AutismKB 2.0

Annotation Detail for RUFY1


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Basic Information Top
Gene Symbol:RUFY1 ( FLJ22251,RABIP4,ZFYVE12 )
Gene Full Name: RUN and FYVE domain containing 1
Band: 5q35.3
Quick LinksEntrez ID:80230; OMIM: 610327; Uniprot ID:RUFY1_HUMAN; ENSEMBL ID: ENSG00000176783; HGNC ID: 19760
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
389Phosphotyrosine.
400Phosphotyrosine.
618Phosphoserine.
Location(AA) Modifications Resource
389Phosphotyrosine.Swiss-Prot 53.0
389Phosphotyrosine (BMX)Phospho.ELM 6.0
400Phosphotyrosine.Swiss-Prot 53.0
400Phosphotyrosine (PKC alpha)Phospho.ELM 6.0
Location(AA) Modification Resource
28Phosphoserine(IKK)HMM predict
42Phosphoserine(ATM)HMM predict
68Phosphothreonine(PKC)HMM predict
74Phosphothreonine(PKA)HMM predict
105Phosphoserine(PKB)HMM predict
105Phosphoserine(IKK)HMM predict
123Phosphoserine(PKG)HMM predict
133Phosphoserine(CK1)HMM predict
170N-linkedHMM predict
238Phosphotyrosine(Syk)HMM predict
275Phosphoserine(CK1)HMM predict
337Phosphoserine(CK1)HMM predict
475Phosphoserine(CK1)HMM predict
538Phosphoserine(ATM)HMM predict
546Phosphoserine(CK1)HMM predict
571Phosphothreonine(CK2)HMM predict
618Phosphoserine(ATM)HMM predict
656Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001040452
  • Location:chr5 178919337-178969624
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 178969590 178970201 611 271
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 178919325 178919724 399 0
CTCF G2GSE9613 178965670 178966068 398 0
Myc hESGSE17917 178919423 178919817 394 0
NRSF JurkatSISSRdata 178947849 178948051 202 0
NRSF-mono JurkatQuESTdata 178947697 178948064 367 0
NRSF-poly JurkatQuESTdata 178947730 178948159 429 0
PHF8 293TGSE20725 178918798 178919972 1174 0
Rb QuiescentGSE19898 178952262 178952392 130 0
p130 shRbQuiescentGSE19898 178919357 178919993 636 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
21976 mRNA RUFY1 chr5 178910192 178969618 32 mRNA chr5 178955510 178963348Sense/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