AutismKB 2.0

Annotation Detail for C12orf49


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Basic Information Top
Gene Symbol:C12orf49 ( FLJ21415 )
Gene Full Name: chromosome 12 open reading frame 49
Band: 12q24.22
Quick LinksEntrez ID:79794; OMIM: NA; Uniprot ID:CL049_HUMAN; ENSEMBL ID: ENSG00000111412; HGNC ID: 26128
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
67N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024738
  • Location:chr12 115637978-115660225
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 115659966 115660589 623 52
P300 T0-glioblastomaGSE21026 115659911 115660766 855 113
P300 T30-glioblastomaGSE21026 115659632 115660856 1224 19
PHF8 293TGSE20725 115659607 115660951 1344 54
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 115625497 115625827 330 12317
CTCF CD4GSE12889 115631124 115631505 381 6664
CTCF CD4SISSRdata 115625497 115625827 330 12317
CTCF CD4SISSRdata 115631124 115631505 381 6664
CTCF HelaGSE12889 115625480 115625717 237 12380
CTCF JurkatGSE12889 115625469 115625798 329 12345
CTCF JurkatGSE12889 115631172 115631396 224 6695
CTCF G2GSE9613 115618494 115619166 672 19149
CTCF G2GSE9613 115619620 115620496 876 17921
CTCF G2GSE9613 115625071 115625923 852 12482
CTCF G2GSE9613 115631084 115632024 940 6425
CTCF G2GSE9613 115632903 115633262 359 4896
FOXA1 DLD1GSE12801 115620163 115620827 664 17484
FOXA1 MCF7GSE15244 115619907 115620885 978 17583
GATA3 MCF7GSE15244 115625621 115625923 302 12207
NRSF pAbJurkat 115618989 115619166 177 18901
Oct4 hESGSE17917 115625516 115625713 197 12364
RARA MCF7GSE15244 115619620 115621159 1539 17589
RARA MCF7GSE15244 115624924 115625923 999 12555
RARG MCF7GSE15244 115619907 115621159 1252 17446
RARG MCF7GSE15244 115624999 115625923 924 12518
STAT1 IFNSISSRdata 115625463 115625839 376 12328
TFAP2C MCF7GSE21234 115625452 115625791 339 12357
hScc1 BcellGSE12603 115625178 115625923 745 12428
hScc1 BcellGSE12603 115631084 115631915 831 6479
hScc1 CdLSGSE12603 115625035 115625923 888 12500
hScc1 CdLSGSE12603 115630934 115631602 668 6711
hScc1 G2GSE9613 115618494 115619166 672 19149
hScc1 G2GSE9613 115624924 115625923 999 12555
hScc1 G2GSE9613 115630934 115632065 1131 6479
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 115657257 115657397 140 0
FOXA1 DLD1GSE12801 115658379 115658953 574 0
FOXA1 MCF7GSE15244 115656603 115657426 823 0
FOXA1 MCF7GSE15244 115658308 115658702 394 0
H3K4me3 colorectalcancer 115658379 115659270 891 0
H3ac HepG2E 115658379 115659457 1078 0
RARA MCF7GSE15244 115656603 115657397 794 0
RARA MCF7GSE15244 115658308 115658633 325 0
USF1 HepG2E 115656603 115657426 823 0
USF1 HepG2E 115658308 115659457 1149 0
USF2 HepG2E 115656603 115657426 823 0
USF2 HepG2E 115658308 115659457 1149 0
hScc1 BcellGSE12603 115659966 115660341 375 0
p130 QuiescentGSE19898 115659845 115660084 239 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
No data
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