AutismKB 2.0

Annotation Detail for SMARCA5


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Basic Information Top
Gene Symbol:SMARCA5 ( ISWI,SNF2H,WCRF135,hISWI,hSNF2H )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
Band: 4q31.21
Quick LinksEntrez ID:8467; OMIM: 603375; Uniprot ID:SMCA5_HUMAN; ENSEMBL ID: ENSG00000153147; HGNC ID: 11101
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
66Phosphoserine.
113Phosphothreonine.
115Phosphothreonine.
116Phosphoserine.
137Phosphoserine.
311DEAH box.
440N6-acetyllysine.
699Phosphoserine.
755Phosphoserine.
Location(AA) Modifications Resource
66Phosphoserine.Swiss-Prot 53.0
66PhosphoserinePhospho.ELM 6.0
113Phosphothreonine.Swiss-Prot 53.0
113PhosphothreoninePhospho.ELM 6.0
116Phosphoserine.Swiss-Prot 53.0
116PhosphoserinePhospho.ELM 6.0
137PhosphoserinePhospho.ELM 6.0
137Phosphoserine.Swiss-Prot 53.0
755Phosphoserine.Swiss-Prot 53.0
755PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
18Phosphoserine(CK1)HMM predict
18O-linkedHMM predict
23O-linkedHMM predict
29Phosphoserine(IKK)HMM predict
30N-linkedHMM predict
33N-linkedHMM predict
47O-linkedHMM predict
50O-linkedHMM predict
50O-linkedHMM predict
80SulfotyrosineHMM predict
113Phosphothreonine(MAPK)HMM predict
116Phosphoserine(CDC2)HMM predict
146Phosphothreonine(PKA)HMM predict
221Phosphotyrosine(INSR)HMM predict
472Phosphotyrosine(Abl)HMM predict
549N-linkedHMM predict
670Phosphothreonine(CK2)HMM predict
702N-linkedHMM predict
704Phosphothreonine(PKA)HMM predict
719Phosphotyrosine(INSR)HMM predict
719Phosphotyrosine(EGFR)HMM predict
825Phosphoserine(CK1)HMM predict
876Phosphothreonine(CK2)HMM predict
876Phosphothreonine(MAPK)HMM predict
916Phosphoserine(PKG)HMM predict
946N-linkedHMM predict
947Phosphotyrosine(INSR)HMM predict
948Phosphothreonine(CK2)HMM predict
970Phosphotyrosine(Syk)HMM predict
970Phosphotyrosine(SRC)HMM predict
970Phosphotyrosine(EGFR)HMM predict
1003Phosphothreonine(PKA)HMM predict
1032Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003601
  • Location:chr4 144654065-144694015
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 144654405 144654786 381 0
ETS1 JurkatGSE17954 144653604 144655424 1820 0
Gata2 K562GSE18868 144653839 144654896 1057 0
H3K4me3 colorectalcancer 144654519 144655895 1376 0
H3ac HepG2E 144654749 144656387 1638 0
PHF8 293TGSE20725 144653455 144654886 1431 0
PHF8 HeLaGSE20725 144653565 144654995 1430 0
PHF8 Hs68plusFBSGSE20725 144653385 144654849 1464 0
VDR GM10855-stimGSE22484 144653109 144655931 2822 0
VDR GM10861-stimGSE22484 144653305 144655866 2561 0
hScc1 BcellGSE12603 144654272 144654749 477 0
p130 SenescentGSE19898 144653936 144654652 716 0
p130 shRbQuiescentGSE19898 144653802 144654797 995 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7c hsa-let-7c 21 19372056
hsa-let-7c* hsa-let-7c 21 19372056
hsa-let-7e hsa-let-7e 19 21213367
hsa-let-7e* hsa-let-7e 19 21213367
hsa-miR-100 hsa-mir-100 11 20439489
hsa-miR-100 hsa-mir-100 11 19372056
hsa-miR-100* hsa-mir-100 11 20439489
hsa-miR-100* hsa-mir-100 11 19372056
hsa-miR-125a-3p hsa-mir-125a 19 21213367
hsa-miR-125b hsa-mir-125b-1 11 21212412
hsa-miR-125b hsa-mir-125b-2 21 21212412
hsa-miR-137 hsa-mir-137 1 20439489
hsa-miR-218 hsa-mir-218-1 4 19372056
hsa-miR-218 hsa-mir-218-2 5 19372056
hsa-miR-34a hsa-mir-34a 1 20439489
hsa-miR-34a* hsa-mir-34a 1 20439489
hsa-miR-99a hsa-mir-99a 21 21212412
hsa-miR-99a* hsa-mir-99a 21 21212412
hsa-miR-99b hsa-mir-99b 19 21213367
hsa-miR-99b hsa-mir-99b 19 21212412
hsa-miR-99b* hsa-mir-99b 19 21213367
hsa-miR-99b* hsa-mir-99b 19 21212412
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