AutismKB 2.0

Annotation Detail for C18orf54


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Basic Information Top
Gene Symbol:C18orf54 ( LAS2,MGC33382 )
Gene Full Name: chromosome 18 open reading frame 54
Band: 18q21.2
Quick LinksEntrez ID:162681; OMIM: 613258; Uniprot ID:CR054_HUMAN; ENSEMBL ID: ENSG00000166845; HGNC ID: 13796
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
6Phosphothreonine(PKC)HMM predict
12Phosphoserine(ATM)HMM predict
16Phosphoserine(IKK)HMM predict
29Phosphoserine(IKK)HMM predict
30N-linkedHMM predict
33N-linkedHMM predict
45Phosphotyrosine(INSR)HMM predict
81N-linkedHMM predict
87N-linkedHMM predict
122Phosphoserine(IKK)HMM predict
124Phosphothreonine(CK2)HMM predict
227Phosphoserine(IKK)HMM predict
249Phosphoserine(CDC2)HMM predict
262Phosphothreonine(PKC)HMM predict
267Phosphoserine(PKG)HMM predict
280N-linkedHMM predict
314N-linkedHMM predict
332Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_173529
  • Location:chr18 50139168-50162378
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50138038 50138313 275 993
CTCF CD4SISSRdata 50138038 50138313 275 993
CTCF HelaGSE12889 50138104 50138279 175 977
CTCF G2GSE9613 50137916 50138862 946 780
E2F4 G0GSE7516 50137843 50138897 1054 799
ER E2-MCF7GSE14664 50138519 50138558 39 630
H3K4me3 colorectalcancer 50138345 50139469 1124 262
H3ac HepG2E 50138384 50139173 789 390
LIN9 G0GSE7516 50137880 50139469 1589 494
LIN9 SGSE7516 50137952 50139173 1221 606
Rb GrowingGSE19898 50138002 50138355 353 990
Rb QuiescentGSE19898 50138039 50138439 400 930
Rb shRbQuiescentGSE19898 50137933 50138272 339 1066
hScc1 BcellGSE12603 50137810 50139153 1343 687
p130 QuiescentGSE19898 50137824 50138578 754 968
p130 SenescentGSE19898 50137828 50138800 972 855
p130 shRbQuiescentGSE19898 50137807 50138503 696 1014
p130 shRbSenescentGSE19898 50137783 50138977 1194 789
p130 G0GSE7516 50137810 50139153 1343 687
p130 SGSE7516 50138050 50138545 495 871
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50172893 50173244 351 10690
CTCF CD4SISSRdata 50172893 50173244 351 10690
Fos K562GSE19551 50169060 50169609 549 6956
P300 T30-glioblastomaGSE21026 50168976 50169462 486 6841
hScc1 BcellGSE12603 50172991 50173275 284 10755
hScc1 CdLSGSE12603 50172991 50173351 360 10793
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 50146653 50146738 85 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