Evidence Details for PDZD2
Basic Information Top
| Gene Symbol: | PDZD2 ( AIPC,KIAA0300,PAPIN,PDZK3,PIN1 ) |
|---|---|
| Gene Full Name: | PDZ domain containing 2 |
| Band: | 5p13.3 |
| Quick Links | Entrez ID:23037; OMIM: 610697; Uniprot ID:PDZD2_HUMAN; ENSEMBL ID: ENSG00000133401; HGNC ID: 18486 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PDZD2|23037|nucleotide
ATGCCCATCACCCAGGACAATGCCGTGCTGCACCTGCCCCTCCTCTACCAGTGGCTGCAGAACAGCCTGCAGGAAGGTGGGGATGGGCCGGAGCAGCGGCTCTGC
CAGGCGGCCATCCAGAAGCTGCAGGAGTACATCCAGCTGAACTTTGCTGTGGATGAGAGTACGGTCCCACCTGATCACAGCCCCCCCGAAATGGAGATCTGTACT
GTGTACCTCACCAAGGAGCTGGGGGACACAGAGACTGTGGGCCTGAGTTTTGGGAACATCCCTGTTTTCGGGGACTATGGTGAAAAGCGCAGGGGGGGCAAGAAG
AGGAAAACCCACCAGGGTCCTGTGCTGGATGTGGGCTGCATCTGGGTGACAGAGCTGAGGAAGAACAGCCCAGCAGGGAAGAGTGGGAAGGTCCGACTGCGGGAT
GAGATCCTCTCACTGAATGGGCAGCTGATGGTTGGAGTTGATGTCAGTGGGGCCAGTTACCTGGCTGAGCAGTGCTGGAATGGCGGCTTTATCTACCTGATCATG
CTGCGTCGCTTTAAGCACAAAGCCCACTCCACTTATAATGGCAACAGTAGCAACAGCTCTGAACCAGGAGAAACACCTACCTTGGAGCTGGGTGACCGAACTGCG
AAAAAGGGGAAACGAACCAGAAAGTTTGGGGTCATCTCCAGGCCTCCTGCCAACAAGGCCCCTGAAGAATCCAAGGGCAGCGCTGGCTGTGAGGTGTCCAGTGAC
CCCAGCACTGAGCTGGAGAACGGCCCTGACCCTGAACTTGGAAACGGCCATGTCTTTCAGCTAGAAAATGGCCCAGATTCTCTCAAGGAGGTGGCTGGACCCCAT
CTAGAGAGGTCAGAAGTGGACAGAGGGACAGAGCATAGAATTCCAAAGACAGATGCTCCTCTGACCACAAGCAATGACAAACGCCGCTTCTCAAAAGGTGGGAAG
ACGGACTTCCAATCGAGTGACTGCCTGGCACGGGAGGAAGTTGGCCGAATATGGAAGATGGAGCTGCTCAAAGAATCGGATGGGCTGGGAATTCAGGTTAGTGGA
GGCCGAGGATCAAAGCGCTCACCTCACGCTATCGTTGTCACTCAAGTGAAGGAAGGAGGTGCCGCTCACAGGGATGGCAGGCTGTCCTTAGGAGATGAGCTGCTG
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ATGCCCATCACCCAGGACAATGCCGTGCTGCACCTGCCCCTCCTCTACCAGTGGCTGCAGAACAGCCTGCAGGAAGGTGGGGATGGGCCGGAGCAGCGGCTCTGC
CAGGCGGCCATCCAGAAGCTGCAGGAGTACATCCAGCTGAACTTTGCTGTGGATGAGAGTACGGTCCCACCTGATCACAGCCCCCCCGAAATGGAGATCTGTACT
GTGTACCTCACCAAGGAGCTGGGGGACACAGAGACTGTGGGCCTGAGTTTTGGGAACATCCCTGTTTTCGGGGACTATGGTGAAAAGCGCAGGGGGGGCAAGAAG
AGGAAAACCCACCAGGGTCCTGTGCTGGATGTGGGCTGCATCTGGGTGACAGAGCTGAGGAAGAACAGCCCAGCAGGGAAGAGTGGGAAGGTCCGACTGCGGGAT
GAGATCCTCTCACTGAATGGGCAGCTGATGGTTGGAGTTGATGTCAGTGGGGCCAGTTACCTGGCTGAGCAGTGCTGGAATGGCGGCTTTATCTACCTGATCATG
