AutismKB 2.0

Annotation Detail for NRF1


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Basic Information Top
Gene Symbol:NRF1 ( ALPHA-PAL )
Gene Full Name: nuclear respiratory factor 1
Band: 7q32.2
Quick LinksEntrez ID:4899; OMIM: 600879; Uniprot ID:NRF1_HUMAN; ENSEMBL ID: ENSG00000106459; HGNC ID: 7996
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
39Phosphoserine; by CK2.
44Phosphoserine; by CK2.
46Phosphoserine; by CK2.
47Phosphoserine; by CK2.
52Phosphoserine; by CK2.
116Nuclear localization signal.
Location(AA) Modifications Resource
39Phosphoserine (by CK2).Swiss-Prot 53.0
44Phosphoserine (by CK2).Swiss-Prot 53.0
46Phosphoserine (by CK2).Swiss-Prot 53.0
47Phosphoserine (by CK2).Swiss-Prot 53.0
52Phosphoserine (by CK2).Swiss-Prot 53.0
Location(AA) Modification Resource
39Phosphoserine(CK2)HMM predict
44Phosphoserine(IKK)HMM predict
46Phosphoserine(CK1)HMM predict
47PhosphoserineHMM predict
47Phosphoserine(ATM)HMM predict
47Phosphoserine(CDC2)HMM predict
53Phosphotyrosine(Syk)HMM predict
60N-linkedHMM predict
87Phosphothreonine(PKC)HMM predict
136Phosphoserine(CDC2)HMM predict
161Phosphoserine(PKA)HMM predict
249Phosphothreonine(CK2)HMM predict
292O-linkedHMM predict
330O-linkedHMM predict
342O-linkedHMM predict
347N-linkedHMM predict
417Phosphothreonine(PKC)HMM predict
487O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001040110
  • Location:chr7 129057154-129184155
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 129186271 129186445 174 2203
CTCF G2GSE9613 129196338 129197887 1549 12957
CTCF G2GSE9613 129198394 129199042 648 14563
CTCF G2GSE9613 129201785 129202953 1168 18214
Nanog hESGSE18292 129203524 129203842 318 19528
Oct1 H2O2-HelaGSE14283 129199111 129199138 27 14969
Oct4 hESGSE21916 129203103 129203846 743 19319
Sox2 hESGSE18292 129203405 129203865 460 19480
TFAP2C MCF7GSE21234 129191508 129192100 592 7649
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 129062673 129062920 247 0
CTCF CD4GSE12889 129091613 129091820 207 0
CTCF CD4SISSRdata 129062673 129062920 247 0
CTCF CD4SISSRdata 129091613 129091820 207 0
CTCF G2GSE9613 129063081 129063256 175 0
CTCF G2GSE9613 129091541 129092096 555 0
Gata2 K562GSE18868 129147285 129147950 665 0
Myc K562GSE19551 129062588 129062969 381 0
Myc K562GSE19551 129147336 129147936 600 0
Nanog hESGSE18292 129057415 129057832 417 0
Oct1 H2O2-HelaGSE14283 129174816 129174846 30 0
Oct1 HelaGSE14283 129061290 129061333 43 0
Oct1 HelaGSE14283 129096563 129096592 29 0
Oct1 HelaGSE14283 129174769 129174844 75 0
P300 T30-glioblastomaGSE21026 129091993 129092714 721 0
TAF HelaGSE8489 129171242 129171490 248 0
hScc1 CdLSGSE12603 129071514 129072688 1174 0
hScc1 CdLSGSE12603 129091287 129091914 627 0
hScc1 G2GSE9613 129091465 129092096 631 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