Evidence Details for ROBO3
Basic Information Top
| Gene Symbol: | ROBO3 ( FLJ21044,HGPPS,HGPS,RBIG1,RIG1 ) |
|---|---|
| Gene Full Name: | roundabout, axon guidance receptor, homolog 3 (Drosophila) |
| Band: | 11q24.2 |
| Quick Links | Entrez ID:64221; OMIM: 608630; Uniprot ID:ROBO3_HUMAN; ENSEMBL ID: ENSG00000154134; HGNC ID: 13433 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ROBO3|64221|nucleotide
ATGCTGCGCTACCTGCTGAAAACGCTGCTGCAGATGAACTTGTTCGCGGACTCTCTGGCCGGGGACATCTCCAACTCCAGCGAGCTGCTCTTGGGCTTCAACTCC
TCGCTGGCGGCGCTCAACCACACCCTGCTGCCTCCCGGCGATCCCTCTCTCAACGGGTCAAGGGTAGGACCGGAGGACGCTATGCCCCGCATCGTGGAGCAGCCG
CCAGATCTGCTGGTCTCCCGAGGCGAGCCCGCCACGTTGCCCTGCCGCGCTGAAGGCCGACCCCGACCCAACATTGAGTGGTACAAGAACGGGGCGCGTGTGGCC
ACTGTGCGGGAGGATCCGCGTGCGCACCGCCTGCTGCTGCCCAGCGGCGCCCTCTTCTTCCCGCGCATCGTGCACGGGCGCCGCGCGCGGCCGGACGAAGGTGTC
TACACTTGCGTGGCTCGCAACTACCTGGGGGCAGCAGCGAGCAGAAACGCCTCGCTGGAAGTGGCAGTCCTCCGTGATGATTTCCGGCAGTCTCCTGGAAACGTG
GTGGTGGCAGTGGGGGAGCCAGCAGTACTGGAATGCGTGCCCCCCCGCGGCCACCCGGAGCCTTCCGTGTCCTGGAGGAAGGACGGTGCAAGACTCAAGGAAGAG
GAAGGAAGGATCACGATCCGTGGAGGGAAGCTGATGATGTCACATACACTCAAGAGCGATGCAGGCATGTATGTGTGCGTAGCCTCCAACATGGCGGGAGAACGG
GAGAGTGCGGCAGCTGAAGTCATGGTACTGGAGCGTCCCTCATTCCTGCGCAGACCAGTGAATCAGGTGGTCCTGGCTGATGCCCCTGTGACTTTCCTATGTGAG
GTGAAGGGGGATCCCCCACCTCGTCTACGCTGGCGCAAGGAGGATGGGGAACTGCCCACAGGCAGGTATGAGATCCGGAGTGACCACAGCCTTTGGATTGGGCAT
GTGAGTGCCGAAGATGAGGGAACGTACACCTGTGTGGCGGAGAACAGTGTGGGCCGCGCTGAAGCATCTGGCTCCCTCAGTGTTCACGTCCCACCCCAGTTGGTG
ACCCAGCCCCAGGACCAGATGGCAGCTCCTGGAGAGAGCGTGGCTTTCCAGTGCGAGACCAAAGGAAACCCCCCACCTGCCATCTTCTGGCAGAAGGAGGGGAGT
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ATGCTGCGCTACCTGCTGAAAACGCTGCTGCAGATGAACTTGTTCGCGGACTCTCTGGCCGGGGACATCTCCAACTCCAGCGAGCTGCTCTTGGGCTTCAACTCC
TCGCTGGCGGCGCTCAACCACACCCTGCTGCCTCCCGGCGATCCCTCTCTCAACGGGTCAAGGGTAGGACCGGAGGACGCTATGCCCCGCATCGTGGAGCAGCCG
CCAGATCTGCTGGTCTCCCGAGGCGAGCCCGCCACGTTGCCCTGCCGCGCTGAAGGCCGACCCCGACCCAACATTGAGTGGTACAAGAACGGGGCGCGTGTGGCC
ACTGTGCGGGAGGATCCGCGTGCGCACCGCCTGCTGCTGCCCAGCGGCGCCCTCTTCTTCCCGCGCATCGTGCACGGGCGCCGCGCGCGGCCGGACGAAGGTGTC
TACACTTGCGTGGCTCGCAACTACCTGGGGGCAGCAGCGAGCAGAAACGCCTCGCTGGAAGTGGCAGTCCTCCGTGATGATTTCCGGCAGTCTCCTGGAAACGTG
GTGGTGGCAGTGGGGGAGCCAGCAGTACTGGAATGCGTGCCCCCCCGCGGCCACCCGGAGCCTTCCGTGTCCTGGAGGAAGGACGGTGCAAGACTCAAGGAAGAG
