AutismKB 2.0

Annotation Detail for AFAP1L1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AFAP1L1 ( FLJ36748,MGC149773 )
Gene Full Name: actin filament associated protein 1-like 1
Band: 5q32
Quick LinksEntrez ID:134265; OMIM: NA; Uniprot ID:AF1L1_HUMAN; ENSEMBL ID: ENSG00000157510; HGNC ID: 26714
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
343Phosphoserine (By similarity).
351Phosphoserine (By similarity).
353Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152406
  • Location:chr5 148631650-148701557
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 148628369 148628914 545 3009
CTCF G2GSE9613 148631265 148631734 469 151
hScc1 BcellGSE12603 148628549 148629054 505 2849
hScc1 CdLSGSE12603 148628549 148629125 576 2814
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 148702862 148703549 687 1648
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 148676946 148677242 296 0
CTCF CD4SISSRdata 148676946 148677242 296 0
CTCF G2GSE9613 148654580 148654905 325 0
CTCF G2GSE9613 148660578 148661058 480 0
CTCF G2GSE9613 148664185 148664574 389 0
CTCF G2GSE9613 148667232 148667536 304 0
CTCF G2GSE9613 148671757 148671946 189 0
CTCF G2GSE9613 148675633 148676199 566 0
CTCF G2GSE9613 148676942 148677813 871 0
ER Fulvestrant-MCF7GSE14664 148673282 148673320 38 0
KLF4 hESGSE17917 148670904 148671070 166 0
Oct1 H2O2-HelaGSE14283 148691874 148691901 27 0
Oct1 HelaGSE14283 148691873 148691901 28 0
USF1 HepG2E 148680003 148681068 1065 0
hScc1 BcellGSE12603 148669806 148670066 260 0
hScc1 BcellGSE12603 148676978 148677781 803 0
hScc1 CdLSGSE12603 148676942 148677516 574 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