CTGCGTCGCTTTAAGCACAAAGCCCACTCCACTTATAATGGCAACAGTAGCAACAGCTCTGAACCAGGAGAAACACCTACCTTGGAGCTGGGTGACCGAACTGCG
AAAAAGGGGAAACGAACCAGAAAGTTTGGGGTCATCTCCAGGCCTCCTGCCAACAAGGCCCCTGAAGAATCCAAGGGCAGCGCTGGCTGTGAGGTGTCCAGTGAC
CCCAGCACTGAGCTGGAGAACGGCCCTGACCCTGAACTTGGAAACGGCCATGTCTTTCAGCTAGAAAATGGCCCAGATTCTCTCAAGGAGGTGGCTGGACCCCAT
CTAGAGAGGTCAGAAGTGGACAGAGGGACAGAGCATAGAATTCCAAAGACAGATGCTCCTCTGACCACAAGCAATGACAAACGCCGCTTCTCAAAAGGTGGGAAG
ACGGACTTCCAATCGAGTGACTGCCTGGCACGGGAGGAAGTTGGCCGAATATGGAAGATGGAGCTGCTCAAAGAATCGGATGGGCTGGGAATTCAGGTTAGTGGA
GGCCGAGGATCAAAGCGCTCACCTCACGCTATCGTTGTCACTCAAGTGAAGGAAGGAGGTGCCGCTCACAGGGATGGCAGGCTGTCCTTAGGAGATGAGCTGCTG
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>PDZD2|23037|protein
MPITQDNAVLHLPLLYQWLQNSLQEGGDGPEQRLCQAAIQKLQEYIQLNFAVDESTVPPDHSPPEMEICTVYLTKELGDTETVGLSFGNIPVFGDYGEKRRGGKK
RKTHQGPVLDVGCIWVTELRKNSPAGKSGKVRLRDEILSLNGQLMVGVDVSGASYLAEQCWNGGFIYLIMLRRFKHKAHSTYNGNSSNSSEPGETPTLELGDRTA
KKGKRTRKFGVISRPPANKAPEESKGSAGCEVSSDPSTELENGPDPELGNGHVFQLENGPDSLKEVAGPHLERSEVDRGTEHRIPKTDAPLTTSNDKRRFSKGGK
TDFQSSDCLAREEVGRIWKMELLKESDGLGIQVSGGRGSKRSPHAIVVTQVKEGGAAHRDGRLSLGDELLVINGHLLVGLSHEEAVAILRSATGMVQLVVASKEN
SAEDLLRLTSKSLPDLTSSVEDVSSWTDNEDQEADGEEDEGTSSSVQRAMPGTDEPQDVCGAEESKGNLESPKQGSNKIKLKSRLSGGVHRLESVEEYNELMVRN
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MPITQDNAVLHLPLLYQWLQNSLQEGGDGPEQRLCQAAIQKLQEYIQLNFAVDESTVPPDHSPPEMEICTVYLTKELGDTETVGLSFGNIPVFGDYGEKRRGGKK
RKTHQGPVLDVGCIWVTELRKNSPAGKSGKVRLRDEILSLNGQLMVGVDVSGASYLAEQCWNGGFIYLIMLRRFKHKAHSTYNGNSSNSSEPGETPTLELGDRTA
KKGKRTRKFGVISRPPANKAPEESKGSAGCEVSSDPSTELENGPDPELGNGHVFQLENGPDSLKEVAGPHLERSEVDRGTEHRIPKTDAPLTTSNDKRRFSKGGK
TDFQSSDCLAREEVGRIWKMELLKESDGLGIQVSGGRGSKRSPHAIVVTQVKEGGAAHRDGRLSLGDELLVINGHLLVGLSHEEAVAILRSATGMVQLVVASKEN
SAEDLLRLTSKSLPDLTSSVEDVSSWTDNEDQEADGEEDEGTSSSVQRAMPGTDEPQDVCGAEESKGNLESPKQGSNKIKLKSRLSGGVHRLESVEEYNELMVRN
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (3) |
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 TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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 Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS 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.