GAAGGAAGGATCACGATCCGTGGAGGGAAGCTGATGATGTCACATACACTCAAGAGCGATGCAGGCATGTATGTGTGCGTAGCCTCCAACATGGCGGGAGAACGG
GAGAGTGCGGCAGCTGAAGTCATGGTACTGGAGCGTCCCTCATTCCTGCGCAGACCAGTGAATCAGGTGGTCCTGGCTGATGCCCCTGTGACTTTCCTATGTGAG
GTGAAGGGGGATCCCCCACCTCGTCTACGCTGGCGCAAGGAGGATGGGGAACTGCCCACAGGCAGGTATGAGATCCGGAGTGACCACAGCCTTTGGATTGGGCAT
GTGAGTGCCGAAGATGAGGGAACGTACACCTGTGTGGCGGAGAACAGTGTGGGCCGCGCTGAAGCATCTGGCTCCCTCAGTGTTCACGTCCCACCCCAGTTGGTG
ACCCAGCCCCAGGACCAGATGGCAGCTCCTGGAGAGAGCGTGGCTTTCCAGTGCGAGACCAAAGGAAACCCCCCACCTGCCATCTTCTGGCAGAAGGAGGGGAGT
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>ROBO3|64221|protein
MLRYLLKTLLQMNLFADSLAGDISNSSELLLGFNSSLAALNHTLLPPGDPSLNGSRVGPEDAMPRIVEQPPDLLVSRGEPATLPCRAEGRPRPNIEWYKNGARVA
TVREDPRAHRLLLPSGALFFPRIVHGRRARPDEGVYTCVARNYLGAAASRNASLEVAVLRDDFRQSPGNVVVAVGEPAVLECVPPRGHPEPSVSWRKDGARLKEE
EGRITIRGGKLMMSHTLKSDAGMYVCVASNMAGERESAAAEVMVLERPSFLRRPVNQVVLADAPVTFLCEVKGDPPPRLRWRKEDGELPTGRYEIRSDHSLWIGH
VSAEDEGTYTCVAENSVGRAEASGSLSVHVPPQLVTQPQDQMAAPGESVAFQCETKGNPPPAIFWQKEGSQVLLFPSQSLQPTGRFSVSPRGQLNITAVQRGDAG
YYVCQAVSVAGSILAKALLEIKGASLDGLPPVILQGPANQTLVLGSSVWLPCRVTGNPQPSVRWKKDGQWLQGDDLQFKTMANGTLYIANVQEMDMGFYSCVAKS
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MLRYLLKTLLQMNLFADSLAGDISNSSELLLGFNSSLAALNHTLLPPGDPSLNGSRVGPEDAMPRIVEQPPDLLVSRGEPATLPCRAEGRPRPNIEWYKNGARVA
TVREDPRAHRLLLPSGALFFPRIVHGRRARPDEGVYTCVARNYLGAAASRNASLEVAVLRDDFRQSPGNVVVAVGEPAVLECVPPRGHPEPSVSWRKDGARLKEE
EGRITIRGGKLMMSHTLKSDAGMYVCVASNMAGERESAAAEVMVLERPSFLRRPVNQVVLADAPVTFLCEVKGDPPPRLRWRKEDGELPTGRYEIRSDHSLWIGH
VSAEDEGTYTCVAENSVGRAEASGSLSVHVPPQLVTQPQDQMAAPGESVAFQCETKGNPPPAIFWQKEGSQVLLFPSQSLQPTGRFSVSPRGQLNITAVQRGDAG
YYVCQAVSVAGSILAKALLEIKGASLDGLPPVILQGPANQTLVLGSSVWLPCRVTGNPQPSVRWKKDGQWLQGDDLQFKTMANGTLYIANVQEMDMGFYSCVAKS
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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) | 0 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (3) |
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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Anitha, 2008_1 | AGRE | TaqMan assay method, ABI PRISM 7900HT Sequence Detection System, SDS v2.0 software | 252 | 252 (0.00%) | | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.