Evidence Details for PPL
Basic Information Top
Gene Symbol: | PPL ( KIAA0568,MGC134872 ) |
---|---|
Gene Full Name: | periplakin |
Band: | 16p13.3 |
Quick Links | Entrez ID:5493; OMIM: 602871; Uniprot ID:PEPL_HUMAN; ENSEMBL ID: ENSG00000118898; HGNC ID: 9273 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PPL|5493|nucleotide
ATGAACTCGCTCTTCAGGAAGAGAAACAAAGGCAAATACAGCCCCACTGTGCAGACCCGGAGCATCTCTAACAAGGAGCTCTCGGAGCTGATCGAGCAGCTGCAG
AAGAATGCCGACCAGGTGGAGAAGAACATCGTGGACACAGAGGCCAAGATGCAGAGTGACCTGGCTCGGCTGCAGGAGGGTCGGCAGCCTGAGCACCGGGACGTG
ACCCTGCAGAAGGTGTTGGACTCTGAGAAGCTGCTCTATGTGCTAGAGGCGGATGCGGCCATTGCCAAGCACATGAAGCACCCACAGGGGGACATGATCGCCGAG
GATATCCGCCAGCTGAAGGAGCGTGTGACCAACCTGCGCGGGAAACACAAGCAGATCTACAGGCTGGCGGTGAAGGAAGTGGATCCACAGGTCAACTGGGCGGCA
CTGGTGGAGGAGAAGCTGGACAAGCTGAACAACCAGAGCTTTGGGACTGACCTGCCGCTGGTGGACCACCAAGTGGAGGAGCATAACATCTTCCACAATGAGGTC
AAGGCCATCGGGCCCCACCTGGCCAAGGACGGGGACAAGGAGCAGAACAGCGAACTCCGGGCCAAGTACCAGAAACTGCTGGCAGCATCACAGGCCCGGCAGCAG
CACCTGAGTTCGCTGCAGGACTACATGCAGCGCTGCACCAATGAGCTGTACTGGCTGGACCAGCAGGCCAAGGGCCGCATGCAGTACGACTGGAGTGACCGCAAC
CTCGACTACCCCAGCCGCCGGCGCCAGTATGAGAATTTCATCAACCGGAACCTGGAGGCCAAAGAGGAGAGAATCAACAAACTGCACAGCGAGGGCGACCAGCTG
CTGGCGGCCGAGCACCCCGGGAGGAACTCCATTGAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCAC
CTCAAGTACATGGAGGACTACCACCAGTTTCACGAAGACGTGAAGGACGCTCAGGAGCTGCTGCGCAAGGTGGACTCGGACCTGAACCAGAAGTATGGCCCTGAC
TTCAAGGACCGGTACCAGATTGAGCTGCTGCTGCGGGAGCTGGATGACCAGGAGAAGGTGCTGGACAAGTATGAGGACGTGGTGCAGGGGCTGCAGAAGCGAGGC
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ATGAACTCGCTCTTCAGGAAGAGAAACAAAGGCAAATACAGCCCCACTGTGCAGACCCGGAGCATCTCTAACAAGGAGCTCTCGGAGCTGATCGAGCAGCTGCAG
AAGAATGCCGACCAGGTGGAGAAGAACATCGTGGACACAGAGGCCAAGATGCAGAGTGACCTGGCTCGGCTGCAGGAGGGTCGGCAGCCTGAGCACCGGGACGTG
ACCCTGCAGAAGGTGTTGGACTCTGAGAAGCTGCTCTATGTGCTAGAGGCGGATGCGGCCATTGCCAAGCACATGAAGCACCCACAGGGGGACATGATCGCCGAG
GATATCCGCCAGCTGAAGGAGCGTGTGACCAACCTGCGCGGGAAACACAAGCAGATCTACAGGCTGGCGGTGAAGGAAGTGGATCCACAGGTCAACTGGGCGGCA
CTGGTGGAGGAGAAGCTGGACAAGCTGAACAACCAGAGCTTTGGGACTGACCTGCCGCTGGTGGACCACCAAGTGGAGGAGCATAACATCTTCCACAATGAGGTC
AAGGCCATCGGGCCCCACCTGGCCAAGGACGGGGACAAGGAGCAGAACAGCGAACTCCGGGCCAAGTACCAGAAACTGCTGGCAGCATCACAGGCCCGGCAGCAG
CACCTGAGTTCGCTGCAGGACTACATGCAGCGCTGCACCAATGAGCTGTACTGGCTGGACCAGCAGGCCAAGGGCCGCATGCAGTACGACTGGAGTGACCGCAAC
