Evidence Details for RGL1
Basic Information Top
| Gene Symbol: | RGL1 ( KIAA0959,RGL ) |
|---|---|
| Gene Full Name: | ral guanine nucleotide dissociation stimulator-like 1 |
| Band: | 1q25.3 |
| Quick Links | Entrez ID:23179; OMIM: 605667; Uniprot ID:RGL1_HUMAN; ENSEMBL ID: ENSG00000143344; HGNC ID: 30281 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RGL1|23179|nucleotide
ATGGAGGTGAAACCTGTGGGAGAACCTACTCAAGAGGTGTCTAAATTCAAACTTTCCACCAAGGTAGAAAGCACGGGACACTGGCTGGTGGAAGATCATGTTCGA
ATATGGGAAGTTTTAAAGACAGAGGAGAGCTCGATTCAGGACTGGGGTGAAGAGGTAGAGGAAGGAGCTGTTTACCATGTCACCCTCAAAAGAGTCCAGATTCAA
CAGGCTGCCAATAAAGGAGCAAGATGGCTAGGGGTTGAAGGGGACCAGCTGCCTCCAGGACACACAGTCAGTCAATATGAAACCTGTAAGATCAGGACCATAAAA
GCTGGCACCTTGGAGAAGCTTGTGGAGAACCTGCTGACAGCTTTTGGGGACAATGACTTTACCTATATCAGCATCTTTCTTTCAACGTACAGAGGCTTTGCCTCC
ACTAAAGAAGTGCTGGAACTACTGCTGGACAGGTATGGAAACCTGACAAGCCCAAACTGTGAAGAAGATGGAAGCCAAAGTTCATCAGAGTCCAAAATGGTGATC
AGGAATGCAATCGCTTCCATACTAAGGGCCTGGCTTGACCAGTGTGCAGAAGACTTCCGAGAGCCCCCTCACTTCCCTTGCTTACAGAAACTGCTGGATTATCTC
ACACGGATGATGCCGGGCTCTGACCCAGAAAGAAGAGCACAAAATCTTCTTGAGCAGTTTCAGAAGCAAGAAGTGGAAACTGACAATGGGCTTCCCAACACGATC
TCCTTCAGCCTGGAAGAGGAAGAGGAACTGGAGGGTGGAGAGTCAGCAGAATTCACGTGCTTCTCAGAAGATCTCGTGGCAGAGCAGCTGACCTACATGGATGCA
CAACTCTTCAAGAAAGTAGTGCCTCACCACTGCCTGGGCTGCATTTGGTCTCGAAGGGATAAGAAGGAAAACAAACATTTGGCTCCTACGATCCGTGCCACCATC
TCTCAGTTTAATACCCTCACCAAATGTGTTGTCAGCACCATCCTGGGGGGCAAAGAACTCAAAACTCAGCAGAGAGCCAAAATCATTGAGAAGTGGATCAACATC
GCTCATGAATGTAGACTCCTGAAGAATTTTTCCTCCTTGAGGGCCATCGTTTCGGCACTGCAGTCTAATTCCATCTATCGGTTAAAAAAGACTTGGGCTGCCGTC
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ATGGAGGTGAAACCTGTGGGAGAACCTACTCAAGAGGTGTCTAAATTCAAACTTTCCACCAAGGTAGAAAGCACGGGACACTGGCTGGTGGAAGATCATGTTCGA
ATATGGGAAGTTTTAAAGACAGAGGAGAGCTCGATTCAGGACTGGGGTGAAGAGGTAGAGGAAGGAGCTGTTTACCATGTCACCCTCAAAAGAGTCCAGATTCAA
CAGGCTGCCAATAAAGGAGCAAGATGGCTAGGGGTTGAAGGGGACCAGCTGCCTCCAGGACACACAGTCAGTCAATATGAAACCTGTAAGATCAGGACCATAAAA
GCTGGCACCTTGGAGAAGCTTGTGGAGAACCTGCTGACAGCTTTTGGGGACAATGACTTTACCTATATCAGCATCTTTCTTTCAACGTACAGAGGCTTTGCCTCC
ACTAAAGAAGTGCTGGAACTACTGCTGGACAGGTATGGAAACCTGACAAGCCCAAACTGTGAAGAAGATGGAAGCCAAAGTTCATCAGAGTCCAAAATGGTGATC
