AutismKB 2.0

Annotation Detail for SMARCC1


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Basic Information Top
Gene Symbol:SMARCC1 ( BAF155,CRACC1,Rsc8,SRG3,SWI3 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
Band: 3p21.31
Quick LinksEntrez ID:6599; OMIM: 601732; Uniprot ID:SMRC1_HUMAN; ENSEMBL ID: ENSG00000173473; HGNC ID: 11104
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
301Phosphoserine (By similarity).
310Phosphoserine.
319Phosphoserine.
328Phosphoserine.
330Phosphoserine.
335Phosphothreonine.
337Phosphothreonine.
339Phosphoserine.
345N6-acetyllysine.
346N6-acetyllysine.
354N6-acetyllysine.
357Phosphoserine.
359N6-acetyllysine.
573Phosphoserine.
948N6-acetyllysine.
Location(AA) Modifications Resource
310Phosphoserine.Swiss-Prot 53.0
310PhosphoserinePhospho.ELM 6.0
328Phosphoserine.Swiss-Prot 53.0
328PhosphoserinePhospho.ELM 6.0
330Phosphoserine.Swiss-Prot 53.0
330PhosphoserinePhospho.ELM 6.0
335PhosphothreoninePhospho.ELM 6.0
395PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
19O-linkedHMM predict
50Phosphoserine(IKK)HMM predict
74N-linkedHMM predict
141N-linkedHMM predict
212PhosphoserineHMM predict
212Phosphoserine(ATM)HMM predict
285SulfotyrosineHMM predict
285Phosphotyrosine(Syk)HMM predict
285Phosphotyrosine(INSR)HMM predict
301Phosphoserine(PKG)HMM predict
310Phosphoserine(CDC2)HMM predict
328O-linkedHMM predict
328Phosphoserine(CDC2)HMM predict
328Phosphoserine(PKG)HMM predict
328Phosphoserine(IKK)HMM predict
330O-linkedHMM predict
330Phosphoserine(ATM)HMM predict
335Phosphothreonine(MAPK)HMM predict
335O-linkedHMM predict
337O-linkedHMM predict
343Phosphoserine(PKG)HMM predict
350Phosphoserine(PKC)HMM predict
357Phosphoserine(PKG)HMM predict
398Phosphothreonine(CDC2)HMM predict
441N-linkedHMM predict
447N-linkedHMM predict
479N-linkedHMM predict
514N-linkedHMM predict
562Phosphothreonine(MAPK)HMM predict
799N-linkedHMM predict
816Phosphoserine(CK1)HMM predict
825Phosphoserine(CK2)HMM predict
828Phosphothreonine(CK2)HMM predict
850Phosphoserine(CK1)HMM predict
850Phosphoserine(CK2)HMM predict
862Phosphoserine(CK1)HMM predict
876O-linkedHMM predict
1044O-linkedHMM predict
1044O-linkedHMM predict
1046O-linkedHMM predict
1046Phosphoserine(ATM)HMM predict
1049Phosphothreonine(CDC2)HMM predict
1049O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003074
  • Location:chr3 47602390-47798409
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47805626 47805844 218 7326
CTCF CD4SISSRdata 47805626 47805844 218 7326
H3ac HepG2E 47798831 47799270 439 641
Myc K562GSE19551 47805423 47805907 484 7256
PHF8 Hs68minusFBSGSE20725 47797865 47799041 1176 44
hScc1 CdLSGSE12603 47798131 47798759 628 36
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 47599902 47600267 365 2306
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47797843 47798184 341 0
ER Fulvestrant-MCF7GSE14664 47793450 47793497 47 0
ETS1 JurkatGSE17954 47797258 47799099 1841 0
Fos K562GSE19551 47742175 47742431 256 0
Fos K562GSE19551 47778644 47779217 573 0
H3K4me3 colorectalcancer 47797440 47797871 431 0
H3ac HepG2E 47795772 47796156 384 0
H3ac HepG2E 47796927 47798184 1257 0
Myc K562GSE19551 47778646 47779127 481 0
Myc hESGSE17917 47797803 47798467 664 0
Nanog hESGSE18292 47611359 47611589 230 0
Oct1 HelaGSE14283 47792002 47792035 33 0
RARA MCF7GSE15244 47759393 47759576 183 0
Rb QuiescentGSE19898 47651631 47651772 141 0
TAF k562GSE8489 47796927 47797897 970 0
TFAP2C MCF7GSE21234 47631249 47631600 351 0
hScc1 BcellGSE12603 47680075 47680297 222 0
hScc1 BcellGSE12603 47797843 47798184 341 0
p130 QuiescentGSE19898 47798052 47798274 222 0
p130 SenescentGSE19898 47797649 47797948 299 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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