AutismKB 2.0

Evidence Details for SP7


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Basic Information Top
Gene Symbol:SP7 ( MGC126598,OSX,osterix )
Gene Full Name: Sp7 transcription factor
Band: 12q13.13
Quick LinksEntrez ID:121340; OMIM: 606633; Uniprot ID:SP7_HUMAN; ENSEMBL ID: ENSG00000170374; HGNC ID: 17321
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SP7|121340|nucleotide
ATGGCGTCCTCCCTGCTTGAGGAGGAAGTTCACTATGGCTCCAGTCCCCTGGCCATGCTGACGGCAGCGTGCAGCAAATTTGGTGGCTCTAGCCCTCTGCGGGAC
TCAACAACTCTGGGCAAAGCAGGCACAAAGAAGCCGTACTCTGTGGGCAGTGACCTTTCAGCCTCCAAAACCATGGGGGATGCTTATCCAGCCCCCTTTACAAGC
ACTAATGGGCTCCTTTCACCTGCAGGCAGTCCTCCAGCACCCACCTCAGGCTATGCTAATGATTACCCTCCCTTTTCCCACTCATTCCCTGGGCCCACAGGCACC
CAGGACCCTGGGCTACTAGTGCCCAAGGGGCACAGCTCTTCTGACTGTCTGCCCAGTGTCTACACCTCTCTGGACATGACACACCCCTATGGCTCCTGGTACAAG
GCAGGCATCCATGCAGGCATTTCACCAGGCCCAGGCAACACTCCTACTCCATGGTGGGATATGCACCCTGGAGGCAACTGGCTAGGTGGTGGGCAGGGCCAGGGT
GATGGGCTGCAAGGGACACTGCCCACAGGTCCAGCTCAGCCTCCACTGAACCCCCAGCTGCCCACCTACCCATCTGACTTTGCTCCCCTTAATCCAGCCCCCTAC
CCAGCTCCCCACCTCTTGCAACCAGGGCCCCAGCATGTCTTGCCCCAAGATGTCTATAAACCCAAGGCAGTGGGAAATAGTGGGCAGCTAGAAGGGAGTGGTGGA
GCCAAACCCCCACGGGGTGCAAGCACTGGGGGTAGTGGTGGATATGGGGGCAGTGGGGCAGGGCGCTCCTCCTGCGACTGCCCTAATTGCCAGGAGCTAGAGCGG
CTGGGAGCAGCAGCGGCTGGGCTGCGGAAGAAGCCCATCCACAGCTGCCACATCCCTGGCTGCGGCAAGGTGTATGGCAAGGCTTCGCACCTGAAGGCCCACTTG
CGCTGGCACACAGGCGAGAGGCCCTTCGTCTGCAACTGGCTCTTCTGCGGCAAGAGGTTCACTCGTTCGGATGAGCTGGAGCGTCATGTGCGCACTCACACCCGG
GAGAAGAAGTTCACCTGCCTGCTCTGCTCCAAGCGCTTTACCCGAAGCGACCACCTGAGCAAACACCAGCGCACCCATGGAGAACCAGGCCCGGGTCCCCCTCCC
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>SP7|121340|protein
MASSLLEEEVHYGSSPLAMLTAACSKFGGSSPLRDSTTLGKAGTKKPYSVGSDLSASKTMGDAYPAPFTSTNGLLSPAGSPPAPTSGYANDYPPFSHSFPGPTGT
QDPGLLVPKGHSSSDCLPSVYTSLDMTHPYGSWYKAGIHAGISPGPGNTPTPWWDMHPGGNWLGGGQGQGDGLQGTLPTGPAQPPLNPQLPTYPSDFAPLNPAPY
PAPHLLQPGPQHVLPQDVYKPKAVGNSGQLEGSGGAKPPRGASTGGSGGYGGSGAGRSSCDCPNCQELERLGAAAAGLRKKPIHSCHIPGCGKVYGKASHLKAHL
RWHTGERPFVCNWLFCGKRFTRSDELERHVRTHTREKKFTCLLCSKRFTRSDHLSKHQRTHGEPGPGPPPSGPKELGEGRSTGEEEASQTPRPSASPATPEKAPG
GSPEQSNLLEI
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top