Evidence Details for PUF60
Basic Information Top
| Gene Symbol: | PUF60 ( FIR,FLJ31379,RoBPI,SIAHBP1 ) |
|---|---|
| Gene Full Name: | poly-U binding splicing factor 60KDa |
| Band: | 8q24.3 |
| Quick Links | Entrez 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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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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MENGQSTAAKLGLPPLTPEQQEALQKAKKYAMEQSIKSVLVKQTIAHQQQQLTNLQMAAVTMGFGDPLSPLQSMAAQRQRALAIMCRVYVGSIYYELGEDTIRQA
FAPFGPIKSIDMSWDSVTMKHKGFAFVEYEVPEAAQLALEQMNSVMLGGRNIKVGRPSNIGQAQPIIDQLAEEARAFNRIYVASVHQDLSDDDIKSVFEAFGKIK
SCTLARDPTTGKHKGYGFIEYEKAQSSQDAVSSMNLFDLGGQYLRVGKAVTPPMPLLTPATPGGLPPAAAVAAAAATAKITAQEAVAGAAVLGTLGTPGLVSPAL
TLAQPLGTLPQAVMAAQAPGVITGVTPARPPIPVTIPSVGVVNPILASPPTLGLLEPKKEKEEEELFPESERPEMLSEQEHMSISGSSARHMVMQKLLRKQESTV
MVLRNMVDPKDIDDDLEGEVTEECGKFGAVNRVIIYQEKQGEEEDAEIIVKIFVEFSIASETHKAIQALNGRWFAGRKVVAEVYDQERFDNSDLSA
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Evidence summary TopClick 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) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Baron, 2006_1 | America | human EBV-transformed lymphoblastoid cell lines | 3 (33.33%) | |  | - | autism | 3 (33.33%) |
1.32 | Up | 0.02 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
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 |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.