AutismKB 2.0

Annotation Detail for SMAD4


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Basic Information Top
Gene Symbol:SMAD4 ( DPC4,JIP,MADH4 )
Gene Full Name: SMAD family member 4
Band: 18q21.2
Quick LinksEntrez ID:4089; OMIM: 600993; Uniprot ID:SMAD4_HUMAN; ENSEMBL ID: ENSG00000141646; HGNC ID: 6770
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
37N6-acetyllysine.
428N6-acetyllysine.
507N6-acetyllysine.
Location(AA) Modifications Resource
277Phosphothreonine (MAP2K2)Phospho.ELM 6.0
Location(AA) Modification Resource
8N-linkedHMM predict
9Phosphothreonine(MAPK)HMM predict
173Phosphoserine(CK1)HMM predict
181Phosphothreonine(PKC)HMM predict
191Phosphoserine(PKG)HMM predict
191Phosphoserine(PKA)HMM predict
195Phosphotyrosine(SRC)HMM predict
195Phosphotyrosine(INSR)HMM predict
195Phosphotyrosine(Syk)HMM predict
196O-linkedHMM predict
207N-linkedHMM predict
209O-linkedHMM predict
213N-linkedHMM predict
221O-linkedHMM predict
223Phosphoserine(ATM)HMM predict
223Phosphoserine(IKK)HMM predict
227Phosphoserine(IKK)HMM predict
263N-linkedHMM predict
266O-linkedHMM predict
271O-linkedHMM predict
271O-linkedHMM predict
277Phosphothreonine(CDK)HMM predict
353Phosphotyrosine(INSR)HMM predict
353Phosphotyrosine(Jak)HMM predict
413Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005359
  • Location:chr18 46810610-46860143
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 46809608 46810663 1055 475
Oct1 HelaGSE14283 46791156 46791191 35 19437
PHF8 293TGSE20725 46810016 46811113 1097 46
PHF8 Hs68minusFBSGSE20725 46809552 46811397 1845 136
p130 QuiescentGSE19898 46809824 46810452 628 473
p130 shRbQuiescentGSE19898 46809974 46810823 849 212
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 46868883 46868924 41 8760
Oct1 H2O2-HelaGSE14283 46872658 46872689 31 12530
Oct1 H2O2-HelaGSE14283 46875122 46875159 37 14997
Oct1 HelaGSE14283 46868870 46868922 52 8753
Oct1 HelaGSE14283 46872655 46872692 37 12530
Oct1 HelaGSE14283 46875122 46875162 40 14999
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46831545 46831865 320 0
CTCF CD4SISSRdata 46831545 46831865 320 0
CTCF G2GSE9613 46810249 46811264 1015 0
CTCF G2GSE9613 46831407 46831870 463 0
ER E2-MCF7GSE14664 46831775 46831818 43 0
ER E2-MCF7GSE14664 46836911 46836947 36 0
H3K4me3 colorectalcancer 46811412 46812369 957 0
Nanog hESGSE18292 46829063 46830371 1308 0
Oct1 H2O2-HelaGSE14283 46848060 46848087 27 0
Oct1 H2O2-HelaGSE14283 46852264 46852292 28 0
Oct1 HelaGSE14283 46829172 46829230 58 0
Oct1 HelaGSE14283 46831776 46831814 38 0
Oct1 HelaGSE14283 46833892 46833922 30 0
Oct1 HelaGSE14283 46836915 46836952 37 0
Oct1 HelaGSE14283 46848060 46848088 28 0
PHF8 HeLaGSE20725 46810026 46811446 1420 0
PHF8 Hs68plusFBSGSE20725 46809829 46811402 1573 0
PolII HeLaGSE12783 46809825 46811615 1790 0
hScc1 BcellGSE12603 46810169 46811136 967 0
hScc1 CdLSGSE12603 46831198 46832008 810 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-146a hsa-mir-146a 5 20577838
hsa-miR-146a* hsa-mir-146a 5 20577838
hsa-miR-155 hsa-mir-155 21 18794355
hsa-miR-155* hsa-mir-155 21 18794355
hsa-miR-17 hsa-mir-17 13 20940405
hsa-miR-17* hsa-mir-17 13 20940405
hsa-miR-181a hsa-mir-181a-2 9 20023698
hsa-miR-181a hsa-mir-181a-1 1 20023698
hsa-miR-181a* hsa-mir-181a-1 1 20023698
hsa-miR-181a-2* hsa-mir-181a-2 9 20023698
hsa-miR-181b hsa-mir-181b-1 1 20023698
hsa-miR-181b hsa-mir-181b-2 9 20023698
hsa-miR-181c hsa-mir-181c 19 20023698
hsa-miR-181c* hsa-mir-181c 19 20023698
hsa-miR-181d hsa-mir-181d 19 20023698
hsa-miR-206 hsa-mir-206 6 19341710
hsa-miR-21 hsa-mir-21 17 18548003
hsa-miR-21* hsa-mir-21 17 18548003
hsa-miR-224 hsa-mir-224 X 20118412
hsa-miR-23a hsa-mir-23a 19 18508316
hsa-miR-23a* hsa-mir-23a 19 18508316
hsa-miR-421 hsa-mir-421 X 21352803
hsa-miR-483-3p hsa-mir-483 11 21112326
hsa-miR-92a hsa-mir-92a-1 13 20940405
hsa-miR-92a hsa-mir-92a-2 X 20940405
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