AutismKB 2.0

Annotation Detail for SLC12A3


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Basic Information Top
Gene Symbol:SLC12A3 ( FLJ96318,NCCT,TSC )
Gene Full Name: solute carrier family 12 (sodium/chloride transporters), member 3
Band: 16q13
Quick LinksEntrez ID:6559; OMIM: 600968; Uniprot ID:S12A3_HUMAN; ENSEMBL ID: ENSG00000070915; HGNC ID: 10912
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
406N-linked (GlcNAc...) (Potential).
426N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
406N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
426N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphothreonine(MAPK)HMM predict
28Phosphoserine(ATM)HMM predict
46Phosphothreonine(CDK)HMM predict
66Phosphothreonine(PKC)HMM predict
72N-linkedHMM predict
124Phosphothreonine(CK2)HMM predict
124Phosphothreonine(PKC)HMM predict
182O-linkedHMM predict
183O-linkedHMM predict
204Phosphotyrosine(INSR)HMM predict
392O-linkedHMM predict
406N-linkedHMM predict
426N-linkedHMM predict
444Phosphotyrosine(Syk)HMM predict
465O-linkedHMM predict
555Phosphoserine(CDC2)HMM predict
668N-linkedHMM predict
857Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000339
  • Location:chr16 55456642-55504849
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55454005 55454227 222 2527
Myc K562GSE19551 55449873 55450219 346 6597
TFAP2C MCF7GSE21234 55452500 55453228 728 3779
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T0-glioblastomaGSE21026 55507119 55507602 483 2511
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55458323 55458594 271 0
CTCF G2GSE9613 55462798 55463079 281 0
ER Breast-CancerGSE22609 55460995 55461445 450 0
NFkBII GM12878GSE19485 55462099 55463302 1203 0
NRSF mAbJurkat 55472436 55472630 194 0
TFAP2C MCF7GSE21234 55462597 55463208 611 0
TFAP2C MCF7GSE21234 55466118 55466841 723 0
TFAP2C MCF7GSE21234 55466869 55467121 252 0
TFAP2C MCF7GSE21234 55467566 55468666 1100 0
TFAP2C MCF7GSE21234 55485751 55486312 561 0
hScc1 BcellGSE12603 55458524 55459251 727 0
hScc1 BcellGSE12603 55461102 55461282 180 0
hScc1 CdLSGSE12603 55461102 55461318 216 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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