AutismKB 2.0

Annotation Detail for FAM54A


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Basic Information Top
Gene Symbol:FAM54A ( DUFD1 )
Gene Full Name: family with sequence similarity 54, member A
Band: 6q23.3
Quick LinksEntrez ID:113115; OMIM: NA; Uniprot ID:FA54A_HUMAN; ENSEMBL ID: ENSG00000146410; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
31Phosphotyrosine(INSR)HMM predict
90Phosphotyrosine(EGFR)HMM predict
119Phosphoserine(MAPK)HMM predict
167N-linkedHMM predict
170N-linkedHMM predict
195Phosphoserine(ATM)HMM predict
207O-linkedHMM predict
207Phosphoserine(ATM)HMM predict
207Phosphoserine(CDC2)HMM predict
219O-linkedHMM predict
254N-linkedHMM predict
257N-linkedHMM predict
333N-linkedHMM predict
339Phosphoserine(CDC2)HMM predict
343Phosphoserine(CDK)HMM predict
343Phosphoserine(CDC2)HMM predict
354Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138419
  • Location:chr6 136593860-136613141
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 136612680 136613629 949 13
Fos K562GSE19551 136612833 136613814 981 182
P300 T30-glioblastomaGSE21026 136612928 136613766 838 206
RARA MCF7GSE15244 136612388 136613896 1508 1
TFAP2C MCF7GSE21234 136612716 136613722 1006 78
p130 shRbQuiescentGSE19898 136612616 136613820 1204 77
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 136589031 136589425 394 4633
CTCF CD4SISSRdata 136589031 136589425 394 4633
CTCF G2GSE9613 136589016 136589389 373 4658
Gata2 K562GSE18868 136589295 136589985 690 4221
hScc1 BcellGSE12603 136589016 136589389 373 4658
hScc1 CdLSGSE12603 136588743 136589389 646 4795
hScc1 G2GSE9613 136588678 136589389 711 4827
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 136612680 136613129 449 0
E2F4 SGSE7516 136612680 136613555 875 0
ER E2-MCF7GSE14664 136610977 136611024 47 0
ETS1 JurkatGSE17954 136612391 136613836 1445 0
Gata2 K562GSE18868 136597240 136597904 664 0
H3K4me3 colorectalcancer 136612680 136613229 549 0
H3ac HepG2E 136611491 136614726 3235 0
LIN54 G0GSE7516 136612388 136613555 1167 0
LIN54 SGSE7516 136612680 136613416 736 0
LIN9 G0GSE7516 136611850 136613859 2009 0
LIN9 SGSE7516 136612166 136613665 1499 0
Oct1 H2O2-HelaGSE14283 136610978 136611008 30 0
Oct1 HelaGSE14283 136597376 136597413 37 0
Oct1 HelaGSE14283 136610977 136611009 32 0
PHF8 HeLaGSE20725 136612542 136613646 1104 0
RNAII Tamoxifen-MCF7GSE14664 136610974 136611012 38 0
Rb SenescentGSE19898 136612956 136613294 338 0
TAF k562GSE8489 136611491 136613416 1925 0
hScc1 G2GSE9613 136598285 136598443 158 0
hScc1 G2GSE9613 136612680 136613093 413 0
p130 QuiescentGSE19898 136612666 136613427 761 0
p130 SenescentGSE19898 136612551 136613653 1102 0
p130 shRbSenescentGSE19898 136612553 136613548 995 0
p130 G0GSE7516 136612166 136613665 1499 0
p130 SGSE7516 136612306 136613555 1249 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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