Evidence Details for ANP32A
Basic Information Top
Gene Symbol: | ANP32A ( C15orf1,I1PP2A,LANP,MAPM,MGC119787,MGC150373,PHAP1,PHAPI,PP32 ) |
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Gene Full Name: | acidic (leucine-rich) nuclear phosphoprotein 32 family, member A |
Band: | 15q23 |
Quick Links | Entrez ID:8125; OMIM: 600832; Uniprot ID:AN32A_HUMAN; ENSEMBL ID: ENSG00000140350; HGNC ID: 13233 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ANP32A|8125|nucleotide
ATGGAGATGGGCAGACGGATTCATTTAGAGCTGCGGAACAGGACGCCCTCTGATGTGAAAGAACTTGTCCTGGACAACAGTCGGTCGAATGAAGGCAAACTCGAA
GGCCTCACAGATGAATTTGAAGAACTGGAATTCTTAAGTACAATCAACGTAGGCCTCACCTCAATCGCAAACTTACCAAAGTTAAACAAACTTAAGAAGCTTGAA
CTAAGCGATAACAGAGTCTCAGGGGGCCTGGAAGTATTGGCAGAAAAGTGTCCGAACCTCACGCATCTAAATTTAAGTGGCAACAAAATTAAAGACCTCAGCACA
ATAGAGCCACTGAAAAAGTTAGAAAACCTCAAGAGCTTAGACCTTTTCAATTGCGAGGTAACCAACCTGAACGACTACCGAGAAAATGTGTTCAAGCTCCTCCCG
CAACTCACATATCTCGACGGCTATGACCGGGACGACAAGGAGGCCCCTGACTCGGATGCTGAGGGCTACGTGGAGGGCCTGGATGATGAGGAGGAGGATGAGGAT
GAGGAGGAGTATGATGAAGATGCTCAGGTAGTGGAAGACGAGGAGGACGAGGATGAGGAGGAGGAAGGTGAAGAGGAGGACGTGAGTGGAGAGGAGGAGGAGGAT
GAAGAAGGTTATAACGATGGAGAGGTAGATGACGAGGAAGATGAAGAAGAGCTTGGTGAAGAAGAAAGGGGTCAGAAGCGAAAACGAGAACCTGAAGATGAGGGA
GAAGATGATGACTAA
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ATGGAGATGGGCAGACGGATTCATTTAGAGCTGCGGAACAGGACGCCCTCTGATGTGAAAGAACTTGTCCTGGACAACAGTCGGTCGAATGAAGGCAAACTCGAA
GGCCTCACAGATGAATTTGAAGAACTGGAATTCTTAAGTACAATCAACGTAGGCCTCACCTCAATCGCAAACTTACCAAAGTTAAACAAACTTAAGAAGCTTGAA
CTAAGCGATAACAGAGTCTCAGGGGGCCTGGAAGTATTGGCAGAAAAGTGTCCGAACCTCACGCATCTAAATTTAAGTGGCAACAAAATTAAAGACCTCAGCACA
ATAGAGCCACTGAAAAAGTTAGAAAACCTCAAGAGCTTAGACCTTTTCAATTGCGAGGTAACCAACCTGAACGACTACCGAGAAAATGTGTTCAAGCTCCTCCCG
CAACTCACATATCTCGACGGCTATGACCGGGACGACAAGGAGGCCCCTGACTCGGATGCTGAGGGCTACGTGGAGGGCCTGGATGATGAGGAGGAGGATGAGGAT
GAGGAGGAGTATGATGAAGATGCTCAGGTAGTGGAAGACGAGGAGGACGAGGATGAGGAGGAGGAAGGTGAAGAGGAGGACGTGAGTGGAGAGGAGGAGGAGGAT
GAAGAAGGTTATAACGATGGAGAGGTAGATGACGAGGAAGATGAAGAAGAGCTTGGTGAAGAAGAAAGGGGTCAGAAGCGAAAACGAGAACCTGAAGATGAGGGA
GAAGATGATGACTAA
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>ANP32A|8125|protein
MEMGRRIHLELRNRTPSDVKELVLDNSRSNEGKLEGLTDEFEELEFLSTINVGLTSIANLPKLNKLKKLELSDNRVSGGLEVLAEKCPNLTHLNLSGNKIKDLST
IEPLKKLENLKSLDLFNCEVTNLNDYRENVFKLLPQLTYLDGYDRDDKEAPDSDAEGYVEGLDDEEEDEDEEEYDEDAQVVEDEEDEDEEEEGEEEDVSGEEEED
EEGYNDGEVDDEEDEEELGEEERGQKRKREPEDEGEDDD
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MEMGRRIHLELRNRTPSDVKELVLDNSRSNEGKLEGLTDEFEELEFLSTINVGLTSIANLPKLNKLKKLELSDNRVSGGLEVLAEKCPNLTHLNLSGNKIKDLST
IEPLKKLENLKSLDLFNCEVTNLNDYRENVFKLLPQLTYLDGYDRDDKEAPDSDAEGYVEGLDDEEEDEDEEEYDEDAQVVEDEEDEDEEEEGEEEDVSGEEEED
EEGYNDGEVDDEEDEEELGEEERGQKRKREPEDEGEDDD
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Evidence summary Top
Click 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 |
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Score (No. of Studies) | No | 0 (0) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
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Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Smith, 2000 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 | ||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Krumm N, 2015 | 2377 | 1373 | 77 | Excess of rare, inherited truncating mutations in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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