Evidence Details for C17orf66
Basic Information Top
| Gene Symbol: | C17orf66 ( FLJ32830 ) |
|---|---|
| Gene Full Name: | chromosome 17 open reading frame 66 |
| Band: | 17q12 |
| Quick Links | Entrez ID:256957; OMIM: NA; Uniprot ID:CQ066_HUMAN; ENSEMBL ID: ENSG00000172653; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C17orf66|256957|nucleotide
ATGGCCTATGAAAAATCAACTGATATCTCTGATGTCTCCAGGTCAATGTTCCTGTACCCATGGCTGGAATATCCAGACAAGACCAAAGAACTCAGAAAAGCCATG
GCTCCTGTTCATCTGCCCTTGTCCTGCTACCAGATGCCAAAGGAAGAGTTTCCCCCAAGTCCAGAGTGCTGGAGGCAGCATCCGAGCAAGCCAAACTCAGTCCCG
TACTGCTACTTCAAGAAACCTGAGATCTACACGCACTGGCACGACCTGTATGATCAGCGAGAGGAAAGGGAGGCTGAGAAGATGTTGAGGAAAATGAGAGATGAC
TGTAGGTACATCAAAGAGGTACATCAAACCCACATCAAAATGTTCCATCTCCCAATGAGCAAGCTGACTATAAAATCTGAGATGCGATCCAGGCCCTTAGAGCCT
ACCCAGGACCCCCTGAAGTGGCAAAGATTAAGGGAACTCACAAAAAGCCTGGAATCTCCCAGAGAGGATGAGCAGTTCTATGCAGCACAGGCTCTGGGATGCTTA
CGCATCAGTGACAAGTTTGTCATGGAGGCACTACAGCAGGTGGCCCAAACTGGTCCAGAGAAAGTGAAGTACGAGGCCTACCGAACCCTGGCCATCCTGGGTTGC
CTGAATAAGCATGTGATCCGGGCTCTCATCAAACAGCTGAAGGAGAAAAATGAGGGTCAAAGGATGGAGACTTTGACGGGGCTACGAATGGCTCTTAACTCCTGG
GCTGCTGTCTCTAAAGACAAGAGGACTCAAGTCGGGGATGAGGGCAAGCTGGTGCCTGTACTACAGACACTGATCAAGAAGTCGTCCAGTGAAGCATCTCTGGAG
GCAGCCCTGTGCCTGGGTTTCCTGAGGCCTTGCAGCAACATGGTCCAAGAGTTCTTGTTGCAGTGCCTGTGCCAAGGACTCAAGACCCAGCGGATGAAGGCACTT
AGGATGCTGGTCAAGGTGATGCACGTGCACTCAGCCCCAGTCATCAAGGCCATCCTAGACCAGCTGTGTTCTTCCAGTGTCCTTGAGGACCGCTTTGAAGCCACC
CAAATGCTCAAGACCATTGGGCTGGAACAGATCCAGGCACAGGGGCTAGAGGAACTCACATTTAACCTGCTCAGGAGGAAGACGCATAATGAACCCTTCCTTGCT
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ATGGCCTATGAAAAATCAACTGATATCTCTGATGTCTCCAGGTCAATGTTCCTGTACCCATGGCTGGAATATCCAGACAAGACCAAAGAACTCAGAAAAGCCATG
GCTCCTGTTCATCTGCCCTTGTCCTGCTACCAGATGCCAAAGGAAGAGTTTCCCCCAAGTCCAGAGTGCTGGAGGCAGCATCCGAGCAAGCCAAACTCAGTCCCG
TACTGCTACTTCAAGAAACCTGAGATCTACACGCACTGGCACGACCTGTATGATCAGCGAGAGGAAAGGGAGGCTGAGAAGATGTTGAGGAAAATGAGAGATGAC
TGTAGGTACATCAAAGAGGTACATCAAACCCACATCAAAATGTTCCATCTCCCAATGAGCAAGCTGACTATAAAATCTGAGATGCGATCCAGGCCCTTAGAGCCT
ACCCAGGACCCCCTGAAGTGGCAAAGATTAAGGGAACTCACAAAAAGCCTGGAATCTCCCAGAGAGGATGAGCAGTTCTATGCAGCACAGGCTCTGGGATGCTTA
