AutismKB 2.0

Annotation Detail for COL4A1


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Basic Information Top
Gene Symbol:COL4A1 ( arresten )
Gene Full Name: collagen, type IV, alpha 1
Band: 13q34
Quick LinksEntrez ID:1282; OMIM: 120130; Uniprot ID:CO4A1_HUMAN; ENSEMBL ID: ENSG00000187498; HGNC ID: 2202
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 body111 / 707611568
blastocyst18 / 62319288
fetus103 / 564012182
neonate3 / 3109796
infant0 / 236200 
juvenile3 / 5555653
adult221 / 1939121113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma34 / 82823410
colorectal tumor12 / 114246105
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor11 / 26384541
glioma18 / 106883168
head and neck tumor5 / 13630236
kidney tumor9 / 68959130
leukemia1 / 9584210
liver tumor5 / 9635951
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal491 / 3360307146
ovarian tumor7 / 7668291
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue10 / 13106763
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone23 / 71655320
bone marrow9 / 48801184
brain29 / 110098926
cervix0 / 481710 
connective tissue19 / 149255127
ear7 / 16212431
embryonic tissue143 / 215722662
esophagus1 / 2020949
eye22 / 211054104
heart37 / 89626412
intestine25 / 234472106
kidney29 / 211777136
larynx1 / 2414541
liver6 / 20774328
lung41 / 336974121
lymph0 / 442700 
lymph node0 / 916100 
mammary gland8 / 15327152
mouth4 / 6705259
muscle6 / 10771555
nerve9 / 15768570
ovary7 / 10205168
pancreas26 / 214812121
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta65 / 280825231
prostate3 / 18934515
salivary gland0 / 201550 
skin10 / 21057447
spleen10 / 53952185
stomach12 / 96619124
testis7 / 33044221
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord3 / 13680219
uterus33 / 232878141
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211981_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte1207.15
AdrenalCortex5.75
Adrenalgland7.1
Amygdala4.55
Appendix4.6
AtrioventricularNode6.8
BDCA4+_DentriticCells4.2
Bonemarrow4.3
BronchialEpithelialCells4.45
CD105+_Endothelial4
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)4.6
CD33+_Myeloid4.65
CD34+4.5
CD4+_Tcells4.7
CD56+_NKCells4.95
CD71+_EarlyErythroid4.05
CD8+_Tcells3.3
CardiacMyocytes629.65
Caudatenucleus3.9
Cerebellum3.55
CerebellumPeduncles5
CiliaryGanglion11.55
CingulateCortex4.45
Colorectaladenocarcinoma4.4
DorsalRootGanglion3.55
FetalThyroid181.35
Fetalbrain30.2
Fetalliver11.4
Fetallung700.2
GlobusPallidus3.2
Heart43.8
Hypothalamus4.75
Kidney6
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.85
Leukemialymphoblastic(MOLT-4)3.55
Liver6
Lung183
Lymphnode20.05
Lymphoma_burkitts(Daudi)5.6
Lymphoma_burkitts(Raji)6.05
MedullaOblongata4
OccipitalLobe3.95
OlfactoryBulb45.9
Ovary22
Pancreas10.2
PancreaticIslet11.15
ParietalLobe4.65
Pituitary5.2
Placenta2328.25
Pons4.15
PrefrontalCortex7.35
Prostate22.85
Salivarygland3.55
SkeletalMuscle5
Skin3.5
SmoothMuscle497.25
Spinalcord4.7
SubthalamicNucleus3.95
SuperiorCervicalGanglion4.9
TemporalLobe3.95
Testis3.8
TestisGermCell7.25
TestisIntersitial3.7
TestisLeydigCell4.3
TestisSeminiferousTubule3.75
Thalamus4.45
Thymus10.6
Thyroid44.85
Tongue4.25
Tonsil4.4
Trachea14.55
TrigeminalGanglion4.2
Uterus239.55
UterusCorpus81.75
WholeBlood4.8
Wholebrain3.75
colon41.35
pineal_day5.04
pineal_night5.22
retina13.575
small_intestine89.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P68342
  • 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
Amygdala2.63 ± 1.04
Basal Forebrain2.03 ± 0.57
Basal Part of Pons1.58 ± 0.48
Cerebellar Cortex2.05 ± 0.6
Cerebellar Nuclei2.25 ± 0.57
Claustrum2.66 ± 0.92
Epithalamus1.77 ± 0.67
Frontal Lobe2.1 ± 0.79
Globus Pallidus2.96 ± 1.42
Hypothalamus1.81 ± 0.7
Insula1.9 ± 0.71
Limbic Lobe2.37 ± 0.73
Mesencephalon2.28 ± 0.71
Myelencephalon2.21 ± 0.75
Occipital Lobe2.1 ± 0.83
Parietal Lobe2.27 ± 0.81
Pontine Tegmentum2.23 ± 0.77
Striatum1.98 ± 0.73
Subthalamus1.95 ± 0.78
Temporal Lobe2.2 ± 0.8
Thalamus2.12 ± 0.7
White Matter2.39 ± 0.55
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024096 14 1482 1495 AHGQDLGTAGSCLR 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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