AutismKB 2.0

Evidence Details 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
Sequences Top
>RUFY3|22902|nucleotide
ATGTCTGCTCTGACGCCTCCGACCGATATGCCAACCCCCACCACTGACAAGATCACACAGGCTGCCATGGAGACCATCTACCTTTGCAAATTCCGAGTGTCCATG
GATGGAGAATGGCTCTGCCTGCGAGAGCTGGATGACATCTCACTTACACCTGACCCAGAGCCTACCCATGAAGATCCTAATTATCTCATGGCTAATGAACGCATG
AACCTCATGAACATGGCCAAGCTGAGTATCAAGGGCTTGATTGAATCAGCTCTGAACCTGGGGAGGACTCTTGACTCTGACTATGCACCTCTCCAGCAATTCTTT
GTGGTGATGGAGCACTGTCTGAAACATGGCTTGAAAGCTAAAAAAACTTTTCTCGGACAAAATAAATCCTTCTGGGGGCCTCTAGAACTGGTAGAAAAGCTTGTT
CCAGAAGCCGCAGAGATAACAGCAAGTGTTAAAGATCTTCCAGGACTTAAGACACCAGTAGGTAGAGGAAGAGCCTGGCTTCGTTTGGCATTAATGCAAAAGAAA
CTTTCAGAATATATGAAAGCTTTGATCAATAAGAAAGAACTTCTCAGTGAATTCTACGAACCCAATGCCCTCATGATGGAAGAAGAAGGAGCCATAATTGCTGGT
CTGTTGGTGGGTCTGAATGTCATTGATGCCAATTTCTGTATGAAAGGAGAAGACTTGGACTCTCAGGTTGGAGTTATAGATTTTTCAATGTATCTCAAGGACGGG
AACAGCAGTAAAGGTACTGAAGGAGACGGTCAGATTACTGCAATTCTGGACCAGAAGAACTATGTAGAAGAACTGAACAGACATTTGAATGCTACTGTAAACAAC
CTTCAGGCAAAAGTAGATGCATTAGAAAAATCCAACACTAAACTGACAGAGGAGCTTGCAGTTGCAAACAACAGGATCATTACCTTACAAGAAGAAATGGAACGA
GTTAAAGAGGAAAGTTCCTACATACTGGAATCCAATCGGAAGGGTCCCAAGCAAGACAGAACTGCAGAAGGGCAAGCACTAAGTGAAGCAAGAAAGCATTTAAAA
GAAGAGACACAATTACGATTGGATGTTGAGAAAGAACTGGAGATGCAGATCAGCATGAGGCAGGAGATGGAATTGGCTATGAAGATGCTGGAGAAGGATGTCTGT
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>RUFY3|22902|protein
MSALTPPTDMPTPTTDKITQAAMETIYLCKFRVSMDGEWLCLRELDDISLTPDPEPTHEDPNYLMANERMNLMNMAKLSIKGLIESALNLGRTLDSDYAPLQQFF
VVMEHCLKHGLKAKKTFLGQNKSFWGPLELVEKLVPEAAEITASVKDLPGLKTPVGRGRAWLRLALMQKKLSEYMKALINKKELLSEFYEPNALMMEEEGAIIAG
LLVGLNVIDANFCMKGEDLDSQVGVIDFSMYLKDGNSSKGTEGDGQITAILDQKNYVEELNRHLNATVNNLQAKVDALEKSNTKLTEELAVANNRIITLQEEMER
VKEESSYILESNRKGPKQDRTAEGQALSEARKHLKEETQLRLDVEKELEMQISMRQEMELAMKMLEKDVCEKQDALVSLRQQLDDLRALKHELAFKLQSSDLGVK
QKSELNSRLEEKTNQMAATIKQLEQRLRQAERSRQSAELDNRLFKQDFGDKINSLQLEVEELTRQRNQLELELKQEKERRLQNDRSIPGRGSQKSESKMDGKHKM
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Evidence summary Top

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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