AutismKB 2.0

Annotation Detail for SMAD6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMAD6 ( HsT17432,MADH6,MADH7 )
Gene Full Name: SMAD family member 6
Band: 15q22.31
Quick LinksEntrez ID:4091; OMIM: 602931; Uniprot ID:SMAD6_HUMAN; ENSEMBL ID: ENSG00000137834; HGNC ID: 6772
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
435Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
48MethylarginineHMM predict
50MethylarginineHMM predict
75MethylarginineHMM predict
94PhosphoserineHMM predict
94Phosphoserine(IKK)HMM predict
288Phosphotyrosine(Syk)HMM predict
300SulfotyrosineHMM predict
322Phosphoserine(IKK)HMM predict
383Phosphothreonine(PKC)HMM predict
385Phosphoserine(CAMK2)HMM predict
385Phosphoserine(PKG)HMM predict
467Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005585
  • Location:chr15 64781687-64861378
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 64780297 64782112 1815 483
CTCF CD4GSE12889 64777885 64778088 203 3701
CTCF CD4SISSRdata 64777885 64778088 203 3701
CTCF HelaGSE12889 64777811 64778066 255 3749
CTCF G2GSE9613 64764892 64765253 361 16615
CTCF G2GSE9613 64777817 64778058 241 3750
Fos K562GSE19551 64768115 64768635 520 13313
P300 T30-glioblastomaGSE21026 64779741 64782785 3044 425
hScc1 BcellGSE12603 64775862 64776153 291 5680
p130 shRbQuiescentGSE19898 64780953 64781370 417 526
p63 keratinocytesGSE17611 64779101 64779911 810 2182
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 64864811 64866044 1233 4049
TFAP2C MCF7GSE21234 64875286 64875862 576 14196
hScc1 BcellGSE12603 64864500 64864749 249 3246
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 64797224 64802776 5552 0
CTCF CD4GSE12889 64853787 64854020 233 0
CTCF CD4SISSRdata 64853787 64854020 233 0
CTCF HelaGSE12889 64853744 64854204 460 0
CTCF JurkatGSE12889 64853820 64854043 223 0
CTCF G2GSE9613 64781524 64781921 397 0
CTCF G2GSE9613 64782256 64783872 1616 0
CTCF G2GSE9613 64836995 64837294 299 0
CTCF G2GSE9613 64842511 64842843 332 0
CTCF G2GSE9613 64853308 64853998 690 0
CTCF G2GSE9613 64860300 64860775 475 0
ER E2-MCF7GSE14664 64811603 64811641 38 0
H3K4me2 HCT116GSE10453 64783737 64784130 393 0
H3ac HepG2E 64783737 64784972 1235 0
H3ac HepG2E 64838999 64839287 288 0
H3ac HepG2E 64848220 64848551 331 0
Nanog hESGSE18292 64827746 64828250 504 0
Oct1 H2O2-HelaGSE14283 64817211 64817248 37 0
Oct1 HelaGSE14283 64817211 64817249 38 0
Oct1 HelaGSE14283 64844054 64844091 37 0
P300 T0-glioblastomaGSE21026 64859194 64860045 851 0
TFAP2C MCF7GSE21234 64838263 64838619 356 0
TFAP2C MCF7GSE21234 64841582 64842107 525 0
TFAP2C MCF7GSE21234 64842168 64843538 1370 0
TFAP2C MCF7GSE21234 64845021 64845941 920 0
hScc1 BcellGSE12603 64781696 64781995 299 0
hScc1 BcellGSE12603 64782846 64783606 760 0
hScc1 BcellGSE12603 64786988 64787270 282 0
hScc1 BcellGSE12603 64837150 64837329 179 0
hScc1 BcellGSE12603 64845543 64845938 395 0
hScc1 BcellGSE12603 64853481 64853998 517 0
hScc1 BcellGSE12603 64860300 64860955 655 0
hScc1 CdLSGSE12603 64853593 64853998 405 0
p130 shRbSenescentGSE19898 64808946 64809246 300 0
p130 shRbSenescentGSE19898 64809357 64809582 225 0
p130 shRbSenescentGSE19898 64846302 64846522 220 0
p63 keratinocytesGSE17611 64811208 64812153 945 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-129* hsa-mir-129-1 7 18189265
hsa-miR-129-3p hsa-mir-129-2 11 18189265
hsa-miR-129-5p hsa-mir-129-1 7 18189265
hsa-miR-129-5p hsa-mir-129-2 11 18189265
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-520h hsa-mir-520h 19 18189265
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
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
708 Unknown WEAK miR-520h SMAD6 pMIR-REPORT 18189265
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000137834 hematopoietic stem cells (HSCs) hematopoietic stem cell differentiation up regulated "lymphocyte, epithelium" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved