AutismKB 2.0

Annotation Detail for SCN5A


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Basic Information Top
Gene Symbol:SCN5A ( CDCD2,CMD1E,CMPD2,HB1,HB2,HBBD,HH1,ICCD,IVF,LQT3,Nav1.5,PFHB1,SSS1,VF1 )
Gene Full Name: sodium channel, voltage-gated, type V, alpha subunit
Band: 3p22.2
Quick LinksEntrez ID:6331; OMIM: 600163; Uniprot ID:SCN5A_HUMAN; ENSEMBL ID: ENSG00000183873; HGNC ID: 10593
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
214N-linked (GlcNAc...) (Potential).
283N-linked (GlcNAc...) (Potential).
288N-linked (GlcNAc...) (Potential).
291N-linked (GlcNAc...) (Potential).
318N-linked (GlcNAc...) (Potential).
328N-linked (GlcNAc...) (Potential).
548N-linked (GlcNAc...) (Potential).
592N-linked (GlcNAc...) (Potential).
740N-linked (GlcNAc...) (Potential).
803N-linked (GlcNAc...) (Potential).
841N-linked (GlcNAc...) (Potential).
864N-linked (GlcNAc...) (Potential).
946N-linked (GlcNAc...) (Potential).
1365N-linked (GlcNAc...) (Potential).
1374N-linked (GlcNAc...) (Potential).
1380N-linked (GlcNAc...) (Potential).
1388N-linked (GlcNAc...) (Potential).
1736N-linked (GlcNAc...) (Potential).
1774N-linked (GlcNAc...) (Potential).
1955N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
214N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
283N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
288N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
291N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
318N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
328N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
548N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
592N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
740N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
803N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
841N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
864N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
946N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1365N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1374N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1380N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1388N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1494PhosphotyrosinePhospho.ELM 6.0
1495PhosphotyrosinePhospho.ELM 6.0
1736N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1774N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1955N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
17Phosphothreonine(PKA)HMM predict
17Phosphothreonine(PKC)HMM predict
159Phosphotyrosine(Jak)HMM predict
283N-linkedHMM predict
288N-linkedHMM predict
291N-linkedHMM predict
309Phosphoserine(CK2)HMM predict
309Phosphoserine(ATM)HMM predict
318N-linkedHMM predict
328N-linkedHMM predict
352Phosphotyrosine(Syk)HMM predict
352Phosphotyrosine(INSR)HMM predict
464Phosphoserine(IKK)HMM predict
476Phosphoserine(PKC)HMM predict
499Phosphoserine(IKK)HMM predict
548N-linkedHMM predict
571Phosphoserine(PKA)HMM predict
571Phosphoserine(PKG)HMM predict
571Phosphoserine(CAMK2)HMM predict
577Phosphoserine(CDC2)HMM predict
577O-linkedHMM predict
581O-linkedHMM predict
592N-linkedHMM predict
598N-linkedHMM predict
613Phosphoserine(CDC2)HMM predict
613Phosphoserine(MAPK)HMM predict
632Phosphothreonine(MAPK)HMM predict
634O-linkedHMM predict
664Phosphoserine(PKG)HMM predict
740N-linkedHMM predict
864N-linkedHMM predict
871Phosphoserine(CK1)HMM predict
873Phosphoserine(IKK)HMM predict
946N-linkedHMM predict
1007O-linkedHMM predict
1009Phosphotyrosine(Jak)HMM predict
1010O-linkedHMM predict
1010Phosphoserine(IKK)HMM predict
