Evidence Details for C6orf132
Basic Information Top
Gene Symbol: | C6orf132 ( FLJ90086,bA7K24.2 ) |
---|---|
Gene Full Name: | chromosome 6 open reading frame 132 |
Band: | 6p21.1 |
Quick Links | Entrez ID:647024; OMIM: NA; Uniprot ID:CF132_HUMAN; ENSEMBL ID: ENSG00000188112; HGNC ID: 21288 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C6orf132|647024|nucleotide
ATGAAAAAGAAGCAGACGGTGCAGGGCACCTTCAGCAAACTCTTCGGGAAGAAGCACACCACGACCCCCAGCACCTCCCTCTACGCCACCAATCCGCCCTGGATC
TTCACCCAGGAGGCCCCGGAGGAGGGGACCGGGGGCTTCGATGGCATCTATTATGGAGACAATCGGTTTAACACAGTGAGCGAGTCAGGAACAGCCACGCTGAAA
GCTCGGCCAAGAGTCCGGCCCCTGCTGACCTTCCTTCCGCTGAATGCCCAGGAAAACCATGGGCTGGCTGTGCCCACCCCCTCGGTTCCAGATGATTTTGCAGAC
AAAGAAGTGACAGGTACCAGCTCACTAGTCAATGGCAACCTCCGACTGTACAGCTCTGTGGGTGACCTGAGGCCTGGACAATATGGCCAGGATCTACTCATCCCC
CCACCTCCCCCAGGCCCAGCCCCAGGGCCCCCTCAGGACATTTCAGAACCTCCAGGGGGGTCGCCACTGCCATCTCCACCTTCCACAGCACCCCCACCACCTCCC
CTGCTGCTGGAACCCCCACCCCCGCCCAGCATGGCCCCACCTCCACCCCCAGTATTGGAGGCCCTATCCCCACCACACACTCTTTCCTCCCCATCCATACCCACC
CCTCCTGACTTCATTCCCCCTGCCCCACCCTTGGCCTTTCTAGCCCCCCCACCGCCTCCTGTGCCAGCCCCAGCACCCCCAGCTCCAGCATCTCCTCACACAGTG
GGGACTCGTCTCTTTCCCCCTGGGGGTGTCACCAAGTGGAAATCAGATGTAGCACTGAATGGCAGGCAGGCAGAGGCCACCAGAGCCAGCCCCCCGAGAAGCCCT
GCTGAGCCAAAGGGGAGCGCCCTGGGACCTAACCCAGAGCCCCATCTCACCTTCCCCCGTTCTTTCAAAGTGCCTCCCCCAACCCCAGTCAGGACTTCGTCCATC
CCAGTTCAGGAAGCACAAGAGGCTCCCCGAAAGGAAGAGGGGGCCACCAAGAAGGCTCCCAGCCGACTCCCACTGCCTCCCAGCTTCCACATCCGCCCCGCCTCC
CAGGTCTACCCAGACAGGGCCCCCGAGCCAGACTGCCCTGGGGAGCTCAAGGCCACAGCACCAGCCAGCCCAAGGCTTGGCCAGTCCCAGTCCCAAGCAGATGAA
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ATGAAAAAGAAGCAGACGGTGCAGGGCACCTTCAGCAAACTCTTCGGGAAGAAGCACACCACGACCCCCAGCACCTCCCTCTACGCCACCAATCCGCCCTGGATC
TTCACCCAGGAGGCCCCGGAGGAGGGGACCGGGGGCTTCGATGGCATCTATTATGGAGACAATCGGTTTAACACAGTGAGCGAGTCAGGAACAGCCACGCTGAAA
GCTCGGCCAAGAGTCCGGCCCCTGCTGACCTTCCTTCCGCTGAATGCCCAGGAAAACCATGGGCTGGCTGTGCCCACCCCCTCGGTTCCAGATGATTTTGCAGAC
AAAGAAGTGACAGGTACCAGCTCACTAGTCAATGGCAACCTCCGACTGTACAGCTCTGTGGGTGACCTGAGGCCTGGACAATATGGCCAGGATCTACTCATCCCC
CCACCTCCCCCAGGCCCAGCCCCAGGGCCCCCTCAGGACATTTCAGAACCTCCAGGGGGGTCGCCACTGCCATCTCCACCTTCCACAGCACCCCCACCACCTCCC
