Evidence Details for ANP32A
 Basic Information Top
 Basic Information Top
| Gene Symbol: | ANP32A ( C15orf1,I1PP2A,LANP,MAPM,MGC119787,MGC150373,PHAP1,PHAPI,PP32 ) | 
|---|---|
| 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
 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
 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 | 
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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
Syndromic Autism Gene Top
 Genome-Wide Association Studies(By Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
 CNV Studies Top
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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
Linkage Studies Top
 Low Scale Association Studies (by Ethnic Group) Top
Low Scale Association Studies (by Ethnic Group) Top
 Large Scale Expression Studies Top
Large Scale Expression Studies Top
 NGS de novo Mutation 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 Mosaic SNV Studies Top
 NGS Other Studies Top
NGS Other Studies Top
 Low Scale Gene Studies Top
 Low Scale Gene Studies Top
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