AutismKB 2.0

Annotation Detail for SMARCA4


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Basic Information Top
Gene Symbol:SMARCA4 ( BAF190,BRG1,FLJ39786,RTPS2,SNF2,SNF2-BETA,SNF2L4,SNF2LB,SWI2,hSNF2b )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Band: 19p13.2
Quick LinksEntrez ID:6597; OMIM: 603254; Uniprot ID:SMCA4_HUMAN; ENSEMBL ID: ENSG00000127616; HGNC ID: 11100
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
11Phosphothreonine.
188N6-acetyllysine.
455N6-acetyllysine.
609Phosphothreonine.
610Phosphoserine.
613Phosphoserine.
655Phosphoserine.
657Phosphoserine.
660Phosphoserine.
662Phosphoserine.
695Phosphoserine.
699Phosphoserine.
721Phosphoserine.
884DEGH box.
1382Phosphoserine.
1452Phosphoserine.
1570Phosphoserine.
1575Phosphoserine.
1586Phosphoserine.
1627Phosphoserine.
1631Phosphoserine.
1640Phosphoserine.
1642Phosphoserine.
1644Phosphoserine.
Location(AA) Modifications Resource
11Phosphothreonine.Swiss-Prot 53.0
655Phosphoserine.Swiss-Prot 53.0
657Phosphoserine.Swiss-Prot 53.0
660Phosphoserine.Swiss-Prot 53.0
662Phosphoserine.Swiss-Prot 53.0
695PhosphoserinePhospho.ELM 6.0
695Phosphoserine.Swiss-Prot 53.0
1382Phosphoserine.Swiss-Prot 53.0
1382PhosphoserinePhospho.ELM 6.0
1452Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
11Phosphothreonine(CDC2)HMM predict
11O-linkedHMM predict
17Phosphoserine(CDC2)HMM predict
17O-linkedHMM predict
23Phosphoserine(ATM)HMM predict
23Phosphoserine(CDC2)HMM predict
23O-linkedHMM predict
31Phosphoserine(ATM)HMM predict
31O-linkedHMM predict
31Phosphoserine(CDC2)HMM predict
35Phosphoserine(CDC2)HMM predict
35O-linkedHMM predict
38Phosphoserine(IKK)HMM predict
46O-linkedHMM predict
46Phosphoserine(ATM)HMM predict
46Phosphoserine(CDK)HMM predict
111O-linkedHMM predict
117Phosphoserine(ATM)HMM predict
120Phosphotyrosine(EGFR)HMM predict
122Phosphoserine(CDK)HMM predict
122Phosphoserine(CDC2)HMM predict
131O-linkedHMM predict
132PhosphoserineHMM predict
132O-linkedHMM predict
132Phosphoserine(CDC2)HMM predict
132Phosphoserine(CDK)HMM predict
137Phosphoserine(IKK)HMM predict
140O-linkedHMM predict
141Phosphoserine(ATM)HMM predict
141Phosphoserine(IKK)HMM predict
146O-linkedHMM predict
224O-linkedHMM predict
226O-linkedHMM predict
226O-linkedHMM predict
248N-linkedHMM predict
249Phosphotyrosine(Abl)HMM predict
266O-linkedHMM predict
297O-linkedHMM predict
298Phosphothreonine(CDK)HMM predict
308Phosphothreonine(PKC)HMM predict
308O-linkedHMM predict
312O-linkedHMM predict
312Phosphoserine(CDC2)HMM predict
312Phosphoserine(CDK)HMM predict
323Phosphoserine(CDC2)HMM predict
323O-linkedHMM predict
330O-linkedHMM predict
332Phosphoserine(IKK)HMM predict
332Phosphoserine(CDC2)HMM predict
487MethyllysineHMM predict
494Phosphothreonine(PKC)HMM predict
538Phosphotyrosine(EGFR)HMM predict
538Phosphotyrosine(INSR)HMM predict
563N-linkedHMM predict
657Phosphoserine(IKK)HMM predict
657Phosphoserine(CK1)HMM predict
660Phosphoserine(CK1)HMM predict
662Phosphoserine(CK2)HMM predict
662Phosphoserine(CK1)HMM predict
688MethyllysineHMM predict
689MethyllysineHMM predict
837Phosphoserine(CDC2)HMM predict
