Evidence Details for ROBO2
Basic Information Top
| Gene Symbol: | ROBO2 ( KIAA1568,SAX3 ) |
|---|---|
| Gene Full Name: | roundabout, axon guidance receptor, homolog 2 (Drosophila) |
| Band: | 3p12.3 |
| Quick Links | Entrez ID:6092; OMIM: 602431; Uniprot ID:ROBO2_HUMAN; ENSEMBL ID: ENSG00000185008; HGNC ID: 10250 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ROBO2|6092|nucleotide
ATGGCCAGAAGACATGAACGTGTCACTAGAAGGATGTGGACATGGGCTCCGGGACTGTTGATGATGACTGTGGTGTTTTGGGGTCATCAGGGGAATGGACAAGGC
CAAGGATCGCGTCTTCGCCAGGAGGACTTTCCCCCGCGGATTGTGGAGCATCCTTCCGATGTCATCGTCTCTAAGGGCGAGCCCACGACTCTGAACTGCAAGGCG
GAGGGCCGGCCAACGCCCACCATTGAGTGGTACAAAGATGGGGAGCGAGTGGAGACTGACAAGGACGATCCCCGGTCCCACAGGATGCTTCTGCCCAGCGGATCC
TTATTCTTCTTGCGCATCGTGCACGGGCGCAGGAGTAAACCTGATGAAGGAAGCTACGTTTGTGTTGCGAGGAACTATCTTGGTGAAGCAGTGAGTCGAAATGCG
TCTCTGGAAGTGGCATTGTTACGAGATGACTTCCGACAAAACCCCACAGATGTTGTAGTGGCAGCTGGAGAGCCTGCAATCCTGGAGTGCCAGCCTCCCCGGGGA
CACCCAGAACCCACCATCTACTGGAAAAAAGACAAAGTTCGAATTGATGACAAGGAAGAAAGAATAAGTATCCGTGGTGGAAAACTGATGATCTCCAATACCAGG
AAAAGTGATGCAGGGATGTATACTTGTGTTGGTACCAATATGGTGGGAGAAAGGGACAGTGACCCAGCAGAGCTGACTGTCTTTGAACGACCCACATTTCTCAGG
AGGCCAATTAACCAGGTGGTACTGGAGGAAGAAGCTGTAGAATTTCGTTGTCAAGTCCAAGGAGATCCTCAACCAACTGTGAGGTGGAAAAAGGATGATGCAGAC
TTGCCAAGAGGAAGGTATGACATCAAAGACGATTACACACTAAGAATTAAAAAGACCATGAGTACAGATGAAGGCACCTATATGTGTATTGCTGAGAATCGGGTT
GGAAAAATGGAAGCCTCTGCTACACTCACCGTCCGAGCTCCCCCACAGTTTGTGGTTCGGCCAAGAGATCAGATTGTTGCTCAAGGTCGAACAGTGACATTTCCC
TGTGAAACTAAAGGAAACCCACAGCCAGCTGTTTTTTGGCAGAAAGAAGGCAGCCAGAACCTACTTTTCCCAAACCAACCCCAGCAGCCCAACAGTAGATGCTCA
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ATGGCCAGAAGACATGAACGTGTCACTAGAAGGATGTGGACATGGGCTCCGGGACTGTTGATGATGACTGTGGTGTTTTGGGGTCATCAGGGGAATGGACAAGGC
CAAGGATCGCGTCTTCGCCAGGAGGACTTTCCCCCGCGGATTGTGGAGCATCCTTCCGATGTCATCGTCTCTAAGGGCGAGCCCACGACTCTGAACTGCAAGGCG
GAGGGCCGGCCAACGCCCACCATTGAGTGGTACAAAGATGGGGAGCGAGTGGAGACTGACAAGGACGATCCCCGGTCCCACAGGATGCTTCTGCCCAGCGGATCC
TTATTCTTCTTGCGCATCGTGCACGGGCGCAGGAGTAAACCTGATGAAGGAAGCTACGTTTGTGTTGCGAGGAACTATCTTGGTGAAGCAGTGAGTCGAAATGCG
TCTCTGGAAGTGGCATTGTTACGAGATGACTTCCGACAAAACCCCACAGATGTTGTAGTGGCAGCTGGAGAGCCTGCAATCCTGGAGTGCCAGCCTCCCCGGGGA
CACCCAGAACCCACCATCTACTGGAAAAAAGACAAAGTTCGAATTGATGACAAGGAAGAAAGAATAAGTATCCGTGGTGGAAAACTGATGATCTCCAATACCAGG
AAAAGTGATGCAGGGATGTATACTTGTGTTGGTACCAATATGGTGGGAGAAAGGGACAGTGACCCAGCAGAGCTGACTGTCTTTGAACGACCCACATTTCTCAGG
