Evidence Details for AASDHPPT
Basic Information Top
| Gene Symbol: | AASDHPPT ( AASD-PPT,DKFZp566E2346,LYS2,LYS5 ) |
|---|---|
| Gene Full Name: | aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
| Band: | 11q22.3 |
| Quick Links | Entrez ID:60496; OMIM: 607756; Uniprot ID:ADPPT_HUMAN; ENSEMBL ID: ENSG00000149313; HGNC ID: 14235 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AASDHPPT|60496|nucleotide
ATGGTTTTCCCTGCCAAACGGTTCTGCTTGGTGCCATCCATGGAGGGCGTGCGCTGGGCCTTTTCCTGCGGCACTTGGCTGCCGAGCCGAGCCGAATGGCTGCTG
GCAGTGCGATCGATTCAGCCCGAGGAGAAGGAGCGCATTGGCCAGTTCGTCTTTGCCCGGGACGCTAAGGCAGCCATGGCTGGTCGTCTGATGATAAGGAAATTA
GTTGCAGAGAAATTGAATATCCCTTGGAATCATATTCGTTTGCAAAGAACTGCAAAAGGAAAACCAGTTCTTGCAAAGGACTCATCGAATCCTTACCCGAATTTC
AACTTTAACATCTCTCATCAAGGAGACTATGCAGTGCTTGCTGCTGAACCTGAGCTGCAAGTTGGAATTGATATAATGAAGACTAGTTTTCCAGGTCGTGGTTCA
ATTCCAGAATTCTTTCATATTATGAAAAGAAAGTTTACCAACAAAGAATGGGAAACAATCAGAAGCTTTAAGGATGAGTGGACTCAGCTGGATATGTTTTATAGG
AATTGGGCACTTAAGGAAAGCTTCATAAAAGCCATTGGTGTTGGACTAGGATTTGAATTGCAGCGGCTTGAATTTGATCTATCTCCATTAAACTTGGATATAGGC
CAAGTTTATAAAGAAACACGTTTATTCCTGGATGGAGAGGAAGAAAAAGAATGGGCATTTGAGGAAAGCAAAATAGATGAGCACCATTTTGTTGCAGTTGCTCTT
AGGAAACCCGATGGATCTAGACATCAGGATGTTCCATCTCAGGATGATTCCAAACCAACCCAGAGGCAATTTACTATTCTCAACTTTAATGATTTAATGTCATCT
GCCGTTCCCATGACACCTGAAGATCCTTCATTTTGGGACTGTTTTTGCTTCACAGAAGAAATTCCAATACGAAATGGTACAAAGTCATGA
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ATGGTTTTCCCTGCCAAACGGTTCTGCTTGGTGCCATCCATGGAGGGCGTGCGCTGGGCCTTTTCCTGCGGCACTTGGCTGCCGAGCCGAGCCGAATGGCTGCTG
GCAGTGCGATCGATTCAGCCCGAGGAGAAGGAGCGCATTGGCCAGTTCGTCTTTGCCCGGGACGCTAAGGCAGCCATGGCTGGTCGTCTGATGATAAGGAAATTA
GTTGCAGAGAAATTGAATATCCCTTGGAATCATATTCGTTTGCAAAGAACTGCAAAAGGAAAACCAGTTCTTGCAAAGGACTCATCGAATCCTTACCCGAATTTC
AACTTTAACATCTCTCATCAAGGAGACTATGCAGTGCTTGCTGCTGAACCTGAGCTGCAAGTTGGAATTGATATAATGAAGACTAGTTTTCCAGGTCGTGGTTCA
ATTCCAGAATTCTTTCATATTATGAAAAGAAAGTTTACCAACAAAGAATGGGAAACAATCAGAAGCTTTAAGGATGAGTGGACTCAGCTGGATATGTTTTATAGG
AATTGGGCACTTAAGGAAAGCTTCATAAAAGCCATTGGTGTTGGACTAGGATTTGAATTGCAGCGGCTTGAATTTGATCTATCTCCATTAAACTTGGATATAGGC
CAAGTTTATAAAGAAACACGTTTATTCCTGGATGGAGAGGAAGAAAAAGAATGGGCATTTGAGGAAAGCAAAATAGATGAGCACCATTTTGTTGCAGTTGCTCTT
AGGAAACCCGATGGATCTAGACATCAGGATGTTCCATCTCAGGATGATTCCAAACCAACCCAGAGGCAATTTACTATTCTCAACTTTAATGATTTAATGTCATCT
GCCGTTCCCATGACACCTGAAGATCCTTCATTTTGGGACTGTTTTTGCTTCACAGAAGAAATTCCAATACGAAATGGTACAAAGTCATGA
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>AASDHPPT|60496|protein
MVFPAKRFCLVPSMEGVRWAFSCGTWLPSRAEWLLAVRSIQPEEKERIGQFVFARDAKAAMAGRLMIRKLVAEKLNIPWNHIRLQRTAKGKPVLAKDSSNPYPNF
NFNISHQGDYAVLAAEPELQVGIDIMKTSFPGRGSIPEFFHIMKRKFTNKEWETIRSFKDEWTQLDMFYRNWALKESFIKAIGVGLGFELQRLEFDLSPLNLDIG
QVYKETRLFLDGEEEKEWAFEESKIDEHHFVAVALRKPDGSRHQDVPSQDDSKPTQRQFTILNFNDLMSSAVPMTPEDPSFWDCFCFTEEIPIRNGTKS
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MVFPAKRFCLVPSMEGVRWAFSCGTWLPSRAEWLLAVRSIQPEEKERIGQFVFARDAKAAMAGRLMIRKLVAEKLNIPWNHIRLQRTAKGKPVLAKDSSNPYPNF
NFNISHQGDYAVLAAEPELQVGIDIMKTSFPGRGSIPEFFHIMKRKFTNKEWETIRSFKDEWTQLDMFYRNWALKESFIKAIGVGLGFELQRLEFDLSPLNLDIG
QVYKETRLFLDGEEEKEWAFEESKIDEHHFVAVALRKPDGSRHQDVPSQDDSKPTQRQFTILNFNDLMSSAVPMTPEDPSFWDCFCFTEEIPIRNGTKS
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top