AutismKB 2.0

Annotation Detail for SMARCAL1


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Basic Information Top
Gene Symbol:SMARCAL1 ( HARP,HHARP )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
Band: 2q35
Quick LinksEntrez ID:50485; OMIM: 606622; Uniprot ID:SMAL1_HUMAN; ENSEMBL ID: ENSG00000138375; HGNC ID: 11102
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
552DESH box.
Location(AA) Modifications Resource
Location(AA) Modification Resource
38Phosphoserine(PKB)HMM predict
38Phosphoserine(CK1)HMM predict
41Phosphoserine(IKK)HMM predict
75N-linkedHMM predict
77Phosphoserine(CK1)HMM predict
78Phosphoserine(CK1)HMM predict
80Phosphoserine(CK2)HMM predict
80Phosphoserine(IKK)HMM predict
81N-linkedHMM predict
129Phosphoserine(IKK)HMM predict
157O-linkedHMM predict
161N-linkedHMM predict
173O-linkedHMM predict
173Phosphoserine(ATM)HMM predict
176O-linkedHMM predict
176Phosphothreonine(MAPK)HMM predict
180O-linkedHMM predict
180O-linkedHMM predict
198Phosphoserine(IKK)HMM predict
215Phosphothreonine(MAPK)HMM predict
270Phosphotyrosine(Syk)HMM predict
308O-linkedHMM predict
311Phosphoserine(IKK)HMM predict
311Phosphoserine(ATM)HMM predict
313O-linkedHMM predict
315O-linkedHMM predict
315Phosphoserine(CK1)HMM predict
316Phosphoserine(CK1)HMM predict
350Phosphoserine(ATM)HMM predict
380Phosphoserine(CK1)HMM predict
685Phosphothreonine(PKC)HMM predict
703N-linkedHMM predict
826Phosphoserine(ATM)HMM predict
862N-linkedHMM predict
869PhosphoserineHMM predict
872SulfotyrosineHMM predict
874SulfotyrosineHMM predict
895Phosphoserine(CK2)HMM predict
910Phosphoserine(IKK)HMM predict
914O-linkedHMM predict
914Phosphothreonine(PKC)HMM predict
915O-linkedHMM predict
915Phosphoserine(IKK)HMM predict
919Phosphoserine(ATM)HMM predict
930Phosphoserine(CK1)HMM predict
934Phosphoserine(CDK)HMM predict
934Phosphoserine(CDK)HMM predict
934Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014140
  • Location:chr2 216986822-217056016
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 216977071 216977421 350 9577
CTCF CD4SISSRdata 216977071 216977421 350 9577
CTCF G2GSE9613 216968244 216968390 146 18506
CTCF G2GSE9613 216977091 216977527 436 9514
CTCF G2GSE9613 216985587 216985842 255 1108
ETS1 JurkatGSE17954 216984697 216986127 1430 1411
H3K27me3 colorectalcancer 216981166 216981591 425 5444
KLF4 hESGSE17917 216986023 216986180 157 721
P300 T30-glioblastomaGSE21026 216984820 216985980 1160 1423
PHF8 293TGSE20725 216984955 216986067 1112 1312
PHF8 HeLaGSE20725 216985192 216986040 848 1207
USF2 HepG2E 216984905 216986134 1229 1303
hScc1 CdLSGSE12603 216977091 216977527 436 9514
hScc1 G2GSE9613 216977091 216977527 436 9514
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc hESGSE17917 217061045 217061371 326 5192
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 217003898 217004173 275 0
P300 T30-glioblastomaGSE21026 216999779 217000520 741 0
TAF k562GSE8489 216986815 216987098 283 0
TAF k562GSE8489 216990641 216990872 231 0
TFAP2C MCF7GSE21234 217051243 217051564 321 0
p130 SenescentGSE19898 217051056 217051602 546 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
15623 mRNA SMARCAL1 chr2 217104083 217173278 103 EST chr2 217158126 217158533Sense/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


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