AutismKB 2.0

Annotation Detail for AFAP1L2


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Basic Information Top
Gene Symbol:AFAP1L2 ( FLJ14564,KIAA1914,XB130 )
Gene Full Name: actin filament associated protein 1-like 2
Band: 10q25.3
Quick LinksEntrez ID:84632; OMIM: 612420; Uniprot ID:AF1L2_HUMAN; ENSEMBL ID: ENSG00000169129; HGNC ID: 25901
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
56Phosphotyrosine (By similarity).
345Phosphothreonine (By similarity).
383Phosphotyrosine.
413Phosphotyrosine.
668Phosphotyrosine.
669Phosphothreonine.
Location(AA) Modifications Resource
345Phosphothreonine (By similarity).Swiss-Prot 53.0
413Phosphotyrosine.Swiss-Prot 53.0
413PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
25N-linkedHMM predict
27Phosphoserine(CK1)HMM predict
49Phosphoserine(CK2)HMM predict
50Phosphoserine(CK2)HMM predict
50Phosphoserine(CK1)HMM predict
54Phosphotyrosine(INSR)HMM predict
54SulfotyrosineHMM predict
54PhosphotyrosineHMM predict
56Phosphotyrosine(INSR)HMM predict
70Phosphoserine(ATM)HMM predict
87Phosphoserine(ATM)HMM predict
90Phosphoserine(IKK)HMM predict
90PhosphoserineHMM predict
123SulfotyrosineHMM predict
123Phosphotyrosine(Syk)HMM predict
123Phosphotyrosine(INSR)HMM predict
124Phosphotyrosine(EGFR)HMM predict
124Phosphotyrosine(SRC)HMM predict
124Phosphotyrosine(Syk)HMM predict
143Phosphoserine(CK1)HMM predict
147Phosphoserine(CK2)HMM predict
148SulfotyrosineHMM predict
283Phosphotyrosine(INSR)HMM predict
303Phosphoserine(CK2)HMM predict
310Phosphoserine(ATM)HMM predict
344Phosphoserine(PKG)HMM predict
353Phosphoserine(CK1)HMM predict
387N-linkedHMM predict
408Phosphoserine(CDK)HMM predict
448Phosphoserine(IKK)HMM predict
448Phosphoserine(CK1)HMM predict
457Phosphotyrosine(SRC)HMM predict
459SulfotyrosineHMM predict
489Phosphotyrosine(INSR)HMM predict
503SulfotyrosineHMM predict
503Phosphotyrosine(Syk)HMM predict
537Phosphotyrosine(Syk)HMM predict
537Phosphotyrosine(Jak)HMM predict
558O-linkedHMM predict
558O-linkedHMM predict
559Phosphoserine(CDC2)HMM predict
559Phosphoserine(CDK)HMM predict
559Phosphoserine(IKK)HMM predict
567N-linkedHMM predict
659N-linkedHMM predict
767Phosphoserine(CDC2)HMM predict
774Phosphothreonine(MAPK)HMM predict
774O-linkedHMM predict
777O-linkedHMM predict
782O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001001936
  • Location:chr10 116044574-116154504
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 116106451 116107184 733 0
CBP T30-glioblastomaGSE21026 116056114 116057047 933 0
CBP T30-glioblastomaGSE21026 116106372 116107133 761 0
CTCF CD4GSE12889 116053713 116054058 345 0
CTCF CD4SISSRdata 116053713 116054058 345 0
ER Fulvestrant-MCF7GSE14664 116133946 116133987 41 0
ER MCF7GSE19013 116096448 116097034 586 0
ER MCF7GSE19013 116099115 116100013 898 0
FOXA1 MCF7GSE15244 116099338 116100749 1411 0
Fos K562GSE19551 116102599 116102978 379 0
FoxA1 MCF7MACSdata 116099330 116099610 280 0
Nanog ESGSE20650 116087419 116087991 572 0
Nanog hESGSE18292 116087433 116087880 447 0
Nanog hESGSE18292 116109219 116109513 294 0
Oct1 H2O2-HelaGSE14283 116142744 116142776 32 0
Oct1 HelaGSE14283 116072764 116072836 72 0
Oct1 HelaGSE14283 116073175 116073235 60 0
Oct1 HelaGSE14283 116127001 116127036 35 0
Oct1 HelaGSE14283 116131265 116131294 29 0
Oct1 HelaGSE14283 116133936 116133983 47 0
Oct1 HelaGSE14283 116142738 116142775 37 0
Oct1 HelaGSE14283 116152118 116152165 47 0
Oct4 hESGSE21916 116087375 116088057 682 0
P300 T0-glioblastomaGSE21026 116106384 116107311 927 0
P300 T30-glioblastomaGSE21026 116056190 116056931 741 0
P300 T30-glioblastomaGSE21026 116106341 116107810 1469 0
P300 T30-glioblastomaGSE21026 116139023 116139697 674 0
RARA MCF7GSE15244 116050852 116051338 486 0
RARA MCF7GSE15244 116099338 116100820 1482 0
RARA MCF7GSE15244 116116929 116117745 816 0
RARA MCF7GSE15244 116128482 116128652 170 0
RARA MCF7GSE15244 116139091 116139562 471 0
RARG MCF7GSE15244 116050804 116051688 884 0
RARG MCF7GSE15244 116053684 116054255 571 0
RARG MCF7GSE15244 116070225 116070811 586 0
RARG MCF7GSE15244 116096052 116096956 904 0
RARG MCF7GSE15244 116099338 116100820 1482 0
RARG MCF7GSE15244 116111025 116111257 232 0
RARG MCF7GSE15244 116117068 116117745 677 0
RARG MCF7GSE15244 116139131 116139812 681 0
Rb GrowingGSE19898 116053807 116054039 232 0
Rb QuiescentGSE19898 116147769 116147906 137 0
Sox2 hESGSE18292 116087417 116087892 475 0
TFAP2C MCF7GSE21234 116051623 116052151 528 0
TFAP2C MCF7GSE21234 116056188 116056833 645 0
TFAP2C MCF7GSE21234 116086595 116087189 594 0
TFAP2C MCF7GSE21234 116095754 116096627 873 0
hScc1 BcellGSE12603 116053575 116054393 818 0
hScc1 BcellGSE12603 116112598 116113177 579 0
hScc1 BcellGSE12603 116153550 116154498 948 0
hScc1 CdLSGSE12603 116053355 116054393 1038 0
hScc1 CdLSGSE12603 116074303 116074528 225 0
hScc1 G2GSE9613 116053355 116054710 1355 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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