Evidence Details for PCDH9
Basic Information Top
| Gene Symbol: | PCDH9 ( - ) |
|---|---|
| Gene Full Name: | protocadherin 9 |
| Band: | 13q21.32 |
| Quick Links | Entrez ID:5101; OMIM: 603581; Uniprot ID:PCDH9_HUMAN; ENSEMBL ID: ENSG00000184226; HGNC ID: 8661 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PCDH9|5101|nucleotide
ATGGACCTGAGGGATTTTTACCTGTTGGCTGCTCTGATTGCCTGTTTAAGGCTGGATTCCGCAATAGCTCAAGAACTTATTTACACTATTAGAGAGGAATTGCCT
GAAAATGTGCCCATAGGAAACATACCAAAGGATCTGAACATTTCTCACATCAATGCTGCCACAGGGACCAGCGCCAGCCTTGTCTACAGACTGGTTTCTAAAGCT
GGGGATGCCCCTTTGGTGAAAGTTTCCAGCAGCACTGGGGAAATTTTCACAACCTCCAACAGAATAGACAGAGAAAAACTCTGTGCTGGCGCCTCATATGCTGAG
GAGAATGAGTGTTTCTTTGAACTTGAGGTGGTGATCCTCCCCAATGATTTCTTCAGGCTGATCAAAATAAAAATAATTGTCAAGGATACCAATGATAATGCCCCC
ATGTTTCCATCTCCTGTCATCAATATTTCCATTCCAGAAAACACTTTGATCAACAGCCGCTTTCCAATTCCATCAGCAACAGATCCTGACACAGGCTTCAATGGT
GTACAGCATTATGAATTGTTAAATGGGCAGAGTGTTTTTGGACTGGATATCGTGGAAACTCCAGAGGGAGAGAAGTGGCCACAACTGATTGTTCAGCAAAACTTG
GATAGAGAACAGAAAGATACCTATGTGATGAAAATCAAAGTAGAGGATGGAGGCACTCCACAGAAATCCAGTACGGCCATACTGCAGGTCACAGTAAGTGATGTA
AATGACAACAGGCCAGTGTTTAAAGAGGGTCAAGTGGAGGTGCATATTCCAGAGAATGCTCCCGTAGGTACCTCTGTAATTCAGCTCCATGCCACTGATGCAGAT
ATAGGCAGTAATGCTGAAATCCGGTACATTTTTGGTGCCCAGGTCGCCCCTGCAACCAAAAGACTCTTTGCTTTAAATAATACTACTGGGCTGATTACAGTTCAG
AGGTCCTTAGATAGAGAGGAGACAGCCATTCACAAAGTGACAGTGCTGGCTAGTGACGGCAGCTCCACTCCTGCTCGAGCAACGGTTACCATCAATGTCACCGAT
GTAAATGATAACCCTCCTAATATAGACCTCAGGTACATTATAAGTCCCATCAATGGCACCGTGTATTTATCTGAGAAAGATCCTGTCAATACAAAGATTGCCCTA
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ATGGACCTGAGGGATTTTTACCTGTTGGCTGCTCTGATTGCCTGTTTAAGGCTGGATTCCGCAATAGCTCAAGAACTTATTTACACTATTAGAGAGGAATTGCCT
GAAAATGTGCCCATAGGAAACATACCAAAGGATCTGAACATTTCTCACATCAATGCTGCCACAGGGACCAGCGCCAGCCTTGTCTACAGACTGGTTTCTAAAGCT
GGGGATGCCCCTTTGGTGAAAGTTTCCAGCAGCACTGGGGAAATTTTCACAACCTCCAACAGAATAGACAGAGAAAAACTCTGTGCTGGCGCCTCATATGCTGAG
GAGAATGAGTGTTTCTTTGAACTTGAGGTGGTGATCCTCCCCAATGATTTCTTCAGGCTGATCAAAATAAAAATAATTGTCAAGGATACCAATGATAATGCCCCC
ATGTTTCCATCTCCTGTCATCAATATTTCCATTCCAGAAAACACTTTGATCAACAGCCGCTTTCCAATTCCATCAGCAACAGATCCTGACACAGGCTTCAATGGT
GTACAGCATTATGAATTGTTAAATGGGCAGAGTGTTTTTGGACTGGATATCGTGGAAACTCCAGAGGGAGAGAAGTGGCCACAACTGATTGTTCAGCAAAACTTG
