AutismKB 2.0

Annotation Detail for SLC12A1


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Basic Information Top
Gene Symbol:SLC12A1 ( BSC1,MGC48843,NKCC2 )
Gene Full Name: solute carrier family 12 (sodium/potassium/chloride transporters), member 1
Band: 15q21.1
Quick LinksEntrez ID:6557; OMIM: 600839; Uniprot ID:S12A1_HUMAN; ENSEMBL ID: ENSG00000074803; HGNC ID: 10910
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
446N-linked (GlcNAc...) (Potential).
456N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
446N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
456N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8N-linkedHMM predict
32Phosphoserine(CK2)HMM predict
45SulfotyrosineHMM predict
120Phosphoserine(IKK)HMM predict
145Phosphothreonine(CDK)HMM predict
145Phosphothreonine(MAPK)HMM predict
229O-linkedHMM predict
245Phosphotyrosine(INSR)HMM predict
361Phosphotyrosine(EGFR)HMM predict
375Phosphothreonine(PKC)HMM predict
446N-linkedHMM predict
456N-linkedHMM predict
477Phosphotyrosine(SRC)HMM predict
502O-linkedHMM predict
504O-linkedHMM predict
511O-linkedHMM predict
528Phosphotyrosine(Syk)HMM predict
693Phosphothreonine(PKC)HMM predict
796Phosphotyrosine(INSR)HMM predict
868N-linkedHMM predict
873Phosphothreonine(CDK)HMM predict
873Phosphothreonine(CDC2)HMM predict
879Phosphoserine(IKK)HMM predict
881N-linkedHMM predict
931Phosphothreonine(PKC)HMM predict
1034Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000338
  • Location:chr15 46287189-46382415
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 46284042 46284076 34 3131
NRSF mAbJurkat 46273792 46275436 1644 12576
Oct1 HelaGSE14283 46285391 46285418 27 1785
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p63 keratinocytesGSE17611 46389168 46389784 616 7061
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46365293 46365524 231 0
CTCF CD4SISSRdata 46365293 46365524 231 0
CTCF G2GSE9613 46329980 46330344 364 0
Oct1 H2O2-HelaGSE14283 46289947 46289974 27 0
Oct1 H2O2-HelaGSE14283 46337022 46337058 36 0
Oct1 H2O2-HelaGSE14283 46350928 46350954 26 0
Oct1 HelaGSE14283 46337023 46337057 34 0
Oct1 HelaGSE14283 46350927 46350960 33 0
P300 T30-glioblastomaGSE21026 46365125 46365828 703 0
Rb shRbSenescenceGSE19898 46365049 46365261 212 0
hScc1 BcellGSE12603 46290728 46291056 328 0
hScc1 BcellGSE12603 46330120 46330344 224 0
hScc1 BcellGSE12603 46365232 46365453 221 0
hScc1 CdLSGSE12603 46329980 46330548 568 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-141 hsa-mir-141 12 20420713
hsa-miR-141* hsa-mir-141 12 20420713
hsa-miR-142-3p hsa-mir-142 17 20420713
hsa-miR-149 hsa-mir-149 2 20420713
hsa-miR-149* hsa-mir-149 2 20420713
hsa-miR-185 hsa-mir-185 22 20420713
hsa-miR-185* hsa-mir-185 22 20420713
hsa-miR-200a* hsa-mir-200a 1 20420713
hsa-miR-200c hsa-mir-200c 12 20420713
hsa-miR-200c* hsa-mir-200c 12 20420713
hsa-miR-21 hsa-mir-21 17 20420713
hsa-miR-21* hsa-mir-21 17 20420713
hsa-miR-224 hsa-mir-224 X 20420713
hsa-miR-34a hsa-mir-34a 1 20420713
hsa-miR-34a* hsa-mir-34a 1 20420713
No data
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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