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
Post Translation Modification Top
Location(AA) Modification
23Phosphoserine; by GSK3-beta.
29Phosphoserine; by GSK3-beta.
33Phosphoserine; by GSK3-beta.
37Phosphoserine; by GSK3-beta.
41Phosphothreonine; by GSK3-beta.
45Phosphoserine.
86Phosphotyrosine; by CSK.
191Phosphoserine (By similarity).
551Phosphothreonine.
552Phosphoserine.
556Phosphothreonine.
654Phosphotyrosine; by CSK.
675Phosphoserine.
Location(AA) Modifications Resource
23Phosphoserine (by GSK3-beta).Swiss-Prot 53.0
29Phosphoserine (by GSK3-beta).Swiss-Prot 53.0
33Phosphoserine (by GSK3-beta).Swiss-Prot 53.0
33Phosphoserine (GSK-3
37Phosphoserine (by GSK3-beta).Swiss-Prot 53.0
37Phosphoserine (GSK-3
41Phosphothreonine (by GSK3-beta).Swiss-Prot 53.0
41Phosphothreonine (GSK-3
45Phosphoserine.Swiss-Prot 53.0
45Phosphoserine (CK1
86Phosphotyrosine (Src)Phospho.ELM 6.0
86Phosphotyrosine (by CSK).Swiss-Prot 53.0
102Phosphothreonine (CK2
112Phosphothreonine (CK2
142Phosphotyrosine (Fyn)Phospho.ELM 6.0
191Phosphoserine (By similarity).Swiss-Prot 53.0
393Phosphothreonine (CK2
551Phosphothreonine (By similarity).Swiss-Prot 53.0
552Phosphoserine (By similarity).Swiss-Prot 53.0
556Phosphothreonine (By similarity).Swiss-Prot 53.0
654Phosphotyrosine (by CSK).Swiss-Prot 53.0
654Phosphotyrosine (Src)Phospho.ELM 6.0
675Phosphoserine.Swiss-Prot 53.0
675PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
40O-linkedHMM predict
41O-linkedHMM predict
45O-linkedHMM predict
64SulfotyrosineHMM predict
71Phosphoserine(ATM)HMM predict
184Phosphoserine(CK2)HMM predict
220N-linkedHMM predict
287N-linkedHMM predict
290N-linkedHMM predict
387N-linkedHMM predict
426N-linkedHMM predict
430N-linkedHMM predict
431N-linkedHMM predict
552Phosphoserine(PKA)HMM predict
552Phosphoserine(PKB)HMM predict
552PhosphoserineHMM predict
691N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001904
  • Location:chr3 41216015-41256937
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41215264 41216254 990 257
ETS1 JurkatGSE17954 41215498 41216332 834 101
FOXA1 MCF7GSE15244 41197527 41198139 612 18183
KLF4 hESGSE17917 41215854 41216060 206 59
Myc K562GSE19551 41215676 41216280 604 38
NFkBII GM15510GSE19485 41215459 41216522 1063 25
P300 T0-glioblastomaGSE21026 41215589 41216319 730 62
P300 T30-glioblastomaGSE21026 41215641 41216369 728 11
PHF8 293TGSE20725 41215089 41216673 1584 135
PHF8 HeLaGSE20725 41215263 41216690 1427 39
PHF8 Hs68minusFBSGSE20725 41215323 41216455 1132 127
Pol2 GM12878GSE19551 41215669 41216349 680 7
Rb SenescentGSE19898 41215810 41216109 299 56
TAF k562GSE8489 41213651 41214812 1161 1784
TAFII hESGSE17917 41215603 41216177 574 126
VDR GM10855-UnstimGSE22484 41214750 41216452 1702 415
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41261292 41261724 432 4571
CTCF G2GSE9613 41266012 41266153 141 9145
TFAP2C MCF7GSE21234 41257747 41258168 421 1020
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 41216618 41218080 1462 0
H3ac HepG2E 41216618 41217675 1057 0
NFkBII GM10847GSE19485 41215289 41217755 2466 0
PHF8 Hs68plusFBSGSE20725 41215150 41217185 2035 0
Rb SenescentGSE19898 41241434 41242405 971 0
Rb SenescentGSE19898 41249772 41250446 674 0
Rb SenescentGSE19898 41252156 41252404 248 0
Rb SenescentGSE19898 41255583 41255903 320 0
