AutismKB 2.0

Annotation Detail for SMAD5


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Basic Information Top
Gene Symbol:SMAD5 ( DKFZp781C1895,DKFZp781O1323,Dwfc,JV5-1,MADH5 )
Gene Full Name: SMAD family member 5
Band: 5q31.1
Quick LinksEntrez ID:4090; OMIM: 603110; Uniprot ID:SMAD5_HUMAN; ENSEMBL ID: ENSG00000113658; HGNC ID: 6771
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylthreonine.
133Phosphoserine.
462Phosphoserine.
463Phosphoserine.
465Phosphoserine.
Location(AA) Modifications Resource
128PhosphotyrosinePhospho.ELM 6.0
463Phosphoserine.Swiss-Prot 53.0
463PhosphoserinePhospho.ELM 6.0
465Phosphoserine.Swiss-Prot 53.0
465PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
12Phosphoserine(MAPK)HMM predict
12Phosphoserine(CDC2)HMM predict
57Phosphoserine(CK1)HMM predict
170N-linkedHMM predict
181N-linkedHMM predict
182N-linkedHMM predict
188Phosphoserine(CDK)HMM predict
188Phosphoserine(CDC2)HMM predict
191O-linkedHMM predict
191Phosphoserine(CDC2)HMM predict
196Phosphoserine(MAPK)HMM predict
196Phosphoserine(CDC2)HMM predict
196O-linkedHMM predict
196Phosphoserine(IKK)HMM predict
200O-linkedHMM predict
201O-linkedHMM predict
205Phosphoserine(CDK)HMM predict
205Phosphoserine(MAPK)HMM predict
205Phosphoserine(CDC2)HMM predict
208O-linkedHMM predict
209Phosphoserine(CK1)HMM predict
213Phosphoserine(CDC2)HMM predict
221Phosphothreonine(MAPK)HMM predict
226Phosphotyrosine(SRC)HMM predict
226Phosphotyrosine(INSR)HMM predict
226Phosphotyrosine(Abl)HMM predict
238Phosphoserine(ATM)HMM predict
265Phosphotyrosine(Abl)HMM predict
305N-linkedHMM predict
320N-linkedHMM predict
325N-linkedHMM predict
349Phosphoserine(CK1)HMM predict
456Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001001419
  • Location:chr5 135496434-135546320
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 135486499 135487668 1169 9351
FoxA1 MCF7MACSdata 135486766 135487235 469 9434
Oct1 H2O2-HelaGSE14283 135486750 135486803 53 9658
Oct1 HelaGSE14283 135486742 135486801 59 9663
P300 T30-glioblastomaGSE21026 135486752 135487525 773 9296
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 135555308 135556088 780 9378
CTCF G2GSE9613 135556435 135557443 1008 10619
ER Fulvestrant-MCF7GSE14664 135548182 135548227 45 1884
Gata2 K562GSE18868 135552378 135552943 565 6340
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 135537765 135537939 174 0
CTCF CD4SISSRdata 135537765 135537939 174 0
ER E2-MCF7GSE14664 135542584 135542618 34 0
ER E2-MCF7GSE14664 135544468 135544500 32 0
ER Fulvestrant-MCF7GSE14664 135542584 135542618 34 0
FoxA1 MCF7MACSdata 135513407 135513686 279 0
Myc hESGSE17917 135496266 135496657 391 0
Myc hESGSE17917 135537966 135538264 298 0
Nanog hESGSE18292 135537640 135538150 510 0
Oct1 H2O2-HelaGSE14283 135542586 135542617 31 0
Oct1 HelaGSE14283 135503127 135503156 29 0
Oct1 HelaGSE14283 135505279 135505319 40 0
Oct1 HelaGSE14283 135542587 135542615 28 0
PHF8 HeLaGSE20725 135495998 135497462 1464 0
PHF8 Hs68minusFBSGSE20725 135495808 135497770 1962 0
PHF8 Hs68plusFBSGSE20725 135495855 135497536 1681 0
Rb QuiescentGSE19898 135497336 135497604 268 0
hScc1 CdLSGSE12603 135537577 135538092 515 0
p130 QuiescentGSE19898 135497250 135497449 199 0
p130 shRbSenescentGSE19898 135497188 135497571 383 0
p63 keratinocytesGSE17611 135500959 135502006 1047 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-133a hsa-mir-133a-1 18 18784367
hsa-miR-133a hsa-mir-133a-2 20 18784367
hsa-miR-133b hsa-mir-133b 6 18784367
hsa-miR-135a hsa-mir-135a-1 3 18784367
hsa-miR-135a hsa-mir-135a-2 12 18784367
hsa-miR-135a* hsa-mir-135a-1 3 18784367
hsa-miR-135b hsa-mir-135b 1 18784367
hsa-miR-135b* hsa-mir-135b 1 18784367
hsa-miR-155 hsa-mir-155 21 20427544
hsa-miR-155 hsa-mir-155 21 20133617
hsa-miR-155 hsa-mir-155 21 18367535
hsa-miR-155* hsa-mir-155 21 20427544
hsa-miR-155* hsa-mir-155 21 20133617
hsa-miR-155* hsa-mir-155 21 18367535
hsa-miR-34c-3p hsa-mir-34c 11 18784367
hsa-miR-34c-5p hsa-mir-34c 11 18784367
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
286 Unknown MicroArray miR-124 SMAD5 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000113658 G1-to-S transition n_a n_a "epithelium, squamous cell, lymphoblast, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
21504 mRNA SMAD5 chr5 135496940 135517351 607 mRNA DAMS chr5 135493102 135498478Sense/Antisense (SA) pairs

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