AutismKB 2.0

Annotation Detail for COL4A3


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Basic Information Top
Gene Symbol:COL4A3 ( - )
Gene Full Name: collagen, type IV, alpha 3 (Goodpasture antigen)
Band: 2q36.3
Quick LinksEntrez ID:1285; OMIM: 120070; Uniprot ID:CO4A3_HUMAN; ENSEMBL ID: ENSG00000169031; HGNC ID: 2204
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 body0 / 707610 
blastocyst0 / 623190 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult28 / 193912114
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal50 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye15 / 21105471
heart0 / 896260 
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung10 / 33697429
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland6 / 16585361
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216898_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.2
Adipocyte10.9
AdrenalCortex17.65
Adrenalgland10.3
Amygdala10.4
Appendix15.55
AtrioventricularNode15.15
BDCA4+_DentriticCells9.45
Bonemarrow13.8
BronchialEpithelialCells10.5
CD105+_Endothelial10.6
CD14+_Monocytes12.3
CD19+_BCells(neg._sel.)10.75
CD33+_Myeloid12.45
CD34+12.2
CD4+_Tcells10.25
CD56+_NKCells11.15
CD71+_EarlyErythroid11.15
CD8+_Tcells8.55
CardiacMyocytes23.5
Caudatenucleus10
Cerebellum9.3
CerebellumPeduncles14.6
CiliaryGanglion12.3
CingulateCortex11.7
Colorectaladenocarcinoma11.25
DorsalRootGanglion12.9
FetalThyroid12.65
Fetalbrain12.05
Fetalliver10.05
Fetallung8.45
GlobusPallidus9.4
Heart19.55
Hypothalamus10.6
Kidney11.4
Leukemia_chronicMyelogenousK-5629.8
Leukemia_promyelocytic-HL-6010.05
Leukemialymphoblastic(MOLT-4)7.9
Liver20.75
Lung12.4
Lymphnode9.5
Lymphoma_burkitts(Daudi)15
Lymphoma_burkitts(Raji)20.3
MedullaOblongata9.9
OccipitalLobe9.75
OlfactoryBulb8.35
Ovary9.4
Pancreas9.7
PancreaticIslet12.15
ParietalLobe14.3
Pituitary13.7
Placenta10.5
Pons11.9
PrefrontalCortex13.15
Prostate13
Salivarygland9.55
SkeletalMuscle16.9
Skin12.6
SmoothMuscle12.75
Spinalcord11.55
SubthalamicNucleus12.1
SuperiorCervicalGanglion24.5
TemporalLobe11.15
Testis9.6
TestisGermCell10
TestisIntersitial10.2
TestisLeydigCell12.4
TestisSeminiferousTubule9.8
Thalamus11.95
Thymus9.2
Thyroid13.5
Tongue15.4
Tonsil11.55
Trachea9.1
TrigeminalGanglion19.05
Uterus8.8
UterusCorpus13.1
WholeBlood11.45
Wholebrain8.9
colon10.45
pineal_day14.4
pineal_night14.28
retina13.975
small_intestine9.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P308469
  • 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
Amygdala3.29 ± 0.86
Basal Forebrain3.32 ± 0.17
Basal Part of Pons3.37 ± 0.53
Cerebellar Cortex3.2 ± 0.59
Cerebellar Nuclei4.27 ± 0.67
Claustrum4.03 ± 1.19
Epithalamus3.46 ± 0.76
Frontal Lobe3.59 ± 0.8
Globus Pallidus5.46 ± 0.64
Hypothalamus3.2 ± 0.51
Insula3.43 ± 1.59
Limbic Lobe3.45 ± 0.87
Mesencephalon3.86 ± 0.82
Myelencephalon3.97 ± 0.72
Occipital Lobe3.79 ± 0.8
Parietal Lobe3.96 ± 0.84
Pontine Tegmentum3.98 ± 0.89
Striatum4.67 ± 1.03
Subthalamus3.97 ± 0.52
Temporal Lobe3.49 ± 0.86
Thalamus5.13 ± 0.66
White Matter4.99 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col4a3CBCerebellum1.66
2.39
Col4a3CTXCerebral cortex0.98
0.57
Col4a3HIPHippocampal region1.09
0.76
Col4a3HPFHippocampal formation1.36
0.83
Col4a3HYHypothalamus0.56
0.35
Col4a3LSXLateral septal complex0.44
0.39
Col4a3MBMidbrain0.53
0.49
Col4a3MYMedulla1.66
1.07
Col4a3OLFOlfactory bulb2.46
2.07
Col4a3PPons1.14
0.57
Col4a3PALPallidum0.26
0.14
Col4a3RHPRetrohippocampal region1.78
0.84
Col4a3sAMYStriatum-like amygdalar nuclei0.36
0.22
Col4a3STRStriatum0.57
0.46
Col4a3STRdStriatum dorsal region0.59
0.53
Col4a3STRvStriatum ventral region0.52
0.26
Col4a3THThalamus0.35
0.37
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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