AutismKB 2.0

Annotation Detail for SCN1A


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Basic Information Top
Gene Symbol:SCN1A ( FEB3,FEB3A,GEFSP2,HBSCI,NAC1,Nav1.1,SCN1,SMEI )
Gene Full Name: sodium channel, voltage-gated, type I, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6323; OMIM: 182389; Uniprot ID:SCN1A_HUMAN; ENSEMBL ID: ENSG00000144285; HGNC ID: 10585
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
211N-linked (GlcNAc...) (Potential).
284N-linked (GlcNAc...) (Potential).
295N-linked (GlcNAc...) (Potential).
301N-linked (GlcNAc...) (Potential).
306N-linked (GlcNAc...) (Potential).
338N-linked (GlcNAc...) (Potential).
601N-linked (GlcNAc...) (Potential).
621N-linked (GlcNAc...) (Potential).
681N-linked (GlcNAc...) (Potential).
892N-linked (GlcNAc...) (Potential).
1064N-linked (GlcNAc...) (Potential).
1080N-linked (GlcNAc...) (Potential).
1146N-linked (GlcNAc...) (Potential).
1378N-linked (GlcNAc...) (Potential).
1392N-linked (GlcNAc...) (Potential).
1403N-linked (GlcNAc...) (Potential).
1788N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
211N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
284N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
295N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
301N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
306N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
338N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
601N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
621N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
681N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
892N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1064N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1080N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1146N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1378N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1392N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1403N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1788N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
84SulfotyrosineHMM predict
291Phosphoserine(CK1)HMM predict
295N-linkedHMM predict
299N-linkedHMM predict
301N-linkedHMM predict
306N-linkedHMM predict
338N-linkedHMM predict
349Phosphotyrosine(INSR)HMM predict
360SulfotyrosineHMM predict
483Phosphoserine(CK1)HMM predict
483Phosphoserine(CK2)HMM predict
487Phosphoserine(IKK)HMM predict
487Phosphoserine(CK1)HMM predict
523Phosphoserine(CK2)HMM predict
525Phosphoserine(CK1)HMM predict
525Phosphoserine(CK2)HMM predict
544Phosphothreonine(PKC)HMM predict
550Phosphoserine(CK1)HMM predict
551Phosphoserine(CDC2)HMM predict
551Phosphoserine(ATM)HMM predict
565Phosphoserine(CDC2)HMM predict
570Phosphoserine(PKA)HMM predict
570Phosphoserine(PKG)HMM predict
570Phosphoserine(PKA)HMM predict
596Phosphoserine(CK2)HMM predict
601N-linkedHMM predict
607Phosphoserine(PKA)HMM predict
607Phosphoserine(PKG)HMM predict
620Phosphoserine(CK1)HMM predict
620Phosphoserine(PKA)HMM predict
620Phosphoserine(IKK)HMM predict
620Phosphoserine(PKG)HMM predict
621N-linkedHMM predict
625Phosphothreonine(PKC)HMM predict
658O-linkedHMM predict
662Phosphoserine(CDC2)HMM predict
662Phosphoserine(MAPK)HMM predict
662Phosphoserine(CDK)HMM predict
662Phosphoserine(IKK)HMM predict
681N-linkedHMM predict
695Phosphoserine(PKA)HMM predict
696Phosphoserine(PKB)HMM predict
737S-palmitoylHMM predict
827SulfotyrosineHMM predict
1063Phosphoserine(CK1)HMM predict
1064N-linkedHMM predict
1080N-linkedHMM predict
1102Phosphotyrosine(Syk)HMM predict
1102Phosphotyrosine(EGFR)HMM predict
1102Phosphotyrosine(INSR)HMM predict
1108N-linkedHMM predict
1133Phosphoserine(CK1)HMM predict
1134Phosphoserine(CK2)HMM predict
1136Phosphoserine(CK2)HMM predict
1146N-linkedHMM predict
1149Phosphoserine(CK2)HMM predict
1150Phosphoserine(CK1)HMM predict
1151Phosphoserine(CK1)HMM predict
1241SulfotyrosineHMM predict
1241Phosphotyrosine(EGFR)HMM predict
1317Phosphothreonine(PKC)HMM predict
1378N-linkedHMM predict
1392N-linkedHMM predict
1403N-linkedHMM predict
1405Phosphothreonine(PKC)HMM predict
1458Phosphotyrosine(INSR)HMM predict
1458Phosphotyrosine(SRC)HMM predict
1507Phosphotyrosine(Syk)HMM predict
1508Phosphotyrosine(Syk)HMM predict
1753O-linkedHMM predict
1897N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006920
  • Location:chr2 166553916-166638394
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
STAT1 HeLaGSE12783 166637985 166639855 1870 526
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 166548203 166548243 40 5694
Oct1 HelaGSE14283 166548202 166548291 89 5670
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 166563445 166563482 37 0
ER Fulvestrant-MCF7GSE14664 166558487 166558567 80 0
Oct1 H2O2-HelaGSE14283 166590198 166590230 32 0
Oct1 H2O2-HelaGSE14283 166599208 166599294 86 0
Oct1 HelaGSE14283 166586089 166586118 29 0
Oct1 HelaGSE14283 166603412 166603444 32 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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