AutismKB 2.0

Annotation Detail for NEDD4L


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Basic Information Top
Gene Symbol:NEDD4L ( FLJ33870,KIAA0439,NEDD4-2,RSP5,hNedd4-2 )
Gene Full Name: neural precursor cell expressed, developmentally down-regulated 4-like
Band: 18q21.31
Quick LinksEntrez ID:23327; OMIM: 606384; Uniprot ID:NED4L_HUMAN; ENSEMBL ID: ENSG00000049759; HGNC ID: 7728
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
302Phosphothreonine (By similarity).
303Phosphoserine.
318Phosphothreonine.
342Phosphoserine.
367Phosphothreonine; by SGK (Probable).
446Phosphoserine.
448Phosphoserine; by PKA and SGK.
449Phosphoserine.
464Phosphoserine.
479Phosphoserine.
483Phosphoserine.
487Phosphoserine.
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015277
  • Location:chr18 53862777-54216368
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 53861723 53862062 339 885
CTCF CD4SISSRdata 53861723 53862062 339 885
CTCF G2GSE9613 53861687 53861982 295 943
CTCF G2GSE9613 53862223 53862757 534 288
H3K4me3 colorectalcancer 53861195 53861726 531 1317
H3ac HepG2E 53861082 53861838 756 1318
Rb SenescentGSE19898 53861634 53861991 357 965
hScc1 BcellGSE12603 53861580 53862676 1096 650
hScc1 CdLSGSE12603 53861471 53862757 1286 664
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