AutismKB 2.0

Annotation Detail for NF1


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Basic Information Top
Gene Symbol:NF1 ( DKFZp686J1293,FLJ21220,NFNS,VRNF,WSS )
Gene Full Name: neurofibromin 1
Band: 17q11.2
Quick LinksEntrez ID:4763; OMIM: 613113; Uniprot ID:NF1_HUMAN; ENSEMBL ID: ENSG00000196712; HGNC ID: 7765
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine (By similarity).
864Phosphoserine.
876Phosphoserine.
1581N6-acetyllysine.
2188Phosphoserine.
2476Phosphotyrosine.
2496Phosphoserine.
2514Phosphothreonine (By similarity).
2515Phosphoserine.
2521Phosphoserine.
2523Phosphoserine.
2543Phosphoserine.
2577Phosphotyrosine.
2597Phosphoserine.
2817Phosphoserine (By similarity).
2829Phosphoserine.
Location(AA) Modifications Resource
864Phosphoserine.Swiss-Prot 53.0
864PhosphoserinePhospho.ELM 6.0
2188Phosphoserine.Swiss-Prot 53.0
2188PhosphoserinePhospho.ELM 6.0
2514Phosphothreonine (By similarity).Swiss-Prot 53.0
2515Phosphoserine.Swiss-Prot 53.0
2515PhosphoserinePhospho.ELM 6.0
2829PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
45N-linkedHMM predict
82Phosphoserine(ATM)HMM predict
182Phosphotyrosine(INSR)HMM predict
333Phosphotyrosine(INSR)HMM predict
359N-linkedHMM predict
365O-linkedHMM predict
368Phosphoserine(ATM)HMM predict
467Phosphothreonine(PKC)HMM predict
639N-linkedHMM predict
641Phosphoserine(ATM)HMM predict
653Phosphothreonine(MAPK)HMM predict
743Phosphoserine(IKK)HMM predict
818Phosphoserine(PKG)HMM predict
833Phosphoserine(CK1)HMM predict
839N-linkedHMM predict
858Phosphoserine(IKK)HMM predict
864O-linkedHMM predict
876Phosphoserine(PKA)HMM predict
889Phosphothreonine(CDC2)HMM predict
889Phosphothreonine(CDK)HMM predict
889Phosphothreonine(MAPK)HMM predict
974N-linkedHMM predict
979Phosphoserine(CK1)HMM predict
1127Phosphothreonine(PKC)HMM predict
1331Phosphoserine(CK1)HMM predict
1493N-linkedHMM predict
1563N-linkedHMM predict
1630Phosphothreonine(PKC)HMM predict
1766O-linkedHMM predict
1834Phosphoserine(ATM)HMM predict
1838Phosphoserine(IKK)HMM predict
1903N-linkedHMM predict
1904N-linkedHMM predict
1972Phosphothreonine(PKA)HMM predict
1989Phosphotyrosine(EGFR)HMM predict
2064Phosphoserine(CDC2)HMM predict
2241N-linkedHMM predict
2243Phosphoserine(CDK)HMM predict
2254S-palmitoylHMM predict
2285Phosphotyrosine(Abl)HMM predict
2444Phosphothreonine(PKC)HMM predict
2487Phosphothreonine(PKC)HMM predict
2487Phosphothreonine(CDK)HMM predict
2496Phosphoserine(CDC2)HMM predict
2500O-linkedHMM predict
2503Phosphotyrosine(Syk)HMM predict
2503Phosphotyrosine(Jak)HMM predict
2530Phosphoserine(IKK)HMM predict
2565Phosphothreonine(CDC2)HMM predict
2577Phosphotyrosine(Syk)HMM predict
2577SulfotyrosineHMM predict
2586Phosphoserine(CK1)HMM predict
2587Phosphoserine(ATM)HMM predict
2597Phosphoserine(IKK)HMM predict
2597Phosphoserine(CAMK2)HMM predict
2597Phosphoserine(PKG)HMM predict
2597Phosphoserine(PKA)HMM predict
2751Phosphoserine(CK1)HMM predict
2751Phosphoserine(CK2)HMM predict
2760Phosphoserine(CDC2)HMM predict
2760O-linkedHMM predict
2788Phosphoserine(ATM)HMM predict
2788Phosphoserine(IKK)HMM predict
2819O-linkedHMM predict
2819Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000267
  • Location:chr17 26446120-26728819
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 26436700 26437236 536 9153
PHF8 293TGSE20725 26445561 26446663 1102 9
hScc1 CdLSGSE12603 26445648 26446561 913 16
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 26732992 26733030 38 4192
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 26567308 26567611 303 0
CTCF CD4GSE12889 26617184 26617446 262 0
CTCF CD4GSE12889 26724392 26724708 316 0
CTCF CD4SISSRdata 26567308 26567611 303 0
CTCF CD4SISSRdata 26617184 26617446 262 0
CTCF CD4SISSRdata 26724392 26724708 316 0
ER E2-MCF7GSE14664 26459081 26459114 33 0
ER E2-MCF7GSE14664 26673807 26673866 59 0
ER E2-MCF7GSE14664 26677041 26677077 36 0
ER Fulvestrant-MCF7GSE14664 26464483 26464559 76 0
ER Fulvestrant-MCF7GSE14664 26677022 26677086 64 0
ER Fulvestrant-MCF7GSE14664 26691382 26691423 41 0
ER Fulvestrant-MCF7GSE14664 26699174 26699268 94 0
Fos K562GSE19551 26665268 26665845 577 0
H3ac HepG2E 26446783 26447711 928 0
Nanog hESGSE18292 26630753 26630999 246 0
Oct1 H2O2-HelaGSE14283 26459081 26459112 31 0
Oct1 HelaGSE14283 26459079 26459114 35 0
Oct1 HelaGSE14283 26556445 26556476 31 0
Oct1 HelaGSE14283 26591563 26591638 75 0
Oct1 HelaGSE14283 26591805 26591837 32 0
Oct1 HelaGSE14283 26652732 26652778 46 0
Oct1 HelaGSE14283 26652863 26652893 30 0
Oct1 HelaGSE14283 26692631 26692678 47 0
Oct1 HelaGSE14283 26720916 26720952 36 0
P300 T30-glioblastomaGSE21026 26620287 26621319 1032 0
P300 T30-glioblastomaGSE21026 26678450 26679706 1256 0
Stat6 IL-4-hr1GSE17850 26446317 26447331 1014 0
TFAP2C MCF7GSE21234 26481726 26482279 553 0
hScc1 BcellGSE12603 26567294 26567619 325 0
hScc1 CdLSGSE12603 26567330 26567980 650 0
hScc1 CdLSGSE12603 26724171 26724722 551 0
p63 keratinocytesGSE17611 26625056 26626089 1033 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
10905 mRNA NF1 chr17 26446242 26725590 143 EST chr17 26441947 26446564Sense/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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