Evidence Details for CDC42EP1
Basic Information Top
| Gene Symbol: | CDC42EP1 ( BORG5,CEP1,MGC15316,MSE55 ) |
|---|---|
| Gene Full Name: | CDC42 effector protein (Rho GTPase binding) 1 |
| Band: | 22q13.1 |
| Quick Links | Entrez ID:11135; OMIM: 606084; Uniprot ID:BORG5_HUMAN; ENSEMBL ID: ENSG00000128283; HGNC ID: 17014 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CDC42EP1|11135|nucleotide
ATGCCCGGCCCCCAGGGGGGCAGAGGCGCCGCCACCATGAGCCTGGGCAAGCTCTCGCCTGTGGGCTGGGTGTCCAGTTCACAGGGAAAGAGGCGGCTGACTGCA
GACATGATCAGCCACCCACTCGGGGACTTCCGCCACACCATGCATGTGGGCCGTGGCGGGGATGTCTTCGGGGACACGTCCTTCCTCAGCAACCACGGTGGCAGC
TCCGGGAGCACCCATCGCTCACCCCGCAGCTTCCTGGCCAAGAAGCTGCAGCTGGTGCGGAGGGTGGGGGCGCCCCCCCGGAGGATGGCATCTCCCCCTGCACCC
TCCCCGGCTCCACCGGCCATCTCCCCCATCATCAAGAACGCCATCTCCCTGCCCCAGCTCAACCAGGCCGCCTACGACAGCCTCGTGGTTGGCAAGCTCAGCTTC
GACAGCAGCCCCACCAGCTCCACGGACGGCCACTCCAGCTACGGCCTGGACTCTGGGTTCTGCACCATCTCCCGCCTGCCCCGCTCGGAAAAGCCGCATGACCGA
GACCGGGATGGTTCCTTCCCCTCTGAGCCCGGGCTTCGCCGCTCTGACTCTCTCTTGTCCTTCCGCCTGGACCTCGACCTTGGGCCCTCACTCCTCAGCGAGCTG
CTAGGGGTCATGAGCCTCCCAGAAGCCCCTGCAGCTGAGACTCCAGCCCCCGCTGCAAACCCCCCAGCCCCTACTGCAAACCCCACGGGTCCTGCTGCAAACCCC
CCAGCCACTACTGCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGCCGCAACCCCCACGGGTCCTGCTGCAAATCCCCCAGCCCCTGCCGCAAGCTCC
ACACCCCATGGACACTGTCCCAATGGGGTAACAGCTGGGTTGGGCCCAGTGGCTGAGGTGAAGTCCAGCCCAGTGGGAGGGGGTCCCCGAGGACCTGCTGGCCCT
GCCCTCGGCAGGCACTGGGGAGCAGGCTGGGATGGCGGCCACCACTACCCAGAGATGGATGCGCGGCAGGAGCGGGTGGAGGTGCTGCCCCAAGCCCGGGCCTCC
TGGGAGAGCCTGGACGAAGAGTGGAGGGCGCCCCAGGCAGGCAGCAGGACCCCAGTGCCCAGCACAGTGCAAGCAAACACCTTTGAATTTGCGGATGCTGAGGAG
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ATGCCCGGCCCCCAGGGGGGCAGAGGCGCCGCCACCATGAGCCTGGGCAAGCTCTCGCCTGTGGGCTGGGTGTCCAGTTCACAGGGAAAGAGGCGGCTGACTGCA
GACATGATCAGCCACCCACTCGGGGACTTCCGCCACACCATGCATGTGGGCCGTGGCGGGGATGTCTTCGGGGACACGTCCTTCCTCAGCAACCACGGTGGCAGC
TCCGGGAGCACCCATCGCTCACCCCGCAGCTTCCTGGCCAAGAAGCTGCAGCTGGTGCGGAGGGTGGGGGCGCCCCCCCGGAGGATGGCATCTCCCCCTGCACCC
