Evidence Details for ATXN2L
Basic Information Top
| Gene Symbol: | ATXN2L ( A2D,A2LG,A2LP,A2RP ) |
|---|---|
| Gene Full Name: | ataxin 2-like |
| Band: | 16p11.2 |
| Quick Links | Entrez ID:11273; OMIM: 607931; Uniprot ID:ATX2L_HUMAN; ENSEMBL ID: ENSG00000168488; HGNC ID: 31326 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ATXN2L|11273|nucleotide
ATGTTGAAGCCTCAGCCGCTACAACAGCCCTCCCAGCCCCAGCAGCCGCCCCCCACGCAACAGGCCGTGGCCCGTCGGCCCCCCGGGGGCACCAGCCCTCCCAAC
GGCGGCCTCCCGGGGCCGCTGGCCACCTCTGCGGCTCCTCCCGGGCCTCCAGCGGCCGCCTCCCCCTGCCTGGGGCCTGTGGCCGCTGCCGGGAGCGGGCTCCGC
CGGGGAGCCGAAGGCATCTTGGCGCCGCAGCCGCCGCCGCCGCAGCAACACCAGGAGAGGCCGGGGGCAGCCGCCATCGGCAGCGCCAGGGGACAGAGCACAGGA
AAGGGACCCCCACAGTCACCTGTGTTTGAAGGCGTCTACAACAATTCCAGAATGCTGCATTTCCTTACAGCTGTTGTGGGCTCCACTTGTGATGTAAAGGTGAAA
AATGGTACCACTTATGAGGGTATCTTCAAGACGCTAAGCTCAAAGTTTGAACTAGCCGTGGATGCTGTGCACCGGAAAGCATCTGAGCCAGCAGGTGGCCCTCGT
CGGGAGGACATTGTGGACACCATGGTGTTTAAGCCAAGTGATGTCATGCTTGTTCACTTCCGAAATGTTGACTTCAACTATGCTACTAAAGACAAGTTCACCGAT
TCAGCCATTGCCATGAACTCGAAAGTGAATGGGGAACACAAAGAGAAGGTGCTTCAGCGCTGGGAGGGGGGTGACAGCAACAGCGACGACTATGACCTCGAGTCT
GACATGTCCAATGGATGGGACCCCAATGAAATGTTCAAGTTCAATGAGGAGAACTACGGTGTGAAGACTACCTATGATAGCAGTCTTTCTTCTTATACGGTGCCC
TTAGAAAAGGACAACTCAGAAGAGTTTCGTCAGCGAGAGCTGCGTGCGGCCCAGTTGGCTCGAGAGATTGAATCAAGCCCCCAGTACCGCCTACGGATCGCCATG
GAGAACGACGATGGGCGCACTGAAGAGGAGAAGCACAGTGCAGTCCAGCGGCAGGGCTCAGGGCGGGAGAGCCCCAGCTTGGCATCCAGGGAGGGGAAGTATATC
CCTCTGCCTCAACGAGTCCGGGAAGGTCCCCGGGGAGGAGTTCGATGCAGCAGCTCTCGGGGCGGTCGGCCTGGCCTTAGCTCTTTGCCACCTCGTGGCCCTCAC
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ATGTTGAAGCCTCAGCCGCTACAACAGCCCTCCCAGCCCCAGCAGCCGCCCCCCACGCAACAGGCCGTGGCCCGTCGGCCCCCCGGGGGCACCAGCCCTCCCAAC
GGCGGCCTCCCGGGGCCGCTGGCCACCTCTGCGGCTCCTCCCGGGCCTCCAGCGGCCGCCTCCCCCTGCCTGGGGCCTGTGGCCGCTGCCGGGAGCGGGCTCCGC
CGGGGAGCCGAAGGCATCTTGGCGCCGCAGCCGCCGCCGCCGCAGCAACACCAGGAGAGGCCGGGGGCAGCCGCCATCGGCAGCGCCAGGGGACAGAGCACAGGA
AAGGGACCCCCACAGTCACCTGTGTTTGAAGGCGTCTACAACAATTCCAGAATGCTGCATTTCCTTACAGCTGTTGTGGGCTCCACTTGTGATGTAAAGGTGAAA
AATGGTACCACTTATGAGGGTATCTTCAAGACGCTAAGCTCAAAGTTTGAACTAGCCGTGGATGCTGTGCACCGGAAAGCATCTGAGCCAGCAGGTGGCCCTCGT
CGGGAGGACATTGTGGACACCATGGTGTTTAAGCCAAGTGATGTCATGCTTGTTCACTTCCGAAATGTTGACTTCAACTATGCTACTAAAGACAAGTTCACCGAT
TCAGCCATTGCCATGAACTCGAAAGTGAATGGGGAACACAAAGAGAAGGTGCTTCAGCGCTGGGAGGGGGGTGACAGCAACAGCGACGACTATGACCTCGAGTCT