CGCATCAGTGACAAGTTTGTCATGGAGGCACTACAGCAGGTGGCCCAAACTGGTCCAGAGAAAGTGAAGTACGAGGCCTACCGAACCCTGGCCATCCTGGGTTGC
CTGAATAAGCATGTGATCCGGGCTCTCATCAAACAGCTGAAGGAGAAAAATGAGGGTCAAAGGATGGAGACTTTGACGGGGCTACGAATGGCTCTTAACTCCTGG
GCTGCTGTCTCTAAAGACAAGAGGACTCAAGTCGGGGATGAGGGCAAGCTGGTGCCTGTACTACAGACACTGATCAAGAAGTCGTCCAGTGAAGCATCTCTGGAG
GCAGCCCTGTGCCTGGGTTTCCTGAGGCCTTGCAGCAACATGGTCCAAGAGTTCTTGTTGCAGTGCCTGTGCCAAGGACTCAAGACCCAGCGGATGAAGGCACTT
AGGATGCTGGTCAAGGTGATGCACGTGCACTCAGCCCCAGTCATCAAGGCCATCCTAGACCAGCTGTGTTCTTCCAGTGTCCTTGAGGACCGCTTTGAAGCCACC
CAAATGCTCAAGACCATTGGGCTGGAACAGATCCAGGCACAGGGGCTAGAGGAACTCACATTTAACCTGCTCAGGAGGAAGACGCATAATGAACCCTTCCTTGCT
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>C17orf66|256957|protein
MAYEKSTDISDVSRSMFLYPWLEYPDKTKELRKAMAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDD
CRYIKEVHQTHIKMFHLPMSKLTIKSEMRSRPLEPTQDPLKWQRLRELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVAQTGPEKVKYEAYRTLAILGC
LNKHVIRALIKQLKEKNEGQRMETLTGLRMALNSWAAVSKDKRTQVGDEGKLVPVLQTLIKKSSSEASLEAALCLGFLRPCSNMVQEFLLQCLCQGLKTQRMKAL
RMLVKVMHVHSAPVIKAILDQLCSSSVLEDRFEATQMLKTIGLEQIQAQGLEELTFNLLRRKTHNEPFLAVRQAVAQTVEELKLKPTMMNLVEAQLMNPDATARQ
EAVISLGVLGIRSPQVFHLLLDLLDAENHQAVKKSLQETLILCASIDPWIQNKLKNKVLSVYEAPKTNVKAEPTRFQKEPENPEELTIQDFRLAKLNPLFIAKSI
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MAYEKSTDISDVSRSMFLYPWLEYPDKTKELRKAMAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDD
CRYIKEVHQTHIKMFHLPMSKLTIKSEMRSRPLEPTQDPLKWQRLRELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVAQTGPEKVKYEAYRTLAILGC
LNKHVIRALIKQLKEKNEGQRMETLTGLRMALNSWAAVSKDKRTQVGDEGKLVPVLQTLIKKSSSEASLEAALCLGFLRPCSNMVQEFLLQCLCQGLKTQRMKAL
RMLVKVMHVHSAPVIKAILDQLCSSSVLEDRFEATQMLKTIGLEQIQAQGLEELTFNLLRRKTHNEPFLAVRQAVAQTVEELKLKPTMMNLVEAQLMNPDATARQ
EAVISLGVLGIRSPQVFHLLLDLLDAENHQAVKKSLQETLILCASIDPWIQNKLKNKVLSVYEAPKTNVKAEPTRFQKEPENPEELTIQDFRLAKLNPLFIAKSI
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (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 | ||||||
| Gregory, 2009 | USA | aCGH | ![]() | ![]() | ASD | - | - | - | - | 119 | 54 | 173 |
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
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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