AutismKB 2.0

Annotation Detail for NEFM


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Basic Information Top
Gene Symbol:NEFM ( NEF3,NF-M,NFM )
Gene Full Name: neurofilament, medium polypeptide
Band: 8p21.2
Quick LinksEntrez ID:4741; OMIM: 162250; Uniprot ID:NFM_HUMAN; ENSEMBL ID: ENSG00000104722; HGNC ID: 7734
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine (By similarity).
47O-linked (GlcNAc) (By similarity).
320Phosphotyrosine (By similarity).
431O-linked (GlcNAc) (By similarity).
511Phosphoserine.
545Phosphoserine (By similarity).
553Phosphoserine (By similarity).
559Phosphoserine (By similarity).
615Phosphoserine.
620Phosphoserine.
628Phosphoserine.
633Phosphoserine.
654Phosphoserine.
659Phosphoserine.
667Phosphoserine.
672Phosphoserine.
680Phosphoserine.
685Phosphoserine.
736Phosphoserine.
783Phosphoserine.
788Phosphoserine.
837Phosphoserine (By similarity).
Location(AA) Modifications Resource
2N-acetylserine (By similarity).Swiss-Prot 53.0
47O-linked (GlcNAc) (By similarity).Swiss-Prot 53.0
431O-linked (GlcNAc) (By similarity).Swiss-Prot 53.0
511Phosphoserine (By similarity).Swiss-Prot 53.0
545Phosphoserine (By similarity).Swiss-Prot 53.0
553Phosphoserine (By similarity).Swiss-Prot 53.0
559Phosphoserine (By similarity).Swiss-Prot 53.0
614PhosphoserinePhospho.ELM 6.0
615Phosphoserine.Swiss-Prot 53.0
619PhosphoserinePhospho.ELM 6.0
620Phosphoserine.Swiss-Prot 53.0
627PhosphoserinePhospho.ELM 6.0
628Phosphoserine.Swiss-Prot 53.0
632PhosphoserinePhospho.ELM 6.0
633Phosphoserine.Swiss-Prot 53.0
666PhosphoserinePhospho.ELM 6.0
667Phosphoserine.Swiss-Prot 53.0
671PhosphoserinePhospho.ELM 6.0
672Phosphoserine.Swiss-Prot 53.0
679PhosphoserinePhospho.ELM 6.0
680Phosphoserine.Swiss-Prot 53.0
684PhosphoserinePhospho.ELM 6.0
685Phosphoserine.Swiss-Prot 53.0
736Phosphoserine.Swiss-Prot 53.0
783Phosphoserine (By similarity).Swiss-Prot 53.0
837Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
10N-linkedHMM predict
14Phosphotyrosine(EGFR)HMM predict
18Phosphothreonine(PKA)HMM predict
28Phosphoserine(PKG)HMM predict
28Phosphoserine(CK2)HMM predict
30Phosphoserine(IKK)HMM predict
30Phosphoserine(CDC2)HMM predict
37Phosphoserine(ATM)HMM predict
41Phosphoserine(IKK)HMM predict
44O-linkedHMM predict
44Phosphoserine(CDC2)HMM predict
46O-linkedHMM predict
46O-linkedHMM predict
47O-linkedHMM predict
50Phosphoserine(CDC2)HMM predict
51Phosphoserine(PKC)HMM predict
78Phosphoserine(ATM)HMM predict
78Phosphoserine(CK1)HMM predict
261Phosphotyrosine(Jak)HMM predict
261Phosphotyrosine(Syk)HMM predict
264PhosphothreonineHMM predict
275Phosphoserine(ATM)HMM predict
337Phosphothreonine(PKC)HMM predict
346Phosphoserine(PKG)HMM predict
346Phosphoserine(CK2)HMM predict
357Phosphoserine(CK1)HMM predict
467Phosphoserine(CK2)HMM predict
511Phosphoserine(CDC2)HMM predict
511PhosphoserineHMM predict
545Phosphoserine(CK2)HMM predict
558Phosphoserine(CK2)HMM predict
558Phosphoserine(CK1)HMM predict
559Phosphoserine(CK2)HMM predict
571Phosphothreonine(CK2)HMM predict
597Phosphothreonine(PKC)HMM predict
597Phosphothreonine(CK2)HMM predict
615PhosphoserineHMM predict
615Phosphoserine(CDK)HMM predict
615Phosphoserine(CDC2)HMM predict
620Phosphoserine(IKK)HMM predict
620Phosphoserine(CDC2)HMM predict
628Phosphoserine(CDC2)HMM predict
628PhosphoserineHMM predict
628Phosphoserine(CDK)HMM predict
633Phosphoserine(CDC2)HMM predict
633Phosphoserine(IKK)HMM predict
641PhosphoserineHMM predict
641Phosphoserine(CDK)HMM predict
641Phosphoserine(CDC2)HMM predict
646Phosphoserine(CDC2)HMM predict
646Phosphoserine(IKK)HMM predict
654Phosphoserine(CDC2)HMM predict
654PhosphoserineHMM predict
654Phosphoserine(CDK)HMM predict
659Phosphoserine(IKK)HMM predict
659Phosphoserine(CDC2)HMM predict
667Phosphoserine(CDC2)HMM predict
672Phosphoserine(CDC2)HMM predict
672Phosphoserine(IKK)HMM predict
680Phosphoserine(CDC2)HMM predict
680PhosphoserineHMM predict
680Phosphoserine(CDK)HMM predict
685Phosphoserine(IKK)HMM predict
685Phosphoserine(CDC2)HMM predict
736Phosphoserine(CDC2)HMM predict
736PhosphoserineHMM predict
788Phosphoserine(CK1)HMM predict
837Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005382
  • Location:chr8 24827211-24832509
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 24819401 24819712 311 7655
CTCF CD4SISSRdata 24819401 24819712 311 7655
CTCF G2GSE9613 24819409 24819714 305 7650
ER Fulvestrant-MCF7GSE14664 24825212 24825248 36 1982
H3K27me3 colorectalcancer 24826386 24826968 582 535
NRSF JurkatGSE13047 24825918 24826477 559 1014
NRSF JurkatSISSRdata 24826036 24826381 345 1003
NRSF mAbJurkat 24824443 24826849 2406 1566
NRSF-mono JurkatQuESTdata 24825988 24826476 488 980
NRSF-poly JurkatQuESTdata 24826015 24826494 479 957
Oct1 H2O2-HelaGSE14283 24814531 24814571 40 12661
Oct1 H2O2-HelaGSE14283 24826253 24826300 47 935
Oct1 HelaGSE14283 24814527 24814589 62 12654
Oct1 HelaGSE14283 24819889 24819944 55 7295
Oct1 HelaGSE14283 24826262 24826300 38 931
Stat6 IL-4-hr1GSE17850 24819007 24819561 554 7928
hScc1 G2GSE9613 24819371 24819819 448 7617
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24827026 24828319 1293 0
GATA3 MCF7GSE15244 24830492 24830699 207 0
NRSF pAbJurkat 24831059 24831309 250 0
Oct1 H2O2-HelaGSE14283 24829615 24829649 34 0
Oct1 HelaGSE14283 24829613 24829660 47 0
hScc1 BcellGSE12603 24827421 24828423 1002 0
hScc1 CdLSGSE12603 24828155 24828490 335 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
25190 mRNA NEF3 chr8 24827211 24832511 924 mRNA NEF3 chr8 24826438 24828135Sense/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


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