AutismKB 2.0

Annotation Detail for RFX1


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Basic Information Top
Gene Symbol:RFX1 ( EFC,RFX )
Gene Full Name: regulatory factor X, 1 (influences HLA class II expression)
Band: 19p13.12
Quick LinksEntrez ID:5989; OMIM: 600006; Uniprot ID:RFX1_HUMAN; ENSEMBL ID: ENSG00000132005; HGNC ID: 9982
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
120Phosphoserine.
159Phosphoserine.
Location(AA) Modifications Resource
120Phosphoserine.Swiss-Prot 53.0
120PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
16Phosphoserine(ATM)HMM predict
16O-linkedHMM predict
45O-linkedHMM predict
45O-linkedHMM predict
49Phosphothreonine(MAPK)HMM predict
85O-linkedHMM predict
85Phosphoserine(ATM)HMM predict
88O-linkedHMM predict
92O-linkedHMM predict
92O-linkedHMM predict
92O-linkedHMM predict
92Phosphothreonine(MAPK)HMM predict
94Phosphoserine(CDC2)HMM predict
94O-linkedHMM predict
94Phosphoserine(MAPK)HMM predict
94Phosphoserine(CDK)HMM predict
117O-linkedHMM predict
117Phosphoserine(IKK)HMM predict
120O-linkedHMM predict
123Phosphoserine(IKK)HMM predict
123O-linkedHMM predict
124O-linkedHMM predict
126O-linkedHMM predict
126Phosphoserine(IKK)HMM predict
128O-linkedHMM predict
204Phosphoserine(MAPK)HMM predict
214N-linkedHMM predict
217Phosphoserine(CK1)HMM predict
218Phosphoserine(CK1)HMM predict
218O-linkedHMM predict
220O-linkedHMM predict
227O-linkedHMM predict
291Phosphotyrosine(Abl)HMM predict
315Phosphotyrosine(SRC)HMM predict
316Phosphoserine(IKK)HMM predict
320O-linkedHMM predict
320Phosphothreonine(MAPK)HMM predict
324O-linkedHMM predict
332Phosphotyrosine(Syk)HMM predict
339O-linkedHMM predict
342O-linkedHMM predict
342O-linkedHMM predict
343O-linkedHMM predict
368O-linkedHMM predict
371O-linkedHMM predict
378N-linkedHMM predict
400O-linkedHMM predict
402O-linkedHMM predict
408O-linkedHMM predict
419Phosphotyrosine(INSR)HMM predict
423O-linkedHMM predict
425Phosphoserine(ATM)HMM predict
431Phosphothreonine(PKC)HMM predict
431O-linkedHMM predict
435Phosphoserine(CDC2)HMM predict
535Phosphoserine(ATM)HMM predict
642N-linkedHMM predict
644Phosphoserine(ATM)HMM predict
747Phosphothreonine(PKC)HMM predict
817Phosphoserine(CK1)HMM predict
933Phosphoserine(CK2)HMM predict
933Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002918
  • Location:chr19 13933352-13978096
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 13978997 13979191 194 998
ER Breast-CancerGSE22609 13978739 13979270 531 908
ETS1 JurkatGSE17954 13978003 13979087 1084 449
Gata1 K562GSE18868 13978586 13979286 700 840
Gata2 K562GSE18868 13978522 13979367 845 848
Myc K562GSE19551 13987226 13987600 374 9317
P300 T0-glioblastomaGSE21026 13978052 13979259 1207 559
P300 T30-glioblastomaGSE21026 13977091 13979445 2354 172
Rb GrowingGSE19898 13978362 13978660 298 415
Rb QuiescentGSE19898 13978268 13978675 407 375
Rb SenescentGSE19898 13978124 13978798 674 365
Rb shRbSenescenceGSE19898 13978344 13978636 292 394
Rb shRbSenescenceGSE19898 13978721 13978969 248 749
hScc1 BcellGSE12603 13977295 13979191 1896 147
p130 QuiescentGSE19898 13977783 13979241 1458 416
p130 SenescentGSE19898 13977910 13978943 1033 330
p130 shRbQuiescentGSE19898 13978081 13979276 1195 582
p130 shRbSenescentGSE19898 13977902 13979256 1354 483
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 13954503 13955824 1321 0
CBP JurkatGSE17954 13957045 13959458 2413 0
CTCF G2GSE9613 13934488 13935003 515 0
CTCF G2GSE9613 13960115 13960500 385 0
CTCF G2GSE9613 13977490 13977787 297 0
ETS1 JurkatGSE17954 13957697 13959297 1600 0
Fos K562GSE19551 13945835 13946262 427 0
Oct1 HelaGSE14283 13959425 13959457 32 0
Oct1 HelaGSE14283 13975485 13975523 38 0
TFAP2C MCF7GSE21234 13952639 13953163 524 0
USF1 HepG2E 13976594 13977257 663 0
hScc1 BcellGSE12603 13935069 13935700 631 0
hScc1 BcellGSE12603 13944407 13944888 481 0
hScc1 BcellGSE12603 13957755 13958330 575 0
hScc1 BcellGSE12603 13960241 13960523 282 0
p130 QuiescentGSE19898 13977492 13977662 170 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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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