AutismKB 2.0

Annotation Detail for C2orf54


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Basic Information Top
Gene Symbol:C2orf54 ( FLJ22671,MGC150431,MGC150432 )
Gene Full Name: chromosome 2 open reading frame 54
Band: 2q37.3
Quick LinksEntrez ID:79919; OMIM: NA; Uniprot ID:CB054_HUMAN; ENSEMBL ID: ENSG00000172478; HGNC ID: 26216
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
383Phosphoserine.
Location(AA) Modifications Resource
383Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
9O-linkedHMM predict
128O-linkedHMM predict
233Phosphoserine(ATM)HMM predict
252Phosphotyrosine(Jak)HMM predict
330S-palmitoylHMM predict
331S-palmitoylHMM predict
383Phosphoserine(CDK)HMM predict
404O-linkedHMM predict
440ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024861
  • Location:chr2 241474138-241480124
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 241479774 241482576 2802 1051
CTCF G2GSE9613 241482908 241483164 256 2912
CTCF G2GSE9613 241483600 241484165 565 3758
CTCF G2GSE9613 241484791 241485076 285 4809
CTCF G2GSE9613 241486079 241486521 442 6176
CTCF G2GSE9613 241487363 241487581 218 7348
CTCF G2GSE9613 241490050 241490516 466 10159
CTCF G2GSE9613 241491394 241492048 654 11597
CTCF G2GSE9613 241493389 241494358 969 13749
CTCF G2GSE9613 241494764 241495076 312 14796
CTCF G2GSE9613 241496624 241496934 310 16655
CTCF G2GSE9613 241497648 241498226 578 17813
ER MCF7GSE19013 241481420 241482691 1271 1931
TFAP2C MCF7GSE21234 241481459 241482537 1078 1874
TFAP2C MCF7GSE21234 241486248 241486991 743 6495
hScc1 BcellGSE12603 241480688 241481172 484 806
hScc1 BcellGSE12603 241484745 241485147 402 4822
hScc1 BcellGSE12603 241494800 241495076 276 14814
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 241473852 241474068 216 179
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 241475317 241475802 485 0
CTCF G2GSE9613 241476306 241477205 899 0
CTCF G2GSE9613 241477840 241478733 893 0
ER MCF7GSE19013 241477366 241477851 485 0
hScc1 BcellGSE12603 241476270 241477350 1080 0
hScc1 BcellGSE12603 241479738 241480250 512 0
hScc1 G2GSE9613 241477943 241478733 790 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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