AutismKB 2.0

Annotation Detail for SMAD9


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Basic Information Top
Gene Symbol:SMAD9 ( MADH6,MADH9,SMAD8,SMAD8A,SMAD8B )
Gene Full Name: SMAD family member 9
Band: 13q13.3
Quick LinksEntrez ID:4093; OMIM: 603295; Uniprot ID:SMAD9_HUMAN; ENSEMBL ID: ENSG00000120693; HGNC ID: 6774
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
465Phosphoserine.
467Phosphoserine.
Location(AA) Modifications Resource
465Phosphoserine.Swiss-Prot 53.0
465PhosphoserinePhospho.ELM 6.0
467Phosphoserine.Swiss-Prot 53.0
467PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
15Phosphoserine(MAPK)HMM predict
15Phosphoserine(CDC2)HMM predict
60Phosphoserine(IKK)HMM predict
136Phosphothreonine(PKA)HMM predict
164Phosphoserine(CK2)HMM predict
174N-linkedHMM predict
187O-linkedHMM predict
192Phosphoserine(ATM)HMM predict
192Phosphoserine(CDC2)HMM predict
192Phosphoserine(CDK)HMM predict
194O-linkedHMM predict
198O-linkedHMM predict
209Phosphoserine(IKK)HMM predict
209Phosphoserine(ATM)HMM predict
209Phosphoserine(CDK)HMM predict
209Phosphoserine(MAPK)HMM predict
209Phosphoserine(CDC2)HMM predict
212Phosphoserine(IKK)HMM predict
212Phosphoserine(CDC2)HMM predict
212Phosphoserine(ATM)HMM predict
214Phosphoserine(IKK)HMM predict
214O-linkedHMM predict
218Phosphoserine(ATM)HMM predict
226Phosphothreonine(CDK)HMM predict
322N-linkedHMM predict
327N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005905
  • Location:chr13 36320338-36351965
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 36358395 36358613 218 6539
CTCF G2GSE9613 36359943 36360254 311 8133
Oct1 H2O2-HelaGSE14283 36367222 36367260 38 15276
Oct1 HelaGSE14283 36367222 36367260 38 15276
p130 SGSE7516 36352200 36352532 332 401
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 36322831 36323528 697 0
CTCF G2GSE9613 36325755 36325931 176 0
CTCF G2GSE9613 36330627 36330802 175 0
Oct1 HelaGSE14283 36344948 36345025 77 0
hScc1 BcellGSE12603 36320875 36321086 211 0
hScc1 BcellGSE12603 36322831 36323393 562 0
hScc1 BcellGSE12603 36330627 36330802 175 0
hScc1 CdLSGSE12603 36330627 36330802 175 0
hScc1 G2GSE9613 36330627 36330802 175 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-135a hsa-mir-135a-1 3 21063788
hsa-miR-135a hsa-mir-135a-2 12 21063788
hsa-miR-140-5p hsa-mir-140 16 21063788
hsa-miR-582-3p hsa-mir-582 5 21063788
hsa-miR-582-5p hsa-mir-582 5 21063788
hsa-miR-938 hsa-mir-938 10 21063788
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


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