AutismKB 2.0

Annotation Detail for TMEM70


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Basic Information Top
Gene Symbol:TMEM70 ( FLJ20533 )
Gene Full Name: transmembrane protein 70
Band: 8q21.11
Quick LinksEntrez ID:54968; OMIM: 612418; Uniprot ID:TMM70_HUMAN; ENSEMBL ID: ENSG00000175606; HGNC ID: 26050
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
37O-linkedHMM predict
37O-linkedHMM predict
40O-linkedHMM predict
40Phosphoserine(CK2)HMM predict
41Phosphoserine(CK1)HMM predict
41Phosphoserine(CDC2)HMM predict
41Phosphoserine(IKK)HMM predict
42O-linkedHMM predict
43Phosphoserine(CK1)HMM predict
43Phosphoserine(ATM)HMM predict
46O-linkedHMM predict
178O-linkedHMM predict
232SulfotyrosineHMM predict
247MethionineHMM predict
250Phosphothreonine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001040613
  • Location:chr8 75050983-75057564
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 75050299 75050582 283 543
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 75059893 75060250 357 2507
Oct4 hESGSE21916 75059701 75060270 569 2421
Sox2 hESGSE18292 75059919 75060287 368 2539
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 75050728 75051251 523 0
H3K4me3 colorectalcancer 75051322 75051944 622 0
H3ac HepG2E 75051366 75051944 578 0
PHF8 293TGSE20725 75050490 75051812 1322 0
PHF8 HeLaGSE20725 75050449 75051608 1159 0
hScc1 BcellGSE12603 75050964 75051366 402 0
hScc1 CdLSGSE12603 75050688 75051322 634 0
p130 SenescentGSE19898 75050972 75051147 175 0
p130 shRbSenescentGSE19898 75051288 75051564 276 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


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