AutismKB 2.0

Annotation Detail for RFC1


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Basic Information Top
Gene Symbol:RFC1 ( A1,MGC51786,MHCBFB,PO-GA,RECC1,RFC,RFC140 )
Gene Full Name: replication factor C (activator 1) 1, 145kDa
Band: 4p14
Quick LinksEntrez ID:5981; OMIM: 102579; Uniprot ID:RFC1_HUMAN; ENSEMBL ID: ENSG00000035928; HGNC ID: 9969
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
67Phosphotyrosine.
69Phosphoserine.
71Phosphoserine.
73Phosphoserine.
108Phosphoserine.
110Phosphothreonine.
156Phosphoserine.
161Phosphothreonine.
163Phosphothreonine.
164Phosphoserine.
171Phosphothreonine.
173Phosphoserine.
190Phosphoserine.
281Phosphoserine.
283Phosphoserine.
312Phosphoserine.
634N6-acetyllysine.
670Phosphotyrosine.
672Phosphotyrosine.
1124Nuclear localization signal (Potential).
Location(AA) Modifications Resource
69Phosphoserine.Swiss-Prot 53.0
69PhosphoserinePhospho.ELM 6.0
71PhosphoserinePhospho.ELM 6.0
71Phosphoserine.Swiss-Prot 53.0
73PhosphoserinePhospho.ELM 6.0
73Phosphoserine.Swiss-Prot 53.0
108PhosphoserinePhospho.ELM 6.0
108Phosphoserine.Swiss-Prot 53.0
110Phosphothreonine (By similarity).Swiss-Prot 53.0
156Phosphoserine.Swiss-Prot 53.0
161Phosphothreonine.Swiss-Prot 53.0
161PhosphothreoninePhospho.ELM 6.0
173PhosphoserinePhospho.ELM 6.0
173Phosphoserine.Swiss-Prot 53.0
190PhosphoserinePhospho.ELM 6.0
190Phosphoserine.Swiss-Prot 53.0
520PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
29Phosphoserine(CK2)HMM predict
46N-linkedHMM predict
60Phosphoserine(PKC)HMM predict
69Phosphoserine(CK2)HMM predict
73Phosphoserine(CK1)HMM predict
156Phosphoserine(CDC2)HMM predict
156PhosphoserineHMM predict
161Phosphothreonine(MAPK)HMM predict
190Phosphoserine(ATM)HMM predict
238Phosphothreonine(PKC)HMM predict
245Phosphothreonine(PKA)HMM predict
282Phosphotyrosine(Jak)HMM predict
283Phosphoserine(CDK)HMM predict
283Phosphoserine(CDC2)HMM predict
288Phosphoserine(PKG)HMM predict
292Phosphoserine(CK2)HMM predict
293Phosphoserine(CK1)HMM predict
296Phosphoserine(ATM)HMM predict
300Phosphoserine(IKK)HMM predict
330Phosphotyrosine(SRC)HMM predict
330Phosphotyrosine(Syk)HMM predict
330Phosphotyrosine(EGFR)HMM predict
330Phosphotyrosine(INSR)HMM predict
353Phosphothreonine(MAPK)HMM predict
353Phosphothreonine(CDC2)HMM predict
353Phosphothreonine(CDK)HMM predict
357Phosphothreonine(PKC)HMM predict
360Phosphoserine(CDC2)HMM predict
360Phosphoserine(CDK)HMM predict
366Phosphoserine(PKG)HMM predict
368PhosphoserineHMM predict
368Phosphoserine(IKK)HMM predict
368Phosphoserine(ATM)HMM predict
447Phosphotyrosine(INSR)HMM predict
506Phosphothreonine(CDK)HMM predict
506Phosphothreonine(CDC2)HMM predict
518Phosphoserine(PKG)HMM predict
518Phosphoserine(CDC2)HMM predict
533Phosphoserine(IKK)HMM predict
577Phosphoserine(CK1)HMM predict
622PhosphoserineHMM predict
658O-linkedHMM predict
676N-linkedHMM predict
680Phosphothreonine(PKC)HMM predict
682Phosphoserine(CK1)HMM predict
682Phosphoserine(IKK)HMM predict
695N-linkedHMM predict
696N-linkedHMM predict
709O-linkedHMM predict
710O-linkedHMM predict
1012Phosphoserine(ATM)HMM predict
1029Phosphotyrosine(Jak)HMM predict
1029SulfotyrosineHMM predict
1049Phosphoserine(CDK)HMM predict
1049Phosphoserine(CDC2)HMM predict
1073Phosphothreonine(MAPK)HMM predict
1086Phosphoserine(PKA)HMM predict
1086Phosphoserine(IKK)HMM predict
1088Phosphoserine(MAPK)HMM predict
1095Phosphotyrosine(Syk)HMM predict
1104PhosphoserineHMM predict
1104Phosphoserine(ATM)HMM predict
1106Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002913
  • Location:chr4 38965470-39044389
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 39045047 39045275 228 772
Rb shRbSenescenceGSE19898 39044175 39044709 534 53
TFAP2C MCF7GSE21234 39044284 39044836 552 171
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38978000 38978411 411 0
CTCF G2GSE9613 38985241 38985412 171 0
CTCF G2GSE9613 39044105 39044450 345 0
ER E2-MCF7GSE14664 39025007 39025047 40 0
Fos K562GSE19551 38997579 38998097 518 0
H3K4me3 colorectalcancer 39042929 39044029 1100 0
H3ac HepG2E 39021491 39021781 290 0
H3ac HepG2E 39042130 39044709 2579 0
Myc K562GSE19551 39043820 39044626 806 0
Myc hESGSE17917 39044165 39044509 344 0
Oct1 H2O2-HelaGSE14283 39015241 39015301 60 0
Oct1 HelaGSE14283 39025007 39025046 39 0
PHF8 293TGSE20725 39043944 39044718 774 0
Rb QuiescentGSE19898 39044165 39044570 405 0
Rb SenescentGSE19898 39043831 39044716 885 0
Rb shRbQuiescentGSE19898 39044267 39044508 241 0
TFAP2C MCF7GSE21234 38978823 38979271 448 0
hScc1 BcellGSE12603 39043876 39044421 545 0
p130 QuiescentGSE19898 39043824 39044686 862 0
p130 SenescentGSE19898 39043686 39044688 1002 0
p130 shRbQuiescentGSE19898 39043717 39044646 929 0
p130 shRbSenescentGSE19898 39043729 39044746 1017 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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