AutismKB 2.0

Annotation Detail for CLCN3


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Basic Information Top
Gene Symbol:CLCN3 ( CLC3,ClC-3 )
Gene Full Name: chloride channel 3
Band: 4q33
Quick LinksEntrez ID:1182; OMIM: 600580; Uniprot ID:CLCN3_HUMAN; ENSEMBL ID: ENSG00000109572; HGNC ID: 2021
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
177N-linked (GlcNAc...) (Potential).
242Selectivity filter part_1 (By
284Selectivity filter part_2 (By
451N-linked (GlcNAc...) (Potential).
479N-linked (GlcNAc...) (Potential).
529Selectivity filter part_3 (By
Location(AA) Modifications Resource
8N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
51Phosphoserine (CaM-KIIalpha)Phospho.ELM 6.0
119N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
393N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
421N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
618N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
629N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8N-linkedHMM predict
51Phosphoserine(PKG)HMM predict
119N-linkedHMM predict
232S-palmitoylHMM predict
233S-palmitoylHMM predict
362Phosphoserine(PKG)HMM predict
362Phosphoserine(PKB)HMM predict
363Phosphothreonine(PKA)HMM predict
421N-linkedHMM predict
492SulfotyrosineHMM predict
516Phosphotyrosine(Abl)HMM predict
532Phosphothreonine(PKA)HMM predict
548Phosphotyrosine(INSR)HMM predict
558Phosphothreonine(PKC)HMM predict
572Phosphotyrosine(EGFR)HMM predict
618N-linkedHMM predict
629N-linkedHMM predict
633Phosphotyrosine(EGFR)HMM predict
634N-linkedHMM predict
641Phosphoserine(CK1)HMM predict
684Phosphoserine(MAPK)HMM predict
689PhosphoserineHMM predict
710Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001829
  • Location:chr4 170778296-170878730
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 170776854 170778299 1445 720
H3ac HepG2E 170777115 170777767 652 856
Myc hESGSE17917 170777319 170777527 208 874
PHF8 293TGSE20725 170777708 170778670 962 108
hScc1 BcellGSE12603 170777876 170778241 365 238
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 170792631 170792921 290 0
Gata1 K562GSE18868 170817550 170818221 671 0
Gata2 K562GSE18868 170817651 170818094 443 0
H3K4me3 colorectalcancer 170778345 170778981 636 0
H3ac HepG2E 170778205 170779101 896 0
H3ac HepG2E 170779428 170780074 646 0
Myc K562GSE19551 170836322 170836495 173 0
Nanog hESGSE18292 170836319 170836514 195 0
P300 T30-glioblastomaGSE21026 170817424 170818494 1070 0
PolII HeLaGSE12783 170777008 170780680 3672 0
PolII HeLaGSE12783 170816989 170818740 1751 0
Rb GrowingGSE19898 170817735 170817848 113 0
TAF HelaGSE8489 170778414 170780038 1624 0
TAF HelaGSE8489 170817022 170818107 1085 0
p130 QuiescentGSE19898 170817688 170817973 285 0
p130 SenescentGSE19898 170778201 170778482 281 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7c hsa-let-7c 21 18006822
hsa-let-7c* hsa-let-7c 21 18006822
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-10a hsa-mir-10a 17 18006822
hsa-miR-10a* hsa-mir-10a 17 18006822
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-144 hsa-mir-144 17 18006822
hsa-miR-144* hsa-mir-144 17 18006822
hsa-miR-150 hsa-mir-150 19 18006822
hsa-miR-150* hsa-mir-150 19 18006822
hsa-miR-155 hsa-mir-155 21 18006822
hsa-miR-155* hsa-mir-155 21 18006822
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
129 Unknown MicroArray miR-1 CLCN3 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000109572 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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