AutismKB 2.0

Evidence Details for SFPQ


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Basic Information Top
Gene Symbol:SFPQ ( POMP100,PSF )
Gene Full Name: splicing factor proline/glutamine-rich
Band: 1p34.3
Quick LinksEntrez ID:6421; OMIM: 605199; Uniprot ID:SFPQ_HUMAN; ENSEMBL ID: ENSG00000116560; HGNC ID: 10774
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SFPQ|6421|nucleotide
ATGTCTCGGGATCGGTTCCGGAGTCGTGGCGGTGGCGGTGGTGGCTTCCACAGGCGTGGAGGAGGCGGCGGCCGCGGCGGCCTCCACGACTTCCGTTCTCCGCCG
CCCGGCATGGGCCTCAATCAGAATCGCGGCCCCATGGGTCCTGGCCCGGGCCAGAGCGGCCCTAAGCCTCCGATCCCGCCACCGCCTCCACACCAACAGCAGCAA
CAGCCACCACCGCAGCAGCCACCGCCGCAGCAGCCGCCACCGCATCAGCCGCCGCCGCATCCACAGCCGCATCAGCAGCAGCAGCCGCCGCCACCGCCGCAGGAC
TCTTCCAAGCCCGTCGTTGCTCAGGGACCCGGCCCCGCTCCCGGAGTAGGCAGCGCACCACCAGCCTCCAGCTCGGCCCCGCCCGCCACTCCACCAACCTCGGGG
GCCCCGCCAGGGTCCGGGCCAGGCCCGACTCCGACCCCGCCGCCTGCAGTCACCTCGGCCCCTCCCGGGGCGCCGCCACCCACCCCGCCAAGCAGCGGGGTCCCT
ACCACACCTCCTCAGGCCGGAGGCCCGCCGCCTCCGCCCGCGGCAGTCCCGGGCCCGGGTCCAGGGCCTAAGCAGGGCCCAGGTCCGGGTGGTCCCAAAGGCGGC
AAAATGCCTGGCGGGCCGAAGCCAGGTGGCGGCCCGGGCCTAAGTACGCCTGGCGGCCACCCCAAGCCGCCGCATCGAGGCGGCGGGGAGCCCCGCGGGGGCCGC
CAGCACCACCCGCCCTACCACCAGCAGCATCACCAGGGGCCCCCGCCCGGCGGGCCCGGCGGCCGCAGCGAGGAGAAGATCTCGGACTCGGAGGGGTTTAAAGCC
AATTTGTCTCTCTTGAGGAGGCCTGGAGAGAAAACTTACACACAGCGATGTCGGTTGTTTGTTGGGAATCTACCTGCTGATATCACGGAGGATGAATTCAAAAGA
CTATTTGCTAAATATGGAGAACCAGGAGAAGTTTTTATCAACAAAGGCAAAGGATTCGGATTTATTAAGCTTGAATCTAGAGCTTTGGCTGAAATTGCCAAAGCC
GAACTGGATGATACACCCATGAGAGGTAGACAGCTTCGAGTTCGCTTTGCCACACATGCTGCTGCCCTTTCTGTTCGTAATCTTTCACCTTATGTTTCCAATGAA
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>SFPQ|6421|protein
MSRDRFRSRGGGGGGFHRRGGGGGRGGLHDFRSPPPGMGLNQNRGPMGPGPGQSGPKPPIPPPPPHQQQQQPPPQQPPPQQPPPHQPPPHPQPHQQQQPPPPPQD
SSKPVVAQGPGPAPGVGSAPPASSSAPPATPPTSGAPPGSGPGPTPTPPPAVTSAPPGAPPPTPPSSGVPTTPPQAGGPPPPPAAVPGPGPGPKQGPGPGGPKGG
KMPGGPKPGGGPGLSTPGGHPKPPHRGGGEPRGGRQHHPPYHQQHHQGPPPGGPGGRSEEKISDSEGFKANLSLLRRPGEKTYTQRCRLFVGNLPADITEDEFKR
LFAKYGEPGEVFINKGKGFGFIKLESRALAEIAKAELDDTPMRGRQLRVRFATHAAALSVRNLSPYVSNELLEEAFSQFGPIERAVVIVDDRGRSTGKGIVEFAS
KPAARKAFERCSEGVFLLTTTPRPVIVEPLEQLDDEDGLPEKLAQKNPMYQKERETPPRFAQHGTFEYEYSQRWKSLDEMEKQQREQVEKNMKDAKDKLESEMED
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top