AutismKB 2.0

Annotation Detail for SMTN


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Basic Information Top
Gene Symbol:SMTN ( FLJ35365,FLJ38597 )
Gene Full Name: smoothelin
Band: 22q12.2
Quick LinksEntrez ID:6525; OMIM: 602127; Uniprot ID:SMTN_HUMAN; ENSEMBL ID: ENSG00000183963; HGNC ID: 11126
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
245Phosphoserine.
301Phosphoserine.
304Phosphoserine.
341Phosphoserine.
351Phosphothreonine.
357Phosphoserine.
360Phosphothreonine.
503Phosphoserine.
514Phosphoserine.
576Phosphoserine.
729Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_134269
  • Location:chr22 29807304-29830608
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 29807189 29807397 208 12
ER MCF7GSE19013 29803450 29803949 499 3605
FOXA1 MCF7GSE15244 29795552 29796089 537 11484
FOXA1 MCF7GSE15244 29806709 29807573 864 164
Fos K562GSE19551 29789440 29790444 1004 17363
H3ac HepG2E 29806417 29807071 654 561
HIF1 HypoHepG2 29805109 29805390 281 2055
Myc K562GSE19551 29789834 29790679 845 17048
PHF8 293TGSE20725 29806476 29807877 1401 128
PHF8 HeLaGSE20725 29806597 29807905 1308 54
USF1 HepG2E 29790112 29790459 347 17019
USF2 HepG2E 29790112 29790459 347 17019
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 29827956 29829016 1060 0
CTCF CD4GSE12889 29811142 29811488 346 0
CTCF CD4GSE12889 29815194 29815464 270 0
CTCF CD4SISSRdata 29811142 29811488 346 0
CTCF CD4SISSRdata 29815194 29815464 270 0
CTCF HelaGSE12889 29815181 29815502 321 0
CTCF JurkatGSE12889 29815120 29815469 349 0
Fos K562GSE19551 29828403 29828884 481 0
H3K4me3 colorectalcancer 29807717 29808096 379 0
NFkBII GM15510GSE19485 29810232 29811582 1350 0
P300 T30-glioblastomaGSE21026 29827621 29829645 2024 0
PHF8 HeLaGSE20725 29810057 29811648 1591 0
Rb GrowingGSE19898 29811175 29811277 102 0
Rb GrowingGSE19898 29828263 29828508 245 0
Rb QuiescentGSE19898 29810425 29810836 411 0
Rb QuiescentGSE19898 29828215 29828928 713 0
Rb SenescentGSE19898 29828239 29828891 652 0
Rb shRbSenescenceGSE19898 29828452 29828804 352 0
hScc1 BcellGSE12603 29808535 29809027 492 0
hScc1 BcellGSE12603 29810504 29811385 881 0
hScc1 BcellGSE12603 29814698 29816258 1560 0
hScc1 BcellGSE12603 29818174 29818389 215 0
hScc1 BcellGSE12603 29819345 29820489 1144 0
hScc1 CdLSGSE12603 29810617 29811261 644 0
hScc1 CdLSGSE12603 29814969 29815639 670 0
p130 QuiescentGSE19898 29810932 29811156 224 0
p130 QuiescentGSE19898 29828383 29828844 461 0
p130 SenescentGSE19898 29807893 29808233 340 0
p130 SenescentGSE19898 29828274 29828897 623 0
p130 shRbSenescentGSE19898 29828272 29828873 601 0
p63 keratinocytesGSE17611 29807150 29808495 1345 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-143 hsa-mir-143 5 20089806
hsa-miR-143* hsa-mir-143 5 20089806
hsa-miR-145 hsa-mir-145 5 20089806
hsa-miR-145* hsa-mir-145 5 20089806
No data
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
17347 mRNA SMTN chr22 29801858 29825163 131 mRNA chr22 29802695 29804105Sense/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


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