AutismKB 2.0

Annotation Detail for ANO5


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Basic Information Top
Gene Symbol:ANO5 ( GDD1,LGMD2L,TMEM16E )
Gene Full Name: anoctamin 5
Band: 11p14.3
Quick LinksEntrez ID:203859; OMIM: 608662; Uniprot ID:ANO5_HUMAN; ENSEMBL ID: ENSG00000171714; HGNC ID: 27337
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
335N-linked (GlcNAc...) (Potential).
366N-linked (GlcNAc...) (Potential).
380N-linked (GlcNAc...) (Potential).
768N-linked (GlcNAc...) (Potential).
778N-linked (GlcNAc...) (Potential).
791N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_213599
  • Location:chr11 22171297-22257974
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 22168627 22170130 1503 1919
NRSF pAbJurkat 22170829 22171374 545 196
Oct1 HelaGSE14283 22166255 22166291 36 5025
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 22274070 22274110 40 16116
Oct1 HelaGSE14283 22274064 22274104 40 16110
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 22223245 22223361 116 0
CTCF CD4SISSRdata 22223245 22223361 116 0
Nanog ESGSE20650 22212724 22213357 633 0
Nanog hESGSE18292 22212868 22213394 526 0
Oct1 HelaGSE14283 22174175 22174211 36 0
Stat6 IL-4-hr4GSE17850 22238201 22238718 517 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