Evidence Details for GRINL1A
Basic Information Top
| Gene Symbol: | GRINL1A ( DKFZp586F1918 ) |
|---|---|
| Gene Full Name: | glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A |
| Band: | 15q22.1 |
| Quick Links | Entrez ID:81488; OMIM: 606485; Uniprot ID:GCOM1_HUMAN; ENSEMBL ID: ENSG00000137878; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>GRINL1A|81488|nucleotide
ATGTGCTCGCTGCCCCGCGGCTTCGAGCCCCAAGCTCCCGAGGACTTGGCGCAGCGGAGTTTGGTGGAGCTGCGGGAAATGTTGAAGCGCCAGGAGAGACTTTTG
CGCAACGAGTTACAGAGGATCACCATTGCGGACCAAGGTGAACAACAGTCAGAAGAAAACGCAAGTACTAAGAACTTGACAGGCCTTTCCAGTGGGACTGAGAAG
AAACCTCATTACATGGAAGTGCTAGAAATGCGAGCCAAAAACCCAGTGCCCCAGCTGCGTAAATTTAAAACCAATGTGTTACCTTTTCGACAAAATGATTCATCT
AGTCATTGCCAGAAGAGTGGGTCTCCTATTTCCTCAGAAGAGCGGCGGCGCAGGGATAAGCAGCATCTTGATGACATCACAGCAGCTCGGCTTCTACCACTTCAC
CATATGCCCACGCAGCTGCTCTCCATAGAAGAATCCTTGGCACTTCAGAAACAGCAGAAACAGAATTATGAGGAGATGCAAGCAAAGCTCGCAGCGCAAAAATTA
GCTGAAAGACTGAATATTAAAATGCGGAGTTATAATCCAGAAGGGGAGTCTTCAGGGAGATACCGAGAAGTAAGGGATGAAGATGACGATTGGTCCTCTGATGAA
TTCTGA
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ATGTGCTCGCTGCCCCGCGGCTTCGAGCCCCAAGCTCCCGAGGACTTGGCGCAGCGGAGTTTGGTGGAGCTGCGGGAAATGTTGAAGCGCCAGGAGAGACTTTTG
CGCAACGAGTTACAGAGGATCACCATTGCGGACCAAGGTGAACAACAGTCAGAAGAAAACGCAAGTACTAAGAACTTGACAGGCCTTTCCAGTGGGACTGAGAAG
AAACCTCATTACATGGAAGTGCTAGAAATGCGAGCCAAAAACCCAGTGCCCCAGCTGCGTAAATTTAAAACCAATGTGTTACCTTTTCGACAAAATGATTCATCT
AGTCATTGCCAGAAGAGTGGGTCTCCTATTTCCTCAGAAGAGCGGCGGCGCAGGGATAAGCAGCATCTTGATGACATCACAGCAGCTCGGCTTCTACCACTTCAC
CATATGCCCACGCAGCTGCTCTCCATAGAAGAATCCTTGGCACTTCAGAAACAGCAGAAACAGAATTATGAGGAGATGCAAGCAAAGCTCGCAGCGCAAAAATTA
GCTGAAAGACTGAATATTAAAATGCGGAGTTATAATCCAGAAGGGGAGTCTTCAGGGAGATACCGAGAAGTAAGGGATGAAGATGACGATTGGTCCTCTGATGAA
TTCTGA
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>GRINL1A|81488|protein
MCSLPRGFEPQAPEDLAQRSLVELREMLKRQERLLRNELQRITIADQGEQQSEENASTKNLTGLSSGTEKKPHYMEVLEMRAKNPVPQLRKFKTNVLPFRQNDSS
SHCQKSGSPISSEERRRRDKQHLDDITAARLLPLHHMPTQLLSIEESLALQKQQKQNYEEMQAKLAAQKLAERLNIKMRSYNPEGESSGRYREVRDEDDDWSSDE
F
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MCSLPRGFEPQAPEDLAQRSLVELREMLKRQERLLRNELQRITIADQGEQQSEENASTKNLTGLSSGTEKKPHYMEVLEMRAKNPVPQLRKFKTNVLPFRQNDSS
SHCQKSGSPISSEERRRRDKQHLDDITAARLLPLHHMPTQLLSIEESLALQKQQKQNYEEMQAKLAAQKLAERLNIKMRSYNPEGESSGRYREVRDEDDDWSSDE
F
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Evidence summary Top
Click 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) | 1 (2) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV 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 |
| Berkel, 2010 | Canada | SNP microarray | ![]() | ![]() | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | ![]() | ![]() | autism | - | - | - | - | 12 | 44 | 56 |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | ![]() | ![]() | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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