Evidence Details for PIR
Basic Information Top
| Gene Symbol: | PIR ( - ) |
|---|---|
| Gene Full Name: | pirin (iron-binding nuclear protein) |
| Band: | Xp22.2 |
| Quick Links | Entrez ID:8544; OMIM: 603329; Uniprot ID:PIR_HUMAN; ENSEMBL ID: ENSG00000087842; HGNC ID: 30048 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PIR|8544|nucleotide
ATGGGGTCCTCCAAGAAAGTTACTCTCTCAGTGCTCAGCCGGGAGCAGTCGGAAGGGGTTGGAGCGAGGGTCCGGAGAAGCATTGGCAGACCCGAGTTAAAAAAT
CTGGATCCGTTTTTACTGTTTGATGAATTTAAAGGAGGTAGACCAGGAGGATTTCCTGATCATCCACATCGAGGTTTTGAAACAGTATCCTACCTCCTGGAAGGG
GGCAGCATGGCCCATGAAGACTTCTGTGGACACACTGGTAAAATGAACCCAGGAGATTTGCAGTGGATGACTGCGGGCCGGGGCATTCTGCACGCTGAGATGCCT
TGCTCAGAGGAGCCAGCCCATGGCCTACAACTGTGGGTTAATTTGAGGAGCTCAGAGAAGATGGTGGAGCCTCAGTACCAGGAACTGAAAAGTGAAGAAATCCCT
AAACCCAGTAAGGATGGTGTGACAGTTGCTGTCATTTCTGGAGAAGCCCTGGGAATAAAGTCCAAGGTTTACACTCGCACACCAACCTTATATTTGGACTTCAAA
TTGGACCCAGGAGCCAAACATTCCCAACCTATCCCTAAAGGGTGGACAAGCTTCATTTACACGATATCTGGAGATGTGTATATTGGGCCCGATGATGCACAACAA
AAAATAGAACCTCATCACACAGCAGTGCTTGGAGAAGGTGACAGTGTCCAGGTGGAGAACAAGGATCCCAAGAGAAGCCACTTTGTCTTAATTGCTGGGGAGCCA
TTAAGAGAACCAGTTATCCAACATGGTCCATTTGTGATGAACACCAATGAAGAGATTTCTCAAGCTATTCTTGATTTCAGAAACGCAAAAAATGGGTTTGAAAGG
GCCAAAACCTGGAAATCAAAGATTGGGAACTAG
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ATGGGGTCCTCCAAGAAAGTTACTCTCTCAGTGCTCAGCCGGGAGCAGTCGGAAGGGGTTGGAGCGAGGGTCCGGAGAAGCATTGGCAGACCCGAGTTAAAAAAT
CTGGATCCGTTTTTACTGTTTGATGAATTTAAAGGAGGTAGACCAGGAGGATTTCCTGATCATCCACATCGAGGTTTTGAAACAGTATCCTACCTCCTGGAAGGG
GGCAGCATGGCCCATGAAGACTTCTGTGGACACACTGGTAAAATGAACCCAGGAGATTTGCAGTGGATGACTGCGGGCCGGGGCATTCTGCACGCTGAGATGCCT
TGCTCAGAGGAGCCAGCCCATGGCCTACAACTGTGGGTTAATTTGAGGAGCTCAGAGAAGATGGTGGAGCCTCAGTACCAGGAACTGAAAAGTGAAGAAATCCCT
AAACCCAGTAAGGATGGTGTGACAGTTGCTGTCATTTCTGGAGAAGCCCTGGGAATAAAGTCCAAGGTTTACACTCGCACACCAACCTTATATTTGGACTTCAAA
TTGGACCCAGGAGCCAAACATTCCCAACCTATCCCTAAAGGGTGGACAAGCTTCATTTACACGATATCTGGAGATGTGTATATTGGGCCCGATGATGCACAACAA
AAAATAGAACCTCATCACACAGCAGTGCTTGGAGAAGGTGACAGTGTCCAGGTGGAGAACAAGGATCCCAAGAGAAGCCACTTTGTCTTAATTGCTGGGGAGCCA
TTAAGAGAACCAGTTATCCAACATGGTCCATTTGTGATGAACACCAATGAAGAGATTTCTCAAGCTATTCTTGATTTCAGAAACGCAAAAAATGGGTTTGAAAGG
GCCAAAACCTGGAAATCAAAGATTGGGAACTAG
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>PIR|8544|protein
MGSSKKVTLSVLSREQSEGVGARVRRSIGRPELKNLDPFLLFDEFKGGRPGGFPDHPHRGFETVSYLLEGGSMAHEDFCGHTGKMNPGDLQWMTAGRGILHAEMP
CSEEPAHGLQLWVNLRSSEKMVEPQYQELKSEEIPKPSKDGVTVAVISGEALGIKSKVYTRTPTLYLDFKLDPGAKHSQPIPKGWTSFIYTISGDVYIGPDDAQQ
KIEPHHTAVLGEGDSVQVENKDPKRSHFVLIAGEPLREPVIQHGPFVMNTNEEISQAILDFRNAKNGFERAKTWKSKIGN
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MGSSKKVTLSVLSREQSEGVGARVRRSIGRPELKNLDPFLLFDEFKGGRPGGFPDHPHRGFETVSYLLEGGSMAHEDFCGHTGKMNPGDLQWMTAGRGILHAEMP
CSEEPAHGLQLWVNLRSSEKMVEPQYQELKSEEIPKPSKDGVTVAVISGEALGIKSKVYTRTPTLYLDFKLDPGAKHSQPIPKGWTSFIYTISGDVYIGPDDAQQ
KIEPHHTAVLGEGDSVQVENKDPKRSHFVLIAGEPLREPVIQHGPFVMNTNEEISQAILDFRNAKNGFERAKTWKSKIGN
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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) | 1 (2) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 12 (5) |
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 | ||||||
| Vazna, 2010 | Czech | aCGH |  |  | ASD | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top