AutismKB 2.0

Annotation Detail for SCNN1D


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Basic Information Top
Gene Symbol:SCNN1D ( ENaCd,ENaCdelta,MGC149710,MGC149711,SCNED,dNaCh )
Gene Full Name: sodium channel, nonvoltage-gated 1, delta
Band: 1p36.33
Quick LinksEntrez ID:6339; OMIM: 601328; Uniprot ID:SCNND_HUMAN; ENSEMBL ID: ENSG00000162572; HGNC ID: 10601
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
166N-linked (GlcNAc...) (Potential).
211N-linked (GlcNAc...) (Potential).
384N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
166N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
211N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
384N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
27Phosphothreonine(PKC)HMM predict
27PhosphothreonineHMM predict
27Phosphothreonine(CDK)HMM predict
27Phosphothreonine(MAPK)HMM predict
27Phosphothreonine(CDC2)HMM predict
35O-linkedHMM predict
66N-linkedHMM predict
85Phosphothreonine(PKC)HMM predict
142PhosphoserineHMM predict
142Phosphoserine(PKA)HMM predict
142Phosphoserine(CDC2)HMM predict
175Phosphoserine(PKG)HMM predict
211N-linkedHMM predict
254Phosphoserine(ATM)HMM predict
333N-linkedHMM predict
384N-linkedHMM predict
471O-linkedHMM predict
510Phosphotyrosine(EGFR)HMM predict
519Phosphotyrosine(Abl)HMM predict
519Phosphotyrosine(SRC)HMM predict
542Phosphoserine(CK1)HMM predict
576O-linkedHMM predict
576Phosphoserine(CDC2)HMM predict
576Phosphoserine(CDK)HMM predict
579O-linkedHMM predict
579Phosphoserine(IKK)HMM predict
589O-linkedHMM predict
589Phosphoserine(ATM)HMM predict
605O-linkedHMM predict
626Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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