AutismKB 2.0

Annotation Detail for COL5A2


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Basic Information Top
Gene Symbol:COL5A2 ( MGC105115 )
Gene Full Name: collagen, type V, alpha 2
Band: 2q32.2
Quick LinksEntrez ID:1290; OMIM: 120190; Uniprot ID:CO5A2_HUMAN; ENSEMBL ID: ENSG00000204262; HGNC ID: 2210
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 body53 / 70761749
blastocyst17 / 62319272
fetus97 / 564012171
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult245 / 1939121126
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) tumor19 / 94178201
cervical tumor2 / 3436658
chondrosarcoma15 / 82823181
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor23 / 119369192
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor11 / 13630280
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor5 / 9635951
lung tumor10 / 10312796
lymphoma3 / 7175541
non-neoplasia7 / 9725071
normal316 / 336030794
ovarian tumor3 / 7668239
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor34 / 125191271
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone26 / 71655362
bone marrow14 / 48801286
brain76 / 110098969
cervix2 / 4817141
connective tissue17 / 149255113
ear5 / 16212308
embryonic tissue99 / 215722458
esophagus1 / 2020949
eye24 / 211054113
heart21 / 89626234
intestine23 / 23447298
kidney3 / 21177714
larynx1 / 2414541
liver8 / 20774338
lung31 / 33697491
lymph0 / 442700 
lymph node2 / 9161021
mammary gland24 / 153271156
mouth3 / 6705244
muscle5 / 10771546
nerve1 / 1576863
ovary7 / 10205168
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta19 / 28082567
prostate2 / 18934510
salivary gland0 / 201550 
skin22 / 210574104
spleen2 / 5395237
stomach15 / 96619155
testis2 / 3304426
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus35 / 232878150
vascular15 / 51780289
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221730_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.75
Adipocyte445.8
AdrenalCortex6.65
Adrenalgland5.25
Amygdala6.2
Appendix9.7
AtrioventricularNode5.75
BDCA4+_DentriticCells6.1
Bonemarrow6.05
BronchialEpithelialCells13.7
CD105+_Endothelial6.55
CD14+_Monocytes6.3
CD19+_BCells(neg._sel.)6.15
CD33+_Myeloid7.6
CD34+7.3
CD4+_Tcells6
CD56+_NKCells6.6
CD71+_EarlyErythroid5.6
CD8+_Tcells5.5
CardiacMyocytes799.6
Caudatenucleus5.3
Cerebellum4.85
CerebellumPeduncles6.95
CiliaryGanglion4.9
CingulateCortex6.15
Colorectaladenocarcinoma5.9
DorsalRootGanglion6.1
FetalThyroid70.9
Fetalbrain5.85
Fetalliver107.1
Fetallung281.5
GlobusPallidus4.55
Heart8.6
Hypothalamus6.35
Kidney5.1
Leukemia_chronicMyelogenousK-5625.3
Leukemia_promyelocytic-HL-605.3
Leukemialymphoblastic(MOLT-4)4.65
Liver8.7
Lung9.35
Lymphnode5.2
Lymphoma_burkitts(Daudi)7.8
Lymphoma_burkitts(Raji)9.45
MedullaOblongata5.45
OccipitalLobe5.45
OlfactoryBulb7.45
Ovary4.35
Pancreas5.5
PancreaticIslet6.45
ParietalLobe7.05
Pituitary6.8
Placenta153.4
Pons5.85
PrefrontalCortex10.9
Prostate6.95
Salivarygland4.95
SkeletalMuscle9.05
Skin5.55
SmoothMuscle1374.35
Spinalcord6.5
SubthalamicNucleus5.75
SuperiorCervicalGanglion7.65
TemporalLobe5.6
Testis5.8
TestisGermCell5.25
TestisIntersitial5.3
TestisLeydigCell6.6
TestisSeminiferousTubule5.05
Thalamus6
Thymus4.7
Thyroid7.5
Tongue6.7
Tonsil5.9
Trachea5.25
TrigeminalGanglion7.2
Uterus79.95
UterusCorpus26.1
WholeBlood6.35
Wholebrain4.95
colon22.35
pineal_day7.48
pineal_night8.24
retina8.175
small_intestine52.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P218734
  • 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
Amygdala4.31 ± 0.78
Basal Forebrain4.58 ± 0.64
Basal Part of Pons4.51 ± 1.03
Cerebellar Cortex3.67 ± 0.68
Cerebellar Nuclei3.95 ± 0.61
Claustrum3.94 ± 1.22
Epithalamus4.27 ± 0.87
Frontal Lobe4.88 ± 0.7
Globus Pallidus3.3 ± 1.05
Hypothalamus4 ± 1.17
Insula4.4 ± 0.41
Limbic Lobe4.77 ± 1.16
Mesencephalon4.2 ± 0.96
Myelencephalon4.37 ± 1.06
Occipital Lobe3.26 ± 1.5
Parietal Lobe4.78 ± 0.77
Pontine Tegmentum4.36 ± 1.06
Striatum3.28 ± 1.28
Subthalamus3.76 ± 0.74
Temporal Lobe4.39 ± 0.81
Thalamus4.03 ± 0.92
White Matter3.15 ± 2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col5a2CBCerebellum2.66
3.76
Col5a2CTXCerebral cortex2.6
2.19
Col5a2HIPHippocampal region9.39
10.01
Col5a2HPFHippocampal formation10.93
11.08
Col5a2HYHypothalamus5.09
6.4
Col5a2LSXLateral septal complex1.98
1.28
Col5a2MBMidbrain1.83
3.03
Col5a2MYMedulla7.22
10.04
Col5a2OLFOlfactory bulb13.85
14.39
Col5a2PPons6.75
12.11
Col5a2PALPallidum5.17
6.38
Col5a2RHPRetrohippocampal region13.31
11.85
Col5a2sAMYStriatum-like amygdalar nuclei6.58
8.34
Col5a2STRStriatum2.89
3.33
Col5a2STRdStriatum dorsal region0.41
0.38
Col5a2STRvStriatum ventral region8.75
9.57
Col5a2THThalamus1.44
2.03
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00137676 15 1354 1368 SPDNKPVWYGLDMNR 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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