Evidence Details for RGMA
Basic Information Top
Gene Symbol: | RGMA ( RGM ) |
---|---|
Gene Full Name: | RGM domain family, member A |
Band: | 15q26.1 |
Quick Links | Entrez ID:56963; OMIM: 607362; Uniprot ID:RGMA_HUMAN; ENSEMBL ID: ENSG00000182175; HGNC ID: 30308 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>RGMA|56963|nucleotide
ATGGGTGGCCTGGGGCCACGACGGGCGGGAACCTCGAGGGAGAGGCTAGTGGTAACAGGCCGAGCTGGATGGATGGGTATGGGGAGAGGGGCAGGACGTTCAGCC
CTGGGATTCTGGCCGACCCTCGCCTTCCTTCTCTGCAGCTTCCCCGCAGCCACCTCCCCGTGCAAGATCCTCAAGTGCAACTCTGAGTTCTGGAGCGCCACGTCG
GGCAGCCACGCCCCAGCCTCAGACGACACCCCCGAGTTCTGTGCAGCCTTGCGCAGCTACGCCCTGTGCACGCGGCGGACGGCCCGCACCTGCCGGGGTGACCTG
GCCTACCACTCGGCCGTCCATGGCATAGAGGACCTCATGAGCCAGCACAACTGCTCCAAGGATGGCCCCACCTCGCAGCCACGCCTGCGCACGCTCCCACCGGCC
GGAGACAGCCAGGAGCGCTCGGACAGCCCCGAGATCTGCCATTACGAGAAGAGCTTTCACAAGCACTCGGCCACCCCCAACTACACGCACTGTGGCCTCTTCGGG
GACCCACACCTCAGGACTTTCACCGACCGCTTCCAGACCTGCAAGGTGCAGGGCGCCTGGCCGCTCATCGACAATAATTACCTGAACGTGCAGGTCACCAACACG
CCTGTGCTGCCCGGCTCAGCGGCCACTGCCACCAGCAAGCTCACCATCATCTTCAAGAACTTCCAGGAGTGTGTGGACCAGAAGGTGTACCAGGCTGAGATGGAC
GAGCTCCCGGCCGCCTTCGTGGATGGCTCTAAGAACGGTGGGGACAAGCACGGGGCCAACAGCCTGAAGATCACTGAGAAGGTGTCAGGCCAGCACGTGGAGATC
CAGGCCAAGTACATCGGCACCACCATCGTGGTGCGCCAGGTGGGCCGCTACCTGACCTTTGCCGTCCGCATGCCAGAGGAAGTGGTCAATGCTGTGGAGGACTGG
GACAGCCAGGGTCTCTACCTCTGCCTGCGGGGCTGCCCCCTCAACCAGCAGATCGACTTCCAGGCCTTCCACACCAATGCTGAGGGCACCGGTGCCCGCAGGCTG
GCAGCCGCCAGCCCTGCACCCACAGCCCCCGAGACCTTCCCATACGAGACAGCCGTGGCCAAGTGCAAGGAGAAGCTGCCGGTGGAGGACCTGTACTACCAGGCC
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ATGGGTGGCCTGGGGCCACGACGGGCGGGAACCTCGAGGGAGAGGCTAGTGGTAACAGGCCGAGCTGGATGGATGGGTATGGGGAGAGGGGCAGGACGTTCAGCC
CTGGGATTCTGGCCGACCCTCGCCTTCCTTCTCTGCAGCTTCCCCGCAGCCACCTCCCCGTGCAAGATCCTCAAGTGCAACTCTGAGTTCTGGAGCGCCACGTCG
GGCAGCCACGCCCCAGCCTCAGACGACACCCCCGAGTTCTGTGCAGCCTTGCGCAGCTACGCCCTGTGCACGCGGCGGACGGCCCGCACCTGCCGGGGTGACCTG
GCCTACCACTCGGCCGTCCATGGCATAGAGGACCTCATGAGCCAGCACAACTGCTCCAAGGATGGCCCCACCTCGCAGCCACGCCTGCGCACGCTCCCACCGGCC
GGAGACAGCCAGGAGCGCTCGGACAGCCCCGAGATCTGCCATTACGAGAAGAGCTTTCACAAGCACTCGGCCACCCCCAACTACACGCACTGTGGCCTCTTCGGG
GACCCACACCTCAGGACTTTCACCGACCGCTTCCAGACCTGCAAGGTGCAGGGCGCCTGGCCGCTCATCGACAATAATTACCTGAACGTGCAGGTCACCAACACG
