Evidence Details for SCCPDH
Basic Information Top
| Gene Symbol: | SCCPDH ( FLJ43187,NET11,RP11-439E19.2 ) |
|---|---|
| Gene Full Name: | saccharopine dehydrogenase (putative) |
| Band: | 1q44 |
| Quick Links | Entrez ID:51097; OMIM: NA; Uniprot ID:SCPDH_HUMAN; ENSEMBL ID: ENSG00000143653; HGNC ID: 24275 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SCCPDH|51097|nucleotide
ATGGCGACCGAGCAGAGGCCTTTCCACCTGGTGGTGTTCGGCGCGTCTGGCTTCACCGGCCAGTTCGTGACCGAGGAGGTGGCCCGGGAGCAGGTGGACCCGGAG
CGGAGCTCCCGCCTGCCCTGGGCCGTGGCGGGCCGCTCCCGGGAGAAGCTGCAGCGGGTGCTGGAGAAGGCGGCCCTGAAGCTGGGAAGACCAACACTGTCATCT
GAAGTTGGAATCATCATCTGTGATATTGCTAATCCAGCCTCGCTTGATGAAATGGCTAAACAGGCAACAGTTGTCCTCAATTGCGTAGGACCATATCGGTTTTAT
GGAGAACCTGTAATAAAAGCATGTATTGAAAATGGAGCCAGTTGTATCGACATCAGTGGAGAACCTCAGTTTCTGGAACTAATGCAACTGAAGTATCATGAGAAA
GCTGCAGACAAAGGGGTTTATATCATTGGAAGCAGCGGCTTTGACTCCATTCCAGCAGATCTGGGAGTAATATATACCAGAAATAAAATGAATGGTACTTTGACT
GCTGTGGAAAGTTTCCTGACTATACATTCAGGACCTGAGGGGTTGAGCATTCATGATGGTACCTGGAAGTCAGCAATTTATGGTTTTGGAGATCAGAGTAATTTG
AGAAAACTAAGAAATGTATCAAATCTGAAACCTGTCCCGCTCATTGGTCCAAAATTGAAGAGAAGGTGGCCAATTTCTTATTGTCGGGAACTCAAAGGTTATTCC
ATTCCTTTTATGGGATCTGATGTGTCTGTTGTAAGGAGGACTCAACGTTACTTGTATGAAAATTTAGAGGAATCACCAGTTCAGTATGCTGCGTATGTAACTGTG
GGAGGCATCACCTCTGTTATTAAGCTGATGTTTGCAGGACTTTTCTTTTTGTTCTTTGTGAGGTTTGGAATTGGAAGGCAACTTCTCATAAAATTCCCATGGTTC
TTCTCCTTTGGCTATTTTTCAAAACAAGGCCCAACACAAAAACAGATTGATGCTGCCTCATTCACGCTGACATTCTTTGGTCAAGGATACAGCCAAGGCACTGGT
ACAGATAAGAACAAACCAAATATCAAAATTTGTACTCAGGTGAAAGGACCAGAGGCTGGCTATGTGGCTACCCCCATAGCTATGGTTCAGGCAGCCATGACTCTT
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ATGGCGACCGAGCAGAGGCCTTTCCACCTGGTGGTGTTCGGCGCGTCTGGCTTCACCGGCCAGTTCGTGACCGAGGAGGTGGCCCGGGAGCAGGTGGACCCGGAG
CGGAGCTCCCGCCTGCCCTGGGCCGTGGCGGGCCGCTCCCGGGAGAAGCTGCAGCGGGTGCTGGAGAAGGCGGCCCTGAAGCTGGGAAGACCAACACTGTCATCT
GAAGTTGGAATCATCATCTGTGATATTGCTAATCCAGCCTCGCTTGATGAAATGGCTAAACAGGCAACAGTTGTCCTCAATTGCGTAGGACCATATCGGTTTTAT
GGAGAACCTGTAATAAAAGCATGTATTGAAAATGGAGCCAGTTGTATCGACATCAGTGGAGAACCTCAGTTTCTGGAACTAATGCAACTGAAGTATCATGAGAAA
GCTGCAGACAAAGGGGTTTATATCATTGGAAGCAGCGGCTTTGACTCCATTCCAGCAGATCTGGGAGTAATATATACCAGAAATAAAATGAATGGTACTTTGACT
