AutismKB 2.0

Evidence Details for PUF60


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Basic Information Top
Gene Symbol:PUF60 ( FIR,FLJ31379,RoBPI,SIAHBP1 )
Gene Full Name: poly-U binding splicing factor 60KDa
Band: 8q24.3
Quick LinksEntrez ID:22827; OMIM: 604819; Uniprot ID:PUF60_HUMAN; ENSEMBL ID: ENSG00000179950; HGNC ID: 17042
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PUF60|22827|nucleotide
ATGGAGAACGGGCAGAGCACAGCCGCCAAGCTGGGGCTGCCTCCCCTGACGCCCGAGCAGCAGGAGGCCCTTCAGAAGGCCAAGAAGTACGCCATGGAGCAGAGC
ATCAAGAGTGTGCTGGTGAAGCAGACCATCGCGCACCAGCAGCAGCAGCTCACCAACCTGCAGATGGCAGCAGTGACAATGGGCTTTGGAGATCCTCTCTCACCT
TTGCAATCGATGGCGGCTCAGCGGCAGCGGGCGCTGGCCATCATGTGCCGCGTCTACGTGGGCTCTATCTACTATGAGCTGGGGGAGGACACCATCCGCCAGGCC
TTTGCCCCCTTTGGCCCCATCAAGAGCATCGACATGTCCTGGGACTCCGTCACCATGAAGCACAAGGGCTTTGCCTTCGTGGAGTATGAGGTCCCCGAAGCTGCA
CAGCTGGCCTTGGAGCAGATGAACTCGGTGATGCTGGGGGGCAGGAACATCAAGGTGGGCAGACCCAGCAACATAGGGCAGGCCCAGCCCATCATAGACCAGTTG
GCTGAGGAGGCACGGGCCTTCAACCGCATCTACGTGGCCTCTGTGCACCAGGACCTCTCAGACGATGACATCAAGAGCGTGTTTGAGGCCTTTGGCAAGATCAAG
TCCTGCACACTGGCCCGGGACCCCACAACTGGCAAGCACAAGGGCTACGGCTTCATTGAGTACGAGAAGGCCCAGTCGTCCCAAGATGCTGTGTCTTCCATGAAC
CTCTTTGACCTGGGTGGCCAGTACTTGCGGGTGGGCAAGGCTGTCACACCGCCCATGCCCCTACTCACACCAGCCACGCCTGGAGGCCTCCCACCTGCCGCTGCT
GTGGCAGCTGCTGCAGCCACTGCCAAGATCACAGCTCAGGAAGCAGTGGCCGGAGCAGCGGTGCTGGGTACCCTGGGCACACCTGGACTGGTGTCCCCAGCACTG
ACCCTGGCCCAGCCCCTGGGCACTTTGCCCCAGGCTGTCATGGCTGCCCAGGCACCTGGAGTCATCACAGGTGTGACCCCAGCCCGTCCTCCTATCCCGGTCACC
ATCCCCTCGGTGGGAGTGGTGAACCCCATCCTGGCCAGCCCTCCAACGCTGGGTCTCCTGGAGCCCAAGAAGGAGAAGGAAGAAGAGGAGCTGTTTCCCGAGTCA
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>PUF60|22827|protein
MENGQSTAAKLGLPPLTPEQQEALQKAKKYAMEQSIKSVLVKQTIAHQQQQLTNLQMAAVTMGFGDPLSPLQSMAAQRQRALAIMCRVYVGSIYYELGEDTIRQA
FAPFGPIKSIDMSWDSVTMKHKGFAFVEYEVPEAAQLALEQMNSVMLGGRNIKVGRPSNIGQAQPIIDQLAEEARAFNRIYVASVHQDLSDDDIKSVFEAFGKIK
SCTLARDPTTGKHKGYGFIEYEKAQSSQDAVSSMNLFDLGGQYLRVGKAVTPPMPLLTPATPGGLPPAAAVAAAAATAKITAQEAVAGAAVLGTLGTPGLVSPAL
TLAQPLGTLPQAVMAAQAPGVITGVTPARPPIPVTIPSVGVVNPILASPPTLGLLEPKKEKEEEELFPESERPEMLSEQEHMSISGSSARHMVMQKLLRKQESTV
MVLRNMVDPKDIDDDLEGEVTEECGKFGAVNRVIIYQEKQGEEEDAEIIVKIFVEFSIASETHKAIQALNGRWFAGRKVVAEVYDQERFDNSDLSA
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (3)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top