Evidence Details for PANK2
Basic Information Top
| Gene Symbol: | PANK2 ( C20orf48,FLJ17232,HARP,HSS,MGC15053,NBIA1,PKAN ) |
|---|---|
| Gene Full Name: | pantothenate kinase 2 |
| Band: | 20p13 |
| Quick Links | Entrez ID:80025; OMIM: 606157; Uniprot ID:PANK2_HUMAN; ENSEMBL ID: ENSG00000125779; HGNC ID: 15894 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PANK2|80025|nucleotide
ATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTC
ACAATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTAT
TACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATC
TTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTT
GAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGG
GCTGTGGCTTCAAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATT
GGCTCAATAGCAAGAATGTGTGCCCTTAATGAAAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATAT
GCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGGTTATTTTGGAGCTGTTGGAGCACTCCTTGAGCTGTTGAAGATCCCGTGA
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ATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTC
ACAATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTAT
TACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATC
TTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTT
GAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGG
GCTGTGGCTTCAAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATT
GGCTCAATAGCAAGAATGTGTGCCCTTAATGAAAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATAT
GCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGGTTATTTTGGAGCTGTTGGAGCACTCCTTGAGCTGTTGAAGATCCCGTGA
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>PANK2|80025|protein
MPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSI
LAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNI
GSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP
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MPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSI
LAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNI
GSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP
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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) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 10 (3) |
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 | ||||||
| Sebat, 2007 | USA | aCGH |  |  | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top