AutismKB 2.0

Annotation Detail for CLCN5


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Basic Information Top
Gene Symbol:CLCN5 ( CLC5,CLCK2,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2,hClC-K2 )
Gene Full Name: chloride channel 5
Band: Xp11.23
Quick LinksEntrez ID:1184; OMIM: 300008; Uniprot ID:CLCN5_HUMAN; ENSEMBL ID: ENSG00000171365; HGNC ID: 2023
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
171Selectivity filter part_1 (By
213Selectivity filter part_2 (By
457Selectivity filter part_3 (By
Location(AA) Modifications Resource
Location(AA) Modification Resource
38N-linkedHMM predict
122C-linkedHMM predict
291Phosphothreonine(PKC)HMM predict
349Phosphothreonine(PKA)HMM predict
350Phosphothreonine(PKA)HMM predict
376Phosphotyrosine(INSR)HMM predict
408N-linkedHMM predict
488Phosphoserine(IKK)HMM predict
502Phosphotyrosine(Abl)HMM predict
518Phosphothreonine(PKA)HMM predict
534Phosphotyrosine(INSR)HMM predict
544Phosphothreonine(PKC)HMM predict
558Phosphotyrosine(EGFR)HMM predict
616O-linkedHMM predict
617Phosphotyrosine(SRC)HMM predict
666Phosphoserine(IKK)HMM predict
694Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000084
  • Location:chrX 49718954-49750631
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 49700261 49700306 45 18671
USF1 HepG2E 49717574 49717963 389 1186
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49751623 49752286 663 1323
CTCF G2GSE9613 49753327 49753508 181 2786
hScc1 G2GSE9613 49751509 49752324 815 1285
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 49728968 49729590 622 0
CTCF G2GSE9613 49733015 49733249 234 0
Nanog hESGSE18292 49718966 49719490 524 0
Sox2 hESGSE18292 49719135 49719407 272 0
USF1 HepG2E 49718689 49719844 1155 0
USF2 HepG2E 49718689 49719249 560 0
hScc1 BcellGSE12603 49732947 49733249 302 0
hScc1 CdLSGSE12603 49732630 49733249 619 0
hScc1 G2GSE9613 49732838 49733249 411 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