Evidence Details for PARD3
Basic Information Top
| Gene Symbol: | PARD3 ( ASIP,Baz,Bazooka,FLJ21015,PAR3,PAR3alpha,PARD3A,SE2-5L16,SE2-5LT1,SE2-5T2 ) |
|---|---|
| Gene Full Name: | par-3 partitioning defective 3 homolog (C. elegans) |
| Band: | 10p11.22-p11.21 |
| Quick Links | Entrez ID:56288; OMIM: 606745; Uniprot ID:PARD3_HUMAN; ENSEMBL ID: ENSG00000148498; HGNC ID: 16051 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PARD3|56288|nucleotide
ATGAAAGTGACCGTGTGCTTCGGACGGACCCGGGTGGTCGTGCCGTGCGGGGACGGCCACATGAAAGTTTTCAGCCTCATCCAGCAGGCGGTGACCCGCTACCGG
AAGGCCATCGCCAAGGATCCAAACTACTGGATACAGGTGCATCGCTTGGAACATGGAGATGGAGGAATACTAGACCTTGATGACATTCTTTGTGATGTAGCAGAC
GATAAAGACAGACTGGTAGCAGTGTTTGATGAGCAGGATCCACATCACGGAGGTGATGGCACCAGTGCCAGTTCCACGGGTACCCAGAGCCCAGAGATATTTGGT
AGTGAGCTTGGCACCAACAATGTCTCAGCCTTTCAGCCTTACCAAGCAACAAGTGAAATTGAGGTCACACCTTCAGTCCTTCGAGCAAATATGCCTCTTCATGTT
CGACGCAGTAGTGACCCAGCTCTAATTGGCCTCTCCACTTCTGTCAGTGATAGTAATTTTTCCTCTGAAGAGCCTTCAAGGAAAAATCCCACACGCTGGTCAACA
ACAGCTGGCTTCCTCAAGCAGAACACTGCTGGGAGTCCTAAAACCTGCGACAGGAAGAAAGATGAAAACTACAGAAGCCTCCCGCGGGATACTAGTAACTGGTCT
AACCAATTTCAGAGAGACAATGCTCGCTCGTCTCTGAGTGCCAGTCACCCAATGGTGGGCAAGTGGCTGGAGAAACAAGAACAGGATGAGGATGGGACAGAAGAG
GATAACAGTCGTGTTGAACCTGTTGGACATGCTGACACGGGTTTGGAGCATATACCCAACTTTTCTCTGGATGATATGGTAAAGCTCGTAGAAGTCCCCAACGAT
GGAGGGCCTCTGGGAATCCATGTAGTGCCTTTCAGTGCTCGAGGCGGCAGAACCCTGGGGTTATTAGTAAAACGATTGGAGAAAGGTGGTAAAGCTGAACATGAA
AATCTTTTTCGTGAGAATGATTGCATTGTCAGGATTAATGATGGCGACCTTCGAAATAGAAGATTTGAACAAGCACAACATATGTTTCGCCAAGCCATGCGTACA
CCCATCATTTGGTTCCATGTGGTTCCTGCAGCAAATAAAGAGCAGTATGAACAACTATCCCAAAGTGAGAAGAACAATTACTATTCAAGCCGTTTTAGCCCTGAC
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ATGAAAGTGACCGTGTGCTTCGGACGGACCCGGGTGGTCGTGCCGTGCGGGGACGGCCACATGAAAGTTTTCAGCCTCATCCAGCAGGCGGTGACCCGCTACCGG
AAGGCCATCGCCAAGGATCCAAACTACTGGATACAGGTGCATCGCTTGGAACATGGAGATGGAGGAATACTAGACCTTGATGACATTCTTTGTGATGTAGCAGAC
GATAAAGACAGACTGGTAGCAGTGTTTGATGAGCAGGATCCACATCACGGAGGTGATGGCACCAGTGCCAGTTCCACGGGTACCCAGAGCCCAGAGATATTTGGT
AGTGAGCTTGGCACCAACAATGTCTCAGCCTTTCAGCCTTACCAAGCAACAAGTGAAATTGAGGTCACACCTTCAGTCCTTCGAGCAAATATGCCTCTTCATGTT
