Evidence Details for PCDH15
Basic Information Top
| Gene Symbol: | PCDH15 ( CDHR15,DFNB23,DKFZp667A1711,USH1F ) |
|---|---|
| Gene Full Name: | protocadherin-related 15 |
| Band: | 10q21.1 |
| Quick Links | Entrez ID:65217; OMIM: 605514; Uniprot ID:PCD15_HUMAN; ENSEMBL ID: ENSG00000150275; HGNC ID: 14674 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PCDH15|65217|nucleotide
ATGTTTCGACAGTTTTATCTCTGGACATGTTTAGCTTCAGGGATCATCCTGGGCTCTCTCTTTGAAATCTGCTTGGGCCAGTATGATGATGACTGGCAATATGAG
GATTGCAAACTAGCTAGGGGAGGACCACCAGCTACCATAGTTGCTATTGATGAAGAAAGTCGGAATGGTACAATTCTGGTGGACAACATGCTGATCAAAGGGACT
GCTGGAGGACCAGACCCCACCATAGAACTTTCTTTAAAGGATAATGTGGATTACTGGGTGTTGATGGATCCTGTTAAGCAAATGCTTTTCCTGAACAGCACCGGA
AGAGTTCTGGATAGAGATCCACCGATGAACATACACTCCATTGTGGTGCAGGTCCAGTGCATCAACAAAAAAGTGGGCACTATTATCTACCATGAAGTGCGAATA
GTGGTGAGAGACAGGAATGACAACTCACCCACTTTCAAGCATGAAAGCTACTATGCCACAGTGAATGAGCTCACTCCAGTTGGTACCACAATATTCACAGGATTT
TCAGGAGACAATGGAGCTACAGATATAGATGATGGACCAAATGGACAGATAGAGTATGTTATTCAGTATAATCCAGATGATCCGACATCCAATGACACCTTTGAA
ATTCCCCTAATGTTGACTGGAAATATAGTGTTAAGGAAGAGGCTCAACTATGAAGATAAGACTCGCTACTTTGTCATAATCCAAGCTAATGACCGTGCCCAAAAT
CTGAATGAGAGGCGAACCACCACCACCACTCTCACAGTGGATGTTCTGGATGGAGATGACTTGGGTCCAATGTTTCTTCCTTGTGTCCTTGTGCCAAACACTCGT
GATTGCCGTCCACTCACTTATCAAGCTGCCATACCTGAGTTGAGAACTCCGGAAGAACTGAACCCCATTATTGTTACGCCACCAATCCAAGCCATTGATCAGGAC
CGGAATATTCAACCGCCATCAGATAGGCCAGGAATCCTCTATTCCATCCTTGTTGGGACTCCTGAGGATTACCCACGATTTTTCCATATGCATCCTAGGACAGCA
GAACTTAGTCTCCTGGAGCCAGTAAACAGAGACTTTCACCAGAAATTTGATTTGGTTATTAAGGCTGAACAAGACAATGGTCATCCTCTTCCTGCCTTTGCCGGT
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ATGTTTCGACAGTTTTATCTCTGGACATGTTTAGCTTCAGGGATCATCCTGGGCTCTCTCTTTGAAATCTGCTTGGGCCAGTATGATGATGACTGGCAATATGAG
GATTGCAAACTAGCTAGGGGAGGACCACCAGCTACCATAGTTGCTATTGATGAAGAAAGTCGGAATGGTACAATTCTGGTGGACAACATGCTGATCAAAGGGACT
GCTGGAGGACCAGACCCCACCATAGAACTTTCTTTAAAGGATAATGTGGATTACTGGGTGTTGATGGATCCTGTTAAGCAAATGCTTTTCCTGAACAGCACCGGA
AGAGTTCTGGATAGAGATCCACCGATGAACATACACTCCATTGTGGTGCAGGTCCAGTGCATCAACAAAAAAGTGGGCACTATTATCTACCATGAAGTGCGAATA
GTGGTGAGAGACAGGAATGACAACTCACCCACTTTCAAGCATGAAAGCTACTATGCCACAGTGAATGAGCTCACTCCAGTTGGTACCACAATATTCACAGGATTT
TCAGGAGACAATGGAGCTACAGATATAGATGATGGACCAAATGGACAGATAGAGTATGTTATTCAGTATAATCCAGATGATCCGACATCCAATGACACCTTTGAA
ATTCCCCTAATGTTGACTGGAAATATAGTGTTAAGGAAGAGGCTCAACTATGAAGATAAGACTCGCTACTTTGTCATAATCCAAGCTAATGACCGTGCCCAAAAT
CTGAATGAGAGGCGAACCACCACCACCACTCTCACAGTGGATGTTCTGGATGGAGATGACTTGGGTCCAATGTTTCTTCCTTGTGTCCTTGTGCCAAACACTCGT
GATTGCCGTCCACTCACTTATCAAGCTGCCATACCTGAGTTGAGAACTCCGGAAGAACTGAACCCCATTATTGTTACGCCACCAATCCAAGCCATTGATCAGGAC
CGGAATATTCAACCGCCATCAGATAGGCCAGGAATCCTCTATTCCATCCTTGTTGGGACTCCTGAGGATTACCCACGATTTTTCCATATGCATCCTAGGACAGCA
GAACTTAGTCTCCTGGAGCCAGTAAACAGAGACTTTCACCAGAAATTTGATTTGGTTATTAAGGCTGAACAAGACAATGGTCATCCTCTTCCTGCCTTTGCCGGT
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>PCDH15|65217|protein
MFRQFYLWTCLASGIILGSLFEICLGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTG
RVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFE
IPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQD
RNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATIS
DSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYT
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MFRQFYLWTCLASGIILGSLFEICLGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTG
RVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFE
IPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQD
RNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATIS
DSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYT
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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 | 1 (1) | 1 (5) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 1 (1) | 16 (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) |
||||||
| MIXED/OTHERS | |||||||||||
| Anney R, 2012_2 | - | Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray | 2705 | - (-) |  | | 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 | ||||||
| Sebat, 2007 | USA | aCGH | |  | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
| Laplana M, 2014 | - | aCGH | | | ASD | 1 | - | - | - | 1 | 5 | 6 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | |||||||||||
| Ishizuka K, 2016_2 | Japanese | ABI PRISM 7900HT Sequence Detection System and TaqMan | | | ASD | 19.6 - |
- | 1917 (44.71%) |
44.7 - | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
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.