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 Top
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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV 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 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | ASD | 751 | - | - | - | 2252 | 23502 | 25754 | ||
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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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