CGACGCAGTAGTGACCCAGCTCTAATTGGCCTCTCCACTTCTGTCAGTGATAGTAATTTTTCCTCTGAAGAGCCTTCAAGGAAAAATCCCACACGCTGGTCAACA
ACAGCTGGCTTCCTCAAGCAGAACACTGCTGGGAGTCCTAAAACCTGCGACAGGAAGAAAGATGAAAACTACAGAAGCCTCCCGCGGGATACTAGTAACTGGTCT
AACCAATTTCAGAGAGACAATGCTCGCTCGTCTCTGAGTGCCAGTCACCCAATGGTGGGCAAGTGGCTGGAGAAACAAGAACAGGATGAGGATGGGACAGAAGAG
GATAACAGTCGTGTTGAACCTGTTGGACATGCTGACACGGGTTTGGAGCATATACCCAACTTTTCTCTGGATGATATGGTAAAGCTCGTAGAAGTCCCCAACGAT
GGAGGGCCTCTGGGAATCCATGTAGTGCCTTTCAGTGCTCGAGGCGGCAGAACCCTGGGGTTATTAGTAAAACGATTGGAGAAAGGTGGTAAAGCTGAACATGAA
AATCTTTTTCGTGAGAATGATTGCATTGTCAGGATTAATGATGGCGACCTTCGAAATAGAAGATTTGAACAAGCACAACATATGTTTCGCCAAGCCATGCGTACA
CCCATCATTTGGTTCCATGTGGTTCCTGCAGCAAATAAAGAGCAGTATGAACAACTATCCCAAAGTGAGAAGAACAATTACTATTCAAGCCGTTTTAGCCCTGAC
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>PARD3|56288|protein
MKVTVCFGRTRVVVPCGDGHMKVFSLIQQAVTRYRKAIAKDPNYWIQVHRLEHGDGGILDLDDILCDVADDKDRLVAVFDEQDPHHGGDGTSASSTGTQSPEIFG
SELGTNNVSAFQPYQATSEIEVTPSVLRANMPLHVRRSSDPALIGLSTSVSDSNFSSEEPSRKNPTRWSTTAGFLKQNTAGSPKTCDRKKDENYRSLPRDTSNWS
NQFQRDNARSSLSASHPMVGKWLEKQEQDEDGTEEDNSRVEPVGHADTGLEHIPNFSLDDMVKLVEVPNDGGPLGIHVVPFSARGGRTLGLLVKRLEKGGKAEHE
NLFRENDCIVRINDGDLRNRRFEQAQHMFRQAMRTPIIWFHVVPAANKEQYEQLSQSEKNNYYSSRFSPDSQYIDNRSVNSAGLHTVQRAPRLNHPPEQIDSHSR
LPHSAHPSGKPPSAPASAPQNVFSTTVSSGYNTKKIGKRLNIQLKKGTEGLGFSITSRDVTIGGSAPIYVKNILPRGAAIQDGRLKAGDRLIEVNGVDLVGKSQE
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MKVTVCFGRTRVVVPCGDGHMKVFSLIQQAVTRYRKAIAKDPNYWIQVHRLEHGDGGILDLDDILCDVADDKDRLVAVFDEQDPHHGGDGTSASSTGTQSPEIFG
SELGTNNVSAFQPYQATSEIEVTPSVLRANMPLHVRRSSDPALIGLSTSVSDSNFSSEEPSRKNPTRWSTTAGFLKQNTAGSPKTCDRKKDENYRSLPRDTSNWS
NQFQRDNARSSLSASHPMVGKWLEKQEQDEDGTEEDNSRVEPVGHADTGLEHIPNFSLDDMVKLVEVPNDGGPLGIHVVPFSARGGRTLGLLVKRLEKGGKAEHE
NLFRENDCIVRINDGDLRNRRFEQAQHMFRQAMRTPIIWFHVVPAANKEQYEQLSQSEKNNYYSSRFSPDSQYIDNRSVNSAGLHTVQRAPRLNHPPEQIDSHSR
LPHSAHPSGKPPSAPASAPQNVFSTTVSSGYNTKKIGKRLNIQLKKGTEGLGFSITSRDVTIGGSAPIYVKNILPRGAAIQDGRLKAGDRLIEVNGVDLVGKSQE
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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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low 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.