AutismKB 2.0

Annotation Detail for CLDN3


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Basic Information Top
Gene Symbol:CLDN3 ( C7orf1,CPE-R2,CPETR2,HRVP1,RVP1 )
Gene Full Name: claudin 3
Band: 7q11.23
Quick LinksEntrez ID:1365; OMIM: 602910; Uniprot ID:CLD3_HUMAN; ENSEMBL ID: ENSG00000165215; HGNC ID: 2045
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
204Phosphothreonine (By similarity).
214Phosphotyrosine.
219Phosphotyrosine.
Location(AA) Modifications Resource
204Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
136Phosphoserine(IKK)HMM predict
181S-palmitoylHMM predict
182S-palmitoylHMM predict
184S-palmitoylHMM predict
203O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001306
  • Location:chr7 72821263-72822511
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 72828054 72828666 612 5849
CTCF G2GSE9613 72825936 72826211 275 3562
ER E2-MCF7GSE14664 72842338 72842372 34 19844
Fos K562GSE19551 72827141 72827671 530 4895
Myc K562GSE19551 72839427 72839911 484 17158
Oct1 H2O2-HelaGSE14283 72840313 72840345 32 17818
P300 T0-glioblastomaGSE21026 72828320 72828653 333 5975
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 72819221 72819408 187 1949
Myc K562GSE19551 72810770 72811134 364 10312
Oct1 H2O2-HelaGSE14283 72808084 72808121 37 13161
Oct1 HelaGSE14283 72808084 72808121 37 13161
Oct1 HelaGSE14283 72811261 72811337 76 9965
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 72821158 72822452 1294 0
hScc1 BcellGSE12603 72821644 72822601 957 0
Validated miRNA targets Top
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


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