CTCGACTACCCCAGCCGCCGGCGCCAGTATGAGAATTTCATCAACCGGAACCTGGAGGCCAAAGAGGAGAGAATCAACAAACTGCACAGCGAGGGCGACCAGCTG
CTGGCGGCCGAGCACCCCGGGAGGAACTCCATTGAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCAC
CTCAAGTACATGGAGGACTACCACCAGTTTCACGAAGACGTGAAGGACGCTCAGGAGCTGCTGCGCAAGGTGGACTCGGACCTGAACCAGAAGTATGGCCCTGAC
TTCAAGGACCGGTACCAGATTGAGCTGCTGCTGCGGGAGCTGGATGACCAGGAGAAGGTGCTGGACAAGTATGAGGACGTGGTGCAGGGGCTGCAGAAGCGAGGC
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>PPL|5493|protein
MNSLFRKRNKGKYSPTVQTRSISNKELSELIEQLQKNADQVEKNIVDTEAKMQSDLARLQEGRQPEHRDVTLQKVLDSEKLLYVLEADAAIAKHMKHPQGDMIAE
DIRQLKERVTNLRGKHKQIYRLAVKEVDPQVNWAALVEEKLDKLNNQSFGTDLPLVDHQVEEHNIFHNEVKAIGPHLAKDGDKEQNSELRAKYQKLLAASQARQQ
HLSSLQDYMQRCTNELYWLDQQAKGRMQYDWSDRNLDYPSRRRQYENFINRNLEAKEERINKLHSEGDQLLAAEHPGRNSIEAHMEAVHADWKEYLNLLICEESH
LKYMEDYHQFHEDVKDAQELLRKVDSDLNQKYGPDFKDRYQIELLLRELDDQEKVLDKYEDVVQGLQKRGQQVVPLKYRRETPLKPIPVEALCDFEGEQGLISRG
YSYTLQKNNGESWELMDSAGNKLIAPAVCFVIPPTDPEALALADSLGSQYRSVRQKAAGSKRTLQQRYEVLKTENPGDASDLQGRQLLAGLDKVASDLDRQEKAI
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MNSLFRKRNKGKYSPTVQTRSISNKELSELIEQLQKNADQVEKNIVDTEAKMQSDLARLQEGRQPEHRDVTLQKVLDSEKLLYVLEADAAIAKHMKHPQGDMIAE
DIRQLKERVTNLRGKHKQIYRLAVKEVDPQVNWAALVEEKLDKLNNQSFGTDLPLVDHQVEEHNIFHNEVKAIGPHLAKDGDKEQNSELRAKYQKLLAASQARQQ
HLSSLQDYMQRCTNELYWLDQQAKGRMQYDWSDRNLDYPSRRRQYENFINRNLEAKEERINKLHSEGDQLLAAEHPGRNSIEAHMEAVHADWKEYLNLLICEESH
LKYMEDYHQFHEDVKDAQELLRKVDSDLNQKYGPDFKDRYQIELLLRELDDQEKVLDKYEDVVQGLQKRGQQVVPLKYRRETPLKPIPVEALCDFEGEQGLISRG
YSYTLQKNNGESWELMDSAGNKLIAPAVCFVIPPTDPEALALADSLGSQYRSVRQKAAGSKRTLQQRYEVLKTENPGDASDLQGRQLLAGLDKVASDLDRQEKAI
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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) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (4) |
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 | ||||||
Bremer, 2011 | - | aCGH | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Buxbaum, 2004 | USA | microsatellite-based genomic screen | autism | 115 | - | 115 | - | - | - | - | ||
Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
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 Top
NGS Other Studies Top
Low Scale Gene Studies Top
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