Evidence Details for CDC42EP4
Basic Information Top
| Gene Symbol: | CDC42EP4 ( BORG4,CEP4,KAIA1777,MGC17125,MGC3740 ) |
|---|---|
| Gene Full Name: | CDC42 effector protein (Rho GTPase binding) 4 |
| Band: | 17q25.1 |
| Quick Links | Entrez ID:23580; OMIM: 605468; Uniprot ID:BORG4_HUMAN; ENSEMBL ID: ENSG00000179604; HGNC ID: 17147 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CDC42EP4|23580|nucleotide
ATGCCAATCCTCAAGCAACTGGTGTCCAGCTCGGTGCACTCCAAGCGCCGTTCCCGAGCGGACCTCACGGCCGAGATGATCAGCGCCCCGCTGGGCGACTTCCGC
CACACCATGCACGTTGGCCGGGCCGGAGACGCCTTTGGGGACACCTCCTTCCTCAATAGCAAGGCTGGCGAGCCCGACGGCGAGTCCTTGGACGAACAGCCCTCT
TCTTCATCTTCCAAACGCAGTCTCCTGTCCAGGAAGTTCCGGGGCAGCAAGCGGTCACAGTCGGTGACCAGGGGGGAGCGGGAGCAGCGTGACATGCTGGGCTCC
CTGCGGGACTCGGCCCTGTTTGTCAAGAATGCCATGTCCCTGCCCCAGCTCAATGAGAAGGAGGCCGCGGAGAAGGGCACCAGTAAGCTGCCCAAGAGCCTGTCA
TCCAGCCCCGTGAAGAAGGCCAATGACGGGGAGGGCGGCGATGAGGAGGCGGGCACGGAGGAGGCAGTGCCCCGTCGGAATGGGGCCGCGGGTCCACATTCCCCT
GACCCCCTCCTCGATGAGCAGGCCTTTGGGGATCTGACAGATCTGCCTGTCGTGCCCAAGGCCACGTACGGGCTGAAGCATGCGGAGTCCATCATGTCCTTCCAC
ATCGACCTGGGGCCCTCCATGCTGGGTGACGTCCTCAGCATCATGGACAAGGAGGAGTGGGACCCCGAGGAGGGGGAGGGTGGTTACCATGGCGATGAGGGCGCC
GCTGGCACCATCACCCAGGCTCCCCCGTACGCCGTGGCGGCCCCTCCCCTGGCAAGGCAGGAAGGCAAGGCTGGCCCAGACTTGCCCTCCCTCCCCTCCCATGCT
CTGGAGGATGAGGGGTGGGCAGCAGCGGCCCCCAGCCCCGGCTCAGCCCGCAGCATGGGCAGCCACACCACACGGGACAGCAGCTCCCTCTCCAGCTGCACCTCA
GGCATCCTGGAGGAGCGCAGCCCTGCCTTCCGGGGGCCGGACAGGGCCCGGGCTGCTGTCTCAAGACAGCCAGACAAGGAGTTCTCCTTCATGGATGAGGAGGAG
GAGGATGAAATCCGTGTGTGA
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ATGCCAATCCTCAAGCAACTGGTGTCCAGCTCGGTGCACTCCAAGCGCCGTTCCCGAGCGGACCTCACGGCCGAGATGATCAGCGCCCCGCTGGGCGACTTCCGC
CACACCATGCACGTTGGCCGGGCCGGAGACGCCTTTGGGGACACCTCCTTCCTCAATAGCAAGGCTGGCGAGCCCGACGGCGAGTCCTTGGACGAACAGCCCTCT
TCTTCATCTTCCAAACGCAGTCTCCTGTCCAGGAAGTTCCGGGGCAGCAAGCGGTCACAGTCGGTGACCAGGGGGGAGCGGGAGCAGCGTGACATGCTGGGCTCC
CTGCGGGACTCGGCCCTGTTTGTCAAGAATGCCATGTCCCTGCCCCAGCTCAATGAGAAGGAGGCCGCGGAGAAGGGCACCAGTAAGCTGCCCAAGAGCCTGTCA
TCCAGCCCCGTGAAGAAGGCCAATGACGGGGAGGGCGGCGATGAGGAGGCGGGCACGGAGGAGGCAGTGCCCCGTCGGAATGGGGCCGCGGGTCCACATTCCCCT
GACCCCCTCCTCGATGAGCAGGCCTTTGGGGATCTGACAGATCTGCCTGTCGTGCCCAAGGCCACGTACGGGCTGAAGCATGCGGAGTCCATCATGTCCTTCCAC
ATCGACCTGGGGCCCTCCATGCTGGGTGACGTCCTCAGCATCATGGACAAGGAGGAGTGGGACCCCGAGGAGGGGGAGGGTGGTTACCATGGCGATGAGGGCGCC
GCTGGCACCATCACCCAGGCTCCCCCGTACGCCGTGGCGGCCCCTCCCCTGGCAAGGCAGGAAGGCAAGGCTGGCCCAGACTTGCCCTCCCTCCCCTCCCATGCT
CTGGAGGATGAGGGGTGGGCAGCAGCGGCCCCCAGCCCCGGCTCAGCCCGCAGCATGGGCAGCCACACCACACGGGACAGCAGCTCCCTCTCCAGCTGCACCTCA
GGCATCCTGGAGGAGCGCAGCCCTGCCTTCCGGGGGCCGGACAGGGCCCGGGCTGCTGTCTCAAGACAGCCAGACAAGGAGTTCTCCTTCATGGATGAGGAGGAG
GAGGATGAAATCCGTGTGTGA
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>CDC42EP4|23580|protein
MPILKQLVSSSVHSKRRSRADLTAEMISAPLGDFRHTMHVGRAGDAFGDTSFLNSKAGEPDGESLDEQPSSSSSKRSLLSRKFRGSKRSQSVTRGEREQRDMLGS
LRDSALFVKNAMSLPQLNEKEAAEKGTSKLPKSLSSSPVKKANDGEGGDEEAGTEEAVPRRNGAAGPHSPDPLLDEQAFGDLTDLPVVPKATYGLKHAESIMSFH
IDLGPSMLGDVLSIMDKEEWDPEEGEGGYHGDEGAAGTITQAPPYAVAAPPLARQEGKAGPDLPSLPSHALEDEGWAAAAPSPGSARSMGSHTTRDSSSLSSCTS
GILEERSPAFRGPDRARAAVSRQPDKEFSFMDEEEEDEIRV
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MPILKQLVSSSVHSKRRSRADLTAEMISAPLGDFRHTMHVGRAGDAFGDTSFLNSKAGEPDGESLDEQPSSSSSKRSLLSRKFRGSKRSQSVTRGEREQRDMLGS
LRDSALFVKNAMSLPQLNEKEAAEKGTSKLPKSLSSSPVKKANDGEGGDEEAGTEEAVPRRNGAAGPHSPDPLLDEQAFGDLTDLPVVPKATYGLKHAESIMSFH
IDLGPSMLGDVLSIMDKEEWDPEEGEGGYHGDEGAAGTITQAPPYAVAAPPLARQEGKAGPDLPSLPSHALEDEGWAAAAPSPGSARSMGSHTTRDSSSLSSCTS
GILEERSPAFRGPDRARAAVSRQPDKEFSFMDEEEEDEIRV
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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 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top