GACATGTCCAATGGATGGGACCCCAATGAAATGTTCAAGTTCAATGAGGAGAACTACGGTGTGAAGACTACCTATGATAGCAGTCTTTCTTCTTATACGGTGCCC
TTAGAAAAGGACAACTCAGAAGAGTTTCGTCAGCGAGAGCTGCGTGCGGCCCAGTTGGCTCGAGAGATTGAATCAAGCCCCCAGTACCGCCTACGGATCGCCATG
GAGAACGACGATGGGCGCACTGAAGAGGAGAAGCACAGTGCAGTCCAGCGGCAGGGCTCAGGGCGGGAGAGCCCCAGCTTGGCATCCAGGGAGGGGAAGTATATC
CCTCTGCCTCAACGAGTCCGGGAAGGTCCCCGGGGAGGAGTTCGATGCAGCAGCTCTCGGGGCGGTCGGCCTGGCCTTAGCTCTTTGCCACCTCGTGGCCCTCAC
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>ATXN2L|11273|protein
MLKPQPLQQPSQPQQPPPTQQAVARRPPGGTSPPNGGLPGPLATSAAPPGPPAAASPCLGPVAAAGSGLRRGAEGILAPQPPPPQQHQERPGAAAIGSARGQSTG
KGPPQSPVFEGVYNNSRMLHFLTAVVGSTCDVKVKNGTTYEGIFKTLSSKFELAVDAVHRKASEPAGGPRREDIVDTMVFKPSDVMLVHFRNVDFNYATKDKFTD
SAIAMNSKVNGEHKEKVLQRWEGGDSNSDDYDLESDMSNGWDPNEMFKFNEENYGVKTTYDSSLSSYTVPLEKDNSEEFRQRELRAAQLAREIESSPQYRLRIAM
ENDDGRTEEEKHSAVQRQGSGRESPSLASREGKYIPLPQRVREGPRGGVRCSSSRGGRPGLSSLPPRGPHHLDNSSPGPGSEARGINGGPSRMSPKAQRPLRGAK
TLSSPSNRPSGETSVPPPPAVGRMYPPRSPKSAAPAPISASCPEPPIGSAVPTSSASIPVTSSVSDPGVGSISPASPKISLAPTDVKELSTKEPGRTLEPQELAR
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MLKPQPLQQPSQPQQPPPTQQAVARRPPGGTSPPNGGLPGPLATSAAPPGPPAAASPCLGPVAAAGSGLRRGAEGILAPQPPPPQQHQERPGAAAIGSARGQSTG
KGPPQSPVFEGVYNNSRMLHFLTAVVGSTCDVKVKNGTTYEGIFKTLSSKFELAVDAVHRKASEPAGGPRREDIVDTMVFKPSDVMLVHFRNVDFNYATKDKFTD
SAIAMNSKVNGEHKEKVLQRWEGGDSNSDDYDLESDMSNGWDPNEMFKFNEENYGVKTTYDSSLSSYTVPLEKDNSEEFRQRELRAAQLAREIESSPQYRLRIAM
ENDDGRTEEEKHSAVQRQGSGRESPSLASREGKYIPLPQRVREGPRGGVRCSSSRGGRPGLSSLPPRGPHHLDNSSPGPGSEARGINGGPSRMSPKAQRPLRGAK
TLSSPSNRPSGETSVPPPPAVGRMYPPRSPKSAAPAPISASCPEPPIGSAVPTSSASIPVTSSVSDPGVGSISPASPKISLAPTDVKELSTKEPGRTLEPQELAR
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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) | 2 (8) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (8) |
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 | ||||||
| Finelli, 2004 | - | FISH |  | | autistic feature | - | - | - | - | 2 | - | 2 |
| Weiss, 2008 | USA, Ireland | aCGH, SNP microarray |  | | ASD | 751 | - | - | - | 2252 | 23502 | 25754 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Gazzellone MJ, 2014 | China | - | | | - | - | - | - | - | 104 | 2108 | 2212 |
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
Linkage Studies Top