Evidence Details for CFP
Basic Information Top
| Gene Symbol: | CFP ( BFD,PFC,PFD,PROPERDIN ) |
|---|---|
| Gene Full Name: | complement factor properdin |
| Band: | Xp11.23 |
| Quick Links | Entrez ID:5199; OMIM: 300383; Uniprot ID:PROP_HUMAN; ENSEMBL ID: ENSG00000126759; HGNC ID: 8864 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CFP|5199|nucleotide
ATGATCACAGAGGGAGCGCAGGCCCCTCGATTGTTGCTGCCGCCGCTGCTCCTGCTGCTCACCCTGCCAGCCACAGGCTCAGACCCCGTGCTCTGCTTCACCCAG
TATGAAGAATCCTCCGGCAAGTGCAAGGGCCTCCTGGGGGGTGGTGTCAGCGTGGAAGACTGCTGTCTCAACACTGCCTTTGCCTACCAGAAACGTAGTGGTGGG
CTCTGTCAGCCTTGCAGGTCCCCACGATGGTCCCTGTGGTCCACATGGGCCCCCTGTTCGGTGACGTGCTCTGAGGGCTCCCAGCTGCGGTACCGGCGCTGTGTG
GGCTGGAATGGGCAGTGCTCTGGAAAGGTGGCACCTGGGACCCTGGAGTGGCAGCTCCAGGCCTGTGAGGACCAGCAGTGCTGTCCTGAGATGGGCGGCTGGTCT
GGCTGGGGGCCCTGGGAGCCTTGCTCTGTCACCTGCTCCAAAGGGACCCGGACCCGCAGGCGAGCCTGTAATCACCCTGCTCCCAAGTGTGGGGGCCACTGCCCA
GGACAGGCACAGGAATCAGAGGCCTGTGACACCCAGCAGGTCTGCCCCACACACGGGGCCTGGGCCACCTGGGGCCCCTGGACCCCCTGCTCAGCCTCCTGCCAC
GGTGGACCCCACGAACCTAAGGAGACACGAAGCCGCAAGTGTTCTGCACCTGAGCCCTCCCAGAAACCTCCTGGGAAGCCCTGCCCGGGGCTAGCCTACGAGCAG
CGGAGGTGCACCGGCCTGCCACCCTGCCCAGTGGCTGGGGGCTGGGGGCCTTGGGGCCCTGTGAGCCCCTGCCCTGTGACCTGTGGCCTGGGCCAGACCATGGAA
CAACGGACGTGCAATCACCCTGTGCCCCAGCATGGGGGCCCCTTCTGTGCTGGCGATGCCACCCGGACCCACATCTGCAACACAGCTGTGCCCTGCCCTGTGGAT
GGGGAGTGGGACTCGTGGGGGGAGTGGAGCCCCTGTATCCGACGGAACATGAAGTCCATCAGCTGTCAAGAAATCCCGGGCCAGCAGTCACGCGGGAGGACCTGC
AGGGGCCGCAAGTTTGACGGACATCGATGTGCCGGGCAACAGCAGGATATCCGGCACTGCTACAGCATCCAGCACTGCCCCTTGAAAGGATCATGGTCAGAGTGG
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ATGATCACAGAGGGAGCGCAGGCCCCTCGATTGTTGCTGCCGCCGCTGCTCCTGCTGCTCACCCTGCCAGCCACAGGCTCAGACCCCGTGCTCTGCTTCACCCAG
TATGAAGAATCCTCCGGCAAGTGCAAGGGCCTCCTGGGGGGTGGTGTCAGCGTGGAAGACTGCTGTCTCAACACTGCCTTTGCCTACCAGAAACGTAGTGGTGGG
CTCTGTCAGCCTTGCAGGTCCCCACGATGGTCCCTGTGGTCCACATGGGCCCCCTGTTCGGTGACGTGCTCTGAGGGCTCCCAGCTGCGGTACCGGCGCTGTGTG
GGCTGGAATGGGCAGTGCTCTGGAAAGGTGGCACCTGGGACCCTGGAGTGGCAGCTCCAGGCCTGTGAGGACCAGCAGTGCTGTCCTGAGATGGGCGGCTGGTCT