1058Phosphoserine(CK2)HMM predict
1060Phosphoserine(CK1)HMM predict
1268O-linkedHMM predict
1274O-linkedHMM predict
1409Phosphoserine(CDC2)HMM predict
1421Phosphoserine(IKK)HMM predict
1422O-linkedHMM predict
1422O-linkedHMM predict
1423Phosphothreonine(MAPK)HMM predict
1423O-linkedHMM predict
1425O-linkedHMM predict
1426O-linkedHMM predict
1437Phosphoserine(CK1)HMM predict
1452Phosphoserine(CDC2)HMM predict
1570Phosphoserine(CK2)HMM predict
1570Phosphoserine(CK1)HMM predict
1575Phosphoserine(CK2)HMM predict
1575Phosphoserine(CK2)HMM predict
1575PhosphoserineHMM predict
1586Phosphoserine(CK2)HMM predict
1586Phosphoserine(IKK)HMM predict
1586Phosphoserine(CK1)HMM predict
1620O-linkedHMM predict
1627PhosphoserineHMM predict
1631Phosphoserine(CK2)HMM predict
1631Phosphoserine(IKK)HMM predict
1631Phosphoserine(CK1)HMM predict
1640Phosphoserine(CK1)HMM predict
1640Phosphoserine(IKK)HMM predict
1642Phosphoserine(CK1)HMM predict
1642Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003072
  • Location:chr19 10932605-11033951
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 10925742 10926125 383 6672
HIF1 NormHepG2 10932016 10932481 465 357
Myc hESGSE17917 10932327 10932752 425 66
NFkBII GM12878GSE19485 10925724 10926951 1227 6268
P300 T30-glioblastomaGSE21026 10918245 10919365 1120 13801
PHF8 293TGSE20725 10931778 10933354 1576 40
TFAP2C MCF7GSE21234 10924262 10924890 628 8030
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 10939704 10940857 1153 0
CBP JurkatGSE17954 10992358 10996669 4311 0
CBP JurkatGSE17954 11006268 11008267 1999 0
CTCF CD4GSE12889 11007625 11007939 314 0
CTCF CD4SISSRdata 11007625 11007939 314 0
CTCF HelaGSE12889 11007546 11008006 460 0
CTCF G2GSE9613 11005544 11005899 355 0
ER Breast-CancerGSE22609 10995972 10996602 630 0
ER Breast-CancerGSE22609 11001574 11002027 453 0
ER Breast-CancerGSE22609 11007191 11007704 513 0
ER E2-MCF7GSE14664 10995409 10995445 36 0
ER E2-MCF7GSE14664 11024691 11024724 33 0
Fos K562GSE19551 10957195 10957613 418 0
H3K4me2 HCT116GSE10453 10933609 10934202 593 0
H3K4me3 colorectalcancer 10933249 10933954 705 0
H3ac HepG2E 10933609 10934202 593 0
Myc K562GSE19551 11007443 11007985 542 0
Oct1 HelaGSE14283 10995408 10995438 30 0
Oct1 HelaGSE14283 11029283 11029310 27 0
PHF8 HeLaGSE20725 10931877 10933546 1669 0
Stat6 IL-4-hr4GSE17850 10966421 10967385 964 0
TAF k562GSE8489 10933349 10934202 853 0
TFAP2C MCF7GSE21234 10960644 10961094 450 0
TFAP2C MCF7GSE21234 11007101 11007988 887 0
hScc1 BcellGSE12603 10959290 10959683 393 0
hScc1 BcellGSE12603 10967874 10968173 299 0
hScc1 BcellGSE12603 10989949 10990278 329 0
hScc1 BcellGSE12603 10996507 10997029 522 0
hScc1 BcellGSE12603 11005544 11005762 218 0
hScc1 BcellGSE12603 11007430 11007939 509 0
hScc1 BcellGSE12603 11010017 11010378 361 0
hScc1 BcellGSE12603 11021274 11021465 191 0
hScc1 CdLSGSE12603 11007430 11007939 509 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-21 hsa-mir-21 17 21317927
hsa-miR-21* hsa-mir-21 17 21317927
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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