AutismKB 2.0

Annotation Detail for SMARCE1


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Basic Information Top
Gene Symbol:SMARCE1 ( BAF57 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Band: 17q21.2
Quick LinksEntrez ID:6605; OMIM: 603111; Uniprot ID:SMCE1_HUMAN; ENSEMBL ID: ENSG00000073584; HGNC ID: 11109
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
265Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
6PhosphoserineHMM predict
12O-linkedHMM predict
12O-linkedHMM predict
54O-linkedHMM predict
115Phosphotyrosine(Syk)HMM predict
115Phosphotyrosine(INSR)HMM predict
119Phosphotyrosine(Syk)HMM predict
170Phosphotyrosine(INSR)HMM predict
182Phosphotyrosine(Syk)HMM predict
182SulfotyrosineHMM predict
208Phosphoserine(CK1)HMM predict
314Phosphoserine(ATM)HMM predict
363Phosphothreonine(MAPK)HMM predict
383Phosphoserine(CK2)HMM predict
385Phosphoserine(IKK)HMM predict
391Phosphoserine(IKK)HMM predict
395O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003079
  • Location:chr17 36037507-36057628
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 36056904 36058624 1720 136
RARG MCF7GSE15244 36058635 36058988 353 1183
TAF k562GSE8489 36057952 36059122 1170 909
hScc1 BcellGSE12603 36058103 36058635 532 741
p130 QuiescentGSE19898 36057128 36058797 1669 334
p130 SenescentGSE19898 36057077 36058645 1568 233
p130 shRbQuiescentGSE19898 36056959 36058854 1895 278
p130 shRbSenescentGSE19898 36057037 36058336 1299 58
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 36029730 36030038 308 7624
CTCF CD4SISSRdata 36029730 36030038 308 7624
CTCF G2GSE9613 36024655 36025027 372 12667
CTCF G2GSE9613 36025284 36026076 792 11828
CTCF G2GSE9613 36029836 36030232 396 7474
NFkBII GM12878GSE19485 36024045 36026120 2075 12425
NFkBII GM18526GSE19485 36024478 36025969 1491 12284
Oct1 HelaGSE14283 36028358 36028389 31 9134
Oct1 HelaGSE14283 36029234 36029294 60 8244
RARA MCF7GSE15244 36028619 36029371 752 8513
TFAP2C MCF7GSE21234 36028568 36029091 523 8678
hScc1 BcellGSE12603 36024802 36025734 932 12240
hScc1 BcellGSE12603 36029836 36030232 396 7474
hScc1 CdLSGSE12603 36024839 36025734 895 12221
hScc1 CdLSGSE12603 36029836 36030232 396 7474
hScc1 G2GSE9613 36029836 36030232 396 7474
p130 QuiescentGSE19898 36030054 36030227 173 7367
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 36055783 36059122 3339 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
11099 EST chr17 36037496 36037849 344 mRNA SMARCE1 chr17 36037505 36057629Sense/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