AutismKB 2.0

Annotation Detail for SLC8A1


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Basic Information Top
Gene Symbol:SLC8A1 ( DKFZp779F0871,FLJ37694,FLJ43417,MGC119581,NCX1 )
Gene Full Name: solute carrier family 8 (sodium/calcium exchanger), member 1
Band: 2p22.1
Quick LinksEntrez ID:6546; OMIM: 182305; Uniprot ID:NAC1_HUMAN; ENSEMBL ID: ENSG00000183023; HGNC ID: 11068
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
44N-linked (GlcNAc...) (Potential).
160N-linked (GlcNAc...) (Potential).
392Phosphoserine (Potential).
869N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
44N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
160N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
392Phosphoserine (Potential).Swiss-Prot 53.0
869N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8Phosphoserine(IKK)HMM predict
8Phosphoserine(PKG)HMM predict
10Phosphoserine(CDC2)HMM predict
44N-linkedHMM predict
108Phosphoserine(ATM)HMM predict
131N-linkedHMM predict
136N-linkedHMM predict
160N-linkedHMM predict
226Phosphoserine(MAPK)HMM predict
416Phosphotyrosine(EGFR)HMM predict
416Phosphotyrosine(INSR)HMM predict
471Phosphothreonine(CK2)HMM predict
501O-linkedHMM predict
505Phosphoserine(CK1)HMM predict
505Phosphoserine(CK2)HMM predict
523Phosphoserine(CDC2)HMM predict
525O-linkedHMM predict
525O-linkedHMM predict
616Phosphotyrosine(INSR)HMM predict
616Phosphotyrosine(Syk)HMM predict
616Phosphotyrosine(Jak)HMM predict
619N-linkedHMM predict
689Phosphothreonine(CK2)HMM predict
690Phosphoserine(CK1)HMM predict
862Phosphotyrosine(Syk)HMM predict
862Phosphotyrosine(Jak)HMM predict
862PhosphotyrosineHMM predict
869N-linkedHMM predict
874N-linkedHMM predict
903Phosphoserine(CDC2)HMM predict
912O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021097
  • Location:chr2 40192790-40510947
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 40515172 40516241 1069 4759
CTCF G2GSE9613 40512182 40512422 240 1355
CTCF G2GSE9613 40515903 40516174 271 5091
CTCF G2GSE9613 40528896 40529448 552 18225
P300 T30-glioblastomaGSE21026 40514891 40516231 1340 4614
hScc1 G2GSE9613 40528896 40529704 808 18353
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 40177853 40177883 30 14923
Oct1 HelaGSE14283 40177853 40177881 28 14924
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 40195972 40196271 299 0
CTCF G2GSE9613 40199143 40199450 307 0
CTCF G2GSE9613 40293927 40294230 303 0
CTCF G2GSE9613 40294572 40294740 168 0
ER Fulvestrant-MCF7GSE14664 40273540 40273575 35 0
FOXA1 MCF7GSE15244 40273633 40274450 817 0
Nanog ESGSE20650 40414433 40414902 469 0
Nanog hESGSE18292 40414676 40414924 248 0
Oct1 H2O2-HelaGSE14283 40238331 40238360 29 0
Oct1 H2O2-HelaGSE14283 40256818 40256850 32 0
Oct1 H2O2-HelaGSE14283 40275419 40275469 50 0
Oct1 H2O2-HelaGSE14283 40302447 40302490 43 0
Oct1 H2O2-HelaGSE14283 40344605 40344633 28 0
Oct1 HelaGSE14283 40232416 40232464 48 0
Oct1 HelaGSE14283 40256783 40256849 66 0
Oct1 HelaGSE14283 40273529 40273570 41 0
Oct1 HelaGSE14283 40275420 40275470 50 0
Oct1 HelaGSE14283 40344604 40344632 28 0
Oct1 HelaGSE14283 40379069 40379116 47 0
Oct1 HelaGSE14283 40401407 40401445 38 0
RARA MCF7GSE15244 40248640 40249388 748 0
STAT1 HeLaGSE12783 40451976 40454414 2438 0
STAT1 HeLaGSE12783 40475577 40476519 942 0
STAT1 IFNSISSRdata 40452165 40453602 1437 0
TAF HelaGSE8489 40305797 40306171 374 0
TFAP2C MCF7GSE21234 40299357 40299841 484 0
TFAP2C MCF7GSE21234 40311462 40311893 431 0
hScc1 G2GSE9613 40293746 40294717 971 0
p130 SenescentGSE19898 40452282 40452540 258 0
p130 shRbQuiescentGSE19898 40451987 40452724 737 0
p130 shRbSenescentGSE19898 40452372 40452764 392 0
p63 keratinocytesGSE17611 40361589 40362470 881 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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