Rb shRbSenescenceGSE19898 41240896 41241307 411 0
Rb shRbSenescenceGSE19898 41241389 41242397 1008 0
Rb shRbSenescenceGSE19898 41249778 41250423 645 0
Rb shRbSenescenceGSE19898 41250521 41250911 390 0
Rb shRbSenescenceGSE19898 41252182 41252365 183 0
Rb shRbSenescenceGSE19898 41252803 41253265 462 0
Rb shRbSenescenceGSE19898 41254440 41254637 197 0
Rb shRbSenescenceGSE19898 41255570 41255886 316 0
TAF k562GSE8489 41216727 41217458 731 0
VDR GM10861-stimGSE22484 41215405 41217914 2509 0
hScc1 G2GSE9613 41215699 41216808 1109 0
p130 QuiescentGSE19898 41240991 41241298 307 0
p130 QuiescentGSE19898 41243698 41243903 205 0
p130 QuiescentGSE19898 41249806 41249951 145 0
p130 QuiescentGSE19898 41250038 41250416 378 0
p130 QuiescentGSE19898 41250601 41250830 229 0
p130 QuiescentGSE19898 41252736 41253291 555 0
p130 SenescentGSE19898 41215876 41216156 280 0
p130 SenescentGSE19898 41240948 41241325 377 0
p130 SenescentGSE19898 41241421 41242373 952 0
p130 SenescentGSE19898 41249764 41250492 728 0
p130 SenescentGSE19898 41250562 41250935 373 0
p130 SenescentGSE19898 41252152 41252415 263 0
p130 SenescentGSE19898 41252786 41253268 482 0
p130 SenescentGSE19898 41255418 41255875 457 0
p130 shRbQuiescentGSE19898 41250053 41250920 867 0
p130 shRbSenescentGSE19898 41215881 41216255 374 0
p130 shRbSenescentGSE19898 41240978 41241315 337 0
p130 shRbSenescentGSE19898 41249756 41250470 714 0
p130 shRbSenescentGSE19898 41250568 41250845 277 0
p130 shRbSenescentGSE19898 41252814 41253191 377 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-122 hsa-mir-122 18 19607815
hsa-miR-122* hsa-mir-122 18 19607815
hsa-miR-125a-3p hsa-mir-125a 19 20937217
hsa-miR-125a-3p hsa-mir-125a 19 19701500
hsa-miR-125a-5p hsa-mir-125a 19 20937217
hsa-miR-125a-5p hsa-mir-125a 19 19701500
hsa-miR-145 hsa-mir-145 5 19996288
hsa-miR-145* hsa-mir-145 5 19996288
hsa-miR-148a hsa-mir-148a 7 21358093
hsa-miR-148a hsa-mir-148a 7 19701500
hsa-miR-148a* hsa-mir-148a 7 21358093
hsa-miR-148a* hsa-mir-148a 7 19701500
hsa-miR-150 hsa-mir-150 19 20937217
hsa-miR-150 hsa-mir-150 19 19701500
hsa-miR-150* hsa-mir-150 19 20937217
hsa-miR-150* hsa-mir-150 19 19701500
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-183 hsa-mir-183 7 19047896
hsa-miR-183* hsa-mir-183 7 19047896
hsa-miR-192 hsa-mir-192 11 19047896
hsa-miR-192* hsa-mir-192 11 19047896
hsa-miR-193a-3p hsa-mir-193a 17 21358093
hsa-miR-193a-5p hsa-mir-193a 17 21358093
hsa-miR-200a hsa-mir-200a 1 19931509
hsa-miR-200a hsa-mir-200a 1 19703993
hsa-miR-200a* hsa-mir-200a 1 19931509
hsa-miR-200a* hsa-mir-200a 1 19703993
hsa-miR-214 hsa-mir-214 1 19701500
hsa-miR-214* hsa-mir-214 1 19701500
hsa-miR-224 hsa-mir-224 X 21358093
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
hsa-miR-517* hsa-mir-517a 19 21324318
hsa-miR-517a hsa-mir-517a 19 21324318
hsa-miR-520c-3p hsa-mir-520c 19 21324318
hsa-miR-520c-5p hsa-mir-520c 19 21324318
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
949 Unknown pSILAC miR-155 CTNNB1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000168036 n_a n_a n_a "lymphocyte, leukocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
17969 mRNA CTNNB1 chr3 41216015 41256938 228 EST chr3 41237849 41242069Sense/Antisense (SA) pairs

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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