AGGAATGCAATCGCTTCCATACTAAGGGCCTGGCTTGACCAGTGTGCAGAAGACTTCCGAGAGCCCCCTCACTTCCCTTGCTTACAGAAACTGCTGGATTATCTC
ACACGGATGATGCCGGGCTCTGACCCAGAAAGAAGAGCACAAAATCTTCTTGAGCAGTTTCAGAAGCAAGAAGTGGAAACTGACAATGGGCTTCCCAACACGATC
TCCTTCAGCCTGGAAGAGGAAGAGGAACTGGAGGGTGGAGAGTCAGCAGAATTCACGTGCTTCTCAGAAGATCTCGTGGCAGAGCAGCTGACCTACATGGATGCA
CAACTCTTCAAGAAAGTAGTGCCTCACCACTGCCTGGGCTGCATTTGGTCTCGAAGGGATAAGAAGGAAAACAAACATTTGGCTCCTACGATCCGTGCCACCATC
TCTCAGTTTAATACCCTCACCAAATGTGTTGTCAGCACCATCCTGGGGGGCAAAGAACTCAAAACTCAGCAGAGAGCCAAAATCATTGAGAAGTGGATCAACATC
GCTCATGAATGTAGACTCCTGAAGAATTTTTCCTCCTTGAGGGCCATCGTTTCGGCACTGCAGTCTAATTCCATCTATCGGTTAAAAAAGACTTGGGCTGCCGTC
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>RGL1|23179|protein
MEVKPVGEPTQEVSKFKLSTKVESTGHWLVEDHVRIWEVLKTEESSIQDWGEEVEEGAVYHVTLKRVQIQQAANKGARWLGVEGDQLPPGHTVSQYETCKIRTIK
AGTLEKLVENLLTAFGDNDFTYISIFLSTYRGFASTKEVLELLLDRYGNLTSPNCEEDGSQSSSESKMVIRNAIASILRAWLDQCAEDFREPPHFPCLQKLLDYL
TRMMPGSDPERRAQNLLEQFQKQEVETDNGLPNTISFSLEEEEELEGGESAEFTCFSEDLVAEQLTYMDAQLFKKVVPHHCLGCIWSRRDKKENKHLAPTIRATI
SQFNTLTKCVVSTILGGKELKTQQRAKIIEKWINIAHECRLLKNFSSLRAIVSALQSNSIYRLKKTWAAVPRDRMLMFEELSDIFSDHNNHLTSRELLMKEGTSK
FANLDSSVKENQKRTQRRLQLQKDMGVMQGTVPYLGTFLTDLTMLDTALQDYIEGGLINFEKRRREFEVIAQIKLLQSACNSYCMTPDQKFIQWFQRQQLLTEEE
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MEVKPVGEPTQEVSKFKLSTKVESTGHWLVEDHVRIWEVLKTEESSIQDWGEEVEEGAVYHVTLKRVQIQQAANKGARWLGVEGDQLPPGHTVSQYETCKIRTIK
AGTLEKLVENLLTAFGDNDFTYISIFLSTYRGFASTKEVLELLLDRYGNLTSPNCEEDGSQSSSESKMVIRNAIASILRAWLDQCAEDFREPPHFPCLQKLLDYL
TRMMPGSDPERRAQNLLEQFQKQEVETDNGLPNTISFSLEEEEELEGGESAEFTCFSEDLVAEQLTYMDAQLFKKVVPHHCLGCIWSRRDKKENKHLAPTIRATI
SQFNTLTKCVVSTILGGKELKTQQRAKIIEKWINIAHECRLLKNFSSLRAIVSALQSNSIYRLKKTWAAVPRDRMLMFEELSDIFSDHNNHLTSRELLMKEGTSK
FANLDSSVKENQKRTQRRLQLQKDMGVMQGTVPYLGTFLTDLTMLDTALQDYIEGGLINFEKRRREFEVIAQIKLLQSACNSYCMTPDQKFIQWFQRQQLLTEEE
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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 (3) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) | | | AS | - (3-21) |
- >70 | ||
| 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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top 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.