Evidence Details for C6orf136
Basic Information Top
Gene Symbol: | C6orf136 ( MGC15854 ) |
---|---|
Gene Full Name: | chromosome 6 open reading frame 136 |
Band: | 6p21.33 |
Quick Links | Entrez ID:221545; OMIM: NA; Uniprot ID:CF136_HUMAN; ENSEMBL ID: ENSG00000204564; HGNC ID: 21301 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C6orf136|221545|nucleotide
ATGTACCAGCCCAGCCGGGGTGCGGCCCGGCGTCTCGGCCCTTGCCTGCGCGCCTACCAGGCTCGACCCCAGGACCAGCTTTATCCAGGGACTCTACCATTCCCA
CCCCTTTGGCCCCACTCCACGACAACCACTTCCCCATCTTCTCCTCTATTCTGGTCTCCCCTGCCCCCACGCCTTCCCACCCAGCGTCTTCCCCAGGTTCCCCCA
CTACCTCTCCCTCAGATCCAGGCCCTCAGCTCAGCATGGGTGGTTCTCCCTCCAGGAAAGGGGGAGGAGGGACCAGGACCTGAGTTGCATAGCGGCTGCCTGGAT
GGGCTTAGAAGCCTTTTTGAGGGACCTCCCTGCCCCTATCCTGGGGCTTGGATACCTTTCCAAGTCCCTGGAACTGCCCACCCTTCCCCTGCCACCCCGTCAGGA
GATCCTAGTATGGAGGAACATCTGTCTGTCATGTATGAGAGACTGAGACAAGAGCTTCCCAAGCTCTTCCTTCAGTCCCACGACTACAGTCTGTATTCCTTGGAT
GTGGAATTCATCAATGAGATCCTCAACATACGTACCAAGGGCCGGACATGGTACATTCTTTCACTGACCCTCTGCCGTTTCCTGGCCTGGAATTATTTTGCACAC
CTTCGTTTGGAGGTTTTACAGCTGACCCGCCACCCTGAGAACTGGACCCTGCAAGCCCGGTGGCGGCTTGTGGGGCTGCCCGTCCACTTGCTCTTTTTGCGGTTC
TACAAGCGTGACAAAGACGAGCATTACCGGACCTATGATGCCTACTCCACTTTCTACCTGAATTCCAGTGGCCTCATTTGTCGCCATCGTCTAGATAAACTGATG
CCTTCACACTCACCTCCAACGCCTGTGAAGAAGCTGCTAGTGGGAGCCCTGGTGGCCCTGGGGCTGTCAGAGCCAGAACCTGACTTAAACCTGTGTTCCAAGCCC
TGA
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ATGTACCAGCCCAGCCGGGGTGCGGCCCGGCGTCTCGGCCCTTGCCTGCGCGCCTACCAGGCTCGACCCCAGGACCAGCTTTATCCAGGGACTCTACCATTCCCA
CCCCTTTGGCCCCACTCCACGACAACCACTTCCCCATCTTCTCCTCTATTCTGGTCTCCCCTGCCCCCACGCCTTCCCACCCAGCGTCTTCCCCAGGTTCCCCCA
CTACCTCTCCCTCAGATCCAGGCCCTCAGCTCAGCATGGGTGGTTCTCCCTCCAGGAAAGGGGGAGGAGGGACCAGGACCTGAGTTGCATAGCGGCTGCCTGGAT
GGGCTTAGAAGCCTTTTTGAGGGACCTCCCTGCCCCTATCCTGGGGCTTGGATACCTTTCCAAGTCCCTGGAACTGCCCACCCTTCCCCTGCCACCCCGTCAGGA
GATCCTAGTATGGAGGAACATCTGTCTGTCATGTATGAGAGACTGAGACAAGAGCTTCCCAAGCTCTTCCTTCAGTCCCACGACTACAGTCTGTATTCCTTGGAT
GTGGAATTCATCAATGAGATCCTCAACATACGTACCAAGGGCCGGACATGGTACATTCTTTCACTGACCCTCTGCCGTTTCCTGGCCTGGAATTATTTTGCACAC
CTTCGTTTGGAGGTTTTACAGCTGACCCGCCACCCTGAGAACTGGACCCTGCAAGCCCGGTGGCGGCTTGTGGGGCTGCCCGTCCACTTGCTCTTTTTGCGGTTC
TACAAGCGTGACAAAGACGAGCATTACCGGACCTATGATGCCTACTCCACTTTCTACCTGAATTCCAGTGGCCTCATTTGTCGCCATCGTCTAGATAAACTGATG
CCTTCACACTCACCTCCAACGCCTGTGAAGAAGCTGCTAGTGGGAGCCCTGGTGGCCCTGGGGCTGTCAGAGCCAGAACCTGACTTAAACCTGTGTTCCAAGCCC
TGA
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>C6orf136|221545|protein
MYQPSRGAARRLGPCLRAYQARPQDQLYPGTLPFPPLWPHSTTTTSPSSPLFWSPLPPRLPTQRLPQVPPLPLPQIQALSSAWVVLPPGKGEEGPGPELHSGCLD
GLRSLFEGPPCPYPGAWIPFQVPGTAHPSPATPSGDPSMEEHLSVMYERLRQELPKLFLQSHDYSLYSLDVEFINEILNIRTKGRTWYILSLTLCRFLAWNYFAH
LRLEVLQLTRHPENWTLQARWRLVGLPVHLLFLRFYKRDKDEHYRTYDAYSTFYLNSSGLICRHRLDKLMPSHSPPTPVKKLLVGALVALGLSEPEPDLNLCSKP
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MYQPSRGAARRLGPCLRAYQARPQDQLYPGTLPFPPLWPHSTTTTSPSSPLFWSPLPPRLPTQRLPQVPPLPLPQIQALSSAWVVLPPGKGEEGPGPELHSGCLD
GLRSLFEGPPCPYPGAWIPFQVPGTAHPSPATPSGDPSMEEHLSVMYERLRQELPKLFLQSHDYSLYSLDVEFINEILNIRTKGRTWYILSLTLCRFLAWNYFAH
LRLEVLQLTRHPENWTLQARWRLVGLPVHLLFLRFYKRDKDEHYRTYDAYSTFYLNSSGLICRHRLDKLMPSHSPPTPVKKLLVGALVALGLSEPEPDLNLCSKP
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
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 | ||||||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 |
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 |
---|---|---|---|---|
Chen R, 2017 | 107 | 116 | 128 | Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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