AutismKB 2.0

Annotation Detail for CTNNB1


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Basic Information Top
Gene Symbol:CTNNB1 ( CTNNB,DKFZp686D02253,FLJ25606,FLJ37923 )
Gene Full Name: catenin (cadherin-associated protein), beta 1, 88kDa
Band: 3p22.1
Quick LinksEntrez ID:1499; OMIM: 116806; Uniprot ID:CTNB1_HUMAN; ENSEMBL ID: ENSG00000168036; HGNC ID: 2514
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 body25 / 70761353
blastocyst8 / 62319128
fetus76 / 564012134
neonate3 / 3109796
infant2 / 2362084
juvenile5 / 5555689
adult404 / 1939121208
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma6 / 17475343
breast (mammary gland) tumor26 / 94178276
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor58 / 114246507
esophageal tumor2 / 17290115
gastrointestinal tumor16 / 119369134
germ cell tumor66 / 263845250
glioma5 / 10688346
head and neck tumor112 / 136302821
kidney tumor3 / 6895943
leukemia11 / 95842114
liver tumor10 / 96359103
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia16 / 97250164
normal568 / 3360307169
ovarian tumor7 / 7668291
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer18 / 102680175
retinoblastoma1 / 4635621
skin tumor12 / 12494996
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites5 / 40015124
bladder15 / 29757504
blood12 / 12347897
bone6 / 7165583
bone marrow2 / 4880140
brain351 / 1100989318
cervix2 / 4817141
connective tissue15 / 149255100
ear7 / 16212431
embryonic tissue42 / 215722194
esophagus2 / 2020998
eye13 / 21105461
heart6 / 8962666
intestine74 / 234472315
kidney18 / 21177784
larynx8 / 24145331
liver18 / 20774386
lung34 / 336974100
lymph2 / 4427045
lymph node8 / 9161087
mammary gland48 / 153271313
mouth70 / 670521043
muscle5 / 10771546
nerve1 / 1576863
ovary8 / 10205178
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx5 / 41328120
pituitary gland1 / 1658560
placenta35 / 280825124
prostate28 / 189345147
salivary gland2 / 2015599
skin21 / 21057499
spleen6 / 53952111
stomach12 / 96619124
testis75 / 330442226
thymus44 / 81131542
thyroid32 / 47473674
tonsil0 / 169990 
trachea66 / 524131259
umbilical cord2 / 13680146
uterus56 / 232878240
vascular16 / 51780308
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201533_at
Cell line Expression level Expression bar
721_B_lymphoblasts291.9
Adipocyte121.4
AdrenalCortex119.75
Adrenalgland114.65
Amygdala105.85
Appendix99.55
AtrioventricularNode49.9
BDCA4+_DentriticCells106.4
Bonemarrow36
BronchialEpithelialCells448.75
CD105+_Endothelial75.65
CD14+_Monocytes129.35
CD19+_BCells(neg._sel.)83.6
CD33+_Myeloid186.75
CD34+166.4
CD4+_Tcells111.85
CD56+_NKCells210.2
CD71+_EarlyErythroid23.7
CD8+_Tcells98.45
CardiacMyocytes157
Caudatenucleus80.5
Cerebellum71
CerebellumPeduncles186.75
CiliaryGanglion63.85
CingulateCortex96.75
Colorectaladenocarcinoma432.7
DorsalRootGanglion53.2
FetalThyroid122.4
Fetalbrain136.15
Fetalliver68.35
Fetallung128.15
GlobusPallidus54.2
Heart24.65
Hypothalamus180.7
Kidney75.6
Leukemia_chronicMyelogenousK-56267.45
Leukemia_promyelocytic-HL-6070.4
Leukemialymphoblastic(MOLT-4)50.6
Liver92.8
Lung88.8
Lymphnode65.45
Lymphoma_burkitts(Daudi)137.75
Lymphoma_burkitts(Raji)83.75
MedullaOblongata118.7
OccipitalLobe113.05
OlfactoryBulb124.15
Ovary68.9
Pancreas338.15
PancreaticIslet123.25
ParietalLobe110.5
Pituitary189.55
Placenta286.5
Pons79.6
PrefrontalCortex214.55
Prostate159.15
Salivarygland92.75
SkeletalMuscle55.3
Skin61.1
SmoothMuscle200.3
Spinalcord111.8
SubthalamicNucleus85.2
SuperiorCervicalGanglion84.7
TemporalLobe76.55
Testis61.1
TestisGermCell123.15
TestisIntersitial64.4
TestisLeydigCell85.5
TestisSeminiferousTubule73.3
Thalamus150.7
Thymus86.6
Thyroid115.75
Tongue79.25
Tonsil87.35
Trachea96.4
TrigeminalGanglion105.4
Uterus319.45
UterusCorpus96.2
WholeBlood195.8
Wholebrain87.85
colon449.5
pineal_day184.4
pineal_night188.14
retina283.15
small_intestine385.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_214_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
Amygdala8.29 ± 0.34
Basal Forebrain8.15 ± 0.19
Basal Part of Pons8.02 ± 0.22
Cerebellar Cortex8.72 ± 0.18
Cerebellar Nuclei8.04 ± 0.23
Claustrum7.94 ± 0.24
Epithalamus8.81 ± 0.22
Frontal Lobe8.17 ± 0.32
Globus Pallidus8.06 ± 0.23
Hypothalamus8.36 ± 0.25
Insula8.44 ± 0.24
Limbic Lobe8.41 ± 0.3
Mesencephalon8.31 ± 0.3
Myelencephalon8.35 ± 0.36
Occipital Lobe8.74 ± 0.31
Parietal Lobe8.41 ± 0.34
Pontine Tegmentum8.35 ± 0.32
Striatum7.96 ± 0.18
Subthalamus8.03 ± 0.04
Temporal Lobe8.46 ± 0.28
Thalamus8.7 ± 0.3
White Matter8.26 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ctnnb1CBCerebellum50.11
92.07
Ctnnb1CTXCerebral cortex95.92
93.8
Ctnnb1HIPHippocampal region90.77
100
Ctnnb1HPFHippocampal formation97.4
100
Ctnnb1HYHypothalamus93.2
83.42
Ctnnb1LSXLateral septal complex100
90.01
Ctnnb1MBMidbrain82.05
84.07
Ctnnb1MYMedulla60.75
69.79
Ctnnb1OLFOlfactory bulb100
100
Ctnnb1PPons57.65
62.89
Ctnnb1PALPallidum84.59
86.72
Ctnnb1RHPRetrohippocampal region100
100
Ctnnb1sAMYStriatum-like amygdalar nuclei89.84
82.99
Ctnnb1STRStriatum80.65
67.23
Ctnnb1STRdStriatum dorsal region62.68
50.56
Ctnnb1STRvStriatum ventral region100
91.88
Ctnnb1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CTNB1_HUMAN_125 9 125 133 LAEPSQMLK PRIDE
CTNB1_HUMAN_191 10 191 200 SPQMVSAIVR PRIDE
CTNB1_HUMAN_2 17 2 18 ATQADLMELDMAMEPDR PRIDE
CTNB1_HUMAN_242 28 242 269 MLGSPVDSVLFYAITTLHNLLLHQEGAK PRIDE
CTNB1_HUMAN_313 17 313 329 LIILASGGPQALVNIMR PRIDE
CTNB1_HUMAN_475 12 475 486 HQEAEMAQNAVR PRIDE
CTNB1_HUMAN_96 29 96 124 AAMFPETLDEGMQIPSTQFDAAHPTNVQR PRIDE
PAp00000344 16 454 469 AGDREDITEPAICALR 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