Evidence Details for SLC2A4RG
Basic Information Top
| Gene Symbol: | SLC2A4RG ( GEF,HDBP1,Si-1-2,Si-1-2-19 ) |
|---|---|
| Gene Full Name: | SLC2A4 regulator |
| Band: | 20q13.33 |
| Quick Links | Entrez ID:56731; OMIM: 609493; Uniprot ID:S2A4R_HUMAN; ENSEMBL ID: ENSG00000125520; HGNC ID: 15930 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC2A4RG|56731|nucleotide
ATGGAGCGCCCCCCGCCCCGCGCCGCCGGCCGGGACCCCAGTGCGCTGCGGGCCGAGGCGCCGTGGCTGCGCGCGGAGGGTCCGGGGCCGCGCGCCGCGCCCGTG
ACGGTGCCCACGCCGCCGCAGGGCTCTTCCGTGGGCGGCGGCTTCGCGGGCTTGGAGTTCGCGCGGCCGCAGGAGTCGGAGCCGCGGGCCTCGGACCTGGGGGCC
CCCCGGACGTGGACGGGGGCGGCGGCGGGGCCCCGGACTCCGTCGGCGCACATCCCCGTCCCAGCGCAGAGAGCCACCCCAGGAAAAGCCCGGCTGGACGAGGTC
ATGGCTGCCGCTGCCCTTACAAGCCTGTCCACCAGCCCTCTCCTTCTGGGGGCCCCGGTTGCAGCCTTCAGCCCAGAGCCTGGCCTGGAGCCCTGGAAGGAGGCC
CTGGTGCGGCCCCCAGGCAGCTACAGCAGCAGCAGCAACAGTGGAGACTGGGGATGGGACCTGGCCAGTGACCAGTCCTCTCCGTCCACCCCGTCACCCCCACTG
CCCCCCGAGGCAGCCCACTTTCTGTTTGGGGAGCCCACCCTGAGAAAAAGGAAGAGCCCGGCCCAGGTCATGTTCCAGTGTCTGTGGAAGAGCTGCGGGAAGGTG
CTGAGCACGGCGTCGGCGATGCAGAGACACATCCGCCTGGTGCACCTGGGGAGGCAGGCAGAGCCTGAGCAGAGTGATGGTGAGGAGGACTTCTACTACACAGAG
CTGGATGTTGGTGTGGACACGCTGACCGACGGGCTGTCCAGCCTGACTCCAGTGTCCCCCACGGCCTCCATGCCGCCTGCCTTCCCCCGCCTGGAGCTGCCAGAG
CTGCTGGAGCCCCCAGCCCTGCCTAGTCCCCTGCGGCCGCCTGCCCCGCCCCTGCCCCCGCCCCCTGTCCTGAGCACCGTTGCTAACCCCCAGTCCTGTCACAGT
GACCGTGTCTACCAGGGCTGCCTGACGCCCGCCCGCCTGGAGCCGCAGCCCACGGAGGTCGGAGCCTGCCCACCCGCCTTGTCCTCCAGGATCGGAGTCACCCTG
AGGAAGCCCCGCGGCGACGCGAAGAAGTGCCGGAAGGTGTATGGCATGGAGCGCCGGGACCTCTGGTGCACAGCCTGCCGCTGGAAGAAAGCCTGCCAGCGGTTC
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ATGGAGCGCCCCCCGCCCCGCGCCGCCGGCCGGGACCCCAGTGCGCTGCGGGCCGAGGCGCCGTGGCTGCGCGCGGAGGGTCCGGGGCCGCGCGCCGCGCCCGTG
ACGGTGCCCACGCCGCCGCAGGGCTCTTCCGTGGGCGGCGGCTTCGCGGGCTTGGAGTTCGCGCGGCCGCAGGAGTCGGAGCCGCGGGCCTCGGACCTGGGGGCC
CCCCGGACGTGGACGGGGGCGGCGGCGGGGCCCCGGACTCCGTCGGCGCACATCCCCGTCCCAGCGCAGAGAGCCACCCCAGGAAAAGCCCGGCTGGACGAGGTC
ATGGCTGCCGCTGCCCTTACAAGCCTGTCCACCAGCCCTCTCCTTCTGGGGGCCCCGGTTGCAGCCTTCAGCCCAGAGCCTGGCCTGGAGCCCTGGAAGGAGGCC
