AutismKB 2.0

Annotation Detail for NEFL


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NEFL ( CMT1F,CMT2E,FLJ53642,NF-L,NF68,NFL )
Gene Full Name: neurofilament, light polypeptide
Band: 8p21.2
Quick LinksEntrez ID:4747; OMIM: 162280; Uniprot ID:NFL_HUMAN; ENSEMBL ID: ENSG00000104725; HGNC ID: 7739
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine (By similarity).
21O-linked (GlcNAc) (By similarity).
27O-linked (GlcNAc) (By similarity).
43Phosphotyrosine (By similarity).
56Phosphoserine (By similarity).
67Phosphoserine (By similarity).
424Phosphotyrosine (By similarity).
432Phosphotyrosine (By similarity).
472Phosphoserine.
Location(AA) Modifications Resource
2N-acetylserine (By similarity).Swiss-Prot 53.0
21O-linked (GlcNAc) (By similarity).Swiss-Prot 53.0
27O-linked (GlcNAc) (By similarity).Swiss-Prot 53.0
56Phosphoserine (By similarity).Swiss-Prot 53.0
67Phosphoserine (By similarity).Swiss-Prot 53.0
472Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphotyrosine(Syk)HMM predict
10SulfotyrosineHMM predict
13Phosphoserine(PKC)HMM predict
18Phosphotyrosine(EGFR)HMM predict
27O-linkedHMM predict
41O-linkedHMM predict
42O-linkedHMM predict
48Phosphoserine(IKK)HMM predict
52Phosphoserine(CK1)HMM predict
56Phosphoserine(PKG)HMM predict
58Phosphoserine(CK1)HMM predict
58Phosphoserine(IKK)HMM predict
59Phosphoserine(CDC2)HMM predict
74Phosphoserine(ATM)HMM predict
184Phosphoserine(CK2)HMM predict
184Phosphoserine(CK1)HMM predict
360Phosphothreonine(PKC)HMM predict
404O-linkedHMM predict
407O-linkedHMM predict
407Phosphoserine(PKA)HMM predict
409O-linkedHMM predict
413Phosphoserine(ATM)HMM predict
413Phosphoserine(IKK)HMM predict
430O-linkedHMM predict
502Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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