AutismKB 2.0

Annotation Detail for AFF4


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Basic Information Top
Gene Symbol:AFF4 ( AF5Q31,MCEF,MGC75036 )
Gene Full Name: AF4/FMR2 family, member 4
Band: 5q31.1
Quick LinksEntrez ID:27125; OMIM: 604417; Uniprot ID:AFF4_HUMAN; ENSEMBL ID: ENSG00000072364; HGNC ID: 17869
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
31Phosphoserine.
32Phosphoserine.
79N6-acetyllysine.
124Phosphoserine.
178Phosphoserine.
210Phosphoserine.
212Phosphoserine.
222Phosphoserine.
387Phosphoserine.
388Phosphoserine.
389Phosphoserine.
392Phosphoserine.
487Phosphoserine.
491Phosphoserine.
499Phosphoserine.
514Phosphoserine.
528Phosphothreonine.
549Phosphoserine.
599Phosphoserine.
617Phosphoserine.
668Phosphotyrosine.
671Phosphoserine.
674Phosphothreonine.
694Phosphoserine.
703Phosphoserine.
706Phosphoserine.
712Phosphotyrosine.
814Phosphoserine.
836Phosphoserine.
1043Phosphoserine.
1055Phosphoserine.
1058Phosphoserine.
1062Phosphoserine.
Location(AA) Modifications Resource
387Phosphoserine.Swiss-Prot 53.0
387PhosphoserinePhospho.ELM 6.0
388Phosphoserine.Swiss-Prot 53.0
388PhosphoserinePhospho.ELM 6.0
389Phosphoserine.Swiss-Prot 53.0
389PhosphoserinePhospho.ELM 6.0
392Phosphoserine.Swiss-Prot 53.0
392PhosphoserinePhospho.ELM 6.0
549PhosphoserinePhospho.ELM 6.0
549Phosphoserine.Swiss-Prot 53.0
703Phosphoserine.Swiss-Prot 53.0
706Phosphoserine.Swiss-Prot 53.0
1043PhosphoserinePhospho.ELM 6.0
1058PhosphoserinePhospho.ELM 6.0
1062PhosphoserinePhospho.ELM 6.0
1066PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
32Phosphoserine(CDC2)HMM predict
49Phosphoserine(CK1)HMM predict
59Phosphotyrosine(INSR)HMM predict
59SulfotyrosineHMM predict
81O-linkedHMM predict
116O-linkedHMM predict
118O-linkedHMM predict
118Phosphoserine(ATM)HMM predict
120Phosphoserine(ATM)HMM predict
125Phosphoserine(CK1)HMM predict
133Phosphoserine(ATM)HMM predict
136O-linkedHMM predict
137Phosphoserine(IKK)HMM predict
142O-linkedHMM predict
145N-linkedHMM predict
157N-linkedHMM predict
158N-linkedHMM predict
161Phosphoserine(CDC2)HMM predict
162Phosphoserine(CDC2)HMM predict
162Phosphoserine(CDK)HMM predict
174Phosphoserine(CK1)HMM predict
179Phosphoserine(CK1)HMM predict
180Phosphoserine(CDC2)HMM predict
180Phosphoserine(CDK)HMM predict
180Phosphoserine(ATM)HMM predict
180Phosphoserine(IKK)HMM predict
191N-linkedHMM predict
195Phosphoserine(CK1)HMM predict
204Phosphoserine(CK1)HMM predict
212Phosphoserine(CDC2)HMM predict
212Phosphoserine(CDK)HMM predict
212Phosphoserine(PKB)HMM predict
229O-linkedHMM predict
229O-linkedHMM predict
230Phosphoserine(CDK)HMM predict
237Phosphoserine(IKK)HMM predict
244Phosphoserine(CK1)HMM predict
271Phosphoserine(CK1)HMM predict
275Phosphotyrosine(INSR)HMM predict
277Phosphoserine(ATM)HMM predict
326Phosphoserine(IKK)HMM predict
336Phosphothreonine(CDK)HMM predict
336PhosphothreonineHMM predict
343O-linkedHMM predict
366N-linkedHMM predict
372N-linkedHMM predict
387Phosphoserine(CK2)HMM predict
389Phosphoserine(ATM)HMM predict
392Phosphoserine(CK1)HMM predict
392Phosphoserine(CK2)HMM predict
409O-linkedHMM predict
409Phosphoserine(IKK)HMM predict
428Phosphoserine(CK1)HMM predict
428Phosphoserine(IKK)HMM predict
429Phosphoserine(CK1)HMM predict
430Phosphoserine(CK1)HMM predict
432Phosphoserine(CK1)HMM predict
432Phosphoserine(IKK)HMM predict
434Phosphoserine(CAMK2)HMM predict
434Phosphoserine(IKK)HMM predict
438Phosphoserine(ATM)HMM predict
438Phosphoserine(IKK)HMM predict
442Phosphoserine(CK2)HMM predict
442Phosphoserine(IKK)HMM predict
444Phosphoserine(IKK)HMM predict
447Phosphoserine(CK1)HMM predict
449Phosphoserine(CK1)HMM predict
449Phosphoserine(CK2)HMM predict
449Phosphoserine(ATM)HMM predict
457Phosphoserine(CK1)HMM predict
457Phosphoserine(ATM)HMM predict
461O-linkedHMM predict
461Phosphoserine(CDC2)HMM predict
461Phosphoserine(MAPK)HMM predict
461Phosphoserine(CDK)HMM predict
461Phosphoserine(ATM)HMM predict
487Phosphoserine(CDC2)HMM predict
