AutismKB 2.0

Annotation Detail for COL4A3BP


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Basic Information Top
Gene Symbol:COL4A3BP ( CERT,CERTL,FLJ20597,GPBP,STARD11 )
Gene Full Name: collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
Band: 5q13.3
Quick LinksEntrez ID:10087; OMIM: 604677; Uniprot ID:C43BP_HUMAN; ENSEMBL ID: ENSG00000113163; HGNC ID: 2205
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 body4 / 7076156
blastocyst1 / 6231916
fetus29 / 56401251
neonate1 / 3109732
infant2 / 2362084
juvenile4 / 5555671
adult93 / 193912147
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor19 / 26384572
glioma0 / 1068830 
head and neck tumor8 / 13630258
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia10 / 97250102
normal160 / 336030747
ovarian tumor4 / 7668252
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone4 / 7165555
bone marrow0 / 488010 
brain45 / 110098940
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye12 / 21105456
heart7 / 8962678
intestine5 / 23447221
kidney13 / 21177761
larynx2 / 2414582
liver3 / 20774314
lung11 / 33697432
lymph1 / 4427022
lymph node10 / 91610109
mammary gland9 / 15327158
mouth2 / 6705229
muscle4 / 10771537
nerve2 / 15768126
ovary7 / 10205168
pancreas15 / 21481269
parathyroid8 / 20539389
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta14 / 28082549
prostate8 / 18934542
salivary gland0 / 201550 
skin8 / 21057437
spleen5 / 5395292
stomach1 / 9661910
testis21 / 33044263
thymus4 / 8113149
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus8 / 23287834
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219625_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts23.35
Adipocyte11.7
AdrenalCortex12.4
Adrenalgland9.4
Amygdala14.6
Appendix7.8
AtrioventricularNode6.45
BDCA4+_DentriticCells25.65
Bonemarrow7.15
BronchialEpithelialCells8.7
CD105+_Endothelial7.95
CD14+_Monocytes52.85
CD19+_BCells(neg._sel.)14.75
CD33+_Myeloid57
CD34+13.7
CD4+_Tcells16.7
CD56+_NKCells21.6
CD71+_EarlyErythroid7.7
CD8+_Tcells10.3
CardiacMyocytes9.7
Caudatenucleus6.45
Cerebellum5.95
CerebellumPeduncles15
CiliaryGanglion6
CingulateCortex9.95
Colorectaladenocarcinoma6.85
DorsalRootGanglion6.55
FetalThyroid20.75
Fetalbrain8.85
Fetalliver7.25
Fetallung6.45
GlobusPallidus5.65
Heart9.7
Hypothalamus11.7
Kidney6.15
Leukemia_chronicMyelogenousK-5626.95
Leukemia_promyelocytic-HL-606.05
Leukemialymphoblastic(MOLT-4)5.3
Liver9.75
Lung7.5
Lymphnode6
Lymphoma_burkitts(Daudi)9.4
Lymphoma_burkitts(Raji)10.1
MedullaOblongata9.95
OccipitalLobe14.55
OlfactoryBulb6.05
Ovary5
Pancreas5.5
PancreaticIslet8.15
ParietalLobe13.95
Pituitary13.05
Placenta6.55
Pons10.1
PrefrontalCortex60
Prostate12.8
Salivarygland5.85
SkeletalMuscle10.45
Skin6.05
SmoothMuscle8.8
Spinalcord6.55
SubthalamicNucleus7.8
SuperiorCervicalGanglion9.55
TemporalLobe7.9
Testis10.45
TestisGermCell18.85
TestisIntersitial20.95
TestisLeydigCell9.65
TestisSeminiferousTubule11.55
Thalamus7.2
Thymus6.7
Thyroid19.5
Tongue8.95
Tonsil10.45
Trachea8.5
TrigeminalGanglion7.6
Uterus10.9
UterusCorpus7.05
WholeBlood52.65
Wholebrain8.6
colon8.8
pineal_day22.82
pineal_night20.48
retina8.5
small_intestine7.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13315_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
Amygdala9.35 ± 0.24
Basal Forebrain9.42 ± 0.16
Basal Part of Pons9.42 ± 0.19
Cerebellar Cortex9.38 ± 0.15
Cerebellar Nuclei9.58 ± 0.25
Claustrum9.38 ± 0.21
Epithalamus9.24 ± 0.3
Frontal Lobe9.59 ± 0.22
Globus Pallidus9.18 ± 0.23
Hypothalamus9.59 ± 0.11
Insula9.57 ± 0.14
Limbic Lobe9.57 ± 0.25
Mesencephalon9.52 ± 0.33
Myelencephalon9.44 ± 0.25
Occipital Lobe9.43 ± 0.24
Parietal Lobe9.5 ± 0.26
Pontine Tegmentum9.56 ± 0.26
Striatum9.73 ± 0.24
Subthalamus9.92 ± 0.16
Temporal Lobe9.46 ± 0.21
Thalamus9.43 ± 0.19
White Matter8.94 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col4a3bpCBCerebellum26.26
58.09
Col4a3bpCTXCerebral cortex100
100
Col4a3bpHIPHippocampal region58.99
100
Col4a3bpHPFHippocampal formation70.67
100
Col4a3bpHYHypothalamus83.38
82.87
Col4a3bpLSXLateral septal complex100
100
Col4a3bpMBMidbrain61.4
74.09
Col4a3bpMYMedulla43.31
70.28
Col4a3bpOLFOlfactory bulb79.89
81.69
Col4a3bpPPons52.88
77.12
Col4a3bpPALPallidum68.28
79.89
Col4a3bpRHPRetrohippocampal region93.71
100
Col4a3bpsAMYStriatum-like amygdalar nuclei67.64
66.47
Col4a3bpSTRStriatum60.72
51.87
Col4a3bpSTRdStriatum dorsal region54.02
45
Col4a3bpSTRvStriatum ventral region71.42
56.78
Col4a3bpTHThalamus89.87
97.02
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
C43BP_HUMAN_161 8 161 168 LAEMETFR PRIDE
C43BP_HUMAN_333 14 333 346 QDKIEEQSQSEKVR PRIDE
PAp00005897 18 49 66 NNALSYYKSEDETEYGCR 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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