Evidence Details for SMCR8
Basic Information Top
| Gene Symbol: | SMCR8 ( FLJ34716,FLJ60657 ) |
|---|---|
| Gene Full Name: | Smith-Magenis syndrome chromosome region, candidate 8 |
| Band: | 17p11.2 |
| Quick Links | Entrez ID:140775; OMIM: NA; Uniprot ID:SMCR8_HUMAN; ENSEMBL ID: ENSG00000176994; HGNC ID: 17921 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SMCR8|140775|nucleotide
ATGATCAGCGCCCCTGACGTAGTGGCCTTCACCAAAGAGGAAGAGTATGAAGAAGAGCCTTACAATGAGCCGGCCCTGCCTGAGGAGTACTCGGTGCCGCTCTTC
CCCTTCGCCAGTCAGGGTGCTAACCCCTGGTCAAAACTGTCCGGGGCCAAGTTTTCGAGGGACTTCATTCTTATTTCCGAGTTCTCTGAGCAGGTGGGACCCCAA
CCCTTACTGACCATCCCCAATGACACCAAAGTTTTTGGCACTTTTGATCTCAATTACTTCTCCCTGCGTATCATGTCTGTGGATTACCAGGCTTCCTTCGTGGGC
CATCCTCCTGGATCTGCCTACCCCAAGCTGAACTTCGTGGAGGACTCCAAGGTGGTGCTGGGAGATTCTAAGGAGGGCGCCTTTGCATACGTGCACCACCTTACC
CTATACGACCTGGAGGCCCGTGGCTTCGTGAGGCCGTTTTGCATGGCTTATATCTCTGCAGACCAGCATAAAATCATGCAGCAGTTCCAGGAGCTTTCAGCCGAA
TTTTCCAGAGCTTCTGAGTGCTTGAAGACTGGCAACAGGAAGGCATTTGCTGGGGAACTTGAAAAAAAGCTGAAAGACTTGGATTACACCAGGACAGTGCTACAC
ACAGAAACGGAGATCCAGAAGAAAGCCAACGACAAAGGCTTTTACTCATCTCAGGCAATTGAGAAAGCCAATGAACTGGCCAGTGTGGAGAAGTCCATCATTGAA
CATCAAGACCTGCTGAAGCAGATCCGCTCATACCCTCATCGGAAGTTGAAGGGGCATGATTTGTGTCCTGGTGAGATGGAGCACATCCAGGATCAGGCCAGCCAG
GCATCCACTACCTCTAACCCTGATGAGTCTGCCGACACAGACCTTTACACCTGCAGACCAGCCTACACCCCAAAACTTATCAAAGCAAAGTCCACCAAGTGTTTT
GACAAGAAGTTGAAGACCTTGGAGGAGCTCTGTGACACTGAATATTTCACCCAGACCCTGGCTCAGCTCAGCCACATTGAACACATGTTCAGAGGAGACCTGTGT
TACCTCCTGACCAGTCAGATTGATAGAGCACTTCTAAAACAACAGCATATAACAAACTTTCTCTTTGAAGACTTTGTGGAGGTCGATGACAGGATGGTGGAGAAA
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ATGATCAGCGCCCCTGACGTAGTGGCCTTCACCAAAGAGGAAGAGTATGAAGAAGAGCCTTACAATGAGCCGGCCCTGCCTGAGGAGTACTCGGTGCCGCTCTTC
CCCTTCGCCAGTCAGGGTGCTAACCCCTGGTCAAAACTGTCCGGGGCCAAGTTTTCGAGGGACTTCATTCTTATTTCCGAGTTCTCTGAGCAGGTGGGACCCCAA
CCCTTACTGACCATCCCCAATGACACCAAAGTTTTTGGCACTTTTGATCTCAATTACTTCTCCCTGCGTATCATGTCTGTGGATTACCAGGCTTCCTTCGTGGGC
CATCCTCCTGGATCTGCCTACCCCAAGCTGAACTTCGTGGAGGACTCCAAGGTGGTGCTGGGAGATTCTAAGGAGGGCGCCTTTGCATACGTGCACCACCTTACC
CTATACGACCTGGAGGCCCGTGGCTTCGTGAGGCCGTTTTGCATGGCTTATATCTCTGCAGACCAGCATAAAATCATGCAGCAGTTCCAGGAGCTTTCAGCCGAA
