AutismKB 2.0

Annotation Detail for SCN1B


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Basic Information Top
Gene Symbol:SCN1B ( GEFSP1 )
Gene Full Name: sodium channel, voltage-gated, type I, beta
Band: 19q13.11
Quick LinksEntrez ID:6324; OMIM: 600235; Uniprot ID:SCN1B_HUMAN; ENSEMBL ID: ENSG00000105711; HGNC ID: 10586
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
93N-linked (GlcNAc...) (Potential).
110N-linked (GlcNAc...) (Potential).
114N-linked (GlcNAc...) (Potential).
135N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
93N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
110N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
114N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
135N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
26Phosphoserine(CK1)HMM predict
98Phosphothreonine(PKA)HMM predict
110N-linkedHMM predict
114N-linkedHMM predict
119Phosphotyrosine(EGFR)HMM predict
119Phosphotyrosine(INSR)HMM predict
210N-linkedHMM predict
211S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001037
  • Location:chr19 40213373-40223191
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 40222550 40223090 540 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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