AutismKB 2.0

Evidence Details 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
Sequences Top
>RUFY1|80230|nucleotide
ATGATGGAGGAGCGTGCCAACCTGATGCACATGATGAAACTCAGCATCAAGGTGTTGCTCCAGTCGGCTCTGAGCCTGGGCCGCAGCCTGGATGCGGACCATGCC
CCCTTGCAGCAGTTCTTTGTAGTGATGGAGCACTGCCTCAAACATGGGCTGAAAGTTAAGAAGAGTTTTATTGGCCAAAATAAATCATTCTTTGGTCCTTTGGAG
CTGGTGGAGAAACTTTGTCCAGAAGCATCAGATATAGCGACTAGTGTCAGAAATCTTCCAGAATTAAAGACAGCTGTGGGAAGAGGCCGAGCGTGGCTTTATCTT
GCACTCATGCAAAAGAAACTGGCAGATTATCTGAAAGTGCTTATAGACAATAAACATCTCTTAAGCGAGTTCTATGAGCCTGAGGCTTTAATGATGGAGGAAGAA
GGGATGGTGATTGTTGGTCTGCTGGTGGGACTCAATGTTCTCGATGCCAATCTCTGCTTGAAAGGAGAAGACTTGGATTCTCAGGTTGGAGTAATAGATTTTTCC
CTCTACCTTAAGGATGTGCAGGATCTTGATGGTGGCAAGGAGCATGAAAGAATTACTGATGTCCTTGATCAAAAAAATTATGTGGAAGAACTTAACCGGCACTTG
AGCTGCACAGTTGGGGATCTTCAAACCAAGATAGATGGCTTGGAAAAGACTAACTCAAAGCTTCAAGAAGAGCTTTCAGCTGCAACAGACCGAATTTGCTCACTT
CAAGAAGAACAGCAGCAGTTAAGAGAACAAAATGAATTAATTCGAGAAAGAAGTGAAAAGAGTGTAGAGATAACAAAACAGGATACCAAAGTTGAGCTGGAGACT
TACAAGCAAACTCGGCAAGGTCTGGATGAAATGTACAGTGATGTGTGGAAGCAGCTAAAAGAGGAGAAGAAAGTCCGGTTGGAACTGGAAAAAGAACTGGAGTTA
CAAATTGGAATGAAAACCGAAATGGAAATTGCAATGAAGTTACTGGAAAAGGACACCCACGAGAAGCAGGACACACTAGTTGCCCTCCGCCAGCAGCTGGAAGAA
GTCAAAGCGATTAATTTACAGATGTTTCACAAAGCTCAGAATGCAGAGAGCAGTTTGCAGCAGAAGAATGAAGCCATCACATCCTTTGAAGGAAAAACCAACCAA
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>RUFY1|80230|protein
MMEERANLMHMMKLSIKVLLQSALSLGRSLDADHAPLQQFFVVMEHCLKHGLKVKKSFIGQNKSFFGPLELVEKLCPEASDIATSVRNLPELKTAVGRGRAWLYL
ALMQKKLADYLKVLIDNKHLLSEFYEPEALMMEEEGMVIVGLLVGLNVLDANLCLKGEDLDSQVGVIDFSLYLKDVQDLDGGKEHERITDVLDQKNYVEELNRHL
SCTVGDLQTKIDGLEKTNSKLQEELSAATDRICSLQEEQQQLREQNELIRERSEKSVEITKQDTKVELETYKQTRQGLDEMYSDVWKQLKEEKKVRLELEKELEL
QIGMKTEMEIAMKLLEKDTHEKQDTLVALRQQLEEVKAINLQMFHKAQNAESSLQQKNEAITSFEGKTNQVMSSMKQMEERLQHSERARQGAEERSHKLQQELGG
RIGALQLQLSQLHEQCSSLEKELKSEKEQRQALQRELQHEKDTSSLLRMELQQVEGLKKELRELQDEKAELQKICEEQEQALQEMGLHLSQSKLKMEDIKEVNQA
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top