GGCTGGGGGCCCTGGGAGCCTTGCTCTGTCACCTGCTCCAAAGGGACCCGGACCCGCAGGCGAGCCTGTAATCACCCTGCTCCCAAGTGTGGGGGCCACTGCCCA
GGACAGGCACAGGAATCAGAGGCCTGTGACACCCAGCAGGTCTGCCCCACACACGGGGCCTGGGCCACCTGGGGCCCCTGGACCCCCTGCTCAGCCTCCTGCCAC
GGTGGACCCCACGAACCTAAGGAGACACGAAGCCGCAAGTGTTCTGCACCTGAGCCCTCCCAGAAACCTCCTGGGAAGCCCTGCCCGGGGCTAGCCTACGAGCAG
CGGAGGTGCACCGGCCTGCCACCCTGCCCAGTGGCTGGGGGCTGGGGGCCTTGGGGCCCTGTGAGCCCCTGCCCTGTGACCTGTGGCCTGGGCCAGACCATGGAA
CAACGGACGTGCAATCACCCTGTGCCCCAGCATGGGGGCCCCTTCTGTGCTGGCGATGCCACCCGGACCCACATCTGCAACACAGCTGTGCCCTGCCCTGTGGAT
GGGGAGTGGGACTCGTGGGGGGAGTGGAGCCCCTGTATCCGACGGAACATGAAGTCCATCAGCTGTCAAGAAATCCCGGGCCAGCAGTCACGCGGGAGGACCTGC
AGGGGCCGCAAGTTTGACGGACATCGATGTGCCGGGCAACAGCAGGATATCCGGCACTGCTACAGCATCCAGCACTGCCCCTTGAAAGGATCATGGTCAGAGTGG
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>CFP|5199|protein
MITEGAQAPRLLLPPLLLLLTLPATGSDPVLCFTQYEESSGKCKGLLGGGVSVEDCCLNTAFAYQKRSGGLCQPCRSPRWSLWSTWAPCSVTCSEGSQLRYRRCV
GWNGQCSGKVAPGTLEWQLQACEDQQCCPEMGGWSGWGPWEPCSVTCSKGTRTRRRACNHPAPKCGGHCPGQAQESEACDTQQVCPTHGAWATWGPWTPCSASCH
GGPHEPKETRSRKCSAPEPSQKPPGKPCPGLAYEQRRCTGLPPCPVAGGWGPWGPVSPCPVTCGLGQTMEQRTCNHPVPQHGGPFCAGDATRTHICNTAVPCPVD
GEWDSWGEWSPCIRRNMKSISCQEIPGQQSRGRTCRGRKFDGHRCAGQQQDIRHCYSIQHCPLKGSWSEWSTWGLCMPPCGPNPTRARQRLCTPLLPKYPPTVSM
VEGQGEKNVTFWGRPLPRCEELQGQKLVVEEKRPCLHVPACKDPEEEEL
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MITEGAQAPRLLLPPLLLLLTLPATGSDPVLCFTQYEESSGKCKGLLGGGVSVEDCCLNTAFAYQKRSGGLCQPCRSPRWSLWSTWAPCSVTCSEGSQLRYRRCV
GWNGQCSGKVAPGTLEWQLQACEDQQCCPEMGGWSGWGPWEPCSVTCSKGTRTRRRACNHPAPKCGGHCPGQAQESEACDTQQVCPTHGAWATWGPWTPCSASCH
GGPHEPKETRSRKCSAPEPSQKPPGKPCPGLAYEQRRCTGLPPCPVAGGWGPWGPVSPCPVTCGLGQTMEQRTCNHPVPQHGGPFCAGDATRTHICNTAVPCPVD
GEWDSWGEWSPCIRRNMKSISCQEIPGQQSRGRTCRGRKFDGHRCAGQQQDIRHCYSIQHCPLKGSWSEWSTWGLCMPPCGPNPTRARQRLCTPLLPKYPPTVSM
VEGQGEKNVTFWGRPLPRCEELQGQKLVVEEKRPCLHVPACKDPEEEEL
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Edens, 2011 | Austria | FISH, aCGH |  |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top