AutismKB 2.0

Annotation Detail for SCNN1B


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Basic Information Top
Gene Symbol:SCNN1B ( BESC1,ENaCb,ENaCbeta,SCNEB )
Gene Full Name: sodium channel, nonvoltage-gated 1, beta
Band: 16p12.2-p12.1
Quick LinksEntrez ID:6338; OMIM: 600760; Uniprot ID:SCNNB_HUMAN; ENSEMBL ID: ENSG00000168447; HGNC ID: 10600
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
135N-linked (GlcNAc...) (Potential).
141N-linked (GlcNAc...) (Potential).
199N-linked (GlcNAc...) (Potential).
207N-linked (GlcNAc...) (Potential).
260N-linked (GlcNAc...) (Potential).
364N-linked (GlcNAc...) (Potential).
378N-linked (GlcNAc...) (Potential).
449N-linked (GlcNAc...) (Potential).
484N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
135N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
141N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
199N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
207N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
260N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
364N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
378N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
449N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
484N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
99N-linkedHMM predict
135N-linkedHMM predict
139N-linkedHMM predict
141N-linkedHMM predict
146N-linkedHMM predict
180O-linkedHMM predict
199N-linkedHMM predict
207N-linkedHMM predict
209Phosphothreonine(PKA)HMM predict
260N-linkedHMM predict
306Phosphotyrosine(Syk)HMM predict
306Phosphotyrosine(EGFR)HMM predict
359Phosphoserine(IKK)HMM predict
364N-linkedHMM predict
375Phosphoserine(CK2)HMM predict
378N-linkedHMM predict
449N-linkedHMM predict
467Phosphoserine(CK1)HMM predict
482Phosphoserine(IKK)HMM predict
484N-linkedHMM predict
504Phosphotyrosine(EGFR)HMM predict
577Phosphothreonine(PKC)HMM predict
615Phosphothreonine(CDK)HMM predict
615PhosphothreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000336
  • Location:chr16 23221140-23300116
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23220961 23221215 254 53
Myc K562GSE19551 23215844 23216168 324 5135
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23301072 23301324 252 1082
ER MCF7GSE19013 23300073 23300775 702 308
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
AR prostate-cancerGSE14092 23281081 23281918 837 0
CTCF G2GSE9613 23249686 23249832 146 0
CTCF G2GSE9613 23288221 23288396 175 0
CTCF G2GSE9613 23292459 23292892 433 0
CTCF G2GSE9613 23293650 23293938 288 0
CTCF G2GSE9613 23297132 23297590 458 0
CTCF G2GSE9613 23299588 23300181 593 0
ER MCF7GSE19013 23281056 23282228 1172 0
ER MCF7GSE19013 23293422 23294432 1010 0
FOXA1 MCF7GSE15244 23243319 23244041 722 0
FOXA1 MCF7GSE15244 23253796 23254147 351 0
FoxA1 MCF7MACSdata 23243734 23244022 288 0
FoxA1 MCF7MACSdata 23253761 23254096 335 0
NFkBII GM12878GSE19485 23241500 23243960 2460 0
NFkBII GM12878GSE19485 23252801 23256204 3403 0
NFkBII GM12892GSE19485 23241606 23243370 1764 0
NFkBII GM15510GSE19485 23254182 23255373 1191 0
NFkBII GM18526GSE19485 23241614 23243389 1775 0
NFkBII GM18526GSE19485 23252746 23256076 3330 0
Oct1 HelaGSE14283 23228551 23228586 35 0
Oct1 HelaGSE14283 23271180 23271214 34 0
Oct1 HelaGSE14283 23276585 23276617 32 0
TAF HelaGSE8489 23235864 23236324 460 0
TAF HelaGSE8489 23289240 23289382 142 0
TFAP2C MCF7GSE21234 23239364 23239971 607 0
TFAP2C MCF7GSE21234 23243421 23244171 750 0
TFAP2C MCF7GSE21234 23281282 23282355 1073 0
TFAP2C MCF7GSE21234 23298172 23298558 386 0
hScc1 BcellGSE12603 23220997 23221518 521 0
hScc1 CdLSGSE12603 23220892 23221816 924 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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