CCTGTGCTGCCCGGCTCAGCGGCCACTGCCACCAGCAAGCTCACCATCATCTTCAAGAACTTCCAGGAGTGTGTGGACCAGAAGGTGTACCAGGCTGAGATGGAC
GAGCTCCCGGCCGCCTTCGTGGATGGCTCTAAGAACGGTGGGGACAAGCACGGGGCCAACAGCCTGAAGATCACTGAGAAGGTGTCAGGCCAGCACGTGGAGATC
CAGGCCAAGTACATCGGCACCACCATCGTGGTGCGCCAGGTGGGCCGCTACCTGACCTTTGCCGTCCGCATGCCAGAGGAAGTGGTCAATGCTGTGGAGGACTGG
GACAGCCAGGGTCTCTACCTCTGCCTGCGGGGCTGCCCCCTCAACCAGCAGATCGACTTCCAGGCCTTCCACACCAATGCTGAGGGCACCGGTGCCCGCAGGCTG
GCAGCCGCCAGCCCTGCACCCACAGCCCCCGAGACCTTCCCATACGAGACAGCCGTGGCCAAGTGCAAGGAGAAGCTGCCGGTGGAGGACCTGTACTACCAGGCC
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>RGMA|56963|protein
MGGLGPRRAGTSRERLVVTGRAGWMGMGRGAGRSALGFWPTLAFLLCSFPAATSPCKILKCNSEFWSATSGSHAPASDDTPEFCAALRSYALCTRRTARTCRGDL
AYHSAVHGIEDLMSQHNCSKDGPTSQPRLRTLPPAGDSQERSDSPEICHYEKSFHKHSATPNYTHCGLFGDPHLRTFTDRFQTCKVQGAWPLIDNNYLNVQVTNT
PVLPGSAATATSKLTIIFKNFQECVDQKVYQAEMDELPAAFVDGSKNGGDKHGANSLKITEKVSGQHVEIQAKYIGTTIVVRQVGRYLTFAVRMPEEVVNAVEDW
DSQGLYLCLRGCPLNQQIDFQAFHTNAEGTGARRLAAASPAPTAPETFPYETAVAKCKEKLPVEDLYYQACVFDLLTTGDVNFTLAAYYALEDVKMLHSNKDKLH
LYERTRDLPGRAAAGLPLAPRPLLGALVPLLALLPVFC
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MGGLGPRRAGTSRERLVVTGRAGWMGMGRGAGRSALGFWPTLAFLLCSFPAATSPCKILKCNSEFWSATSGSHAPASDDTPEFCAALRSYALCTRRTARTCRGDL
AYHSAVHGIEDLMSQHNCSKDGPTSQPRLRTLPPAGDSQERSDSPEICHYEKSFHKHSATPNYTHCGLFGDPHLRTFTDRFQTCKVQGAWPLIDNNYLNVQVTNT
PVLPGSAATATSKLTIIFKNFQECVDQKVYQAEMDELPAAFVDGSKNGGDKHGANSLKITEKVSGQHVEIQAKYIGTTIVVRQVGRYLTFAVRMPEEVVNAVEDW
DSQGLYLCLRGCPLNQQIDFQAFHTNAEGTGARRLAAASPAPTAPETFPYETAVAKCKEKLPVEDLYYQACVFDLLTTGDVNFTLAAYYALEDVKMLHSNKDKLH
LYERTRDLPGRAAAGLPLAPRPLLGALVPLLALLPVFC
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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 (1) | 1 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
CAUCASIAN | |||||||||||
Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ASD | - - |
- - |
Case Control Based Association Studies: 0
Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bonati, 2005 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Risch, 1999 | USA | microsatellite-based genomic screen | PDD | 90 | - | 90 | - | - | - | - |
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 |
---|---|---|---|---|
O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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