AutismKB 2.0

Annotation Detail for NPHP1


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Basic Information Top
Gene Symbol:NPHP1 ( FLJ97602,JBTS4,NPH1,SLSN1 )
Gene Full Name: nephronophthisis 1 (juvenile)
Band: 2q13
Quick LinksEntrez ID:4867; OMIM: 607100; Uniprot ID:NPHP1_HUMAN; ENSEMBL ID: ENSG00000144061; HGNC ID: 7905
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
121Phosphoserine; by CK2 (Probable).
123Phosphoserine; by CK2 (Probable).
126Phosphoserine; by CK2 (Probable).
Location(AA) Modifications Resource
Location(AA) Modification Resource
29Phosphoserine(CK1)HMM predict
31Phosphoserine(ATM)HMM predict
107N-linkedHMM predict
121Phosphoserine(CK1)HMM predict
123Phosphoserine(CK2)HMM predict
126Phosphoserine(CK1)HMM predict
129Phosphoserine(CK1)HMM predict
148Phosphoserine(CK1)HMM predict
153Phosphothreonine(PKC)HMM predict
211PhosphoserineHMM predict
211Phosphoserine(CK2)HMM predict
219PhosphoserineHMM predict
219Phosphoserine(CK2)HMM predict
224Phosphoserine(CK1)HMM predict
224PhosphoserineHMM predict
287N-linkedHMM predict
358Phosphoserine(ATM)HMM predict
439Phosphoserine(CDC2)HMM predict
460Phosphoserine(PKG)HMM predict
462Phosphoserine(CDK)HMM predict
478N-linkedHMM predict
636Phosphothreonine(PKC)HMM predict
706Phosphoserine(CDK)HMM predict
706Phosphoserine(MAPK)HMM predict
721Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000272
  • Location:chr2 110237194-110319882
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 110244552 110244721 169 0
CTCF G2GSE9613 110272046 110272705 659 0
VDR GM10855-stimGSE22484 110238069 110239400 1331 0
VDR GM10861-stimGSE22484 110238261 110239404 1143 0
hScc1 BcellGSE12603 110272228 110272560 332 0
hScc1 CdLSGSE12603 110271940 110272477 537 0
hScc1 G2GSE9613 110244552 110244721 169 0
hScc1 G2GSE9613 110271979 110272668 689 0
p63 keratinocytesGSE17611 110263949 110264830 881 0
p63 keratinocytesGSE17611 110288243 110289104 861 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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