AutismKB 2.0

Evidence Details for RUFY3


View Evidences View Variants View Annotations
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
Sequences Top
>RUFY3|22902|nucleotide
ATGTCTGCTCTGACGCCTCCGACCGATATGCCAACCCCCACCACTGACAAGATCACACAGGCTGCCATGGAGACCATCTACCTTTGCAAATTCCGAGTGTCCATG
GATGGAGAATGGCTCTGCCTGCGAGAGCTGGATGACATCTCACTTACACCTGACCCAGAGCCTACCCATGAAGATCCTAATTATCTCATGGCTAATGAACGCATG
AACCTCATGAACATGGCCAAGCTGAGTATCAAGGGCTTGATTGAATCAGCTCTGAACCTGGGGAGGACTCTTGACTCTGACTATGCACCTCTCCAGCAATTCTTT
GTGGTGATGGAGCACTGTCTGAAACATGGCTTGAAAGCTAAAAAAACTTTTCTCGGACAAAATAAATCCTTCTGGGGGCCTCTAGAACTGGTAGAAAAGCTTGTT
CCAGAAGCCGCAGAGATAACAGCAAGTGTTAAAGATCTTCCAGGACTTAAGACACCAGTAGGTAGAGGAAGAGCCTGGCTTCGTTTGGCATTAATGCAAAAGAAA
CTTTCAGAATATATGAAAGCTTTGATCAATAAGAAAGAACTTCTCAGTGAATTCTACGAACCCAATGCCCTCATGATGGAAGAAGAAGGAGCCATAATTGCTGGT
CTGTTGGTGGGTCTGAATGTCATTGATGCCAATTTCTGTATGAAAGGAGAAGACTTGGACTCTCAGGTTGGAGTTATAGATTTTTCAATGTATCTCAAGGACGGG
AACAGCAGTAAAGGTACTGAAGGAGACGGTCAGATTACTGCAATTCTGGACCAGAAGAACTATGTAGAAGAACTGAACAGACATTTGAATGCTACTGTAAACAAC
CTTCAGGCAAAAGTAGATGCATTAGAAAAATCCAACACTAAACTGACAGAGGAGCTTGCAGTTGCAAACAACAGGATCATTACCTTACAAGAAGAAATGGAACGA
GTTAAAGAGGAAAGTTCCTACATACTGGAATCCAATCGGAAGGGTCCCAAGCAAGACAGAACTGCAGAAGGGCAAGCACTAAGTGAAGCAAGAAAGCATTTAAAA
GAAGAGACACAATTACGATTGGATGTTGAGAAAGAACTGGAGATGCAGATCAGCATGAGGCAGGAGATGGAATTGGCTATGAAGATGCTGGAGAAGGATGTCTGT
Show »

>RUFY3|22902|protein
MSALTPPTDMPTPTTDKITQAAMETIYLCKFRVSMDGEWLCLRELDDISLTPDPEPTHEDPNYLMANERMNLMNMAKLSIKGLIESALNLGRTLDSDYAPLQQFF
VVMEHCLKHGLKAKKTFLGQNKSFWGPLELVEKLVPEAAEITASVKDLPGLKTPVGRGRAWLRLALMQKKLSEYMKALINKKELLSEFYEPNALMMEEEGAIIAG
LLVGLNVIDANFCMKGEDLDSQVGVIDFSMYLKDGNSSKGTEGDGQITAILDQKNYVEELNRHLNATVNNLQAKVDALEKSNTKLTEELAVANNRIITLQEEMER
VKEESSYILESNRKGPKQDRTAEGQALSEARKHLKEETQLRLDVEKELEMQISMRQEMELAMKMLEKDVCEKQDALVSLRQQLDDLRALKHELAFKLQSSDLGVK
QKSELNSRLEEKTNQMAATIKQLEQRLRQAERSRQSAELDNRLFKQDFGDKINSLQLEVEELTRQRNQLELELKQEKERRLQNDRSIPGRGSQKSESKMDGKHKM
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Bowling KM, 2017 18 - 18 Genomic diagnosis for children with intellectual disability and/or developmental delay.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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