AutismKB 2.0

Annotation Detail for COL4A4


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Basic Information Top
Gene Symbol:COL4A4 ( CA44 )
Gene Full Name: collagen, type IV, alpha 4
Band: 2q36.3
Quick LinksEntrez ID:1286; OMIM: 120131; Uniprot ID:CO4A4_HUMAN; ENSEMBL ID: ENSG00000081052; HGNC ID: 2206
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 
fetus8 / 56401214
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 tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal56 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
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 gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye11 / 21105452
heart0 / 896260 
intestine0 / 2344720 
kidney12 / 21177756
larynx0 / 241450 
liver7 / 20774333
lung7 / 33697420
lymph0 / 442700 
lymph node3 / 9161032
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach3 / 9661931
testis2 / 3304426
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214602_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.1
Adipocyte4.15
AdrenalCortex4.5
Adrenalgland3.9
Amygdala4.45
Appendix4.4
AtrioventricularNode3.25
BDCA4+_DentriticCells4.6
Bonemarrow4.3
BronchialEpithelialCells4.1
CD105+_Endothelial4.25
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.35
CD34+5.3
CD4+_Tcells4.5
CD56+_NKCells5.05
CD71+_EarlyErythroid4
CD8+_Tcells4
CardiacMyocytes5.75
Caudatenucleus3.8
Cerebellum3.45
CerebellumPeduncles4.95
CiliaryGanglion3.2
CingulateCortex4.35
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.25
FetalThyroid4.1
Fetalbrain4.25
Fetalliver3.7
Fetallung3.5
GlobusPallidus3.2
Heart5.65
Hypothalamus4.6
Kidney3.9
Leukemia_chronicMyelogenousK-5623.85
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.35
Liver5.85
Lung4.7
Lymphnode3.65
Lymphoma_burkitts(Daudi)5.5
Lymphoma_burkitts(Raji)6.05
MedullaOblongata3.9
OccipitalLobe3.8
OlfactoryBulb3.35
Ovary2.85
Pancreas3.45
PancreaticIslet4.5
ParietalLobe4.55
Pituitary5.05
Placenta4.3
Pons4.2
PrefrontalCortex5.2
Prostate4.95
Salivarygland3.45
SkeletalMuscle5.25
Skin3.35
SmoothMuscle4.85
Spinalcord4.55
SubthalamicNucleus4
SuperiorCervicalGanglion5.05
TemporalLobe3.9
Testis3.6
TestisGermCell3.45
TestisIntersitial3.5
TestisLeydigCell4.2
TestisSeminiferousTubule3.6
Thalamus4.35
Thymus3.3
Thyroid5.3
Tongue4.25
Tonsil4.15
Trachea3.55
TrigeminalGanglion4.25
Uterus3.45
UterusCorpus3.95
WholeBlood4.6
Wholebrain3.55
colon4.25
pineal_day5.22
pineal_night5.3
retina5.125
small_intestine4.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12015_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
Amygdala2.41 ± 1
Basal Forebrain2.26 ± 0.39
Basal Part of Pons2.19 ± 0.76
Cerebellar Cortex2.11 ± 0.61
Cerebellar Nuclei2.79 ± 0.75
Claustrum2.91 ± 0.55
Epithalamus1.99 ± 0.9
Frontal Lobe2.59 ± 0.81
Globus Pallidus3.72 ± 0.68
Hypothalamus2.51 ± 0.47
Insula2.31 ± 0.83
Limbic Lobe2.27 ± 0.71
Mesencephalon2.8 ± 0.78
Myelencephalon2.63 ± 0.72
Occipital Lobe2.49 ± 0.85
Parietal Lobe2.58 ± 0.86
Pontine Tegmentum2.72 ± 0.84
Striatum3.24 ± 0.82
Subthalamus2.36 ± 0.3
Temporal Lobe2.38 ± 0.83
Thalamus3.65 ± 0.64
White Matter3.18 ± 0.63
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col4a4CBCerebellum1.25
2.08
Col4a4CTXCerebral cortex1.57
1.94
Col4a4HIPHippocampal region2.97
4.09
Col4a4HPFHippocampal formation2.24
3.06
Col4a4HYHypothalamus0.93
0.71
Col4a4LSXLateral septal complex0.8
0.61
Col4a4MBMidbrain0.7
1.03
Col4a4MYMedulla2.02
2.26
Col4a4OLFOlfactory bulb1.32
2.08
Col4a4PPons1.68
1.77
Col4a4PALPallidum0.71
0.58
Col4a4RHPRetrohippocampal region1.02
1.57
Col4a4sAMYStriatum-like amygdalar nuclei0.12
0.38
Col4a4STRStriatum0.88
1.04
Col4a4STRdStriatum dorsal region0.82
1.17
Col4a4STRvStriatum ventral region1.13
0.91
Col4a4THThalamus2.33
3.11
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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