Evidence Details for RASSF6
Basic Information Top
| Gene Symbol: | RASSF6 ( DKFZp686K23225 ) |
|---|---|
| Gene Full Name: | Ras association (RalGDS/AF-6) domain family member 6 |
| Band: | 4q13.3 |
| Quick Links | Entrez ID:166824; OMIM: 612620; Uniprot ID:RASF6_HUMAN; ENSEMBL ID: ENSG00000169435; HGNC ID: 20796 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>RASSF6|166824|nucleotide
ATGACTATGATGGCTCACCAGTACCCCTCTTGGATCTTCATTAATGAGAAGACATTCATAACCAGGGAACAACTTAATTCTTTATTGAAGACCTATAACATTTTT
TATGAGAACCAGAAAAATCTGCATATTTTATATGGAGAGACTGAAGATGGCAAACTAATTGTTGAAGGAATGCTGGACATTTTCTGGGGAGTAAAACGACCTATA
CAGCTAAAAATACAAGATGAGAAGCCATTCTCTTCTTTTACTAGTATGAAGTCATCAGACGTCTTCTCCAGCAAAGGAATGACACGCTGGGGGGAATTTGACGAT
CTCTATCGTATTAGTGAGCTGGACAGGACCCAGATTCCTATGTCTGAAAAAAGGAATTCCCAGGAAGACTATTTATCTTATCACAGCAACACCCTGAAGCCACAT
GCAAAGGATGAACCAGACTCCCCAGTGCTCTATAGAACCATGAGTGAAGCAGCTCTGGTGAGAAAAAGGATGAAGCCTCTGATGATGGACAGAAAAGAAAGACAG
AAAAATAGAGCCTCTATTAATGGACACTTCTATAACCATGAAACATCAATTTTCATTCCAGCCTTTGAATCAGAAACTAAGGTCAGAGTAAACAGTAACATGAGA
ACTGAAGAAGTAATAAAGCAACTTCTCCAAAAATTTAAGATTGAAAATAGTCCCCAGGATTTTGCTCTTCACATTATTTTTGCAACAGGAGAACAAAGACGACTA
AAGAAGACAGACATTCCGCTACTGCAGAGGCTCCTACAGGGACCTTCTGAAAAGAATGCTCGCATTTTCCTCATGGATAAAGATGCAGAAGAAATTAGCAGTGAT
GTGGCTCAGTACATTAACTTTCACTTTTCTCTCTTGGAATCCATTCTTCAAAGATTAAATGAAGAAGAGAAAAGAGAGATTCAAAGAATAGTAACAAAATTCAAT
AAAGAAAAGGCGATTATACTGAAATGTCTTCAAAATAAACTAGTAATAAAAACAGAGACAACAGTTTAG
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ATGACTATGATGGCTCACCAGTACCCCTCTTGGATCTTCATTAATGAGAAGACATTCATAACCAGGGAACAACTTAATTCTTTATTGAAGACCTATAACATTTTT
TATGAGAACCAGAAAAATCTGCATATTTTATATGGAGAGACTGAAGATGGCAAACTAATTGTTGAAGGAATGCTGGACATTTTCTGGGGAGTAAAACGACCTATA
CAGCTAAAAATACAAGATGAGAAGCCATTCTCTTCTTTTACTAGTATGAAGTCATCAGACGTCTTCTCCAGCAAAGGAATGACACGCTGGGGGGAATTTGACGAT
CTCTATCGTATTAGTGAGCTGGACAGGACCCAGATTCCTATGTCTGAAAAAAGGAATTCCCAGGAAGACTATTTATCTTATCACAGCAACACCCTGAAGCCACAT
GCAAAGGATGAACCAGACTCCCCAGTGCTCTATAGAACCATGAGTGAAGCAGCTCTGGTGAGAAAAAGGATGAAGCCTCTGATGATGGACAGAAAAGAAAGACAG
AAAAATAGAGCCTCTATTAATGGACACTTCTATAACCATGAAACATCAATTTTCATTCCAGCCTTTGAATCAGAAACTAAGGTCAGAGTAAACAGTAACATGAGA
ACTGAAGAAGTAATAAAGCAACTTCTCCAAAAATTTAAGATTGAAAATAGTCCCCAGGATTTTGCTCTTCACATTATTTTTGCAACAGGAGAACAAAGACGACTA
AAGAAGACAGACATTCCGCTACTGCAGAGGCTCCTACAGGGACCTTCTGAAAAGAATGCTCGCATTTTCCTCATGGATAAAGATGCAGAAGAAATTAGCAGTGAT
GTGGCTCAGTACATTAACTTTCACTTTTCTCTCTTGGAATCCATTCTTCAAAGATTAAATGAAGAAGAGAAAAGAGAGATTCAAAGAATAGTAACAAAATTCAAT
AAAGAAAAGGCGATTATACTGAAATGTCTTCAAAATAAACTAGTAATAAAAACAGAGACAACAGTTTAG
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>RASSF6|166824|protein
MTMMAHQYPSWIFINEKTFITREQLNSLLKTYNIFYENQKNLHILYGETEDGKLIVEGMLDIFWGVKRPIQLKIQDEKPFSSFTSMKSSDVFSSKGMTRWGEFDD
LYRISELDRTQIPMSEKRNSQEDYLSYHSNTLKPHAKDEPDSPVLYRTMSEAALVRKRMKPLMMDRKERQKNRASINGHFYNHETSIFIPAFESETKVRVNSNMR
TEEVIKQLLQKFKIENSPQDFALHIIFATGEQRRLKKTDIPLLQRLLQGPSEKNARIFLMDKDAEEISSDVAQYINFHFSLLESILQRLNEEEKREIQRIVTKFN
KEKAIILKCLQNKLVIKTETTV
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MTMMAHQYPSWIFINEKTFITREQLNSLLKTYNIFYENQKNLHILYGETEDGKLIVEGMLDIFWGVKRPIQLKIQDEKPFSSFTSMKSSDVFSSKGMTRWGEFDD
LYRISELDRTQIPMSEKRNSQEDYLSYHSNTLKPHAKDEPDSPVLYRTMSEAALVRKRMKPLMMDRKERQKNRASINGHFYNHETSIFIPAFESETKVRVNSNMR
TEEVIKQLLQKFKIENSPQDFALHIIFATGEQRRLKKTDIPLLQRLLQGPSEKNARIFLMDKDAEEISSDVAQYINFHFSLLESILQRLNEEEKREIQRIVTKFN
KEKAIILKCLQNKLVIKTETTV
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 0 (2) |
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
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
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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