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 Top