CTGCTGCTGGAACCCCCACCCCCGCCCAGCATGGCCCCACCTCCACCCCCAGTATTGGAGGCCCTATCCCCACCACACACTCTTTCCTCCCCATCCATACCCACC
CCTCCTGACTTCATTCCCCCTGCCCCACCCTTGGCCTTTCTAGCCCCCCCACCGCCTCCTGTGCCAGCCCCAGCACCCCCAGCTCCAGCATCTCCTCACACAGTG
GGGACTCGTCTCTTTCCCCCTGGGGGTGTCACCAAGTGGAAATCAGATGTAGCACTGAATGGCAGGCAGGCAGAGGCCACCAGAGCCAGCCCCCCGAGAAGCCCT
GCTGAGCCAAAGGGGAGCGCCCTGGGACCTAACCCAGAGCCCCATCTCACCTTCCCCCGTTCTTTCAAAGTGCCTCCCCCAACCCCAGTCAGGACTTCGTCCATC
CCAGTTCAGGAAGCACAAGAGGCTCCCCGAAAGGAAGAGGGGGCCACCAAGAAGGCTCCCAGCCGACTCCCACTGCCTCCCAGCTTCCACATCCGCCCCGCCTCC
CAGGTCTACCCAGACAGGGCCCCCGAGCCAGACTGCCCTGGGGAGCTCAAGGCCACAGCACCAGCCAGCCCAAGGCTTGGCCAGTCCCAGTCCCAAGCAGATGAA
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>C6orf132|647024|protein
MKKKQTVQGTFSKLFGKKHTTTPSTSLYATNPPWIFTQEAPEEGTGGFDGIYYGDNRFNTVSESGTATLKARPRVRPLLTFLPLNAQENHGLAVPTPSVPDDFAD
KEVTGTSSLVNGNLRLYSSVGDLRPGQYGQDLLIPPPPPGPAPGPPQDISEPPGGSPLPSPPSTAPPPPPLLLEPPPPPSMAPPPPPVLEALSPPHTLSSPSIPT
PPDFIPPAPPLAFLAPPPPPVPAPAPPAPASPHTVGTRLFPPGGVTKWKSDVALNGRQAEATRASPPRSPAEPKGSALGPNPEPHLTFPRSFKVPPPTPVRTSSI
PVQEAQEAPRKEEGATKKAPSRLPLPPSFHIRPASQVYPDRAPEPDCPGELKATAPASPRLGQSQSQADERAGTPPPAPPLPPPAPPLPPPAPPLPPAAPPLPCA
QKAAHPPAGFTKTPKSSSPALKPKPNPPSPENTASSAPVDWRDPSQMEKLRNELAAYLCGSRREDRFLSHRPGPTVAPQSKEGKKGPRLPEKETLLSLPAKDTPP
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MKKKQTVQGTFSKLFGKKHTTTPSTSLYATNPPWIFTQEAPEEGTGGFDGIYYGDNRFNTVSESGTATLKARPRVRPLLTFLPLNAQENHGLAVPTPSVPDDFAD
KEVTGTSSLVNGNLRLYSSVGDLRPGQYGQDLLIPPPPPGPAPGPPQDISEPPGGSPLPSPPSTAPPPPPLLLEPPPPPSMAPPPPPVLEALSPPHTLSSPSIPT
PPDFIPPAPPLAFLAPPPPPVPAPAPPAPASPHTVGTRLFPPGGVTKWKSDVALNGRQAEATRASPPRSPAEPKGSALGPNPEPHLTFPRSFKVPPPTPVRTSSI
PVQEAQEAPRKEEGATKKAPSRLPLPPSFHIRPASQVYPDRAPEPDCPGELKATAPASPRLGQSQSQADERAGTPPPAPPLPPPAPPLPPPAPPLPPAAPPLPCA
QKAAHPPAGFTKTPKSSSPALKPKPNPPSPENTASSAPVDWRDPSQMEKLRNELAAYLCGSRREDRFLSHRPGPTVAPQSKEGKKGPRLPEKETLLSLPAKDTPP
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 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 |
---|---|---|---|---|
Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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