AutismKB 2.0

Annotation Detail for SMCR8


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Basic Information Top
Gene Symbol:SMCR8 ( FLJ34716,FLJ60657 )
Gene Full Name: Smith-Magenis syndrome chromosome region, candidate 8
Band: 17p11.2
Quick LinksEntrez ID:140775; OMIM: NA; Uniprot ID:SMCR8_HUMAN; ENSEMBL ID: ENSG00000176994; HGNC ID: 17921
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
417Phosphoserine.
465Phosphoserine.
467Phosphoserine.
468Phosphoserine.
471Phosphoserine.
487Phosphoserine.
489Phosphoserine.
492Phosphoserine.
494Phosphothreonine.
498Phosphoserine.
Location(AA) Modifications Resource
465Phosphoserine.Swiss-Prot 53.0
467Phosphoserine.Swiss-Prot 53.0
468Phosphoserine.Swiss-Prot 53.0
471Phosphoserine.Swiss-Prot 53.0
489Phosphoserine (By similarity).Swiss-Prot 53.0
492Phosphoserine (By similarity).Swiss-Prot 53.0
498Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
16Phosphotyrosine(INSR)HMM predict
16Phosphotyrosine(Syk)HMM predict
16Phosphotyrosine(EGFR)HMM predict
21Phosphotyrosine(Syk)HMM predict
21Phosphotyrosine(Abl)HMM predict
21Phosphotyrosine(SRC)HMM predict
30Phosphotyrosine(Syk)HMM predict
77N-linkedHMM predict
180Phosphoserine(CK2)HMM predict
227Phosphoserine(ATM)HMM predict
279Phosphoserine(ATM)HMM predict
279Phosphoserine(IKK)HMM predict
282Phosphoserine(IKK)HMM predict
283O-linkedHMM predict
284O-linkedHMM predict
321Phosphothreonine(PKC)HMM predict
391Phosphoserine(CK1)HMM predict
400Phosphoserine(CK2)HMM predict
401Phosphoserine(CK2)HMM predict
438Phosphotyrosine(SRC)HMM predict
438Phosphotyrosine(INSR)HMM predict
438Phosphotyrosine(Syk)HMM predict
438Phosphotyrosine(EGFR)HMM predict
457SulfotyrosineHMM predict
457Phosphotyrosine(INSR)HMM predict
457Phosphotyrosine(Syk)HMM predict
467Phosphoserine(CK2)HMM predict
477Phosphothreonine(PKC)HMM predict
489Phosphoserine(IKK)HMM predict
489Phosphoserine(ATM)HMM predict
492O-linkedHMM predict
498Phosphoserine(CDC2)HMM predict
537Phosphotyrosine(EGFR)HMM predict
562Phosphoserine(ATM)HMM predict
562Phosphoserine(MAPK)HMM predict
579Phosphoserine(ATM)HMM predict
599O-linkedHMM predict
600Phosphothreonine(MAPK)HMM predict
600Phosphothreonine(CDK)HMM predict
606Phosphoserine(CK1)HMM predict
636N-linkedHMM predict
642N-linkedHMM predict
664Phosphoserine(CK1)HMM predict
670N-linkedHMM predict
672Phosphoserine(CK1)HMM predict
675O-linkedHMM predict
676O-linkedHMM predict
676Phosphoserine(IKK)HMM predict
679O-linkedHMM predict
683O-linkedHMM predict
790Phosphoserine(CDC2)HMM predict
814N-linkedHMM predict
844Phosphotyrosine(Syk)HMM predict
864S-palmitoylHMM predict
927PhenylalanineHMM predict
929PhenylalanineHMM predict
930PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_144775
  • Location:chr17 18159440-18167107
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 18158908 18159820 912 77
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 18167281 18168084 803 575
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 18159593 18161067 1474 0
RARG MCF7GSE15244 18160165 18160850 685 0
USF1 HepG2E 18157423 18161933 4510 0
USF2 HepG2E 18158904 18160392 1488 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