AutismKB 2.0

Annotation Detail for SCN7A


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Basic Information Top
Gene Symbol:SCN7A ( SCN6A )
Gene Full Name: sodium channel, voltage-gated, type VII, alpha
Band: 2q24.3
Quick LinksEntrez ID:6332; OMIM: 182392; Uniprot ID:SCN7A_HUMAN; ENSEMBL ID: ENSG00000136546; HGNC ID: 10594
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
276N-linked (GlcNAc...) (Potential).
281N-linked (GlcNAc...) (Potential).
309N-linked (GlcNAc...) (Potential).
442Phosphoserine; by PKA (Potential).
777Phosphothreonine; by PKA (Potential).
869Phosphoserine; by PKA (Potential).
905Phosphoserine; by PKA (Potential).
1103N-linked (GlcNAc...) (Potential).
1113N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
276N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
281N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
309N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
442Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
777Phosphothreonine (by PKA) (Potential).Swiss-Prot 53.0
869Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
905Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
1103N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1113N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
86N-linkedHMM predict
210Phosphothreonine(PKC)HMM predict
276N-linkedHMM predict
281N-linkedHMM predict
285N-linkedHMM predict
288Phosphotyrosine(EGFR)HMM predict
309N-linkedHMM predict
426N-linkedHMM predict
486N-linkedHMM predict
487S-palmitoylHMM predict
490S-palmitoylHMM predict
653Phosphotyrosine(EGFR)HMM predict
777Phosphothreonine(PKA)HMM predict
796Phosphoserine(CK1)HMM predict
799Phosphoserine(CK1)HMM predict
817N-linkedHMM predict
821N-linkedHMM predict
823Phosphoserine(ATM)HMM predict
829Phosphoserine(ATM)HMM predict
829Phosphoserine(CDC2)HMM predict
829Phosphoserine(MAPK)HMM predict
872Phosphoserine(IKK)HMM predict
872Phosphoserine(CK2)HMM predict
875O-linkedHMM predict
882Phosphoserine(CK2)HMM predict
906Phosphoserine(PKB)HMM predict
957Phosphotyrosine(EGFR)HMM predict
957SulfotyrosineHMM predict
1103N-linkedHMM predict
1507N-linkedHMM predict
1597Phosphoserine(CK2)HMM predict
1647N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002976
  • Location:chr2 166969784-167051723
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 167058816 167059169 353 7269
Oct1 H2O2-HelaGSE14283 167067110 167067144 34 15404
Oct1 HelaGSE14283 167052150 167052210 60 457
Oct1 HelaGSE14283 167052595 167052623 28 886
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 166975560 166976349 789 0
Oct1 HelaGSE14283 167015363 167015427 64 0
Oct1 HelaGSE14283 167051378 167051408 30 0
TAF HelaGSE8489 166997344 166997539 195 0
TAF k562GSE8489 166984418 166984629 211 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