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 |
| Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.