TTTTCCAGAGCTTCTGAGTGCTTGAAGACTGGCAACAGGAAGGCATTTGCTGGGGAACTTGAAAAAAAGCTGAAAGACTTGGATTACACCAGGACAGTGCTACAC
ACAGAAACGGAGATCCAGAAGAAAGCCAACGACAAAGGCTTTTACTCATCTCAGGCAATTGAGAAAGCCAATGAACTGGCCAGTGTGGAGAAGTCCATCATTGAA
CATCAAGACCTGCTGAAGCAGATCCGCTCATACCCTCATCGGAAGTTGAAGGGGCATGATTTGTGTCCTGGTGAGATGGAGCACATCCAGGATCAGGCCAGCCAG
GCATCCACTACCTCTAACCCTGATGAGTCTGCCGACACAGACCTTTACACCTGCAGACCAGCCTACACCCCAAAACTTATCAAAGCAAAGTCCACCAAGTGTTTT
GACAAGAAGTTGAAGACCTTGGAGGAGCTCTGTGACACTGAATATTTCACCCAGACCCTGGCTCAGCTCAGCCACATTGAACACATGTTCAGAGGAGACCTGTGT
TACCTCCTGACCAGTCAGATTGATAGAGCACTTCTAAAACAACAGCATATAACAAACTTTCTCTTTGAAGACTTTGTGGAGGTCGATGACAGGATGGTGGAGAAA
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>SMCR8|140775|protein
MISAPDVVAFTKEEEYEEEPYNEPALPEEYSVPLFPFASQGANPWSKLSGAKFSRDFILISEFSEQVGPQPLLTIPNDTKVFGTFDLNYFSLRIMSVDYQASFVG
HPPGSAYPKLNFVEDSKVVLGDSKEGAFAYVHHLTLYDLEARGFVRPFCMAYISADQHKIMQQFQELSAEFSRASECLKTGNRKAFAGELEKKLKDLDYTRTVLH
TETEIQKKANDKGFYSSQAIEKANELASVEKSIIEHQDLLKQIRSYPHRKLKGHDLCPGEMEHIQDQASQASTTSNPDESADTDLYTCRPAYTPKLIKAKSTKCF
DKKLKTLEELCDTEYFTQTLAQLSHIEHMFRGDLCYLLTSQIDRALLKQQHITNFLFEDFVEVDDRMVEKQESIPSKPSQDRPPSSSLEECPIPKVLISVGSYKS
SVESVLIKMEQELGDEEYKEVEVTELSSFDPQENLDYLDMDMKGSISSGESIEVLGTEKSTSVLSKSDSQASLTVPLSPQVVRSKAVSHRTISEDSIEVLSTCPS
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MISAPDVVAFTKEEEYEEEPYNEPALPEEYSVPLFPFASQGANPWSKLSGAKFSRDFILISEFSEQVGPQPLLTIPNDTKVFGTFDLNYFSLRIMSVDYQASFVG
HPPGSAYPKLNFVEDSKVVLGDSKEGAFAYVHHLTLYDLEARGFVRPFCMAYISADQHKIMQQFQELSAEFSRASECLKTGNRKAFAGELEKKLKDLDYTRTVLH
TETEIQKKANDKGFYSSQAIEKANELASVEKSIIEHQDLLKQIRSYPHRKLKGHDLCPGEMEHIQDQASQASTTSNPDESADTDLYTCRPAYTPKLIKAKSTKCF
DKKLKTLEELCDTEYFTQTLAQLSHIEHMFRGDLCYLLTSQIDRALLKQQHITNFLFEDFVEVDDRMVEKQESIPSKPSQDRPPSSSLEECPIPKVLISVGSYKS
SVESVLIKMEQELGDEEYKEVEVTELSSFDPQENLDYLDMDMKGSISSGESIEVLGTEKSTSVLSKSDSQASLTVPLSPQVVRSKAVSHRTISEDSIEVLSTCPS
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Evidence summary TopClick 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) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Potocki, 2007 | - | aCGH |  | | autism | - | - | - | - | 1 | - | 1 |
| Nakamine, 2008 | Costa Rica | SNP microarray | | | autsim | - | - | - | - | 1 | - | 1 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top