TCCCCGGCTCCACCGGCCATCTCCCCCATCATCAAGAACGCCATCTCCCTGCCCCAGCTCAACCAGGCCGCCTACGACAGCCTCGTGGTTGGCAAGCTCAGCTTC
GACAGCAGCCCCACCAGCTCCACGGACGGCCACTCCAGCTACGGCCTGGACTCTGGGTTCTGCACCATCTCCCGCCTGCCCCGCTCGGAAAAGCCGCATGACCGA
GACCGGGATGGTTCCTTCCCCTCTGAGCCCGGGCTTCGCCGCTCTGACTCTCTCTTGTCCTTCCGCCTGGACCTCGACCTTGGGCCCTCACTCCTCAGCGAGCTG
CTAGGGGTCATGAGCCTCCCAGAAGCCCCTGCAGCTGAGACTCCAGCCCCCGCTGCAAACCCCCCAGCCCCTACTGCAAACCCCACGGGTCCTGCTGCAAACCCC
CCAGCCACTACTGCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGCCGCAACCCCCACGGGTCCTGCTGCAAATCCCCCAGCCCCTGCCGCAAGCTCC
ACACCCCATGGACACTGTCCCAATGGGGTAACAGCTGGGTTGGGCCCAGTGGCTGAGGTGAAGTCCAGCCCAGTGGGAGGGGGTCCCCGAGGACCTGCTGGCCCT
GCCCTCGGCAGGCACTGGGGAGCAGGCTGGGATGGCGGCCACCACTACCCAGAGATGGATGCGCGGCAGGAGCGGGTGGAGGTGCTGCCCCAAGCCCGGGCCTCC
TGGGAGAGCCTGGACGAAGAGTGGAGGGCGCCCCAGGCAGGCAGCAGGACCCCAGTGCCCAGCACAGTGCAAGCAAACACCTTTGAATTTGCGGATGCTGAGGAG
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>CDC42EP1|11135|protein
MPGPQGGRGAATMSLGKLSPVGWVSSSQGKRRLTADMISHPLGDFRHTMHVGRGGDVFGDTSFLSNHGGSSGSTHRSPRSFLAKKLQLVRRVGAPPRRMASPPAP
SPAPPAISPIIKNAISLPQLNQAAYDSLVVGKLSFDSSPTSSTDGHSSYGLDSGFCTISRLPRSEKPHDRDRDGSFPSEPGLRRSDSLLSFRLDLDLGPSLLSEL
LGVMSLPEAPAAETPAPAANPPAPTANPTGPAANPPATTANPPAPAANPSAPAATPTGPAANPPAPAASSTPHGHCPNGVTAGLGPVAEVKSSPVGGGPRGPAGP
ALGRHWGAGWDGGHHYPEMDARQERVEVLPQARASWESLDEEWRAPQAGSRTPVPSTVQANTFEFADAEEDDEVKV
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MPGPQGGRGAATMSLGKLSPVGWVSSSQGKRRLTADMISHPLGDFRHTMHVGRGGDVFGDTSFLSNHGGSSGSTHRSPRSFLAKKLQLVRRVGAPPRRMASPPAP
SPAPPAISPIIKNAISLPQLNQAAYDSLVVGKLSFDSSPTSSTDGHSSYGLDSGFCTISRLPRSEKPHDRDRDGSFPSEPGLRRSDSLLSFRLDLDLGPSLLSEL
LGVMSLPEAPAAETPAPAANPPAPTANPTGPAANPPATTANPPAPAANPSAPAATPTGPAANPPAPAASSTPHGHCPNGVTAGLGPVAEVKSSPVGGGPRGPAGP
ALGRHWGAGWDGGHHYPEMDARQERVEVLPQARASWESLDEEWRAPQAGSRTPVPSTVQANTFEFADAEEDDEVKV
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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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
Linkage Studies Top