AutismKB 2.0

Annotation Detail for TMEM117


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Basic Information Top
Gene Symbol:TMEM117 ( DKFZp434K2435 )
Gene Full Name: transmembrane protein 117
Band: 12q12
Quick LinksEntrez ID:84216; OMIM: NA; Uniprot ID:TM117_HUMAN; ENSEMBL ID: ENSG00000139173; HGNC ID: 25308
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
353N-linked (GlcNAc...) (Potential).
371N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
353N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
371N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
36Phosphoserine(IKK)HMM predict
36O-linkedHMM predict
38Phosphoserine(IKK)HMM predict
333SulfotyrosineHMM predict
333Phosphotyrosine(INSR)HMM predict
348Phosphoserine(CK1)HMM predict
353N-linkedHMM predict
364N-linkedHMM predict
367N-linkedHMM predict
371N-linkedHMM predict
374Phosphotyrosine(INSR)HMM predict
431Phosphotyrosine(INSR)HMM predict
440Phosphoserine(CK2)HMM predict
443Phosphoserine(PKA)HMM predict
487N-linkedHMM predict
493N-linkedHMM predict
497Phosphoserine(CK2)HMM predict
508O-linkedHMM predict
508Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032256
  • Location:chr12 42516228-43069806
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 42515569 42516682 1113 103
FOXA1 MCF7GSE15244 42504483 42504693 210 11641
FOXA1 MCF7GSE15244 42510187 42510359 172 5956
Nanog hESGSE18292 42503821 42504385 564 12126
Oct1 HelaGSE14283 42510819 42510904 85 5367
PHF8 HeLaGSE20725 42515538 42516807 1269 56
Sox2 hESGSE18292 42503859 42504093 234 12253
hScc1 BcellGSE12603 42515718 42516576 858 82
hScc1 G2GSE9613 42515569 42516501 932 194
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 43085158 43085660 502 15603
Oct1 H2O2-HelaGSE14283 43079480 43079507 27 9687
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 42562728 42562993 265 0
CTCF CD4GSE12889 42637847 42638130 283 0
CTCF CD4GSE12889 42695463 42695786 323 0
CTCF CD4SISSRdata 42562728 42562993 265 0
CTCF CD4SISSRdata 42637847 42638130 283 0
CTCF CD4SISSRdata 42695463 42695786 323 0
CTCF G2GSE9613 42562560 42563017 457 0
CTCF G2GSE9613 42680477 42681047 570 0
CTCF G2GSE9613 42681579 42681846 267 0
CTCF G2GSE9613 42695553 42695771 218 0
ER E2-MCF7GSE14664 42902323 42902412 89 0
FOXA1 DLD1GSE12801 42746340 42746513 173 0
FOXA1 MCF7GSE15244 42680477 42681153 676 0
FOXA1 MCF7GSE15244 42746340 42746513 173 0
Fos K562GSE19551 42652610 42652838 228 0
H3ac HepG2E 42516501 42517376 875 0
IGF1R DFBGSE23792 42528826 42529402 576 0
Myc K562GSE19551 42562728 42562910 182 0
Nanog ESGSE20650 42659429 42660061 632 0
Nanog hESGSE18292 42621728 42622288 560 0
Nanog hESGSE18292 42637933 42638140 207 0
Nanog hESGSE18292 42941668 42942075 407 0
Nanog hESGSE18292 42997730 42997927 197 0
Oct1 H2O2-HelaGSE14283 42602674 42602706 32 0
Oct1 H2O2-HelaGSE14283 42648075 42648113 38 0
Oct1 H2O2-HelaGSE14283 42648156 42648185 29 0
Oct1 H2O2-HelaGSE14283 42696056 42696091 35 0
Oct1 H2O2-HelaGSE14283 42764224 42764262 38 0
Oct1 H2O2-HelaGSE14283 42776398 42776425 27 0
Oct1 H2O2-HelaGSE14283 42874722 42874754 32 0
Oct1 HelaGSE14283 42602676 42602706 30 0
Oct1 HelaGSE14283 42648077 42648112 35 0
Oct1 HelaGSE14283 42696045 42696092 47 0
Oct1 HelaGSE14283 42715068 42715105 37 0
Oct1 HelaGSE14283 42764224 42764261 37 0
Oct1 HelaGSE14283 42776393 42776428 35 0
Oct1 HelaGSE14283 42797325 42797355 30 0
Oct1 HelaGSE14283 42893381 42893420 39 0
Oct1 HelaGSE14283 42916595 42916633 38 0
Oct1 HelaGSE14283 42937477 42937504 27 0
Oct1 HelaGSE14283 43025680 43025709 29 0
Oct4 ESGSE20650 42601751 42602045 294 0
Oct4 hESGSE21916 42601741 42602144 403 0
RARG MCF7GSE15244 42576666 42577238 572 0
Rb QuiescentGSE19898 42516441 42516753 312 0
Rb SenescentGSE19898 42516366 42516627 261 0
Rb shRbSenescenceGSE19898 42520599 42520803 204 0
Sox2 hESGSE18292 42637937 42638287 350 0
TAF HelaGSE8489 42516459 42517322 863 0
TAF HelaGSE8489 42616915 42617365 450 0
TFAP2C MCF7GSE21234 42528101 42528507 406 0
TFAP2C MCF7GSE21234 43052280 43052704 424 0
hScc1 BcellGSE12603 42562560 42563163 603 0
hScc1 BcellGSE12603 42695397 42695842 445 0
hScc1 CdLSGSE12603 42562560 42563203 643 0
hScc1 CdLSGSE12603 42637785 42638551 766 0
hScc1 CdLSGSE12603 42695397 42695883 486 0
hScc1 G2GSE9613 42527721 42527862 141 0
hScc1 G2GSE9613 42562560 42563163 603 0
hScc1 G2GSE9613 42695517 42695842 325 0
p130 shRbQuiescentGSE19898 42516409 42516923 514 0
p63 keratinocytesGSE17611 42564855 42565573 718 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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