AutismKB 2.0

Annotation Detail for CLDN5


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Basic Information Top
Gene Symbol:CLDN5 ( AWAL,BEC1,CPETRL1,TMVCF )
Gene Full Name: claudin 5
Band: 22q11.21
Quick LinksEntrez ID:7122; OMIM: 602101; Uniprot ID:CLD5_HUMAN; ENSEMBL ID: ENSG00000184113; HGNC ID: 2047
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
212Phosphotyrosine.
217Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
84Phosphothreonine(PKC)HMM predict
106O-linkedHMM predict
151Phosphoserine(ATM)HMM predict
155Phosphoserine(ATM)HMM predict
179S-palmitoylHMM predict
207Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003277
  • Location:chr22 17890549-17892859
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Breast-CancerGSE22609 17895592 17896077 485 2975
RARA MCF7GSE15244 17912257 17912568 311 19553
RARG MCF7GSE15244 17912216 17912568 352 19533
TFAP2C MCF7GSE21234 17911531 17912196 665 19004
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 17889993 17890491 498 308
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 17891134 17891704 570 0
hScc1 BcellGSE12603 17890930 17893083 2153 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