AutismKB 2.0

Annotation Detail for MTHFSD


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Basic Information Top
Gene Symbol:MTHFSD ( FLJ12998,FLJ13893,MGC138262,MGC138264,MGC177233 )
Gene Full Name: methenyltetrahydrofolate synthetase domain containing
Band: 16q24.1
Quick LinksEntrez ID:64779; OMIM: NA; Uniprot ID:MTHSD_HUMAN; ENSEMBL ID: ENSG00000103248; HGNC ID: 25778
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022764
  • Location:chr16 85121283-85146341
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 85146663 85147109 446 545
H3K4me2 HCT116GSE10453 85147013 85147324 311 827
H3ac HepG2E 85146977 85147324 347 809
P300 T30-glioblastomaGSE21026 85145550 85147144 1594 6
TAFII hESGSE17917 85146124 85146749 625 95
p130 shRbSenescentGSE19898 85146099 85146781 682 99
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PAX3-FKHR Rh4GSE19063 85113340 85114572 1232 7328
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 85129267 85129767 500 0
ETS1 JurkatGSE17954 85145839 85146753 914 0
H3K4me3 colorectalcancer 85145632 85146080 448 0
H3ac HepG2E 85145520 85146080 560 0
KLF4 hESGSE17917 85146124 85146319 195 0
NRSF JurkatSISSRdata 85146240 85146391 151 0
Oct1 HelaGSE14283 85144458 85144526 68 0
P300 T0-glioblastomaGSE21026 85125825 85126774 949 0
P300 T30-glioblastomaGSE21026 85126032 85126767 735 0
PHF8 Hs68plusFBSGSE20725 85145738 85146907 1169 0
TAF HelaGSE8489 85132618 85133190 572 0
Validated miRNA targets Top
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