AutismKB 2.0

Annotation Detail for CLDN1


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Basic Information Top
Gene Symbol:CLDN1 ( CLD1,ILVASC,SEMP1 )
Gene Full Name: claudin 1
Band: 3q28
Quick LinksEntrez ID:9076; OMIM: 603718; Uniprot ID:CLD1_HUMAN; ENSEMBL ID: ENSG00000163347; HGNC ID: 2032
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
205Phosphoserine (By similarity).
206Phosphoserine (By similarity).
Location(AA) Modifications Resource
205Phosphoserine (By similarity).Swiss-Prot 53.0
206Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
56Phosphoserine(IKK)HMM predict
72N-linkedHMM predict
149Phosphotyrosine(Syk)HMM predict
183S-palmitoylHMM predict
184S-palmitoylHMM predict
186S-palmitoylHMM predict
195O-linkedHMM predict
195O-linkedHMM predict
195O-linkedHMM predict
199TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021101
  • Location:chr3 191506196-191522908
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 191522491 191523916 1425 295
CTCF G2GSE9613 191537721 191537937 216 14921
hScc1 BcellGSE12603 191522795 191523120 325 49
hScc1 CdLSGSE12603 191522713 191523410 697 153
hScc1 G2GSE9613 191522517 191523815 1298 258
p63 keratinocytesGSE17611 191526384 191527125 741 3846
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 191497341 191497590 249 8731
NFkBII GM12892GSE19485 191490147 191491324 1177 15461
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 191519253 191519415 162 0
FOXA1 MCF7GSE15244 191506942 191508289 1347 0
H3ac HepG2E 191518415 191522344 3929 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-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-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
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
948 Unknown pSILAC miR-155 CLDN1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000163347 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia"
Cis-Nats regulation 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