Evidence Details for AFF3
Basic Information Top
Gene Symbol: | AFF3 ( LAF4,MLLT2-like ) |
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Gene Full Name: | AF4/FMR2 family, member 3 |
Band: | 2q11.2 |
Quick Links | Entrez ID:3899; OMIM: 601464; Uniprot ID:AFF3_HUMAN; ENSEMBL ID: ENSG00000144218; HGNC ID: 6473 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>AFF3|3899|nucleotide
ATGGACAGCTTCGACTTAGCCCTGCTCCAGGAATGGGACCTCGAGTCACTGTGGGGTGAAGACATCTTAAACCAGAGGAATGACTCTCTAGTTGTGGAATTTCAG
TCATCAGCCAGCAGATGCAGGAGTGTCTATGAACCAGATAGAAATGCATTACGGAGGAAAGAACGAGAAAGAAGAAATCAAGAAACTCAACAGGATGATGGCACG
TTTAATTCTAGTTACTCTCTCTTCAGTGAGCCCTACAAGACTAACAAGGGGGATGAACTCTCCAACCGGATCCAGAACACTTTAGGCAATTATGATGAAATGAAA
GACTTTTTAACTGATAGATCCAATCAGAGTCATCTCGTTGGAGTTCCCAAACCTGGGGTTCCTCAGACTCCTGTGAACAAGATCGATGAACATTTTGTTGCAGAT
TCAAGAGCCCAGAACCAGCCCTCGTCTATCTGTAGCACTACAACTTCCACACCAGCAGCTGTCCCCGTGCAGCAGAGTAAGAGAGGCACTATGGGCTGGCAGAAG
GCTGGGCACCCACCCTCTGACGGCCAACAGAGAGCAACACAACAGGGCTCTCTCAGGACCTTGCTTGGAGATGGTGTTGGCAGACAGCAGCCTCGGGCCAAACAA
GTGTGCAATGTGGAGGTGGGCCTTCAGACCCAGGAGAGGCCACCTGCCATGGCGGCCAAGCACAGCAGCAGCGGACACTGTGTTCAGAACTTTCCTCCATCCCTA
GCTTCAAAACCCAGCCTGGTCCAGCAGAAACCGACCGCGTATGTGAGGCCAATGGACGGCCAAGATCAGGCCCCTGATGAGTCTCCTAAGCTGAAGTCGTCTTCG
GAAACCAGCGTGCACTGCACATCATACAGGGGAGTCCCTGCCAGCAAGCCGGAGCCTGCCAGAGCCAAGGCCAAGCTCTCCAAGTTCAGCATCCCCAAGCAGGGG
GAGGAGAGTAGATCTGGAGAAACCAACAGCTGTGTTGAAGAAATAATCCGGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAA
CCAACCAAATTTCCATTTCCAAATAAGGACTCTCAGCTTGTATCCTCTGGACACAATAATCCAAAGAAAGGTGATGCAGAGCCAGAGAGTCCAGACAATGGCACA
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ATGGACAGCTTCGACTTAGCCCTGCTCCAGGAATGGGACCTCGAGTCACTGTGGGGTGAAGACATCTTAAACCAGAGGAATGACTCTCTAGTTGTGGAATTTCAG
TCATCAGCCAGCAGATGCAGGAGTGTCTATGAACCAGATAGAAATGCATTACGGAGGAAAGAACGAGAAAGAAGAAATCAAGAAACTCAACAGGATGATGGCACG
TTTAATTCTAGTTACTCTCTCTTCAGTGAGCCCTACAAGACTAACAAGGGGGATGAACTCTCCAACCGGATCCAGAACACTTTAGGCAATTATGATGAAATGAAA
GACTTTTTAACTGATAGATCCAATCAGAGTCATCTCGTTGGAGTTCCCAAACCTGGGGTTCCTCAGACTCCTGTGAACAAGATCGATGAACATTTTGTTGCAGAT
TCAAGAGCCCAGAACCAGCCCTCGTCTATCTGTAGCACTACAACTTCCACACCAGCAGCTGTCCCCGTGCAGCAGAGTAAGAGAGGCACTATGGGCTGGCAGAAG
