AutismKB 2.0

Annotation Detail for NEFH


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Basic Information Top
Gene Symbol:NEFH ( NFH )
Gene Full Name: neurofilament, heavy polypeptide
Band: 22q12.2
Quick LinksEntrez ID:4744; OMIM: 162230; Uniprot ID:NFH_HUMAN; ENSEMBL ID: ENSG00000100285; HGNC ID: 7737
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
61Phosphoserine (By similarity).
501Phosphothreonine (By similarity).
503Phosphoserine (By similarity).
526Phosphoserine (By similarity).
532Phosphoserine (By similarity).
540Phosphoserine (By similarity).
546Phosphoserine (By similarity).
552Phosphoserine (By similarity).
560Phosphoserine (By similarity).
566Phosphoserine (By similarity).
574Phosphoserine (By similarity).
600Phosphoserine (By similarity).
606Phosphoserine (By similarity).
614Phosphoserine (By similarity).
620Phosphoserine (By similarity).
628Phosphoserine (By similarity).
634Phosphoserine (By similarity).
640Phosphoserine (By similarity).
648Phosphoserine (By similarity).
654Phosphoserine (By similarity).
660Phosphoserine (By similarity).
668Phosphoserine (By similarity).
674Phosphoserine (By similarity).
682Phosphoserine (By similarity).
688Phosphoserine (By similarity).
696Phosphoserine (By similarity).
702Phosphoserine (By similarity).
710Phosphoserine (By similarity).
724Phosphoserine (By similarity).
769Phosphoserine (By similarity).
774Phosphothreonine (By similarity).
801Phosphoserine (By similarity).
828Phosphoserine (By similarity).
Location(AA) Modifications Resource
61Phosphoserine (By similarity).Swiss-Prot 53.0
501Phosphothreonine (By similarity).Swiss-Prot 53.0
503Phosphoserine (By similarity).Swiss-Prot 53.0
526Phosphoserine (By similarity).Swiss-Prot 53.0
532Phosphoserine (By similarity).Swiss-Prot 53.0
540Phosphoserine (By similarity).Swiss-Prot 53.0
546Phosphoserine (By similarity).Swiss-Prot 53.0
552Phosphoserine (By similarity).Swiss-Prot 53.0
560Phosphoserine (By similarity).Swiss-Prot 53.0
566Phosphoserine (By similarity).Swiss-Prot 53.0
574Phosphoserine (By similarity).Swiss-Prot 53.0
600Phosphoserine (By similarity).Swiss-Prot 53.0
606Phosphoserine (By similarity).Swiss-Prot 53.0
614Phosphoserine (By similarity).Swiss-Prot 53.0
620Phosphoserine (By similarity).Swiss-Prot 53.0
628Phosphoserine (By similarity).Swiss-Prot 53.0
634Phosphoserine (By similarity).Swiss-Prot 53.0
640Phosphoserine (By similarity).Swiss-Prot 53.0
648Phosphoserine (By similarity).Swiss-Prot 53.0
654Phosphoserine (By similarity).Swiss-Prot 53.0
660Phosphoserine (By similarity).Swiss-Prot 53.0
668Phosphoserine (By similarity).Swiss-Prot 53.0
674Phosphoserine (By similarity).Swiss-Prot 53.0
682Phosphoserine (By similarity).Swiss-Prot 53.0
688Phosphoserine (By similarity).Swiss-Prot 53.0
696Phosphoserine (By similarity).Swiss-Prot 53.0
702Phosphoserine (By similarity).Swiss-Prot 53.0
710Phosphoserine (By similarity).Swiss-Prot 53.0
724Phosphoserine (By similarity).Swiss-Prot 53.0
769Phosphoserine (By similarity).Swiss-Prot 53.0
774Phosphothreonine (By similarity).Swiss-Prot 53.0
793PhosphoserinePhospho.ELM 6.0
801Phosphoserine (By similarity).Swiss-Prot 53.0
801PhosphoserinePhospho.ELM 6.0
828Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
45Phosphoserine(ATM)HMM predict
49Phosphoserine(IKK)HMM predict
54O-linkedHMM predict
56O-linkedHMM predict
56O-linkedHMM predict
57O-linkedHMM predict
61Phosphoserine(CDC2)HMM predict
61Phosphoserine(CDK)HMM predict
74O-linkedHMM predict
76O-linkedHMM predict
76Phosphoserine(CK1)HMM predict
76Phosphoserine(IKK)HMM predict
93Phosphothreonine(PKC)HMM predict
122N-linkedHMM predict
124Phosphoserine(CK1)HMM predict
301Phosphoserine(CK2)HMM predict
347Phosphoserine(PKG)HMM predict
503Phosphoserine(CDC2)HMM predict
511Phosphoserine(CDC2)HMM predict
511Phosphoserine(MAPK)HMM predict
518Phosphoserine(CDC2)HMM predict
518PhosphoserineHMM predict
526Phosphoserine(CDC2)HMM predict
532Phosphoserine(CDC2)HMM predict
