AutismKB 2.0

Annotation Detail for AFAP1


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Basic Information Top
Gene Symbol:AFAP1 ( AFAP,AFAP-110,FLJ56849 )
Gene Full Name: actin filament associated protein 1
Band: 4p16.1
Quick LinksEntrez ID:60312; OMIM: 608252; Uniprot ID:AFAP1_HUMAN; ENSEMBL ID: ENSG00000196526; HGNC ID: 24017
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
74SH3-binding (By similarity).
97SH2-binding 1 (By similarity).
277Phosphoserine.
278Phosphoserine.
282Phosphoserine.
283Phosphoserine.
336Phosphoserine.
337Phosphothreonine.
341Phosphothreonine.
342Phosphoserine.
343Phosphoserine.
456SH2-binding 2 (By similarity).
546Phosphothreonine (By similarity).
663Phosphothreonine.
664Phosphoserine.
665Phosphoserine.
668Phosphoserine.
679Phosphoserine.
686Phosphothreonine.
687Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198595
  • Location:chr4 7811341-7992485
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7946457 7947754 1297 0
CTCF G2GSE9613 7948824 7949431 607 0
CTCF G2GSE9613 7949880 7950094 214 0
CTCF G2GSE9613 7958377 7958527 150 0
CTCF G2GSE9613 7968560 7968873 313 0
CTCF G2GSE9613 7969114 7969549 435 0
CTCF G2GSE9613 7970336 7971978 1642 0
CTCF G2GSE9613 7981599 7982547 948 0
FOXA1 MCF7GSE15244 7976574 7977163 589 0
FOXA1 eGFPGSE10845 7976574 7977163 589 0
H3K4me3 colorectalcancer 7990415 7991017 602 0
H3ac HepG2E 7937416 7937630 214 0
H3ac HepG2E 7970677 7971719 1042 0
H3ac HepG2E 7990447 7991214 767 0
Oct1 HelaGSE14283 7951519 7951557 38 0
P300 T30-glioblastomaGSE21026 7924710 7925662 952 0
P300 T30-glioblastomaGSE21026 7932372 7933260 888 0
RARA MCF7GSE15244 7970197 7971838 1641 0
RARA MCF7GSE15244 7976574 7977196 622 0
Rb GrowingGSE19898 7991080 7991266 186 0
Rb SenescentGSE19898 7991115 7991485 370 0
Rb shRbSenescenceGSE19898 7991108 7991354 246 0
TFAP2C MCF7GSE21234 7970247 7970813 566 0
TFAP2C MCF7GSE21234 7982018 7982727 709 0
hScc1 BcellGSE12603 7946457 7946679 222 0
hScc1 BcellGSE12603 7970713 7971719 1006 0
hScc1 G2GSE9613 7947030 7947754 724 0
hScc1 G2GSE9613 7981635 7982511 876 0
p130 QuiescentGSE19898 7990531 7990856 325 0
p130 SenescentGSE19898 7945200 7945685 485 0
p130 shRbSenescentGSE19898 7990977 7991398 421 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
19391 mRNA LOC389199 chr4 8058798 8060093 204 mRNA AFAP chr4 7878512 8059657Sense/Antisense (SA) pairs

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