Evidence Details for PRODH
Basic Information Top
| Gene Symbol: | PRODH ( FLJ33744,HSPOX2,MGC148078,MGC148079,PIG6,POX,PRODH1,PRODH2,SCZD4,TP53I6 ) |
|---|---|
| Gene Full Name: | proline dehydrogenase (oxidase) 1 |
| Band: | 22q11.21 |
| Quick Links | Entrez ID:5625; OMIM: 606810; Uniprot ID:PROD_HUMAN; ENSEMBL ID: ENSG00000100033; HGNC ID: 9453 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PRODH|5625|nucleotide
ATGAAGATGACCTTCTATGGGCATTTTGTAGCCGGGGAGGACCAGGAGTCCATCCAGCCCCTGCTTCGGCACTACAGGGCCTTCGGTGTCAGCGCCATCCTGGAC
TATGGAGTGGAGGAGGACCTGAGCCCCGAGGAGGCAGAGCACAAGGAGATGGAGTCCTGCACCTCAGCTGCGGAGAGGGATGGCAGTGGCACGAATAAGCGGGAC
AAGCAATACCAGGCCCACCGGGCCTTCGGGGACCGCAGGAATGGTGTCATCAGTGCCCGCACCTACTTCTACGCCAATGAGGCCAAGTGCGACAGCCACATGGAG
ACATTCTTGCGCTGCATCGAAGCCTCAGGTAGAGTCAGCGATGACGGCTTCATAGCCATTAAGCTCACAGCACTGGGGAGACCCCAGTTTCTGCTGCAGTTCTCA
GAGGTGCTGGCCAAGTGGAGGTGCTTCTTTCACCAAATGGCTGTGGAGCAAGGGCAGGCGGGCCTGGCTGCCATGGACACCAAGCTGGAGGTGGCGGTGCTGCAG
GAAAGTGTCGCAAAGTTGGGCATCGCATCCAGGGCTGAGATTGAGGACTGGTTCACGGCAGAGACCCTGGGAGTGTCTGGCACCATGGACCTGCTGGACTGGAGC
AGCCTCATCGACAGCAGGACCAAGCTGTCCAAGCACTTGGTAGTCCCCAACGCACAGACAGGACAGCTGGAGCCCCTGCTGTCCCGGTTCACTGAGGAGGAGGAG
CTACAGATGACCAGGATGCTACAGCGGATGGATGTCCTGGCCAAGAAAGCCACAGAGATGGGCGTGCGGCTGATGGTGGATGCCGAGCAGACCTACTTCCAGCCG
GCCATCAGCCGCCTGACGCTGGAGATGCAGCGGAAGTTCAATGTGGAGAAGCCGCTCATCTTCAACACATACCAGTGCTACCTCAAGGATGCCTATGACAATGTG
ACCCTGGACGTGGAGCTGGCTCGCCGTGAGGGCTGGTGTTTTGGGGCCAAGCTGGTGCGGGGCGCATACCTGGCCCAGGAGCGAGCCCGTGCGGCAGAGATCGGC
TATGAGGACCCCATCAACCCCACGTACGAGGCCACCAACGCCATGTACCACAGGTGCCTGGACTACGTGTTGGAGGAGCTGAAGCACAACGCCAAGGCCAAGGTG
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ATGAAGATGACCTTCTATGGGCATTTTGTAGCCGGGGAGGACCAGGAGTCCATCCAGCCCCTGCTTCGGCACTACAGGGCCTTCGGTGTCAGCGCCATCCTGGAC
TATGGAGTGGAGGAGGACCTGAGCCCCGAGGAGGCAGAGCACAAGGAGATGGAGTCCTGCACCTCAGCTGCGGAGAGGGATGGCAGTGGCACGAATAAGCGGGAC
AAGCAATACCAGGCCCACCGGGCCTTCGGGGACCGCAGGAATGGTGTCATCAGTGCCCGCACCTACTTCTACGCCAATGAGGCCAAGTGCGACAGCCACATGGAG
ACATTCTTGCGCTGCATCGAAGCCTCAGGTAGAGTCAGCGATGACGGCTTCATAGCCATTAAGCTCACAGCACTGGGGAGACCCCAGTTTCTGCTGCAGTTCTCA
GAGGTGCTGGCCAAGTGGAGGTGCTTCTTTCACCAAATGGCTGTGGAGCAAGGGCAGGCGGGCCTGGCTGCCATGGACACCAAGCTGGAGGTGGCGGTGCTGCAG
GAAAGTGTCGCAAAGTTGGGCATCGCATCCAGGGCTGAGATTGAGGACTGGTTCACGGCAGAGACCCTGGGAGTGTCTGGCACCATGGACCTGCTGGACTGGAGC
AGCCTCATCGACAGCAGGACCAAGCTGTCCAAGCACTTGGTAGTCCCCAACGCACAGACAGGACAGCTGGAGCCCCTGCTGTCCCGGTTCACTGAGGAGGAGGAG
CTACAGATGACCAGGATGCTACAGCGGATGGATGTCCTGGCCAAGAAAGCCACAGAGATGGGCGTGCGGCTGATGGTGGATGCCGAGCAGACCTACTTCCAGCCG
GCCATCAGCCGCCTGACGCTGGAGATGCAGCGGAAGTTCAATGTGGAGAAGCCGCTCATCTTCAACACATACCAGTGCTACCTCAAGGATGCCTATGACAATGTG
ACCCTGGACGTGGAGCTGGCTCGCCGTGAGGGCTGGTGTTTTGGGGCCAAGCTGGTGCGGGGCGCATACCTGGCCCAGGAGCGAGCCCGTGCGGCAGAGATCGGC
TATGAGGACCCCATCAACCCCACGTACGAGGCCACCAACGCCATGTACCACAGGTGCCTGGACTACGTGTTGGAGGAGCTGAAGCACAACGCCAAGGCCAAGGTG
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>PRODH|5625|protein
MKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQYQAHRAFGDRRNGVISARTYFYANEAKCDSHME
TFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWS
SLIDSRTKLSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAYDNV
TLDVELARREGWCFGAKLVRGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNEDTVRFALRRMEELGLHPADHQVYFGQLL
GMCDQISFPLGQAGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA
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MKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQYQAHRAFGDRRNGVISARTYFYANEAKCDSHME
TFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWS
SLIDSRTKLSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAYDNV
TLDVELARREGWCFGAKLVRGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNEDTVRFALRRMEELGLHPADHQVYFGQLL
GMCDQISFPLGQAGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA
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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 (0) | 2 (12) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (13) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
| Chen CP, 2014 | - | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Soueid J, 2016 | Lebanese | - | | | autistic | 35 | 33 | 2 | - | 41 | 37 | 78 |
| Kanduri C, 2016 | Finnish | - | | | autism | 83 | - | - | - | 257 | 288 | 545 |
Linkage Studies Top