AutismKB 2.0

Annotation Detail for C4BPB


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C4BPB ( C4BP )
Gene Full Name: complement component 4 binding protein, beta
Band: 1q32.1
Quick LinksEntrez ID:725; OMIM: 120831; Uniprot ID:C4BPB_HUMAN; ENSEMBL ID: ENSG00000123843; HGNC ID: 1328
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 
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult42 / 193912121
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) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal75 / 336030722
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 tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix6 / 48171124
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine8 / 23447234
kidney0 / 2117770 
larynx0 / 241450 
liver47 / 207743226
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208209_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.05
Adipocyte5.05
AdrenalCortex5.7
Adrenalgland4.45
Amygdala5.2
Appendix5.55
AtrioventricularNode4.35
BDCA4+_DentriticCells5.35
Bonemarrow5.35
BronchialEpithelialCells4.95
CD105+_Endothelial5.15
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid6.5
CD34+6.2
CD4+_Tcells5.35
CD56+_NKCells5.85
CD71+_EarlyErythroid4.85
CD8+_Tcells4.8
CardiacMyocytes7.3
Caudatenucleus4.6
Cerebellum4.2
CerebellumPeduncles5.95
CiliaryGanglion3.9
CingulateCortex5.3
Colorectaladenocarcinoma5.15
DorsalRootGanglion4.2
FetalThyroid5
Fetalbrain5
Fetalliver15
Fetallung4.1
GlobusPallidus3.9
Heart7.4
Hypothalamus5.4
Kidney4.35
Leukemia_chronicMyelogenousK-5624.6
Leukemia_promyelocytic-HL-604.55
Leukemialymphoblastic(MOLT-4)4.05
Liver49.6
Lung5.55
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.7
Lymphoma_burkitts(Raji)7.55
MedullaOblongata4.6
OccipitalLobe4.55
OlfactoryBulb4.05
Ovary3.7
Pancreas4.3
PancreaticIslet12.75
ParietalLobe5.6
Pituitary5.9
Placenta5.3
Pons4.95
PrefrontalCortex6.25
Prostate5.95
Salivarygland4.2
SkeletalMuscle6.5
Skin4.3
SmoothMuscle5.8
Spinalcord5.4
SubthalamicNucleus4.8
SuperiorCervicalGanglion6.4
TemporalLobe4.75
Testis4.4
TestisGermCell4.15
TestisIntersitial4.3
TestisLeydigCell5.15
TestisSeminiferousTubule4.35
Thalamus5.25
Thymus3.95
Thyroid6.3
Tongue5.2
Tonsil5
Trachea4.25
TrigeminalGanglion5.5
Uterus4.1
UterusCorpus4.85
WholeBlood5.55
Wholebrain4.15
colon5.15
pineal_day6.34
pineal_night6.2
retina6.175
small_intestine4.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15565_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
Amygdala1.97 ± 0.94
Basal Forebrain1.56 ± 0.18
Basal Part of Pons1.27 ± 0.34
Cerebellar Cortex1.4 ± 0.68
Cerebellar Nuclei1.82 ± 0.69
Claustrum2.4 ± 0.8
Epithalamus1.33 ± 0.66
Frontal Lobe1.44 ± 0.66
Globus Pallidus2.15 ± 0.33
Hypothalamus1.66 ± 0.66
Insula1.53 ± 0.55
Limbic Lobe1.57 ± 0.59
Mesencephalon1.72 ± 0.67
Myelencephalon1.59 ± 0.64
Occipital Lobe1.6 ± 0.58
Parietal Lobe1.55 ± 0.64
Pontine Tegmentum1.61 ± 0.63
Striatum1.76 ± 0.5
Subthalamus1.72 ± 0.64
Temporal Lobe1.44 ± 0.58
Thalamus1.53 ± 0.54
White Matter2.11 ± 0.39
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00025077 10 68 77 EWDNTTTECR 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