AutismKB 2.0

Annotation Detail for COL5A1


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Basic Information Top
Gene Symbol:COL5A1 ( - )
Gene Full Name: collagen, type V, alpha 1
Band: 9q34.3
Quick LinksEntrez ID:1289; OMIM: 120215; Uniprot ID:CO5A1_HUMAN; ENSEMBL ID: ENSG00000130635; HGNC ID: 2209
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 body129 / 707611823
blastocyst9 / 62319144
fetus88 / 564012156
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult171 / 193912188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor7 / 9417874
cervical tumor5 / 34366145
chondrosarcoma23 / 82823277
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor4 / 26384515
glioma13 / 106883121
head and neck tumor9 / 13630266
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor4 / 9635941
lung tumor8 / 10312777
lymphoma1 / 7175513
non-neoplasia16 / 97250164
normal385 / 3360307114
ovarian tumor10 / 76682130
pancreatic tumor31 / 104616296
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma5 / 46356107
skin tumor2 / 12494916
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone32 / 71655446
bone marrow8 / 48801163
brain36 / 110098932
cervix5 / 48171103
connective tissue29 / 149255194
ear5 / 16212308
embryonic tissue156 / 215722723
esophagus0 / 202090 
eye29 / 211054137
heart26 / 89626290
intestine11 / 23447246
kidney6 / 21177728
larynx0 / 241450 
liver7 / 20774333
lung25 / 33697474
lymph0 / 442700 
lymph node1 / 9161010
mammary gland13 / 15327184
mouth2 / 6705229
muscle1 / 1077159
nerve3 / 15768190
ovary11 / 102051107
pancreas34 / 214812158
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta20 / 28082571
prostate2 / 18934510
salivary gland0 / 201550 
skin22 / 210574104
spleen4 / 5395274
stomach7 / 9661972
testis3 / 3304429
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus28 / 232878120
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203325_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.4
Adipocyte119.75
AdrenalCortex14.7
Adrenalgland10.95
Amygdala9.6
Appendix12.95
AtrioventricularNode17.55
BDCA4+_DentriticCells8.6
Bonemarrow11.75
BronchialEpithelialCells8.8
CD105+_Endothelial9.75
CD14+_Monocytes10.65
CD19+_BCells(neg._sel.)9.8
CD33+_Myeloid11.2
CD34+12.9
CD4+_Tcells9.3
CD56+_NKCells10.05
CD71+_EarlyErythroid9.6
CD8+_Tcells8.15
CardiacMyocytes159.15
Caudatenucleus9.15
Cerebellum9.3
CerebellumPeduncles17.5
CiliaryGanglion11.1
CingulateCortex11.2
Colorectaladenocarcinoma9.55
DorsalRootGanglion12.15
FetalThyroid35.35
Fetalbrain9.85
Fetalliver10.1
Fetallung107.1
GlobusPallidus9.3
Heart22.15
Hypothalamus10.95
Kidney10.8
Leukemia_chronicMyelogenousK-5629.1
Leukemia_promyelocytic-HL-609
Leukemialymphoblastic(MOLT-4)7.8
Liver18.2
Lung26.8
Lymphnode8.3
Lymphoma_burkitts(Daudi)14.05
Lymphoma_burkitts(Raji)17
MedullaOblongata9
OccipitalLobe9.05
OlfactoryBulb24.25
Ovary10.1
Pancreas8.8
PancreaticIslet10.6
ParietalLobe12.75
Pituitary11.85
Placenta130.75
Pons20.05
PrefrontalCortex10.75
Prostate40.35
Salivarygland9.05
SkeletalMuscle18
Skin10.25
SmoothMuscle242.25
Spinalcord10.25
SubthalamicNucleus9.85
SuperiorCervicalGanglion19.2
TemporalLobe9.95
Testis8.55
TestisGermCell11.95
TestisIntersitial8.55
TestisLeydigCell11.5
TestisSeminiferousTubule8.6
Thalamus10.8
Thymus7.85
Thyroid11.7
Tongue12.75
Tonsil10.4
Trachea10.2
TrigeminalGanglion18.6
Uterus167.2
UterusCorpus23.6
WholeBlood10.25
Wholebrain7.5
colon59.3
pineal_day27.28
pineal_night32.88
retina15.8
small_intestine152.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_200_PI416408490
  • 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
Amygdala2.97 ± 0.97
Basal Forebrain2.24 ± 0.2
Basal Part of Pons2.2 ± 0.35
Cerebellar Cortex2.38 ± 0.78
Cerebellar Nuclei2.67 ± 0.75
Claustrum3.13 ± 0.63
Epithalamus2.58 ± 0.73
Frontal Lobe2.25 ± 0.72
Globus Pallidus2.85 ± 0.68
Hypothalamus2.48 ± 1.08
Insula2.58 ± 0.82
Limbic Lobe2.54 ± 0.72
Mesencephalon2.71 ± 0.71
Myelencephalon2.56 ± 0.73
Occipital Lobe3.02 ± 0.85
Parietal Lobe2.65 ± 0.74
Pontine Tegmentum2.61 ± 0.7
Striatum2.84 ± 0.77
Subthalamus3.02 ± 0.25
Temporal Lobe2.54 ± 0.7
Thalamus2.49 ± 0.68
White Matter2.45 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col5a1CBCerebellum25.91
50.63
Col5a1CTXCerebral cortex42.63
27.72
Col5a1HIPHippocampal region12.15
11.82
Col5a1HPFHippocampal formation21.38
20.6
Col5a1HYHypothalamus1.45
1.12
Col5a1LSXLateral septal complex5.8
3.06
Col5a1MBMidbrain5.36
4.43
Col5a1MYMedulla12.49
11.92
Col5a1OLFOlfactory bulb24.13
14.38
Col5a1PPons6.5
6.33
Col5a1PALPallidum2.98
2.99
Col5a1RHPRetrohippocampal region34.82
31.45
Col5a1sAMYStriatum-like amygdalar nuclei5.6
3.68
Col5a1STRStriatum5.82
4.67
Col5a1STRdStriatum dorsal region5.95
5.2
Col5a1STRvStriatum ventral region5.1
3.79
Col5a1THThalamus3.37
2.56
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009835 24 1641 1664 DLQLCHPDFPDGEYWVDPNQGCSR 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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