AutismKB 2.0

Annotation Detail for SMARCD1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMARCD1 ( BAF60A,CRACD1,Rsc6p )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Band: 12q13.12
Quick LinksEntrez ID:6602; OMIM: 601735; Uniprot ID:SMRD1_HUMAN; ENSEMBL ID: ENSG00000066117; HGNC ID: 11106
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
10Phosphotyrosine(Abl)HMM predict
31Phosphothreonine(CDK)HMM predict
31Phosphothreonine(CDC2)HMM predict
45N-linkedHMM predict
105Phosphoserine(ATM)HMM predict
108Phosphotyrosine(INSR)HMM predict
108Phosphotyrosine(Syk)HMM predict
156Phosphoserine(CK2)HMM predict
183Phosphoserine(CK1)HMM predict
316Phosphoserine(PKG)HMM predict
374Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003076
  • Location:chr12 48765278-48780689
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 48765037 48765314 277 103
CTCF CD4SISSRdata 48765037 48765314 277 103
ETS1 JurkatGSE17954 48764635 48765884 1249 19
p130 SenescentGSE19898 48764667 48764963 296 464
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 48768642 48769089 447 0
CTCF CD4SISSRdata 48768642 48769089 447 0
CTCF HelaGSE12889 48768727 48769011 284 0
CTCF G2GSE9613 48765132 48765978 846 0
CTCF G2GSE9613 48768662 48769372 710 0
CTCF G2GSE9613 48780034 48780345 311 0
FOXA1 MCF7GSE15244 48765436 48766200 764 0
FOXA1 MCF7GSE15244 48768437 48769189 752 0
FoxA1 MCF7MACSdata 48768714 48768966 252 0
H3ac HepG2E 48765798 48767836 2038 0
KLF4 hESGSE17917 48765266 48765684 418 0
TAF HelaGSE8489 48770461 48770630 169 0
hScc1 BcellGSE12603 48768698 48769116 418 0
hScc1 CdLSGSE12603 48768662 48769116 454 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-122 hsa-mir-122 18 19487572
hsa-miR-122* hsa-mir-122 18 19487572
hsa-miR-125b hsa-mir-125b-1 11 21212412
hsa-miR-125b hsa-mir-125b-2 21 21212412
hsa-miR-99a hsa-mir-99a 21 21212412
hsa-miR-99a* hsa-mir-99a 21 21212412
hsa-miR-99b hsa-mir-99b 19 21212412
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