AutismKB 2.0

Annotation Detail for SCN4A


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Basic Information Top
Gene Symbol:SCN4A ( HOKPP2,HYKPP,HYPP,NAC1A,Na(V)1.4,Nav1.4,SkM1 )
Gene Full Name: sodium channel, voltage-gated, type IV, alpha subunit
Band: 17q23.3
Quick LinksEntrez ID:6329; OMIM: 603967; Uniprot ID:SCN4A_HUMAN; ENSEMBL ID: ENSG00000007314; HGNC ID: 10591
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
214N-linked (GlcNAc...) (Potential).
288N-linked (GlcNAc...) (Potential).
291N-linked (GlcNAc...) (Potential).
297N-linked (GlcNAc...) (Potential).
303N-linked (GlcNAc...) (Potential).
315N-linked (GlcNAc...) (Potential).
321N-linked (GlcNAc...) (Potential).
333N-linked (GlcNAc...) (Potential).
362N-linked (GlcNAc...) (Potential).
507N-linked (GlcNAc...) (Potential).
961N-linked (GlcNAc...) (Potential).
1191N-linked (GlcNAc...) (Potential).
1205N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
214N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
288N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
291N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
297N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
303N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
315N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
321N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
333N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
362N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
507N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
961N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1191N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1205N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
288N-linkedHMM predict
291N-linkedHMM predict
297N-linkedHMM predict
303N-linkedHMM predict
309N-linkedHMM predict
315N-linkedHMM predict
321N-linkedHMM predict
325N-linkedHMM predict
333N-linkedHMM predict
362N-linkedHMM predict
507N-linkedHMM predict
513Phosphoserine(ATM)HMM predict
525Phosphoserine(IKK)HMM predict
560S-palmitoylHMM predict
561S-palmitoylHMM predict
809Phosphoserine(IKK)HMM predict
813PhosphoserineHMM predict
928Phosphoserine(CK2)HMM predict
931Phosphoserine(CK2)HMM predict
961N-linkedHMM predict
970Phosphotyrosine(Syk)HMM predict
970Phosphotyrosine(INSR)HMM predict
1019Phosphothreonine(PKC)HMM predict
1054Phosphotyrosine(EGFR)HMM predict
1130Phosphothreonine(PKC)HMM predict
1191N-linkedHMM predict
1205N-linkedHMM predict
1319Phosphotyrosine(Syk)HMM predict
1320Phosphotyrosine(Syk)HMM predict
1565O-linkedHMM predict
1621SulfotyrosineHMM predict
1709N-linkedHMM predict
1786N-linkedHMM predict
1788Phosphoserine(CDK)HMM predict
1788O-linkedHMM predict
1789Phosphoserine(CDC2)HMM predict
1789Phosphoserine(ATM)HMM predict
1791Phosphoserine(CDC2)HMM predict
1791Phosphoserine(MAPK)HMM predict
1791Phosphoserine(ATM)HMM predict
1791PhosphoserineHMM predict
1811Phosphoserine(ATM)HMM predict
1815O-linkedHMM predict
1822ProlineHMM predict
1826Phosphothreonine(PKC)HMM predict
1826O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000334
  • Location:chr17 59369645-59404009
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 59405166 59405484 318 1316
CTCF G2GSE9613 59416592 59417121 529 12847
Fos K562GSE19551 59416129 59416733 604 12422
P300 T30-glioblastomaGSE21026 59416157 59416599 442 12369
TFAP2C MCF7GSE21234 59418416 59419083 667 14740
hScc1 BcellGSE12603 59416948 59417270 322 13100
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 59368486 59368749 263 1028
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 59377898 59378138 240 0
CTCF CD4SISSRdata 59377898 59378138 240 0
CTCF JurkatGSE12889 59377940 59378260 320 0
CTCF G2GSE9613 59372840 59373167 327 0
CTCF G2GSE9613 59381955 59382526 571 0
CTCF G2GSE9613 59403028 59403364 336 0
Myc K562GSE19551 59399037 59399478 441 0
TFAP2C MCF7GSE21234 59377478 59378409 931 0
hScc1 BcellGSE12603 59376983 59378273 1290 0
hScc1 BcellGSE12603 59382072 59382320 248 0
hScc1 BcellGSE12603 59391227 59391487 260 0
hScc1 BcellGSE12603 59392712 59393417 705 0
hScc1 CdLSGSE12603 59382072 59382526 454 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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