Evidence Details for COL9A2
Basic Information Top
Gene Symbol: | COL9A2 ( DJ39G22.4,EDM2,MED ) |
---|---|
Gene Full Name: | collagen, type IX, alpha 2 |
Band: | 1p34.2 |
Quick Links | Entrez ID:1298; OMIM: 120260; Uniprot ID:CO9A2_HUMAN; ENSEMBL ID: ENSG00000049089; HGNC ID: 2218 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>COL9A2|1298|nucleotide
ATGGCCGCCGCTACGGCCTCCCCCCGCAGCCTCCTTGTTCTCCTCCAGGTGGTAGTGCTCGCTCTGGCGCAGATTAGAGGTCCACCGGGAGAGCGGGGCCCCCCG
GGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGACGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAA
GCTGGGCCAGATGGGCCAGACGGGAAGCCCGGGATTGATGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGGCCAGCCCGGG
CTTCCTGGTCCTCCTGGCCTTCCGGGCCCTGGTTTTGCTGGACCTCCTGGGCCTCCTGGACCTGTTGGCCTCCCTGGTGAGATTGGAATCCGAGGCCCCAAGGGG
GACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCCTGTGTCCA
ACCAACTGTCCACCCGGAATGAAAGGTCCCCCAGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTGATCCTGGCCACCAGGGGAAGCCG
GGTCCCAAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAG
ACGGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAGGGT
GACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCT
GGCATGAAGGGCAGTGCAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGAC
CAGGGTGAGCCGGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGA
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ATGGCCGCCGCTACGGCCTCCCCCCGCAGCCTCCTTGTTCTCCTCCAGGTGGTAGTGCTCGCTCTGGCGCAGATTAGAGGTCCACCGGGAGAGCGGGGCCCCCCG
GGTCCCCCGGGACCGCCGGGAGTGCCTGGATCCGACGGCATCGACGGTGACAATGGGCCCCCTGGAAAAGCTGGCCCTCCGGGACCCAAGGGCGAGCCTGGCAAA
GCTGGGCCAGATGGGCCAGACGGGAAGCCCGGGATTGATGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGGCCAGCCCGGG
CTTCCTGGTCCTCCTGGCCTTCCGGGCCCTGGTTTTGCTGGACCTCCTGGGCCTCCTGGACCTGTTGGCCTCCCTGGTGAGATTGGAATCCGAGGCCCCAAGGGG
GACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCCTGTGTCCA
ACCAACTGTCCACCCGGAATGAAAGGTCCCCCAGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTGATCCTGGCCACCAGGGGAAGCCG
GGTCCCAAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAG
ACGGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAGGGT
GACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCT
GGCATGAAGGGCAGTGCAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGAC
CAGGGTGAGCCGGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGA
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>COL9A2|1298|protein
MAAATASPRSLLVLLQVVVLALAQIRGPPGERGPPGPPGPPGVPGSDGIDGDNGPPGKAGPPGPKGEPGKAGPDGPDGKPGIDGLTGAKGEPGPMGIPGVKGQPG
LPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGHAGKRGILGDPGHQGKP
GPKGDVGASGEQGIPGPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGITGPKGATGPPGINGKDGTPGTP
GMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLPGFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERGPVGQPGPQGRQGPKGEQGPPGIPGPQ
GLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQGYPGPPGPRGLAGNRGVPGQPGRQGVEGRDATDQHI
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MAAATASPRSLLVLLQVVVLALAQIRGPPGERGPPGPPGPPGVPGSDGIDGDNGPPGKAGPPGPKGEPGKAGPDGPDGKPGIDGLTGAKGEPGPMGIPGVKGQPG
LPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGHAGKRGILGDPGHQGKP
GPKGDVGASGEQGIPGPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGITGPKGATGPPGINGKDGTPGTP
GMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLPGFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERGPVGQPGPQGRQGPKGEQGPPGIPGPQ
GLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQGYPGPPGPRGLAGNRGVPGQPGRQGVEGRDATDQHI
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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 |
---|---|---|---|---|
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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