AutismKB 2.0

Annotation Detail for COL5A3


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Basic Information Top
Gene Symbol:COL5A3 ( - )
Gene Full Name: collagen, type V, alpha 3
Band: 19p13.2
Quick LinksEntrez ID:50509; OMIM: 120216; Uniprot ID:CO5A3_HUMAN; ENSEMBL ID: ENSG00000080573; HGNC ID: 14864
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 
blastocyst4 / 6231964
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult33 / 193912117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma8 / 10688374
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal40 / 336030711
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine6 / 23447225
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland9 / 15327158
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 52255_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.15
Adipocyte75.9
AdrenalCortex18.8
Adrenalgland13.75
Amygdala25.95
Appendix17.7
AtrioventricularNode15.35
BDCA4+_DentriticCells9.9
Bonemarrow16.05
BronchialEpithelialCells13.4
CD105+_Endothelial12.25
CD14+_Monocytes12.7
CD19+_BCells(neg._sel.)13.5
CD33+_Myeloid14.55
CD34+16.2
CD4+_Tcells11.9
CD56+_NKCells11.65
CD71+_EarlyErythroid12.15
CD8+_Tcells10.95
CardiacMyocytes31.1
Caudatenucleus32.95
Cerebellum13.65
CerebellumPeduncles17.15
CiliaryGanglion12.1
CingulateCortex22.15
Colorectaladenocarcinoma13.25
DorsalRootGanglion17.2
FetalThyroid18
Fetalbrain13.15
Fetalliver11.8
Fetallung13.8
GlobusPallidus20.55
Heart19.65
Hypothalamus14.95
Kidney13.25
Leukemia_chronicMyelogenousK-56211.6
Leukemia_promyelocytic-HL-6011.9
Leukemialymphoblastic(MOLT-4)10.8
Liver22.35
Lung15.7
Lymphnode11.9
Lymphoma_burkitts(Daudi)18.5
Lymphoma_burkitts(Raji)21.1
MedullaOblongata13.1
OccipitalLobe15
OlfactoryBulb22.7
Ovary10.65
Pancreas13.65
PancreaticIslet14.95
ParietalLobe17.95
Pituitary15.9
Placenta17.25
Pons17.45
PrefrontalCortex55.25
Prostate14.75
Salivarygland10.95
SkeletalMuscle26.65
Skin20.9
SmoothMuscle16.4
Spinalcord34.65
SubthalamicNucleus24.3
SuperiorCervicalGanglion19.6
TemporalLobe16.6
Testis13.15
TestisGermCell10.35
TestisIntersitial11.7
TestisLeydigCell14.55
TestisSeminiferousTubule11.1
Thalamus20.8
Thymus11.6
Thyroid19.2
Tongue16.2
Tonsil13.65
Trachea12.2
TrigeminalGanglion18.8
Uterus13.45
UterusCorpus13.25
WholeBlood12.75
Wholebrain12.45
colon14.05
pineal_day23.34
pineal_night23.8
retina33
small_intestine12.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9855_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
Amygdala5.43 ± 0.77
Basal Forebrain4.56 ± 0.75
Basal Part of Pons4.09 ± 0.64
Cerebellar Cortex4.1 ± 0.74
Cerebellar Nuclei4.75 ± 0.51
Claustrum6.03 ± 0.85
Epithalamus5.36 ± 0.51
Frontal Lobe4.48 ± 0.71
Globus Pallidus4.09 ± 0.55
Hypothalamus3.17 ± 0.41
Insula4.48 ± 0.59
Limbic Lobe4.92 ± 0.76
Mesencephalon4.56 ± 0.9
Myelencephalon4.86 ± 0.87
Occipital Lobe5.04 ± 1.08
Parietal Lobe4.75 ± 0.73
Pontine Tegmentum4.57 ± 0.74
Striatum5.04 ± 0.88
Subthalamus4.53 ± 0.88
Temporal Lobe4.54 ± 0.68
Thalamus4.23 ± 0.71
White Matter4.87 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col5a3CBCerebellum49.17
64.57
Col5a3CTXCerebral cortex7.64
6.32
Col5a3HIPHippocampal region15
19.62
Col5a3HPFHippocampal formation12.09
13.74
Col5a3HYHypothalamus12.46
11.35
Col5a3LSXLateral septal complex7.18
6.32
Col5a3MBMidbrain10.16
10.69
Col5a3MYMedulla27.31
34.36
Col5a3OLFOlfactory bulb13.52
12.87
Col5a3PPons14.3
16.3
Col5a3PALPallidum3.35
2.7
Col5a3RHPRetrohippocampal region7.93
6.74
Col5a3sAMYStriatum-like amygdalar nuclei0.7
0.62
Col5a3STRStriatum1.77
1.59
Col5a3STRdStriatum dorsal region0.74
0.68
Col5a3STRvStriatum ventral region3.13
2.73
Col5a3THThalamus11.99
10.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CO5A3_HUMAN_817 15 817 831 GKSGKTGQPGLEGER 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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