AGGCCAATTAACCAGGTGGTACTGGAGGAAGAAGCTGTAGAATTTCGTTGTCAAGTCCAAGGAGATCCTCAACCAACTGTGAGGTGGAAAAAGGATGATGCAGAC
TTGCCAAGAGGAAGGTATGACATCAAAGACGATTACACACTAAGAATTAAAAAGACCATGAGTACAGATGAAGGCACCTATATGTGTATTGCTGAGAATCGGGTT
GGAAAAATGGAAGCCTCTGCTACACTCACCGTCCGAGCTCCCCCACAGTTTGTGGTTCGGCCAAGAGATCAGATTGTTGCTCAAGGTCGAACAGTGACATTTCCC
TGTGAAACTAAAGGAAACCCACAGCCAGCTGTTTTTTGGCAGAAAGAAGGCAGCCAGAACCTACTTTTCCCAAACCAACCCCAGCAGCCCAACAGTAGATGCTCA
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>ROBO2|6092|protein
MARRHERVTRRMWTWAPGLLMMTVVFWGHQGNGQGQGSRLRQEDFPPRIVEHPSDVIVSKGEPTTLNCKAEGRPTPTIEWYKDGERVETDKDDPRSHRMLLPSGS
LFFLRIVHGRRSKPDEGSYVCVARNYLGEAVSRNASLEVALLRDDFRQNPTDVVVAAGEPAILECQPPRGHPEPTIYWKKDKVRIDDKEERISIRGGKLMISNTR
KSDAGMYTCVGTNMVGERDSDPAELTVFERPTFLRRPINQVVLEEEAVEFRCQVQGDPQPTVRWKKDDADLPRGRYDIKDDYTLRIKKTMSTDEGTYMCIAENRV
GKMEASATLTVRAPPQFVVRPRDQIVAQGRTVTFPCETKGNPQPAVFWQKEGSQNLLFPNQPQQPNSRCSVSPTGDLTITNIQRSDAGYYICQALTVAGSILAKA
QLEVTDVLTDRPPPIILQGPANQTLAVDGTALLKCKATGDPLPVISWLKEGFTFPGRDPRATIQEQGTLQIKNLRISDTGTYTCVATSSSGETSWSAVLDVTESG
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MARRHERVTRRMWTWAPGLLMMTVVFWGHQGNGQGQGSRLRQEDFPPRIVEHPSDVIVSKGEPTTLNCKAEGRPTPTIEWYKDGERVETDKDDPRSHRMLLPSGS
LFFLRIVHGRRSKPDEGSYVCVARNYLGEAVSRNASLEVALLRDDFRQNPTDVVVAAGEPAILECQPPRGHPEPTIYWKKDKVRIDDKEERISIRGGKLMISNTR
KSDAGMYTCVGTNMVGERDSDPAELTVFERPTFLRRPINQVVLEEEAVEFRCQVQGDPQPTVRWKKDDADLPRGRYDIKDDYTLRIKKTMSTDEGTYMCIAENRV
GKMEASATLTVRAPPQFVVRPRDQIVAQGRTVTFPCETKGNPQPAVFWQKEGSQNLLFPNQPQQPNSRCSVSPTGDLTITNIQRSDAGYYICQALTVAGSILAKA
QLEVTDVLTDRPPPIILQGPANQTLAVDGTALLKCKATGDPLPVISWLKEGFTFPGRDPRATIQEQGTLQIKNLRISDTGTYTCVATSSSGETSWSAVLDVTESG
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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) | 0 (0) | 1 (1) | 0 (0) | 0 (2) | 0 (0) | 0 (1) | 0 (0) | 2 (5) |
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 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) |
|||||
| MIXED/OTHERS | ||||||||||
| St Pourcain B, 2014_1 | Unknown | high-density SNP arrays | - | 19708 (-) | - | - | - | - - |
- - | |
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 Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Redin C, 2017 | 28 | - | 34 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
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.