AutismKB 2.0

Evidence Details for SF1


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Basic Information Top
Gene Symbol:SF1 ( BBP,D11S636,MBBP,ZFM1,ZNF162 )
Gene Full Name: splicing factor 1
Band: 11q13.1
Quick LinksEntrez ID:7536; OMIM: 601516; Uniprot ID:SF01_HUMAN; ENSEMBL ID: ENSG00000168066; HGNC ID: 12950
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SF1|7536|nucleotide
ATGGCGACCGGAGCGAACGCCACGCCGTTGGGTAAGCTGGGCCCCCCCGGGCTGCCCCCGCTCCCCGGGCCCAAAGGAGGCTTCGAGCCGGGCCCTCCGCCTGCA
CCCGGGCCTGGGGCGGGGCTGCTGGCTCCCGGGCCGCCGCCGCCCCCGCCCGTGGGCTCGATGGGGGCCCTGACCGCGGCCTTCCCCTTCGCGGCGCTGCCTCCG
CCGCCTCCGCCGCCGCCCCCTCCGCCTCCCCAGCAGCCGCCGCCGCCTCCACCGCCACCGTCCCCCGGCGCCTCGTACCCGCCGCCGCAGCCGCCCCCTCCGCCG
CCGCTCTACCAGCGCGTGTCGCCGCCGCAGCCGCCGCCACCCCAGCCGCCGCGTAAGGACCAGCAGCCGGGCCCGGCCGGCGGCGGAGGAGACTTCCCAAGTAAG
AAGCGGAAGAGGAGCCGCTGGAACCAAGACACAATGGAACAGAAGACAGTGATTCCAGGAATGCCTACAGTTATTCCCCCTGGACTTACTCGAGAACAAGAAAGA
GCTTATATAGTGCAACTGCAGATAGAAGACCTGACTCGTAAACTGCGCACAGGAGACCTGGGCATCCCCCCTAACCCTGAGGACAGGTCCCCTTCCCCTGAGCCC
ATCTACAATAGCGAGGGGAAGCGGCTTAACACCCGAGAGTTCCGCACCCGCAAAAAGCTGGAAGAGGAGCGGCACAACCTCATCACAGAGATGGTTGCACTCAAT
CCGGATTTCAAGCCACCTGCAGATTACAAACCTCCAGCAACACGTGTGAGTGATAAAGTCATGATTCCACAAGATGAGTACCCAGAAATCAACTTTGTGGGGCTG
CTCATCGGGCCCAGAGGGAACACCCTGAAGAACATAGAGAAGGAGTGCAATGCCAAGATTATGATCCGGGGGAAAGGGTCTGTGAAAGAAGGGAAGGTTGGGCGC
AAAGATGGCCAGATGTTGCCAGGAGAAGATGAGCCACTTCATGCCCTGGTTACTGCCAATACAATGGAGAACGTCAAAAAGGCAGTGGAACAGATAAGAAACATC
CTGAAGCAGGGTATCGAGACTCCAGAGGACCAGAATGATCTACGGAAGATGCAGCTTCGGGAGTTGGCTCGCTTAAATGGGACCCTTCGGGAAGACGATAACAGG
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>SF1|7536|protein
MATGANATPLGKLGPPGLPPLPGPKGGFEPGPPPAPGPGAGLLAPGPPPPPPVGSMGALTAAFPFAALPPPPPPPPPPPPQQPPPPPPPPSPGASYPPPQPPPPP
PLYQRVSPPQPPPPQPPRKDQQPGPAGGGGDFPSKKRKRSRWNQDTMEQKTVIPGMPTVIPPGLTREQERAYIVQLQIEDLTRKLRTGDLGIPPNPEDRSPSPEP
IYNSEGKRLNTREFRTRKKLEEERHNLITEMVALNPDFKPPADYKPPATRVSDKVMIPQDEYPEINFVGLLIGPRGNTLKNIEKECNAKIMIRGKGSVKEGKVGR
KDGQMLPGEDEPLHALVTANTMENVKKAVEQIRNILKQGIETPEDQNDLRKMQLRELARLNGTLREDDNRILRPWQSSETRSITNTTVCTKCGGAGHIASDCKFQ
RPGDPQSAQDKARMDKEYLSLMAELGEAPVPASVGSTSGPATTPLASAPRPAAPANNPPPPSLMSTTQSRPPWMNSGPSESRPYHGMHGGGPGGPGGGPHSFPHP
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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