Evidence Details for AIMP2
Basic Information Top
| Gene Symbol: | AIMP2 ( JTV-1,JTV1,P38 ) |
|---|---|
| Gene Full Name: | aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 |
| Band: | 7p22.1 |
| Quick Links | Entrez ID:7965; OMIM: 600859; Uniprot ID:AIMP2_HUMAN; ENSEMBL ID: ENSG00000106305; HGNC ID: 20609 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AIMP2|7965|nucleotide
ATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTAC
GGCCCAGCGCCGGGCGCTGGCCACGTGCAGGAAGAGTCTAACCTGTCTCTGCAAGCTCTTGAGTCCCGCCAAGATGATATTTTAAAACGTCTGTATGAGTTGAAA
GCTGCAGTTGATGGCCTCTCCAAGATGATTCAAACACCAGATGCAGACTTGGATGTAACCAACATAATCCAAGCGGATGAGCCCACGACTTTAACCACCAATGCG
CTGGACTTGAATTCAGTGCTTGGGAAGGATTACGGGGCGCTGAAAGACATCGTGATCAACGCAAACCCGGCCTCCCCTCCCCTCTCCCTGCTTGTGCTGCACAGG
CTGCTCTGTGAGCACTTCAGGGTCCTGTCCACGGTGCACACGCACTCCTCGGTCAAGAGCGTGCCTGAAAACCTTCTCAAGTGCTTTGGAGAACAGAATAAAAAA
CAGCCCCGCCAAGACTATCAGCTGGGATTCACTTTAATTTGGAAGAATGTGCCGAAGACGCAGATGAAATTCAGCATCCAGACGATGTGCCCCATCGAAGGCGAA
GGGAACATTGCACGTTTCTTGTTCTCTCTGTTTGGCCAGAAGCATAATGCTGTCAACGCAACCCTTATAGATAGCTGGGTAGATATTGCGATTTTTCAGTTAAAA
GAGGGAAGCAGTAAAGAAAAAGCCGCTGTTTTCCGCTCCATGAACTCTGCTCTTGGGAAGAGCCCTTGGCTCGCTGGGAATGAACTCACCGTAGCAGACGTGGTG
CTGTGGTCTGTACTCCAGCAGATCGGAGGCTGCAGTGTGACAGTGCCAGCCAATGTGCAGAGGTGGATGAGGTCTTGTGAAAACCTGGCTCCTTTTAACACGGCC
CTCAAGCTCCTTAAGTGA
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ATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTAC
GGCCCAGCGCCGGGCGCTGGCCACGTGCAGGAAGAGTCTAACCTGTCTCTGCAAGCTCTTGAGTCCCGCCAAGATGATATTTTAAAACGTCTGTATGAGTTGAAA
GCTGCAGTTGATGGCCTCTCCAAGATGATTCAAACACCAGATGCAGACTTGGATGTAACCAACATAATCCAAGCGGATGAGCCCACGACTTTAACCACCAATGCG
CTGGACTTGAATTCAGTGCTTGGGAAGGATTACGGGGCGCTGAAAGACATCGTGATCAACGCAAACCCGGCCTCCCCTCCCCTCTCCCTGCTTGTGCTGCACAGG
CTGCTCTGTGAGCACTTCAGGGTCCTGTCCACGGTGCACACGCACTCCTCGGTCAAGAGCGTGCCTGAAAACCTTCTCAAGTGCTTTGGAGAACAGAATAAAAAA
CAGCCCCGCCAAGACTATCAGCTGGGATTCACTTTAATTTGGAAGAATGTGCCGAAGACGCAGATGAAATTCAGCATCCAGACGATGTGCCCCATCGAAGGCGAA
GGGAACATTGCACGTTTCTTGTTCTCTCTGTTTGGCCAGAAGCATAATGCTGTCAACGCAACCCTTATAGATAGCTGGGTAGATATTGCGATTTTTCAGTTAAAA
GAGGGAAGCAGTAAAGAAAAAGCCGCTGTTTTCCGCTCCATGAACTCTGCTCTTGGGAAGAGCCCTTGGCTCGCTGGGAATGAACTCACCGTAGCAGACGTGGTG
CTGTGGTCTGTACTCCAGCAGATCGGAGGCTGCAGTGTGACAGTGCCAGCCAATGTGCAGAGGTGGATGAGGTCTTGTGAAAACCTGGCTCCTTTTAACACGGCC
CTCAAGCTCCTTAAGTGA
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>AIMP2|7965|protein
MPMYQVKPYHGGGAPLRVELPTCMYRLPNVHGRSYGPAPGAGHVQEESNLSLQALESRQDDILKRLYELKAAVDGLSKMIQTPDADLDVTNIIQADEPTTLTTNA
LDLNSVLGKDYGALKDIVINANPASPPLSLLVLHRLLCEHFRVLSTVHTHSSVKSVPENLLKCFGEQNKKQPRQDYQLGFTLIWKNVPKTQMKFSIQTMCPIEGE
GNIARFLFSLFGQKHNAVNATLIDSWVDIAIFQLKEGSSKEKAAVFRSMNSALGKSPWLAGNELTVADVVLWSVLQQIGGCSVTVPANVQRWMRSCENLAPFNTA
LKLLK
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MPMYQVKPYHGGGAPLRVELPTCMYRLPNVHGRSYGPAPGAGHVQEESNLSLQALESRQDDILKRLYELKAAVDGLSKMIQTPDADLDVTNIIQADEPTTLTTNA
LDLNSVLGKDYGALKDIVINANPASPPLSLLVLHRLLCEHFRVLSTVHTHSSVKSVPENLLKCFGEQNKKQPRQDYQLGFTLIWKNVPKTQMKFSIQTMCPIEGE
GNIARFLFSLFGQKHNAVNATLIDSWVDIAIFQLKEGSSKEKAAVFRSMNSALGKSPWLAGNELTVADVVLWSVLQQIGGCSVTVPANVQRWMRSCENLAPFNTA
LKLLK
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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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Yu, 2002 | USA | STS mapping |  | | PDD | 105 | - | 105 | - | - | 668 | 668 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
| Goitia V, 2015 | Hispanic | array CGH | - | - | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top