRIDE
CO6A3_HUMAN_2533 13 2533 2545 LSDAGITPLFLTR PRIDE
CO6A3_HUMAN_2738 20 2738 2757 IVVLMLTGEVPEQQLEEAQR PRIDE
CO6A3_HUMAN_2801 11 2801 2811 STELNEEPLMR PRIDE
CO6A3_HUMAN_534 11 534 544 NNLFTSSAGYR PRIDE
CO6A3_HUMAN_561 13 561 573 SLDEISQPAQELK PRIDE
CO6A3_HUMAN_609 16 609 624 AAPLQGMLPGLLAPLR PRIDE
CO6A3_HUMAN_610 16 610 625 AAPLQGMLPGLLAPLR PRIDE
CO6A3_HUMAN_700 8 700 707 SDILGHLR PRIDE
CO6A3_HUMAN_862 13 862 874 IIDELNVKPEGTR PRIDE
CO6A3_HUMAN_875 11 875 885 IAVAQYSDDVK PRIDE
CO6A3_HUMAN_913 13 913 925 ALNLGYALDYAQR PRIDE
CO6A3_HUMAN_952 13 952 964 SSDRVDGPASNLK PRIDE
CO6A3_HUMAN_965 12 965 976 QSGVVPFIFQAK PRIDE
CO6A3_HUMAN_976 25 976 1000 NADPAELEQIVLSPAFILAAESLPK PRIDE
PAp00025296 12 3140 3151 FWYGGCGGNENK 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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