Evidence Details for PCDH10
Basic Information Top
Gene Symbol: | PCDH10 ( DKFZp761O2023,KIAA1400,MGC133344,OL-PCDH,PCDH19 ) |
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Gene Full Name: | protocadherin 10 |
Band: | 4q28.3 |
Quick Links | Entrez ID:57575; OMIM: 608286; Uniprot ID:PCD10_HUMAN; ENSEMBL ID: ENSG00000138650; HGNC ID: 13404 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PCDH10|57575|nucleotide
ATGATTGTGCTATTATTGTTTGCCTTGCTCTGGATGGTGGAAGGAGTCTTTTCCCAGCTTCACTACACGGTACAGGAGGAGCAGGAACATGGCACTTTCGTGGGG
AATATCGCTGAAGATCTGGGTCTGGACATTACAAAACTTTCGGCTCGCGGGTTTCAGACGGTGCCCAACTCAAGGACCCCTTACTTAGACCTCAACCTGGAGACA
GGGGTGCTGTACGTGAACGAGAAAATAGACCGCGAACAAATCTGCAAACAGAGCCCCTCCTGTGTCCTGCACCTGGAGGTCTTTCTGGAGAACCCCCTGGAGCTG
TTCCAGGTGGAGATCGAGGTGCTGGACATTAATGACAACCCCCCCTCTTTCCCGGAGCCAGACCTGACGGTGGAAATCTCTGAGAGCGCCACGCCAGGCACTCGC
TTCCCCTTGGAGAGCGCATTCGACCCAGACGTGGGCACCAACTCCTTGCGCGACTACGAGATCACCCCCAACAGCTACTTCTCCCTGGACGTGCAGACCCAGGGG
GATGGCAACCGATTCGCTGAGCTGGTGCTGGAGAAGCCACTGGACCGAGAGCAGCAAGCGGTGCACCGCTACGTGCTGACCGCGGTGGACGGAGGAGGTGGGGGA
GGAGTAGGAGAAGGAGGGGGAGGTGGCGGGGGAGCAGGCCTGCCCCCCCAGCAGCAGCGCACCGGCACGGCCCTACTCACCATCCGAGTGCTGGACTCCAATGAC
AATGTGCCCGCTTTCGACCAACCCGTCTACACTGTGTCCCTACCAGAGAACTCTCCCCCAGGCACTCTCGTGATCCAGCTCAACGCCACCGACCCGGACGAGGGC
CAGAACGGTGAGGTCGTGTACTCCTTCAGCAGCCACATTTCGCCCCGGGCGCGGGAGCTTTTCGGACTCTCGCCGCGCACTGGCAGACTGGAGGTAAGCGGCGAG
TTGGACTATGAAGAGAGCCCAGTGTACCAAGTGTACGTGCAAGCCAAGGACCTGGGCCCCAACGCCGTGCCTGCGCACTGCAAGGTGCTAGTGCGAGTACTGGAT
GCTAATGACAACGCGCCAGAGATCAGCTTCAGCACCGTGAAGGAAGCGGTGAGTGAGGGCGCGGCGCCCGGCACTGTGGTGGCCCTTTTCAGCGTGACTGACCGC
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ATGATTGTGCTATTATTGTTTGCCTTGCTCTGGATGGTGGAAGGAGTCTTTTCCCAGCTTCACTACACGGTACAGGAGGAGCAGGAACATGGCACTTTCGTGGGG
AATATCGCTGAAGATCTGGGTCTGGACATTACAAAACTTTCGGCTCGCGGGTTTCAGACGGTGCCCAACTCAAGGACCCCTTACTTAGACCTCAACCTGGAGACA
GGGGTGCTGTACGTGAACGAGAAAATAGACCGCGAACAAATCTGCAAACAGAGCCCCTCCTGTGTCCTGCACCTGGAGGTCTTTCTGGAGAACCCCCTGGAGCTG
TTCCAGGTGGAGATCGAGGTGCTGGACATTAATGACAACCCCCCCTCTTTCCCGGAGCCAGACCTGACGGTGGAAATCTCTGAGAGCGCCACGCCAGGCACTCGC
TTCCCCTTGGAGAGCGCATTCGACCCAGACGTGGGCACCAACTCCTTGCGCGACTACGAGATCACCCCCAACAGCTACTTCTCCCTGGACGTGCAGACCCAGGGG
GATGGCAACCGATTCGCTGAGCTGGTGCTGGAGAAGCCACTGGACCGAGAGCAGCAAGCGGTGCACCGCTACGTGCTGACCGCGGTGGACGGAGGAGGTGGGGGA
GGAGTAGGAGAAGGAGGGGGAGGTGGCGGGGGAGCAGGCCTGCCCCCCCAGCAGCAGCGCACCGGCACGGCCCTACTCACCATCCGAGTGCTGGACTCCAATGAC
