AutismKB 2.0

Evidence Details for RUVBL1


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Basic Information Top
Gene Symbol:RUVBL1 ( ECP54,INO80H,NMP238,PONTIN,Pontin52,RVB1,TIH1,TIP49,TIP49A )
Gene Full Name: RuvB-like 1 (E. coli)
Band: 3q21.3
Quick LinksEntrez ID:8607; OMIM: 603449; Uniprot ID:RUVB1_HUMAN; ENSEMBL ID: ENSG00000175792; HGNC ID: 10474
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RUVBL1|8607|nucleotide
ATGAAGATTGAGGAGGTGAAGAGCACTACGAAGACGCAGCGCATCGCCTCCCACAGCCACGTGAAAGGGCTGGGGCTGGACGAGAGCGGCTTGGCCAAGCAGGCG
GCCTCAGGGCTTGTGGGCCAGGAGAACGCGCGAGAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGA
CCTCCTGGAACTGGCAAGACAGCTCTGGCTCTGGCTATTGCTCAGGAGCTGGGTAGTAAGGTCCCCTTCTGCCCAATGGTGGGGAGTGAAGTTTACTCAACTGAG
ATCAAGAAGACAGAGGTGCTGATGGAGAACTTCCGCAGGGCCATTGGGCTGCGAATAAAGGAGACCAAGGAAGTTTATGAAGGTGAAGTCACAGAGCTAACTCCG
TGTGAGACAGAGAATCCCATGGGAGGATATGGCAAAACCATTAGCCATGTGATCATAGGACTCAAAACAGCCAAAGGAACCAAACAGTTGAAACTGGACCCCAGC
ATTTTTGAAAGTTTGCAGAAAGAGCGAGTAGAAGCTGGAGATGTGATTTACATTGAAGCCAACAGTGGGGCCGTGAAGAGGCAGGGCAGGTGTGATACCTATGCC
ACAGAATTCGACCTTGAAGCTGAAGAGTATGTCCCCTTGCCAAAAGGGGATGTGCACAAAAAGAAAGAAATCATCCAAGATGTGACCTTGCATGACTTGGATGTG
GCTAATGCGCGGCCCCAGGGGGGACAAGATATCCTGTCCATGATGGGCCAGCTAATGAAGCCAAAGAAGACAGAAATCACAGACAAACTTCGAGGGGAGATTAAT
AAGGTGGTGAACAAGTACATCGACCAGGGCATTGCTGAGCTGGTCCCGGGTGTGCTGTTTGTTGATGAGGTCCACATGCTGGACATTGAGTGCTTCACCTACCTG
CACCGCGCCCTGGAGTCTTCTATCGCTCCCATCGTCATCTTTGCATCCAACCGAGGCAACTGTGTCATCAGAGGCACTGAGGACATCACATCCCCTCACGGCATC
CCTCTTGACCTTCTGGACCGAGTGATGATAATCCGGACCATGCTGTATACTCCACAGGAAATGAAACAGATCATTAAAATCCGTGCCCAGACGGAAGGAATCAAC
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>RUVBL1|8607|protein
MKIEEVKSTTKTQRIASHSHVKGLGLDESGLAKQAASGLVGQENAREACGVIVELIKSKKMAGRAVLLAGPPGTGKTALALAIAQELGSKVPFCPMVGSEVYSTE
IKKTEVLMENFRRAIGLRIKETKEVYEGEVTELTPCETENPMGGYGKTISHVIIGLKTAKGTKQLKLDPSIFESLQKERVEAGDVIYIEANSGAVKRQGRCDTYA
TEFDLEAEEYVPLPKGDVHKKKEIIQDVTLHDLDVANARPQGGQDILSMMGQLMKPKKTEITDKLRGEINKVVNKYIDQGIAELVPGVLFVDEVHMLDIECFTYL
HRALESSIAPIVIFASNRGNCVIRGTEDITSPHGIPLDLLDRVMIIRTMLYTPQEMKQIIKIRAQTEGINISEEALNHLGEIGTKTTLRYSVQLLTPANLLAKIN
GKDSIEKEHVEEISELFYDAKSSAKILADQQDKYMK
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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 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top