AutismKB 2.0

Annotation Detail for SMCR7L


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Basic Information Top
Gene Symbol:SMCR7L ( FLJ20232,HSU79252,dJ1104E15.3 )
Gene Full Name: Smith-Magenis syndrome chromosome region, candidate 7-like
Band: 22q13
Quick LinksEntrez ID:54471; OMIM: NA; Uniprot ID:SMC7L_HUMAN; ENSEMBL ID: ENSG00000100335; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
55Phosphoserine.
58Phosphothreonine.
59Phosphoserine.
94Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019008
  • Location:chr22 38228229-38244081
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 shRbQuiescentGSE19898 38227771 38228184 413 252
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 38244599 38244778 179 607
LIN9 SGSE7516 38244394 38244778 384 505
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38240119 38241473 1354 0
ETS1 JurkatGSE17954 38227840 38228821 981 0
H3ac HepG2E 38230054 38230478 424 0
Myc K562GSE19551 38228052 38228626 574 0
Nanog ESGSE20650 38228001 38228613 612 0
Nanog hESGSE18292 38236840 38237167 327 0
P300 T30-glioblastomaGSE21026 38227906 38229251 1345 0
PHF8 HeLaGSE20725 38227674 38228828 1154 0
Rb SenescentGSE19898 38228120 38228411 291 0
hScc1 BcellGSE12603 38228337 38228762 425 0
hScc1 BcellGSE12603 38237046 38237268 222 0
hScc1 BcellGSE12603 38240320 38240757 437 0
hScc1 CdLSGSE12603 38240283 38240826 543 0
p130 QuiescentGSE19898 38228145 38228475 330 0
p130 SenescentGSE19898 38228040 38228459 419 0
p130 shRbSenescentGSE19898 38228157 38228432 275 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