Evidence Details for RBM27
Basic Information Top
Gene Symbol: | RBM27 ( ARRS1,KIAA1311,Psc1 ) |
---|---|
Gene Full Name: | RNA binding motif protein 27 |
Band: | 5q32 |
Quick Links | Entrez ID:54439; OMIM: NA; Uniprot ID:RBM27_HUMAN; ENSEMBL ID: ENSG00000091009; HGNC ID: 29243 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>RBM27|54439|nucleotide
ATGCTCATAGAGGATGTGGATGCCCTCAAGTCCTGGCTGGCCAAGTTACTGGAGCCGATATGTGATGCTGATCCTTCAGCCTTAGCCAACTATGTTGTAGCACTG
GTCAAGAAGGACAAACCTGAGAAAGAATTAAAAGCCTTTTGTGCTGATCAACTTGATGTCTTTTTACAAAAAGAAACTTCAGGTTTTGTGGACAAACTATTTGAA
AGTCTCTATACTAAGAACTACCTTCCACTTTTGGAACCAGTAAAGCCTGAGCCAAAACCACTAGTCCAAGAAAAAGAAGAAATTAAAGAAGAGGTATTTCAGGAG
CCAGCAGAGGAAGAACGAGATGGCAGAAAAAAGAAATATCCTAGTCCCCAGAAGACTCGTTCAGAATCTAGTGAACGAAGGACACGTGAGAAAAAAAGAGAAGAC
GGGAAATGGAGAGACTATGACCGGTACTATGAGCGGAATGAATTGTACCGTGAGAAGTATGACTGGAGAAGAGGCAGGAGTAAGAGTCGGAGTAAGAGTCGAGGC
CTGAGTCGCAGTAGAAGCCGAAGTAGGGGGCGCAGCAAAGACCGGGATCCAAATAGGAATGTTGAGCACAGGGAAAGATCGAAGTTTAAGAGTGAAAGGAATGAC
CTGGAGAGTTCCTATGTGCCTGTGTCTGCACCACCTCCAAACTCTTCTGAGCAGTATTCCTCTGGGGCACAGTCTATTCCCAGCACTGTTACTGTGATCGCACCT
GCTCACCACTCTGAAAACACAACTGAGAGTTGGTCTAATTACTATAACAATCATAGCTCTTCCAATTCTTTTGGTCGAAACCTACCACCAAAGAGGCGATGCAGA
GATTATGATGAAAGAGGATTTTGTGTACTTGGTGACCTTTGTCAGTTTGATCATGGAAATGATCCCCTAGTTGTTGATGAAGTTGCTCTGCCAAGTATGATTCCT
TTCCCACCCCCTCCTCCTGGGCTTCCTCCTCCACCACCTCCTGGAATGTTAATGCCTCCAATGCCAGGTCCAGGCCCAGGCCCGGGCCCAGGTCCAGGCCCAGGC
CCGGGCCCAGGTCCAGGTCCTGGCCATAGTATGAGACTTCCTGTTCCCCAAGGACATGGTCAGCCTCCACCATCCGTTGTGCTTCCCATACCAAGACCACCTATA
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ATGCTCATAGAGGATGTGGATGCCCTCAAGTCCTGGCTGGCCAAGTTACTGGAGCCGATATGTGATGCTGATCCTTCAGCCTTAGCCAACTATGTTGTAGCACTG
GTCAAGAAGGACAAACCTGAGAAAGAATTAAAAGCCTTTTGTGCTGATCAACTTGATGTCTTTTTACAAAAAGAAACTTCAGGTTTTGTGGACAAACTATTTGAA
AGTCTCTATACTAAGAACTACCTTCCACTTTTGGAACCAGTAAAGCCTGAGCCAAAACCACTAGTCCAAGAAAAAGAAGAAATTAAAGAAGAGGTATTTCAGGAG
CCAGCAGAGGAAGAACGAGATGGCAGAAAAAAGAAATATCCTAGTCCCCAGAAGACTCGTTCAGAATCTAGTGAACGAAGGACACGTGAGAAAAAAAGAGAAGAC
GGGAAATGGAGAGACTATGACCGGTACTATGAGCGGAATGAATTGTACCGTGAGAAGTATGACTGGAGAAGAGGCAGGAGTAAGAGTCGGAGTAAGAGTCGAGGC
CTGAGTCGCAGTAGAAGCCGAAGTAGGGGGCGCAGCAAAGACCGGGATCCAAATAGGAATGTTGAGCACAGGGAAAGATCGAAGTTTAAGAGTGAAAGGAATGAC
CTGGAGAGTTCCTATGTGCCTGTGTCTGCACCACCTCCAAACTCTTCTGAGCAGTATTCCTCTGGGGCACAGTCTATTCCCAGCACTGTTACTGTGATCGCACCT
GCTCACCACTCTGAAAACACAACTGAGAGTTGGTCTAATTACTATAACAATCATAGCTCTTCCAATTCTTTTGGTCGAAACCTACCACCAAAGAGGCGATGCAGA
GATTATGATGAAAGAGGATTTTGTGTACTTGGTGACCTTTGTCAGTTTGATCATGGAAATGATCCCCTAGTTGTTGATGAAGTTGCTCTGCCAAGTATGATTCCT
TTCCCACCCCCTCCTCCTGGGCTTCCTCCTCCACCACCTCCTGGAATGTTAATGCCTCCAATGCCAGGTCCAGGCCCAGGCCCGGGCCCAGGTCCAGGCCCAGGC
CCGGGCCCAGGTCCAGGTCCTGGCCATAGTATGAGACTTCCTGTTCCCCAAGGACATGGTCAGCCTCCACCATCCGTTGTGCTTCCCATACCAAGACCACCTATA
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | (0) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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 |
---|---|---|---|---|
Krumm N, 2015 | 2377 | 1373 | 77 | Excess of rare, inherited truncating mutations in autism |
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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