AutismKB 2.0

Annotation Detail for SCN9A


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Basic Information Top
Gene Symbol:SCN9A ( ETHA,FEB3B,NE-NA,NENA,Nav1.7,PN1 )
Gene Full Name: sodium channel, voltage-gated, type IX, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6335; OMIM: 603415; Uniprot ID:SCN9A_HUMAN; ENSEMBL ID: ENSG00000169432; HGNC ID: 10597
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
209N-linked (GlcNAc...) (Potential).
283N-linked (GlcNAc...) (Potential).
1352N-linked (GlcNAc...) (Potential).
1366N-linked (GlcNAc...) (Potential).
1375N-linked (GlcNAc...) (Potential).
1413Phosphotyrosine.
1418Phosphoserine.
Location(AA) Modifications Resource
209N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
283N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1352N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1366N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1375N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
81Phosphotyrosine(Syk)HMM predict
82SulfotyrosineHMM predict
101N-linkedHMM predict
110Phosphoserine(ATM)HMM predict
113Phosphoserine(CDC2)HMM predict
119Phosphoserine(PKG)HMM predict
283N-linkedHMM predict
302SulfotyrosineHMM predict
339SulfotyrosineHMM predict
462Phosphoserine(CK1)HMM predict
463Phosphoserine(CK1)HMM predict
466Phosphoserine(IKK)HMM predict
466Phosphoserine(CK1)HMM predict
501Phosphoserine(CK1)HMM predict
503Phosphoserine(CK2)HMM predict
505Phosphoserine(CK2)HMM predict
505Phosphoserine(CK1)HMM predict
530Phosphoserine(PKG)HMM predict
530Phosphoserine(CK1)HMM predict
531Phosphothreonine(CDK)HMM predict
533N-linkedHMM predict
581N-linkedHMM predict
587Phosphoserine(PKA)HMM predict
599Phosphoserine(CK1)HMM predict
600Phosphoserine(PKG)HMM predict
600Phosphoserine(PKB)HMM predict
600Phosphoserine(CK1)HMM predict
600Phosphoserine(PKA)HMM predict
601N-linkedHMM predict
603Phosphoserine(ATM)HMM predict
608O-linkedHMM predict
658Phosphoserine(IKK)HMM predict
671Phosphoserine(PKA)HMM predict
725N-linkedHMM predict
972Phosphoserine(CK1)HMM predict
975N-linkedHMM predict
1015Phosphoserine(PKC)HMM predict
1032Phosphothreonine(CK2)HMM predict
1037Phosphotyrosine(INSR)HMM predict
1040N-linkedHMM predict
1082N-linkedHMM predict
1107Phosphoserine(CK2)HMM predict
1107Phosphoserine(CK1)HMM predict
1108Phosphoserine(CK1)HMM predict
1108Phosphoserine(ATM)HMM predict
1110Phosphoserine(CK2)HMM predict
1110Phosphoserine(CK1)HMM predict
1112Phosphoserine(CK1)HMM predict
1114Phosphotyrosine(Syk)HMM predict
1114Phosphotyrosine(Jak)HMM predict
1114Phosphotyrosine(SRC)HMM predict
1115Phosphoserine(Jak)HMM predict
1115Phosphoserine(CK1)HMM predict
1120N-linkedHMM predict
1125Phosphoserine(IKK)HMM predict
1221Phosphothreonine(PKC)HMM predict
1291Phosphothreonine(PKC)HMM predict
1352N-linkedHMM predict
1366N-linkedHMM predict
1413Phosphotyrosine(Jak)HMM predict
1481Phosphotyrosine(Syk)HMM predict
1482Phosphotyrosine(Syk)HMM predict
1871N-linkedHMM predict
1911N-linkedHMM predict
1940N-linkedHMM predict
1942Phosphoserine(CDK)HMM predict
1942Phosphoserine(CDC2)HMM predict
1946O-linkedHMM predict
1949O-linkedHMM predict
1950Phosphoserine(CK1)HMM predict
1950O-linkedHMM predict
1950O-linkedHMM predict
1951O-linkedHMM predict
1951O-linkedHMM predict
1952O-linkedHMM predict
1953O-linkedHMM predict
1954Phosphoserine(IKK)HMM predict
1954O-linkedHMM predict
1954Phosphoserine(MAPK)HMM predict
1957O-linkedHMM predict
1958Phosphotyrosine(SRC)HMM predict
1969Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002977
  • Location:chr2 166763053-166876559
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 166886010 166886042 32 9467
Oct1 H2O2-HelaGSE14283 166887231 166887261 30 10687
Oct1 H2O2-HelaGSE14283 166888713 166888741 28 12168
Oct1 HelaGSE14283 166886005 166886049 44 9468
Oct1 HelaGSE14283 166892714 166892742 28 16169
Oct1 HelaGSE14283 166893603 166893645 42 17065
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 166746416 166746611 195 16540
CTCF CD4SISSRdata 166746416 166746611 195 16540
Nanog hESGSE18292 166747864 166748187 323 15028
hScc1 G2GSE9613 166745801 166746044 243 17131
p63 keratinocytesGSE17611 166749229 166750169 940 13355
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 166834149 166834182 33 0
Oct1 H2O2-HelaGSE14283 166780716 166780801 85 0
Oct1 H2O2-HelaGSE14283 166856001 166856028 27 0
Oct1 H2O2-HelaGSE14283 166859732 166859768 36 0
Oct1 HelaGSE14283 166771578 166771619 41 0
Oct1 HelaGSE14283 166775037 166775069 32 0
Oct1 HelaGSE14283 166780715 166780758 43 0
Oct1 HelaGSE14283 166813353 166813394 41 0
Oct1 HelaGSE14283 166845385 166845413 28 0
Oct1 HelaGSE14283 166856001 166856031 30 0
Oct1 HelaGSE14283 166859730 166859770 40 0
USF2 HepG2E 166794626 166795612 986 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
15225 mRNA chr2 166763547 166983798 511 mRNA SCN9A chr2 166880315 166993821Sense/Antisense (SA) pairs

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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