AutismKB 2.0

Annotation Detail for SCN8A


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Basic Information Top
Gene Symbol:SCN8A ( CERIII,MED,NaCh6,Nav1.6,PN4 )
Gene Full Name: sodium channel, voltage gated, type VIII, alpha subunit
Band: 12q13.13
Quick LinksEntrez ID:6334; OMIM: 600702; Uniprot ID:SCN8A_HUMAN; ENSEMBL ID: ENSG00000196876; HGNC ID: 10596
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
215N-linked (GlcNAc...) (Potential).
289N-linked (GlcNAc...) (Potential).
295N-linked (GlcNAc...) (Potential).
308N-linked (GlcNAc...) (Potential).
326N-linked (GlcNAc...) (Potential).
544N-linked (GlcNAc...) (Potential).
640N-linked (GlcNAc...) (Potential).
877N-linked (GlcNAc...) (Potential).
1047N-linked (GlcNAc...) (Potential).
1064N-linked (GlcNAc...) (Potential).
1091N-linked (GlcNAc...) (Potential).
1358N-linked (GlcNAc...) (Potential).
1372N-linked (GlcNAc...) (Potential).
1383N-linked (GlcNAc...) (Potential).
1768N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
215N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
289N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
295N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
308N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
326N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
544N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
640N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
877N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1047N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1064N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1091N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1358N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1372N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1383N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1768N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
51Phosphoserine(CK1)HMM predict
87SulfotyrosineHMM predict
87Phosphotyrosine(Syk)HMM predict
289N-linkedHMM predict
295N-linkedHMM predict
305Phosphotyrosine(INSR)HMM predict
308N-linkedHMM predict
311N-linkedHMM predict
326N-linkedHMM predict
337Phosphotyrosine(INSR)HMM predict
348SulfotyrosineHMM predict
473Phosphoserine(CDC2)HMM predict
477Phosphoserine(CK1)HMM predict
481Phosphoserine(CK1)HMM predict
504Phosphoserine(CK2)HMM predict
504Phosphoserine(CK2)HMM predict
504Phosphoserine(CK1)HMM predict
518Phosphoserine(CK2)HMM predict
520Phosphoserine(CK2)HMM predict
541Phosphoserine(PKG)HMM predict
544N-linkedHMM predict
549Phosphoserine(CK1)HMM predict
553Phosphoserine(CDC2)HMM predict
561Phosphoserine(CK1)HMM predict
561Phosphoserine(PKA)HMM predict
589Phosphoserine(CK1)HMM predict
613Phosphoserine(PKC)HMM predict
613Phosphoserine(PKA)HMM predict
613Phosphoserine(PKG)HMM predict
614Phosphotyrosine(PKG)HMM predict
632Phosphoserine(CDK)HMM predict
640N-linkedHMM predict
646N-linkedHMM predict
722S-palmitoylHMM predict
735S-palmitoylHMM predict
812SulfotyrosineHMM predict
1047N-linkedHMM predict
1064N-linkedHMM predict
1091N-linkedHMM predict
1114Phosphoserine(CK2)HMM predict
1115Phosphoserine(CK1)HMM predict
1117Phosphoserine(CK1)HMM predict
1130Phosphoserine(CK1)HMM predict
1131Phosphoserine(CK1)HMM predict
1135Phosphoserine(CK2)HMM predict
1154SulfotyrosineHMM predict
1154Phosphotyrosine(Syk)HMM predict
1154Phosphotyrosine(Jak)HMM predict
1154Phosphotyrosine(INSR)HMM predict
1221Phosphotyrosine(EGFR)HMM predict
1297Phosphothreonine(PKC)HMM predict
1358N-linkedHMM predict
1372N-linkedHMM predict
1383N-linkedHMM predict
1384N-linkedHMM predict
1439SulfotyrosineHMM predict
1439Phosphotyrosine(SRC)HMM predict
1439Phosphotyrosine(INSR)HMM predict
1439Phosphotyrosine(Syk)HMM predict
1488Phosphotyrosine(Syk)HMM predict
1489Phosphotyrosine(Syk)HMM predict
1733O-linkedHMM predict
1789SulfotyrosineHMM predict
1877N-linkedHMM predict
1937Phosphoserine(IKK)HMM predict
1938Phosphothreonine(MAPK)HMM predict
1940O-linkedHMM predict
1941O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014191
  • Location:chr12 50271286-50488563
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50270830 50271019 189 362
CTCF CD4SISSRdata 50270830 50271019 189 362
CTCF JurkatGSE12889 50270721 50271011 290 421
CTCF G2GSE9613 50270534 50271240 706 400
hScc1 G2GSE9613 50270534 50271320 786 360
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50492907 50493290 383 4535
hScc1 BcellGSE12603 50493092 50493290 198 4628
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50358222 50358436 214 0
CTCF CD4SISSRdata 50358222 50358436 214 0
CTCF HelaGSE12889 50358248 50358419 171 0
CTCF JurkatGSE12889 50327174 50327328 154 0
CTCF G2GSE9613 50339933 50340195 262 0
CTCF G2GSE9613 50358184 50358508 324 0
CTCF G2GSE9613 50367397 50367589 192 0
CTCF G2GSE9613 50401564 50402005 441 0
CTCF G2GSE9613 50461532 50461850 318 0
CTCF G2GSE9613 50486850 50487337 487 0
FOXA1 MCF7GSE15244 50363611 50364119 508 0
Fos K562GSE19551 50432597 50433098 501 0
FoxA1 MCF7MACSdata 50445954 50446187 233 0
NRSF JurkatGSE13047 50272399 50274124 1725 0
NRSF mAbJurkat 50272300 50274653 2353 0
NRSF mAbJurkat 50274994 50278238 3244 0
NRSF-mono JurkatQuESTdata 50273254 50274124 870 0
NRSF pAbJurkat 50272664 50274323 1659 0
NRSF-poly JurkatQuESTdata 50273071 50274250 1179 0
NRSF-poly JurkatQuESTdata 50420642 50420980 338 0
Oct1 H2O2-HelaGSE14283 50311962 50311990 28 0
Oct1 H2O2-HelaGSE14283 50320073 50320099 26 0
P300 T30-glioblastomaGSE21026 50453231 50454150 919 0
Rb SenescentGSE19898 50271666 50271844 178 0
Rb SenescentGSE19898 50271865 50272042 177 0
TAF HelaGSE8489 50465129 50465561 432 0
TFAP2C MCF7GSE21234 50358175 50358583 408 0
hScc1 CdLSGSE12603 50358184 50358756 572 0
p130 SenescentGSE19898 50385465 50385758 293 0
p63 keratinocytesGSE17611 50477070 50477947 877 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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