487Phosphoserine(IKK)HMM predict
499Phosphoserine(ATM)HMM predict
502Phosphotyrosine(INSR)HMM predict
502Phosphotyrosine(Syk)HMM predict
524O-linkedHMM predict
525Phosphoserine(IKK)HMM predict
528Phosphothreonine(MAPK)HMM predict
528Phosphothreonine(CDK)HMM predict
544MethylarginineHMM predict
549Phosphoserine(CAMK2)HMM predict
549Phosphoserine(IKK)HMM predict
549Phosphoserine(PKB)HMM predict
557Phosphothreonine(PKC)HMM predict
561Phosphothreonine(PKC)HMM predict
605Phosphothreonine(PKC)HMM predict
619Phosphoserine(CK1)HMM predict
620Phosphoserine(CDC2)HMM predict
624Phosphothreonine(PKC)HMM predict
633Phosphothreonine(PKC)HMM predict
636Phosphoserine(CDC2)HMM predict
637Phosphoserine(ATM)HMM predict
653Phosphoserine(ATM)HMM predict
656Phosphoserine(CK1)HMM predict
662Phosphoserine(CDK)HMM predict
663Phosphoserine(ATM)HMM predict
665Phosphothreonine(CDC2)HMM predict
672N-linkedHMM predict
674Phosphothreonine(CDC2)HMM predict
703Phosphoserine(MAPK)HMM predict
706Phosphoserine(CK2)HMM predict
777Phosphoserine(CK2)HMM predict
800Phosphoserine(CK1)HMM predict
801Phosphoserine(CK1)HMM predict
804Phosphoserine(PKG)HMM predict
814Phosphoserine(CDC2)HMM predict
814Phosphoserine(MAPK)HMM predict
834Phosphothreonine(PKC)HMM predict
836Phosphoserine(PKG)HMM predict
836Phosphoserine(CAMK2)HMM predict
836Phosphoserine(ATM)HMM predict
836Phosphoserine(IKK)HMM predict
840O-linkedHMM predict
840Phosphoserine(IKK)HMM predict
847Phosphoserine(IKK)HMM predict
852Phosphoserine(CK2)HMM predict
855O-linkedHMM predict
857N-linkedHMM predict
860Phosphoserine(CK1)HMM predict
861Phosphothreonine(PKC)HMM predict
862Phosphoserine(CDK)HMM predict
884Phosphoserine(CK1)HMM predict
884Phosphoserine(CK2)HMM predict
884PhosphoserineHMM predict
886O-linkedHMM predict
887Phosphoserine(IKK)HMM predict
895Phosphothreonine(PKC)HMM predict
912N-linkedHMM predict
918SulfotyrosineHMM predict
965Phosphoserine(CDC2)HMM predict
965Phosphoserine(ATM)HMM predict
986Phosphotyrosine(INSR)HMM predict
999Phosphothreonine(PKC)HMM predict
1037N-linkedHMM predict
1038N-linkedHMM predict
1039Phosphoserine(ATM)HMM predict
1043Phosphoserine(CDC2)HMM predict
1048O-linkedHMM predict
1055Phosphoserine(CDC2)HMM predict
1055Phosphoserine(CDK)HMM predict
1058Phosphoserine(MAPK)HMM predict
1058Phosphoserine(IKK)HMM predict
1062Phosphoserine(CDC2)HMM predict
1069Phosphotyrosine(INSR)HMM predict
1070O-linkedHMM predict
1075O-linkedHMM predict
1077Phosphoserine(IKK)HMM predict
1079O-linkedHMM predict
1079O-linkedHMM predict
1079Phosphoserine(IKK)HMM predict
1081O-linkedHMM predict
1117Phosphoserine(CK1)HMM predict
1156ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014423
  • Location:chr5 132238970-132327252
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 132335637 132336036 399 8584
Fos K562GSE19551 132326872 132327776 904 72
STAT1 HeLaGSE12782 132334785 132337221 2436 8751
STAT1 HeLaGSE12783 132334785 132337254 2469 8767
STAT1 IFNSISSRdata 132335358 132336796 1438 8825
USF1 HepG2E 132327580 132327761 181 418
p130 shRbQuiescentGSE19898 132327087 132327841 754 212
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 132246903 132247118 215 0
CTCF CD4SISSRdata 132246903 132247118 215 0
CTCF G2GSE9613 132246927 132247175 248 0
CTCF G2GSE9613 132298060 132298199 139 0
CTCF G2GSE9613 132326863 132327186 323 0
FoxA1 MCF7MACSdata 132269670 132269889 219 0
H3K4me3 colorectalcancer 132325704 132326558 854 0
H3ac HepG2E 132325127 132326748 1621 0
PHF8 HeLaGSE20725 132325780 132328010 2230 0
PHF8 Hs68minusFBSGSE20725 132325904 132327913 2009 0
PHF8 Hs68plusFBSGSE20725 132325943 132327987 2044 0
TAF HelaGSE8489 132293531 132294297 766 0
TAF HelaGSE8489 132325127 132326486 1359 0
TFAP2C MCF7GSE21234 132316315 132316782 467 0
USF1 HepG2E 132325735 132326655 920 0
USF2 HepG2E 132265210 132265384 174 0
hScc1 CdLSGSE12603 132246767 132247322 555 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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