Evidence Details for PPDPF
Basic Information Top
Gene Symbol: | PPDPF ( C20orf149,FLJ21046,MGC2479,dJ697K14.9 ) |
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Gene Full Name: | pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) |
Band: | 20q13.33 |
Quick Links | Entrez ID:79144; OMIM: NA; Uniprot ID:PPDPF_HUMAN; ENSEMBL ID: ENSG00000125534; HGNC ID: 16142 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PPDPF|79144|nucleotide
ATGGCGGCCATCCCCTCCAGCGGCTCGCTCGTGGCCACCCACGACTACTACCGGCGCCGCCTGGGTTCCACTTCCAGCAACAGCTCCTGCAGCAGTACCGAGTGC
CCCGGGGAAGCCATTCCCCACCCCCCAGGTCTCCCCAAGGCTGACCCGGGTCATTGGTGGGCCAGCTTCTTTTTCGGGAAGTCCACCCTCCCGTTCATGGCCACG
GTGTTGGAGTCCGCAGAGCACTCGGAACCTCCCCAGGCCTCCAGCAGCATGACCGCCTGTGGCCTGGCTCGGGACGCCCCGAGGAAGCAGCCCGGCGGTCAGTCC
AGCACAGCCAGCGCTGGGCCCCCGTCCTGA
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ATGGCGGCCATCCCCTCCAGCGGCTCGCTCGTGGCCACCCACGACTACTACCGGCGCCGCCTGGGTTCCACTTCCAGCAACAGCTCCTGCAGCAGTACCGAGTGC
CCCGGGGAAGCCATTCCCCACCCCCCAGGTCTCCCCAAGGCTGACCCGGGTCATTGGTGGGCCAGCTTCTTTTTCGGGAAGTCCACCCTCCCGTTCATGGCCACG
GTGTTGGAGTCCGCAGAGCACTCGGAACCTCCCCAGGCCTCCAGCAGCATGACCGCCTGTGGCCTGGCTCGGGACGCCCCGAGGAAGCAGCCCGGCGGTCAGTCC
AGCACAGCCAGCGCTGGGCCCCCGTCCTGA
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>PPDPF|79144|protein
MAAIPSSGSLVATHDYYRRRLGSTSSNSSCSSTECPGEAIPHPPGLPKADPGHWWASFFFGKSTLPFMATVLESAEHSEPPQASSSMTACGLARDAPRKQPGGQS
STASAGPPS
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MAAIPSSGSLVATHDYYRRRLGSTSSNSSCSSTECPGEAIPHPPGLPKADPGHWWASFFFGKSTLPFMATVLESAEHSEPPQASSSMTACGLARDAPRKQPGGQS
STASAGPPS
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Evidence summary Top
Click 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 |
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Score (No. of Studies) | No | 1 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
No Evidence. |
Case Control Based Association Studies: 1
Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
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MIXED/OTHERS | ||||||||||||
Anney RJL, 2017_3 | replication | 1369 (-) | ASD | - - |
- | 137308 (-) |
- - |
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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