CTGGTGCGGCCCCCAGGCAGCTACAGCAGCAGCAGCAACAGTGGAGACTGGGGATGGGACCTGGCCAGTGACCAGTCCTCTCCGTCCACCCCGTCACCCCCACTG
CCCCCCGAGGCAGCCCACTTTCTGTTTGGGGAGCCCACCCTGAGAAAAAGGAAGAGCCCGGCCCAGGTCATGTTCCAGTGTCTGTGGAAGAGCTGCGGGAAGGTG
CTGAGCACGGCGTCGGCGATGCAGAGACACATCCGCCTGGTGCACCTGGGGAGGCAGGCAGAGCCTGAGCAGAGTGATGGTGAGGAGGACTTCTACTACACAGAG
CTGGATGTTGGTGTGGACACGCTGACCGACGGGCTGTCCAGCCTGACTCCAGTGTCCCCCACGGCCTCCATGCCGCCTGCCTTCCCCCGCCTGGAGCTGCCAGAG
CTGCTGGAGCCCCCAGCCCTGCCTAGTCCCCTGCGGCCGCCTGCCCCGCCCCTGCCCCCGCCCCCTGTCCTGAGCACCGTTGCTAACCCCCAGTCCTGTCACAGT
GACCGTGTCTACCAGGGCTGCCTGACGCCCGCCCGCCTGGAGCCGCAGCCCACGGAGGTCGGAGCCTGCCCACCCGCCTTGTCCTCCAGGATCGGAGTCACCCTG
AGGAAGCCCCGCGGCGACGCGAAGAAGTGCCGGAAGGTGTATGGCATGGAGCGCCGGGACCTCTGGTGCACAGCCTGCCGCTGGAAGAAAGCCTGCCAGCGGTTC
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>SLC2A4RG|56731|protein
MERPPPRAAGRDPSALRAEAPWLRAEGPGPRAAPVTVPTPPQGSSVGGGFAGLEFARPQESEPRASDLGAPRTWTGAAAGPRTPSAHIPVPAQRATPGKARLDEV
MAAAALTSLSTSPLLLGAPVAAFSPEPGLEPWKEALVRPPGSYSSSSNSGDWGWDLASDQSSPSTPSPPLPPEAAHFLFGEPTLRKRKSPAQVMFQCLWKSCGKV
LSTASAMQRHIRLVHLGRQAEPEQSDGEEDFYYTELDVGVDTLTDGLSSLTPVSPTASMPPAFPRLELPELLEPPALPSPLRPPAPPLPPPPVLSTVANPQSCHS
DRVYQGCLTPARLEPQPTEVGACPPALSSRIGVTLRKPRGDAKKCRKVYGMERRDLWCTACRWKKACQRFLD
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MERPPPRAAGRDPSALRAEAPWLRAEGPGPRAAPVTVPTPPQGSSVGGGFAGLEFARPQESEPRASDLGAPRTWTGAAAGPRTPSAHIPVPAQRATPGKARLDEV
MAAAALTSLSTSPLLLGAPVAAFSPEPGLEPWKEALVRPPGSYSSSSNSGDWGWDLASDQSSPSTPSPPLPPEAAHFLFGEPTLRKRKSPAQVMFQCLWKSCGKV
LSTASAMQRHIRLVHLGRQAEPEQSDGEEDFYYTELDVGVDTLTDGLSSLTPVSPTASMPPAFPRLELPELLEPPALPSPLRPPAPPLPPPPVLSTVANPQSCHS
DRVYQGCLTPARLEPQPTEVGACPPALSSRIGVTLRKPRGDAKKCRKVYGMERRDLWCTACRWKKACQRFLD
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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 (0) | 0 (0) | 0 (0) | 2 (5) |
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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Bucan, 2009 | USA | SNP microarray | |  | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top