Evidence Details for GRINL1A


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 |


>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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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) |






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 |


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 |












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