Evidence Details for RALA
Basic Information Top
Gene Symbol: | RALA ( MGC48949,RAL ) |
---|---|
Gene Full Name: | v-ral simian leukemia viral oncogene homolog A (ras related) |
Band: | 7p14.1 |
Quick Links | Entrez ID:5898; OMIM: 179550; Uniprot ID:RALA_HUMAN; ENSEMBL ID: ENSG00000006451; HGNC ID: 9839 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>RALA|5898|nucleotide
ATGGCTGCAAATAAGCCCAAGGGTCAGAATTCTTTGGCTTTACACAAAGTCATCATGGTGGGCAGTGGTGGCGTGGGCAAGTCAGCTCTGACTCTACAGTTCATG
TACGATGAGTTTGTGGAGGACTATGAGCCTACCAAAGCAGACAGCTATCGGAAGAAGGTAGTGCTAGATGGGGAGGAAGTCCAGATCGATATCTTAGATACAGCT
GGGCAGGAGGACTACGCTGCAATTAGAGACAACTACTTCCGAAGTGGGGAGGGGTTCCTCTGTGTTTTCTCTATTACAGAAATGGAATCCTTTGCAGCTACAGCT
GACTTCAGGGAGCAGATTTTAAGAGTAAAAGAAGATGAGAATGTTCCATTTCTACTGGTTGGTAACAAATCAGATTTAGAAGATAAAAGACAGGTTTCTGTAGAA
GAGGCAAAAAACAGAGCTGAGCAGTGGAATGTTAACTACGTGGAAACATCTGCTAAAACACGAGCTAATGTTGACAAGGTATTTTTTGATTTAATGAGAGAAATT
CGAGCGAGAAAGATGGAAGACAGCAAAGAAAAGAATGGAAAAAAGAAGAGGAAAAGTTTAGCCAAGAGAATCAGAGAAAGATGCTGCATTTTATAA
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ATGGCTGCAAATAAGCCCAAGGGTCAGAATTCTTTGGCTTTACACAAAGTCATCATGGTGGGCAGTGGTGGCGTGGGCAAGTCAGCTCTGACTCTACAGTTCATG
TACGATGAGTTTGTGGAGGACTATGAGCCTACCAAAGCAGACAGCTATCGGAAGAAGGTAGTGCTAGATGGGGAGGAAGTCCAGATCGATATCTTAGATACAGCT
GGGCAGGAGGACTACGCTGCAATTAGAGACAACTACTTCCGAAGTGGGGAGGGGTTCCTCTGTGTTTTCTCTATTACAGAAATGGAATCCTTTGCAGCTACAGCT
GACTTCAGGGAGCAGATTTTAAGAGTAAAAGAAGATGAGAATGTTCCATTTCTACTGGTTGGTAACAAATCAGATTTAGAAGATAAAAGACAGGTTTCTGTAGAA
GAGGCAAAAAACAGAGCTGAGCAGTGGAATGTTAACTACGTGGAAACATCTGCTAAAACACGAGCTAATGTTGACAAGGTATTTTTTGATTTAATGAGAGAAATT
CGAGCGAGAAAGATGGAAGACAGCAAAGAAAAGAATGGAAAAAAGAAGAGGAAAAGTTTAGCCAAGAGAATCAGAGAAAGATGCTGCATTTTATAA
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>RALA|5898|protein
MAANKPKGQNSLALHKVIMVGSGGVGKSALTLQFMYDEFVEDYEPTKADSYRKKVVLDGEEVQIDILDTAGQEDYAAIRDNYFRSGEGFLCVFSITEMESFAATA
DFREQILRVKEDENVPFLLVGNKSDLEDKRQVSVEEAKNRAEQWNVNYVETSAKTRANVDKVFFDLMREIRARKMEDSKEKNGKKKRKSLAKRIRERCCIL
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MAANKPKGQNSLALHKVIMVGSGGVGKSALTLQFMYDEFVEDYEPTKADSYRKKVVLDGEEVQIDILDTAGQEDYAAIRDNYFRSGEGFLCVFSITEMESFAATA
DFREQILRVKEDENVPFLLVGNKSDLEDKRQVSVEEAKNRAEQWNVNYVETSAKTRANVDKVFFDLMREIRARKMEDSKEKNGKKKRKSLAKRIRERCCIL
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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) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 14 (3) |
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 | ||||||
Wolpert, 2001 | - | FISH | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2008 | - | SNP-based genomic screen | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
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 |
---|---|---|---|---|
Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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