AutismKB 2.0

Annotation Detail for NUFIP2


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Basic Information Top
Gene Symbol:NUFIP2 ( 182-FIP,82-FIP,FIP-82,FLJ10976,KIAA1321,MGC117262 )
Gene Full Name: nuclear fragile X mental retardation protein interacting protein 2
Band: 17q11.1
Quick LinksEntrez ID:57532; OMIM: 609356; Uniprot ID:NUFP2_HUMAN; ENSEMBL ID: ENSG00000108256; HGNC ID: 17634
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
87Phosphothreonine.
112Phosphoserine.
113Phosphoserine.
140N6-acetyllysine.
212Phosphoserine.
214Phosphoserine.
216Phosphoserine.
218Phosphotyrosine.
219Phosphothreonine.
220Phosphothreonine.
376Phosphoserine.
378Phosphothreonine.
572Phosphoserine.
608Phosphoserine.
629Phosphoserine.
631Phosphothreonine.
637Phosphoserine.
652Phosphoserine.
692Phosphoserine.
Location(AA) Modifications Resource
112Phosphoserine (By similarity).Swiss-Prot 53.0
212Phosphoserine.Swiss-Prot 53.0
212PhosphoserinePhospho.ELM 6.0
214Phosphoserine (By similarity).Swiss-Prot 53.0
220Phosphothreonine.Swiss-Prot 53.0
572Phosphoserine.Swiss-Prot 53.0
572PhosphoserinePhospho.ELM 6.0
652Phosphoserine.Swiss-Prot 53.0
652PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
36SulfotyrosineHMM predict
37SulfotyrosineHMM predict
40N-linkedHMM predict
44N-linkedHMM predict
57Phosphotyrosine(Abl)HMM predict
87Phosphothreonine(CDK)HMM predict
87Phosphothreonine(CDC2)HMM predict
94Phosphotyrosine(INSR)HMM predict
94Phosphotyrosine(EGFR)HMM predict
107Phosphoserine(CK1)HMM predict
107Phosphoserine(PKG)HMM predict
170N-linkedHMM predict
175N-linkedHMM predict
193N-linkedHMM predict
194N-linkedHMM predict
197Phosphotyrosine(INSR)HMM predict
212Phosphoserine(CK2)HMM predict
218Phosphotyrosine(Syk)HMM predict
218Phosphotyrosine(INSR)HMM predict
220Phosphothreonine(CDK)HMM predict
220Phosphothreonine(CDC2)HMM predict
230Phosphoserine(PKG)HMM predict
306Phosphoserine(CK1)HMM predict
306Phosphoserine(IKK)HMM predict
367N-linkedHMM predict
372N-linkedHMM predict
374O-linkedHMM predict
376O-linkedHMM predict
376Phosphoserine(CDC2)HMM predict
376Phosphoserine(IKK)HMM predict
376Phosphoserine(MAPK)HMM predict
378O-linkedHMM predict
379Phosphoserine(CK2)HMM predict
384Phosphoserine(CK1)HMM predict
385Phosphoserine(CK1)HMM predict
386Phosphoserine(CK1)HMM predict
387O-linkedHMM predict
390O-linkedHMM predict
392O-linkedHMM predict
399Phosphoserine(PKG)HMM predict
399Phosphoserine(IKK)HMM predict
399Phosphoserine(ATM)HMM predict
437O-linkedHMM predict
444Phosphothreonine(MAPK)HMM predict
444O-linkedHMM predict
447O-linkedHMM predict
452Phosphoserine(IKK)HMM predict
572Phosphoserine(MAPK)HMM predict
572Phosphoserine(CDC2)HMM predict
592Phosphoserine(PKG)HMM predict
608Phosphoserine(ATM)HMM predict
629Phosphoserine(CDC2)HMM predict
650N-linkedHMM predict
652Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020772
  • Location:chr17 24612771-24645202
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 24644925 24645808 883 164
Oct1 HelaGSE14283 24664176 24664246 70 19009
PHF8 Hs68minusFBSGSE20725 24644486 24645958 1472 20
TAF k562GSE8489 24645023 24646229 1206 424
TAFII hESGSE17917 24645171 24645691 520 229
hScc1 BcellGSE12603 24645023 24645467 444 43
p130 SenescentGSE19898 24644943 24645742 799 140
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24642331 24642612 281 0
H3K4me3 colorectalcancer 24642824 24643332 508 0
NFkBII GM15510GSE19485 24643738 24646199 2461 0
Pol2 GM12878GSE19551 24643992 24645770 1778 0
hScc1 BcellGSE12603 24642288 24642649 361 0
hScc1 BcellGSE12603 24643701 24644188 487 0
hScc1 CdLSGSE12603 24642224 24642676 452 0
hScc1 CdLSGSE12603 24643659 24644303 644 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1258 Unknown pSILAC miR-30 NUFIP2 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000108256 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, sarcoma"
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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