AutismKB 2.0

Evidence Details for SF3A3


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Basic Information Top
Gene Symbol:SF3A3 ( PRP9,PRPF9,SAP61,SF3a60 )
Gene Full Name: splicing factor 3a, subunit 3, 60kDa
Band: 1p34.3
Quick LinksEntrez ID:10946; OMIM: 605596; Uniprot ID:SF3A3_HUMAN; ENSEMBL ID: ENSG00000183431; HGNC ID: 10767
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SF3A3|10946|nucleotide
ATGGAGACAATACTGGAGCAGCAGCGGCGCTATCATGAGGAGAAGGAACGGCTCATGGACGTCATGGCTAAAGAGATGCTCACCAAGAAGTCCACGCTCCGGGAC
CAGATCAATTCTGATCACCGCACTCGGGCCATGCAAGATAGGTATATGGAGGTCAGTGGGAACCTGAGGGATTTGTATGATGATAAGGATGGATTACGAAAGGAG
GAGCTCAATGCCATTTCAGGACCCAATGAGTTTGCTGAATTCTATAATAGACTCAAGCAAATAAAGGAATTCCACCGGAAGCACCCAAATGAGATCTGTGTGCCA
ATGTCAGTGGAATTTGAGGAACTCCTGAAGGCTCGAGAGAATCCAAGTGAAGAGGCACAAAACTTGGTGGAGTTCACAGATGAAGAGGGATATGGTCGTTATCTC
GATCTCCATGACTGTTACCTCAAGTACATTAACCTGAAGGCATCTGAGAAGCTGGATTATATCACATACCTGTCCATCTTTGACCAATTATTTGACATTCCTAAA
GAAAGGAAGAATGCAGAGTATAAGAGATACCTAGAGATGCTGCTTGAGTACCTTCAGGATTACACAGATAGAGTGAAGCCTCTCCAAGATCAGAATGAACTTTTT
GGGAAGATTCAGGCTGAGTTTGAGAAGAAATGGGAGAATGGGACCTTTCCTGGATGGCCGAAAGAGACAAGCAGTGCCCTGACCCATGCTGGAGCCCATCTTGAC
CTCTCTGCATTCTCCTCCTGGGAGGAGTTGGCTTCTCTGGGTTTGGACAGATTGAAATCTGCTCTCTTAGCTTTAGGCTTGAAATGTGGCGGGACCCTAGAAGAG
CGAGCCCAGAGACTATTCAGTACCAAAGGAAAGTCCCTGGAGTCACTTGATACCTCTTTGTTTGCCAAAAATCCCAAGTCAAAGGGCACCAAGCGAGACACTGAA
AGGAACAAAGACATTGCTTTTCTAGAAGCCCAGATCTATGAATATGTAGAGATTCTCGGGGAACAGCGACATCTCACTCATGAAAATGTACAGCGCAAGCAAGCC
AGGACAGGAGAAGAGCGAGAAGAAGAGGAAGAAGAGCAGATCAGTGAGAGTGAGAGTGAAGATGAAGAGAACGAGATCATTTACAACCCCAAAAACCTGCCACTT
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>SF3A3|10946|protein
METILEQQRRYHEEKERLMDVMAKEMLTKKSTLRDQINSDHRTRAMQDRYMEVSGNLRDLYDDKDGLRKEELNAISGPNEFAEFYNRLKQIKEFHRKHPNEICVP
MSVEFEELLKARENPSEEAQNLVEFTDEEGYGRYLDLHDCYLKYINLKASEKLDYITYLSIFDQLFDIPKERKNAEYKRYLEMLLEYLQDYTDRVKPLQDQNELF
GKIQAEFEKKWENGTFPGWPKETSSALTHAGAHLDLSAFSSWEELASLGLDRLKSALLALGLKCGGTLEERAQRLFSTKGKSLESLDTSLFAKNPKSKGTKRDTE
RNKDIAFLEAQIYEYVEILGEQRHLTHENVQRKQARTGEEREEEEEEQISESESEDEENEIIYNPKNLPLGWDGKPIPYWLYKLHGLNINYNCEICGNYTYRGPK
AFQRHFAEWRHAHGMRCLGIPNTAHFANVTQIEDAVSLWAKLKLQKASERWQPDTEEEYEDSSGNVVNKKTYEDLKRQGLL
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top