AutismKB 2.0

Evidence Details for SP3


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Basic Information Top
Gene Symbol:SP3 ( DKFZp686O1631,SPR2 )
Gene Full Name: Sp3 transcription factor
Band: 2q31.1
Quick LinksEntrez ID:6670; OMIM: 601804; Uniprot ID:SP3_HUMAN; ENSEMBL ID: ENSG00000172845; HGNC ID: 11208
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SP3|6670|nucleotide
ATAGGGCCGCCATCGCCGGGCGACGACGAGGAGGAGGCGGCCGCCGCAGCCGGGGCCCCCGCCGCCGCCGGAGCGACAGGTGATTTGGCTTCTGCACAGTTAGGA
GGAGCACCAAACCGATGGGAGGTTTTGTCAGCCACACCTACAACTATAAAAGATGAAGCTGGTAATCTAGTCCAGATTCCAAGTGCTGCTACTTCAAGTGGGCAG
TATGTTCTTCCCCTTCAGAATTTGCAGAATCAACAAATATTTTCCGTTGCACCAGGATCAGATTCATCAAATGGTACAGTGTCCAGTGTTCAATATCAAGTGATA
CCACAGATCCAGTCAGCAGATGGTCAGCAGGTTCAAATTGGTTTCACAGGCTCTTCAGATAATGGGGGTATAAATCAAGAAAGCAGTCAAATTCAGATCATTCCT
GGCTCTAATCAAACCTTACTTGCCTCTGGAACACCTTCTGCTAACATCCAGAATCTCATACCACAGACTGGTCAAGTCCAGGTTCAGGGAGTTGCAATTGGTGGT
TCATCTTTTCCTGGTCAAACCCAAGTAGTTGCTAATGTGCCTCTTGGTCTGCCAGGAAATATTACGTTTGTACCAATCAATAGTGTCGATCTAGATTCTTTGGGA
CTCTCGGGCAGTTCTCAGACAATGACTGCAGGCATTAATGCCGACGGACATTTGATAAACACAGGACAAGCTATGGATAGTTCAGACAATTCAGAAAGGACTGGT
GAGCGGGTTTCTCCTGATATTAATGAAACTAATACTGATACAGATTTATTTGTGCCAACATCCTCTTCATCACAGTTGCCTGTTACGATAGATAGTACAGGTATA
TTACAACAAAACACAAATAGCTTGACTACATCTAGTGGGCAGGTTCATTCTTCAGATCTTCAGGGAAATTATATCCAGTCGCCTGTTTCTGAAGAGACACAGGCA
CAGAATATTCAGGTTTCTACAGCACAGCCTGTTGTACAGCATCTACAACTTCAAGAGTCTCAGCAGCCAACCAGTCAAGCCCAAATTGTGCAAGGTATTACACCA
CAGACAATCCATGGTGTGCAAGCCAGTGGTCAAAATATATCACAACAGGCTTTGCAAAATCTTCAGTTGCAGCTGAATCCTGGAACCTTTTTAATTCAGGCACAG
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>SP3|6670|protein
MGPPSPGDDEEEAAAAAGAPAAAGATGDLASAQLGGAPNRWEVLSATPTTIKDEAGNLVQIPSAATSSGQYVLPLQNLQNQQIFSVAPGSDSSNGTVSSVQYQVI
PQIQSADGQQVQIGFTGSSDNGGINQESSQIQIIPGSNQTLLASGTPSANIQNLIPQTGQVQVQGVAIGGSSFPGQTQVVANVPLGLPGNITFVPINSVDLDSLG
LSGSSQTMTAGINADGHLINTGQAMDSSDNSERTGERVSPDINETNTDTDLFVPTSSSSQLPVTIDSTGILQQNTNSLTTSSGQVHSSDLQGNYIQSPVSEETQA
QNIQVSTAQPVVQHLQLQESQQPTSQAQIVQGITPQTIHGVQASGQNISQQALQNLQLQLNPGTFLIQAQTVTPSGQVTWQTFQVQGVQNLQNLQIQNTAAQQIT
LTPVQTLTLGQVAAGGAFTSTPVSLSTGQLPNLQTVTVNSIDSAGIQLHPGENADSPADIRIKEEEPDPEEWQLSGDSTLNTNDLTHLRVQVVDEEGDQQHQEGK
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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) 2 (4) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top