AutismKB 2.0

Annotation Detail for CLDN12


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Basic Information Top
Gene Symbol:CLDN12 ( - )
Gene Full Name: claudin 12
Band: 7q21.13
Quick LinksEntrez ID:9069; OMIM: 611232; Uniprot ID:CLD12_HUMAN; ENSEMBL ID: ENSG00000157224; HGNC ID: 2034
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
228Phosphoserine (By similarity).
231Phosphoserine.
Location(AA) Modifications Resource
228Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
47N-linkedHMM predict
178O-linkedHMM predict
220Phosphotyrosine(INSR)HMM predict
220Phosphotyrosine(SRC)HMM predict
221Phosphoserine(ATM)HMM predict
224Phosphotyrosine(Syk)HMM predict
231Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012129
  • Location:chr7 89870731-89883201
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 89868178 89868251 73 2517
TFAP2C MCF7GSE21234 89870303 89870927 624 117
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 89895002 89895253 251 11926
Oct1 H2O2-HelaGSE14283 89893450 89893487 37 10267
Oct1 H2O2-HelaGSE14283 89903084 89903115 31 19898
Oct1 HelaGSE14283 89903086 89903144 58 19914
RNAII Tamoxifen-MCF7GSE14664 89893441 89893493 52 10266
TFAP2C MCF7GSE21234 89897729 89898204 475 14765
hScc1 BcellGSE12603 89894966 89895253 287 11908
hScc1 CdLSGSE12603 89894933 89895253 320 11892
hScc1 G2GSE9613 89894856 89895253 397 11853
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 89880254 89880432 178 0
CTCF CD4SISSRdata 89880254 89880432 178 0
CTCF G2GSE9613 89870607 89870868 261 0
CTCF G2GSE9613 89879973 89880646 673 0
ETS1 JurkatGSE17954 89870075 89871448 1373 0
hScc1 G2GSE9613 89880079 89880614 535 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