GATAGAGAACAGAAAGATACCTATGTGATGAAAATCAAAGTAGAGGATGGAGGCACTCCACAGAAATCCAGTACGGCCATACTGCAGGTCACAGTAAGTGATGTA
AATGACAACAGGCCAGTGTTTAAAGAGGGTCAAGTGGAGGTGCATATTCCAGAGAATGCTCCCGTAGGTACCTCTGTAATTCAGCTCCATGCCACTGATGCAGAT
ATAGGCAGTAATGCTGAAATCCGGTACATTTTTGGTGCCCAGGTCGCCCCTGCAACCAAAAGACTCTTTGCTTTAAATAATACTACTGGGCTGATTACAGTTCAG
AGGTCCTTAGATAGAGAGGAGACAGCCATTCACAAAGTGACAGTGCTGGCTAGTGACGGCAGCTCCACTCCTGCTCGAGCAACGGTTACCATCAATGTCACCGAT
GTAAATGATAACCCTCCTAATATAGACCTCAGGTACATTATAAGTCCCATCAATGGCACCGTGTATTTATCTGAGAAAGATCCTGTCAATACAAAGATTGCCCTA
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>PCDH9|5101|protein
MDLRDFYLLAALIACLRLDSAIAQELIYTIREELPENVPIGNIPKDLNISHINAATGTSASLVYRLVSKAGDAPLVKVSSSTGEIFTTSNRIDREKLCAGASYAE
ENECFFELEVVILPNDFFRLIKIKIIVKDTNDNAPMFPSPVINISIPENTLINSRFPIPSATDPDTGFNGVQHYELLNGQSVFGLDIVETPEGEKWPQLIVQQNL
DREQKDTYVMKIKVEDGGTPQKSSTAILQVTVSDVNDNRPVFKEGQVEVHIPENAPVGTSVIQLHATDADIGSNAEIRYIFGAQVAPATKRLFALNNTTGLITVQ
RSLDREETAIHKVTVLASDGSSTPARATVTINVTDVNDNPPNIDLRYIISPINGTVYLSEKDPVNTKIALITVSDKDTDVNGKVICFIEREVPFHLKAVYDNQYL
LETSSLLDYEGTKEFSFKIVASDSGKPSLNQTALVRVKLEDENDNPPIFNQPVIELSVSENNRRGLYLTTISATDEDSGKNADIVYQLGPNASFFDLDRKTGVLT
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MDLRDFYLLAALIACLRLDSAIAQELIYTIREELPENVPIGNIPKDLNISHINAATGTSASLVYRLVSKAGDAPLVKVSSSTGEIFTTSNRIDREKLCAGASYAE
ENECFFELEVVILPNDFFRLIKIKIIVKDTNDNAPMFPSPVINISIPENTLINSRFPIPSATDPDTGFNGVQHYELLNGQSVFGLDIVETPEGEKWPQLIVQQNL
DREQKDTYVMKIKVEDGGTPQKSSTAILQVTVSDVNDNRPVFKEGQVEVHIPENAPVGTSVIQLHATDADIGSNAEIRYIFGAQVAPATKRLFALNNTTGLITVQ
RSLDREETAIHKVTVLASDGSSTPARATVTINVTDVNDNPPNIDLRYIISPINGTVYLSEKDPVNTKIALITVSDKDTDVNGKVICFIEREVPFHLKAVYDNQYL
LETSSLLDYEGTKEFSFKIVASDSGKPSLNQTALVRVKLEDENDNPPIFNQPVIELSVSENNRRGLYLTTISATDEDSGKNADIVYQLGPNASFFDLDRKTGVLT
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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 (1) | 1 (8) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (9) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Steele, 2001 | - | Chromosomal analysis of G-band | | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Daniel, 2007 | - | SNP microarray | | | ASD | - | - | - | - | 1 | - | 1 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
Linkage Studies Top