532Phosphoserine(CDK)HMM predict
540Phosphoserine(CDC2)HMM predict
546Phosphoserine(CDC2)HMM predict
552Phosphoserine(CDC2)HMM predict
552PhosphoserineHMM predict
560Phosphoserine(CDC2)HMM predict
566Phosphoserine(CDC2)HMM predict
574Phosphoserine(CDC2)HMM predict
580Phosphoserine(CDC2)HMM predict
586Phosphoserine(CDC2)HMM predict
586PhosphoserineHMM predict
594Phosphoserine(CDC2)HMM predict
600Phosphoserine(CDC2)HMM predict
600Phosphoserine(CDK)HMM predict
606Phosphoserine(CDC2)HMM predict
606PhosphoserineHMM predict
614Phosphoserine(CDC2)HMM predict
620Phosphoserine(CDC2)HMM predict
620Phosphoserine(CDK)HMM predict
620PhosphoserineHMM predict
628Phosphoserine(CDC2)HMM predict
634Phosphoserine(CDC2)HMM predict
640Phosphoserine(CDC2)HMM predict
640PhosphoserineHMM predict
642Phosphothreonine(PKC)HMM predict
648Phosphoserine(CK2)HMM predict
648Phosphoserine(CDC2)HMM predict
654Phosphoserine(CDC2)HMM predict
654Phosphoserine(CDK)HMM predict
660Phosphoserine(CDC2)HMM predict
668Phosphoserine(CDC2)HMM predict
668Phosphoserine(CDK)HMM predict
674Phosphoserine(CDC2)HMM predict
674Phosphoserine(CDK)HMM predict
674PhosphoserineHMM predict
682Phosphoserine(CDC2)HMM predict
682Phosphoserine(CDK)HMM predict
688Phosphoserine(CDC2)HMM predict
688Phosphoserine(CDK)HMM predict
688PhosphoserineHMM predict
696Phosphoserine(CDC2)HMM predict
696Phosphoserine(CDK)HMM predict
702Phosphoserine(CDC2)HMM predict
702PhosphoserineHMM predict
710Phosphoserine(CDC2)HMM predict
710Phosphoserine(CDK)HMM predict
716Phosphoserine(CDC2)HMM predict
716PhosphoserineHMM predict
724Phosphoserine(CDC2)HMM predict
724Phosphoserine(CDK)HMM predict
730Phosphoserine(CDC2)HMM predict
730PhosphoserineHMM predict
738Phosphothreonine(CDC2)HMM predict
744Phosphoserine(CDC2)HMM predict
744PhosphoserineHMM predict
752Phosphoserine(CDC2)HMM predict
752Phosphoserine(CDK)HMM predict
758Phosphoserine(CDC2)HMM predict
758Phosphoserine(CDK)HMM predict
764Phosphothreonine(PKC)HMM predict
774Phosphothreonine(CDC2)HMM predict
774Phosphothreonine(MAPK)HMM predict
774PhosphothreonineHMM predict
793Phosphoserine(CDC2)HMM predict
793PhosphoserineHMM predict
801Phosphoserine(CDC2)HMM predict
801Phosphoserine(CDK)HMM predict
807Phosphoserine(CDC2)HMM predict
807PhosphoserineHMM predict
828Phosphoserine(CDC2)HMM predict
828Phosphoserine(CDK)HMM predict
856Phosphothreonine(MAPK)HMM predict
859Phosphothreonine(CDK)HMM predict
865Phosphoserine(PKG)HMM predict
894Phosphoserine(PKG)HMM predict
911Phosphothreonine(CDC2)HMM predict
911Phosphothreonine(MAPK)HMM predict
911Phosphothreonine(CDK)HMM predict
911PhosphothreonineHMM predict
948PhosphoserineHMM predict
963Phosphothreonine(PKC)HMM predict
963Phosphothreonine(CK2)HMM predict
1004Phosphoserine(CK1)HMM predict
1005Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021076
  • Location:chr22 28206218-28217273
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 28204307 28204950 643 1590
CTCF CD4GSE12889 28196480 28196724 244 9617
CTCF CD4SISSRdata 28196480 28196724 244 9617
CTCF G2GSE9613 28196266 28196653 387 9759
H3K27me3 colorectalcancer 28204648 28205947 1299 921
NRSF JurkatGSE13047 28203552 28206098 2546 1394
NRSF mAbJurkat 28201389 28205983 4594 2533
NRSF-mono JurkatQuESTdata 28202061 28202435 374 3971
NRSF-mono JurkatQuESTdata 28203503 28207314 3811 810
NRSF-poly JurkatQuESTdata 28202114 28202449 335 3937
NRSF-poly JurkatQuESTdata 28203052 28207278 4226 1054
hScc1 BcellGSE12603 28204538 28204856 318 1522
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28206683 28207348 665 0
ER Breast-CancerGSE22609 28207727 28208095 368 0
ER MCF7GSE19013 28207632 28208133 501 0
Myc K562GSE19551 28206374 28207413 1039 0
Nanog hESGSE18292 28207390 28208042 652 0
TFAP2C MCF7GSE21234 28207592 28208069 477 0
hScc1 BcellGSE12603 28206138 28207348 1210 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


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