GCTGGGCACCCACCCTCTGACGGCCAACAGAGAGCAACACAACAGGGCTCTCTCAGGACCTTGCTTGGAGATGGTGTTGGCAGACAGCAGCCTCGGGCCAAACAA
GTGTGCAATGTGGAGGTGGGCCTTCAGACCCAGGAGAGGCCACCTGCCATGGCGGCCAAGCACAGCAGCAGCGGACACTGTGTTCAGAACTTTCCTCCATCCCTA
GCTTCAAAACCCAGCCTGGTCCAGCAGAAACCGACCGCGTATGTGAGGCCAATGGACGGCCAAGATCAGGCCCCTGATGAGTCTCCTAAGCTGAAGTCGTCTTCG
GAAACCAGCGTGCACTGCACATCATACAGGGGAGTCCCTGCCAGCAAGCCGGAGCCTGCCAGAGCCAAGGCCAAGCTCTCCAAGTTCAGCATCCCCAAGCAGGGG
GAGGAGAGTAGATCTGGAGAAACCAACAGCTGTGTTGAAGAAATAATCCGGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAA
CCAACCAAATTTCCATTTCCAAATAAGGACTCTCAGCTTGTATCCTCTGGACACAATAATCCAAAGAAAGGTGATGCAGAGCCAGAGAGTCCAGACAATGGCACA
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>AFF3|3899|protein
MDSFDLALLQEWDLESLWGEDILNQRNDSLVVEFQSSASRCRSVYEPDRNALRRKERERRNQETQQDDGTFNSSYSLFSEPYKTNKGDELSNRIQNTLGNYDEMK
DFLTDRSNQSHLVGVPKPGVPQTPVNKIDEHFVADSRAQNQPSSICSTTTSTPAAVPVQQSKRGTMGWQKAGHPPSDGQQRATQQGSLRTLLGDGVGRQQPRAKQ
VCNVEVGLQTQERPPAMAAKHSSSGHCVQNFPPSLASKPSLVQQKPTAYVRPMDGQDQAPDESPKLKSSSETSVHCTSYRGVPASKPEPARAKAKLSKFSIPKQG
EESRSGETNSCVEEIIREMTWLPPLSAIQAPGKVEPTKFPFPNKDSQLVSSGHNNPKKGDAEPESPDNGTSNTSMLEDDLKLSSDEEENEQQAAQRTALRALSDS
AVVQQPNCRTSVPSSKGSSSSSSSGSSSSSSDSESSSGSDSETESSSSESEGSKPPHFSSPEAEPASSNKWQLDKWLNKVNPHKPPILIQNESHGSESNQYYNPV
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MDSFDLALLQEWDLESLWGEDILNQRNDSLVVEFQSSASRCRSVYEPDRNALRRKERERRNQETQQDDGTFNSSYSLFSEPYKTNKGDELSNRIQNTLGNYDEMK
DFLTDRSNQSHLVGVPKPGVPQTPVNKIDEHFVADSRAQNQPSSICSTTTSTPAAVPVQQSKRGTMGWQKAGHPPSDGQQRATQQGSLRTLLGDGVGRQQPRAKQ
VCNVEVGLQTQERPPAMAAKHSSSGHCVQNFPPSLASKPSLVQQKPTAYVRPMDGQDQAPDESPKLKSSSETSVHCTSYRGVPASKPEPARAKAKLSKFSIPKQG
EESRSGETNSCVEEIIREMTWLPPLSAIQAPGKVEPTKFPFPNKDSQLVSSGHNNPKKGDAEPESPDNGTSNTSMLEDDLKLSSDEEENEQQAAQRTALRALSDS
AVVQQPNCRTSVPSSKGSSSSSSSGSSSSSSDSESSSGSDSETESSSSESEGSKPPHFSSPEAEPASSNKWQLDKWLNKVNPHKPPILIQNESHGSESNQYYNPV
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
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 |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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