GCTGTGGAAAGTTTCCTGACTATACATTCAGGACCTGAGGGGTTGAGCATTCATGATGGTACCTGGAAGTCAGCAATTTATGGTTTTGGAGATCAGAGTAATTTG
AGAAAACTAAGAAATGTATCAAATCTGAAACCTGTCCCGCTCATTGGTCCAAAATTGAAGAGAAGGTGGCCAATTTCTTATTGTCGGGAACTCAAAGGTTATTCC
ATTCCTTTTATGGGATCTGATGTGTCTGTTGTAAGGAGGACTCAACGTTACTTGTATGAAAATTTAGAGGAATCACCAGTTCAGTATGCTGCGTATGTAACTGTG
GGAGGCATCACCTCTGTTATTAAGCTGATGTTTGCAGGACTTTTCTTTTTGTTCTTTGTGAGGTTTGGAATTGGAAGGCAACTTCTCATAAAATTCCCATGGTTC
TTCTCCTTTGGCTATTTTTCAAAACAAGGCCCAACACAAAAACAGATTGATGCTGCCTCATTCACGCTGACATTCTTTGGTCAAGGATACAGCCAAGGCACTGGT
ACAGATAAGAACAAACCAAATATCAAAATTTGTACTCAGGTGAAAGGACCAGAGGCTGGCTATGTGGCTACCCCCATAGCTATGGTTCAGGCAGCCATGACTCTT
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>SCCPDH|51097|protein
MATEQRPFHLVVFGASGFTGQFVTEEVAREQVDPERSSRLPWAVAGRSREKLQRVLEKAALKLGRPTLSSEVGIIICDIANPASLDEMAKQATVVLNCVGPYRFY
GEPVIKACIENGASCIDISGEPQFLELMQLKYHEKAADKGVYIIGSSGFDSIPADLGVIYTRNKMNGTLTAVESFLTIHSGPEGLSIHDGTWKSAIYGFGDQSNL
RKLRNVSNLKPVPLIGPKLKRRWPISYCRELKGYSIPFMGSDVSVVRRTQRYLYENLEESPVQYAAYVTVGGITSVIKLMFAGLFFLFFVRFGIGRQLLIKFPWF
FSFGYFSKQGPTQKQIDAASFTLTFFGQGYSQGTGTDKNKPNIKICTQVKGPEAGYVATPIAMVQAAMTLLSDASHLPKAGGVFTPGAAFSKTKLIDRLNKHGIE
FSVISSSEV
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MATEQRPFHLVVFGASGFTGQFVTEEVAREQVDPERSSRLPWAVAGRSREKLQRVLEKAALKLGRPTLSSEVGIIICDIANPASLDEMAKQATVVLNCVGPYRFY
GEPVIKACIENGASCIDISGEPQFLELMQLKYHEKAADKGVYIIGSSGFDSIPADLGVIYTRNKMNGTLTAVESFLTIHSGPEGLSIHDGTWKSAIYGFGDQSNL
RKLRNVSNLKPVPLIGPKLKRRWPISYCRELKGYSIPFMGSDVSVVRRTQRYLYENLEESPVQYAAYVTVGGITSVIKLMFAGLFFLFFVRFGIGRQLLIKFPWF
FSFGYFSKQGPTQKQIDAASFTLTFFGQGYSQGTGTDKNKPNIKICTQVKGPEAGYVATPIAMVQAAMTLLSDASHLPKAGGVFTPGAAFSKTKLIDRLNKHGIE
FSVISSSEV
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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) | 0 (2) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (4) |
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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Risch, 1999 | USA | microsatellite-based genomic screen | | | PDD | 90 | - | 90 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
1.1406 | Up | 1.94534 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.