AATGTGCCCGCTTTCGACCAACCCGTCTACACTGTGTCCCTACCAGAGAACTCTCCCCCAGGCACTCTCGTGATCCAGCTCAACGCCACCGACCCGGACGAGGGC
CAGAACGGTGAGGTCGTGTACTCCTTCAGCAGCCACATTTCGCCCCGGGCGCGGGAGCTTTTCGGACTCTCGCCGCGCACTGGCAGACTGGAGGTAAGCGGCGAG
TTGGACTATGAAGAGAGCCCAGTGTACCAAGTGTACGTGCAAGCCAAGGACCTGGGCCCCAACGCCGTGCCTGCGCACTGCAAGGTGCTAGTGCGAGTACTGGAT
GCTAATGACAACGCGCCAGAGATCAGCTTCAGCACCGTGAAGGAAGCGGTGAGTGAGGGCGCGGCGCCCGGCACTGTGGTGGCCCTTTTCAGCGTGACTGACCGC
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>PCDH10|57575|protein
MIVLLLFALLWMVEGVFSQLHYTVQEEQEHGTFVGNIAEDLGLDITKLSARGFQTVPNSRTPYLDLNLETGVLYVNEKIDREQICKQSPSCVLHLEVFLENPLEL
FQVEIEVLDINDNPPSFPEPDLTVEISESATPGTRFPLESAFDPDVGTNSLRDYEITPNSYFSLDVQTQGDGNRFAELVLEKPLDREQQAVHRYVLTAVDGGGGG
GVGEGGGGGGGAGLPPQQQRTGTALLTIRVLDSNDNVPAFDQPVYTVSLPENSPPGTLVIQLNATDPDEGQNGEVVYSFSSHISPRARELFGLSPRTGRLEVSGE
LDYEESPVYQVYVQAKDLGPNAVPAHCKVLVRVLDANDNAPEISFSTVKEAVSEGAAPGTVVALFSVTDRDSEENGQVQCELLGDVPFRLKSSFKNYYTIVTEAP
LDREAGDSYTLTVVARDRGEPALSTSKSIQVQVSDVNDNAPRFSQPVYDVYVTENNVPGAYIYAVSATDRDEGANAQLAYSILECQIQGMSVFTYVSINSENGYL
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MIVLLLFALLWMVEGVFSQLHYTVQEEQEHGTFVGNIAEDLGLDITKLSARGFQTVPNSRTPYLDLNLETGVLYVNEKIDREQICKQSPSCVLHLEVFLENPLEL
FQVEIEVLDINDNPPSFPEPDLTVEISESATPGTRFPLESAFDPDVGTNSLRDYEITPNSYFSLDVQTQGDGNRFAELVLEKPLDREQQAVHRYVLTAVDGGGGG
GVGEGGGGGGGAGLPPQQQRTGTALLTIRVLDSNDNVPAFDQPVYTVSLPENSPPGTLVIQLNATDPDEGQNGEVVYSFSSHISPRARELFGLSPRTGRLEVSGE
LDYEESPVYQVYVQAKDLGPNAVPAHCKVLVRVLDANDNAPEISFSTVKEAVSEGAAPGTVVALFSVTDRDSEENGQVQCELLGDVPFRLKSSFKNYYTIVTEAP
LDREAGDSYTLTVVARDRGEPALSTSKSIQVQVSDVNDNAPRFSQPVYDVYVTENNVPGAYIYAVSATDRDEGANAQLAYSILECQIQGMSVFTYVSINSENGYL
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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 (1) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 13 (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 | ||||||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Schellenberg, 2006 | USA | microsatellite-based genomic screen | autism | 222 | - | 222 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large 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 | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.956133 | Down | 54.9681 | |||
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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 |
---|---|---|---|---|
Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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