AutismKB 2.0

Annotation Detail for RUFY3


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Basic Information Top
Gene Symbol:RUFY3 ( KIAA0871,RIPX,SINGAR1 )
Gene Full Name: RUN and FYVE domain containing 3
Band: 4q13.3
Quick LinksEntrez ID:22902; OMIM: 611194; Uniprot ID:RUFY3_HUMAN; ENSEMBL ID: ENSG00000018189; HGNC ID: 30285
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
181N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
8O-linkedHMM predict
27Phosphotyrosine(Jak)HMM predict
51PhosphothreonineHMM predict
51O-linkedHMM predict
51Phosphothreonine(MAPK)HMM predict
57PhosphothreonineHMM predict
98Phosphotyrosine(Syk)HMM predict
126N-linkedHMM predict
158Phosphothreonine(CDK)HMM predict
179Phosphotyrosine(INSR)HMM predict
194Phosphotyrosine(Syk)HMM predict
231Phosphoserine(CK1)HMM predict
246N-linkedHMM predict
275N-linkedHMM predict
279N-linkedHMM predict
280N-linkedHMM predict
322Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014961
  • Location:chr4 71806561-71878135
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 71798432 71799030 598 7831
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 71834980 71835018 38 0
p130 QuiescentGSE19898 71806445 71806707 262 0
p130 QuiescentGSE19898 71863827 71864014 187 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
19797 mRNA RIPX chr4 71935905 72020555 110 mRNA RIPX chr4 71934716 71936015Sense/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