1010Phosphoserine(Jak)HMM predict
1054Phosphoserine(CK2)HMM predict
1056Phosphothreonine(CK2)HMM predict
1066Phosphoserine(CK1)HMM predict
1073Phosphoserine(CK1)HMM predict
1074Phosphoserine(CK1)HMM predict
1079Phosphoserine(ATM)HMM predict
1095C-linkedHMM predict
1096Phosphoserine(IKK)HMM predict
1099O-linkedHMM predict
1109O-linkedHMM predict
1131Phosphothreonine(CDC2)HMM predict
1137Phosphoserine(ATM)HMM predict
1228Phosphotyrosine(EGFR)HMM predict
1304Phosphothreonine(PKC)HMM predict
1365N-linkedHMM predict
1374N-linkedHMM predict
1379N-linkedHMM predict
1380N-linkedHMM predict
1386Phosphoserine(IKK)HMM predict
1388N-linkedHMM predict
1434Phosphotyrosine(Syk)HMM predict
1494Phosphotyrosine(Syk)HMM predict
1495Phosphotyrosine(Syk)HMM predict
1736N-linkedHMM predict
1883N-linkedHMM predict
1966O-linkedHMM predict
1967Phosphoserine(IKK)HMM predict
1967Phosphoserine(CK1)HMM predict
1971O-linkedHMM predict
1972Phosphoserine(IKK)HMM predict
1984Phosphothreonine(PKA)HMM predict
1985Phosphoserine(PKA)HMM predict
1996Phosphoserine(CK2)HMM predict
2007Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000335
  • Location:chr3 38564557-38666166
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38667782 38668089 307 1769
CTCF CD4SISSRdata 38667782 38668089 307 1769
CTCF HelaGSE12889 38667793 38668005 212 1733
CTCF JurkatGSE12889 38667782 38668054 272 1752
CTCF G2GSE9613 38665814 38668077 2263 779
CTCF G2GSE9613 38671974 38672331 357 5986
H3K4me2 HCT116GSE10453 38666514 38667456 942 819
hScc1 BcellGSE12603 38665560 38666988 1428 108
hScc1 BcellGSE12603 38667596 38668005 409 1634
hScc1 BcellGSE12603 38672087 38672331 244 6043
hScc1 CdLSGSE12603 38667456 38668180 724 1652
hScc1 G2GSE9613 38665661 38668077 2416 703
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38554836 38555056 220 9612
CTCF G2GSE9613 38560396 38560528 132 4096
Nanog hESGSE18292 38553181 38553542 361 11196
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 38650419 38651178 759 0
CTCF G2GSE9613 38564595 38565051 456 0
CTCF G2GSE9613 38567789 38568058 269 0
CTCF G2GSE9613 38577499 38579179 1680 0
CTCF G2GSE9613 38579685 38580034 349 0
CTCF G2GSE9613 38581170 38581389 219 0
CTCF G2GSE9613 38591551 38592096 545 0
CTCF G2GSE9613 38592928 38593115 187 0
CTCF G2GSE9613 38593372 38593932 560 0
CTCF G2GSE9613 38595604 38596241 637 0
CTCF G2GSE9613 38597201 38597706 505 0
CTCF G2GSE9613 38598298 38598583 285 0
CTCF G2GSE9613 38602171 38602945 774 0
CTCF G2GSE9613 38604266 38604517 251 0
CTCF G2GSE9613 38606208 38606434 226 0
CTCF G2GSE9613 38617436 38617616 180 0
CTCF G2GSE9613 38622249 38622503 254 0
CTCF G2GSE9613 38624906 38625054 148 0
CTCF G2GSE9613 38626084 38626413 329 0
CTCF G2GSE9613 38627240 38627681 441 0
CTCF G2GSE9613 38634027 38634333 306 0
CTCF G2GSE9613 38638615 38638893 278 0
CTCF G2GSE9613 38639963 38640226 263 0
CTCF G2GSE9613 38644566 38645459 893 0
CTCF G2GSE9613 38647812 38648108 296 0
CTCF G2GSE9613 38648617 38649080 463 0
CTCF G2GSE9613 38649818 38650046 228 0
CTCF G2GSE9613 38662251 38662381 130 0
Nanog hESGSE18292 38633611 38634059 448 0
P300 T30-glioblastomaGSE21026 38650492 38651203 711 0
TFAP2C MCF7GSE21234 38622159 38622571 412 0
hScc1 BcellGSE12603 38595915 38596241 326 0
hScc1 BcellGSE12603 38602171 38602392 221 0
hScc1 BcellGSE12603 38627240 38627681 441 0
hScc1 BcellGSE12603 38633399 38634373 974 0
hScc1 G2GSE9613 38598298 38598583 285 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-451 hsa-mir-451 17 21375772
No data
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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