AutismKB 2.0

Evidence Details for SF3B2


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Basic Information Top
Gene Symbol:SF3B2 ( Cus1,SAP145,SF3B145,SF3b1,SF3b150 )
Gene Full Name: splicing factor 3b, subunit 2, 145kDa
Band: 11q13.1
Quick LinksEntrez ID:10992; OMIM: 605591; Uniprot ID:SF3B2_HUMAN; ENSEMBL ID: ENSG00000087365; HGNC ID: 10769
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SF3B2|10992|nucleotide
ATGGCGACGGAGCATCCCGAGCCTCCCAAAGCAGAATTGCAGCTGCCGCCGCCGCCACCTCCAGGCCACTATGGCGCCTGGGCTGCCCAGGAGCTTCAGGCCAAG
TTGGCAGAGATCGGAGCTCCGATCCAGGGTAATCGCGAGGAGCTGGTGGAGCGGCTGCAGAGCTACACCCGCCAGACTGGCATCGTGCTGAATCGGCCGGTTTTG
AGAGGGGAAGATGGGGACAAAGCCGCTCCACCTCCCATGTCGGCACAGCTCCCTGGAATTCCCATGCCACCACCACCTTTGGGACTCCCCCCTCTGCAGCCTCCT
CCGCCACCCCCACCACCTCCACCAGGCCTTGGCCTTGGCTTTCCTATGGCCCACCCACCAAATTTGGGGCCCCCGCCTCCTCTCCGTGTGGGTGAGCCAGTGGCA
CTGTCAGAGGAGGAGCGGCTGAAGTTGGCTCAGCAGCAGGCGGCATTGCTGATGCAGCAGGAGGAGCGTGCCAAGCAGCAGGGAGATCATTCGCTGAAGGAACAT
GAGCTCTTGGAGCAGCAGAAGCGGGCAGCTGTGTTACTGGAGCAGGAACGACAGCAGGAGATTGCCAAGATGGGCACCCCAGTCCCTCGGCCCCCACAAGACATG
GGCCAGATTGGTGTGCGCACTCCTCTGGGTCCTCGAGTAGCTGCTCCAGTGGGCCCAGTGGGCCCCACTCCTACAGTTTTGCCCATGGGAGCCCCTGTTCCCCGG
CCTCGTGGTCCCCCACCGCCCCCTGGAGATGAGAACAGAGAGATGGATGACCCCTCTGTGGGCCCCAAGATCCCCCAGGCTTTGGAGAAGATCCTGCAGCTGAAG
GAGAGCCGCCAGGAAGAGATGAATTCTCAGCAGGAGGAAGAGGAAATGGAAACAGATGCTCGCTCGTCCCTGGGCCAGTCAGCGTCAGAGACTGAGGAGGACACA
GTGTCCGTATCTAAAAAGGAGAAAAACCGGAAGCGTAGGAACCGAAAGAAGAAGAAAAAGCCCCAGCGGGTGCGAGGGGTGTCCTCTGAGAGCTCTGGGGACCGG
GAGAAAGACTCAACCCGGTCCCGTGGCTCTGATTCCCCAGCAGCTGATGTTGAGATTGAGTATGTGACTGAAGAACCTGAAATTTACGAGCCCAACTTTATCTTC
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>SF3B2|10992|protein
MATEHPEPPKAELQLPPPPPPGHYGAWAAQELQAKLAEIGAPIQGNREELVERLQSYTRQTGIVLNRPVLRGEDGDKAAPPPMSAQLPGIPMPPPPLGLPPLQPP
PPPPPPPPGLGLGFPMAHPPNLGPPPPLRVGEPVALSEEERLKLAQQQAALLMQQEERAKQQGDHSLKEHELLEQQKRAAVLLEQERQQEIAKMGTPVPRPPQDM
GQIGVRTPLGPRVAAPVGPVGPTPTVLPMGAPVPRPRGPPPPPGDENREMDDPSVGPKIPQALEKILQLKESRQEEMNSQQEEEEMETDARSSLGQSASETEEDT
VSVSKKEKNRKRRNRKKKKKPQRVRGVSSESSGDREKDSTRSRGSDSPAADVEIEYVTEEPEIYEPNFIFFKRIFEAFKLTDDVKKEKEKEPEKLDKLENSAAPK
KKGFEEEHKDSDDDSSDDEQEKKPEAPKLSKKKLRRMNRFTVAELKQLVARPDVVEMHDVTAQDPKLLVHLKATRNSVPVPRHWCFKRKYLQGKRGIEKPPFELP
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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