AutismKB 2.0

Annotation Detail for C2orf48


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Basic Information Top
Gene Symbol:C2orf48 ( FLJ25102 )
Gene Full Name: chromosome 2 open reading frame 48
Band: 2p25.1
Quick LinksEntrez ID:348738; OMIM: NA; Uniprot ID:CB048_HUMAN; ENSEMBL ID: ENSG00000163009; HGNC ID: 26322
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_182626
  • Location:chr2 10198959-10269306
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 10278301 10278850 549 9269
CTCF G2GSE9613 10271888 10272178 290 2727
CTCF G2GSE9613 10274802 10275159 357 5674
CTCF G2GSE9613 10277433 10277867 434 8344
CTCF G2GSE9613 10279914 10280128 214 10715
CTCF G2GSE9613 10281870 10282221 351 12739
Oct1 H2O2-HelaGSE14283 10274049 10274082 33 4759
Oct1 HelaGSE14283 10274049 10274086 37 4761
Oct1 HelaGSE14283 10275454 10275484 30 6163
TFAP2C MCF7GSE21234 10281621 10281954 333 12481
hScc1 BcellGSE12603 10275501 10275847 346 6368
hScc1 BcellGSE12603 10285169 10285309 140 15933
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 10198574 10200150 1576 0
CTCF CD4GSE12889 10200021 10200215 194 0
CTCF CD4SISSRdata 10200021 10200215 194 0
CTCF HelaGSE12889 10199941 10200204 263 0
CTCF G2GSE9613 10198635 10199594 959 0
CTCF G2GSE9613 10199849 10200409 560 0
CTCF G2GSE9613 10204034 10204253 219 0
CTCF G2GSE9613 10217334 10217525 191 0
CTCF G2GSE9613 10218077 10218614 537 0
CTCF G2GSE9613 10223801 10224081 280 0
CTCF G2GSE9613 10227077 10227672 595 0
CTCF G2GSE9613 10228425 10229641 1216 0
CTCF G2GSE9613 10230897 10231502 605 0
CTCF G2GSE9613 10231855 10232129 274 0
CTCF G2GSE9613 10245058 10245686 628 0
CTCF G2GSE9613 10246189 10247169 980 0
CTCF G2GSE9613 10248797 10249532 735 0
CTCF G2GSE9613 10252763 10254975 2212 0
CTCF G2GSE9613 10261702 10262152 450 0
CTCF G2GSE9613 10266394 10266578 184 0
ER Breast-CancerGSE22609 10248677 10249226 549 0
ETS1 JurkatGSE17954 10199169 10200018 849 0
FoxA1 MCF7MACSdata 10208096 10208269 173 0
Oct1 H2O2-HelaGSE14283 10237465 10237500 35 0
Oct1 HelaGSE14283 10220999 10221032 33 0
Oct1 HelaGSE14283 10237467 10237499 32 0
P300 T30-glioblastomaGSE21026 10227583 10228405 822 0
TFAP2C MCF7GSE21234 10200827 10201327 500 0
hScc1 BcellGSE12603 10199813 10200409 596 0
hScc1 BcellGSE12603 10204034 10204253 219 0
hScc1 BcellGSE12603 10218292 10218614 322 0
hScc1 BcellGSE12603 10218935 10219148 213 0
hScc1 BcellGSE12603 10253884 10254908 1024 0
hScc1 BcellGSE12603 10266426 10266578 152 0
hScc1 CdLSGSE12603 10199885 10200325 440 0
hScc1 G2GSE9613 10198715 10200362 1647 0
hScc1 G2GSE9613 10246302 10246869 567 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