Evidence Details for GNL2
Basic Information Top
| Gene Symbol: | GNL2 ( FLJ40906,HUMAUANTIG,NGP1,Ngp-1 ) |
|---|---|
| Gene Full Name: | guanine nucleotide binding protein-like 2 (nucleolar) |
| Band: | 1p34.3 |
| Quick Links | Entrez ID:29889; OMIM: 609365; Uniprot ID:NOG2_HUMAN; ENSEMBL ID: ENSG00000134697; HGNC ID: 29925 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>GNL2|29889|nucleotide
ATGGTGAAGCCCAAGTACAAAGGACGGAGCACCATCAACCCGTCCAAGGCCAGCACAAACCCAGATCGAGTGCAGGGAGCAGGAGGCCAAAACATGAGGGACCGG
GCCACCATCCGGCGCCTGAATATGTATAGGCAAAAGGAGCGCAGGAACAGTCGTGGTAAAATAATTAAACCCCTGCAATATCAATCAACGGTGGCTTCTGGCACA
GTGGCAAGAGTAGAGCCAAATATTAAATGGTTTGGAAACACACGTGTGATTAAGCAGTCATCATTACAAAAATTTCAAGAGGAAATGGATACAGTTATGAAGGAT
CCATACAAAGTTGTCATGAAGCAAAGCAAGTTACCAATGTCTCTTCTCCATGATCGAATCCGGCCTCATAACTTGAAGGTGCACATTCTTGATACTGAAAGTTTT
GAAACTACATTTGGCCCTAAGTCACAGAGGAAACGACCAAACTTATTTGCAAGTGATATGCAGTCTCTTATCGAAAATGCTGAAATGTCCACTGAGAGCTATGAC
CAGGGCAAGGATCGTGATTTGGTAACTGAAGACACTGGTGTGAGAAATGAAGCTCAAGAAGAGATCTATAAAAAGGGACAGTCCAAAAGAATATGGGGTGAGCTC
TACAAGGTGATAGATTCATCAGATGTTGTAGTTCAAGTTCTTGATGCTAGAGATCCAATGGGTACTCGTTCCCCTCACATTGAAACTTACCTGAAGAAGGAAAAA
CCTTGGAAACACCTCATTTTTGTACTTAACAAATGTGACCTTGTTCCAACCTGGGCAACAAAACGGTGGGTTGCTGTCCTCTCCCAGGATTATCCAACACTTGCT
TTCCATGCAAGCCTTACTAACCCGTTTGGCAAGGGAGCATTCATTCAGCTTCTGCGGCAGTTTGGAAAGTTGCACACTGACAAGAAACAGATCAGTGTTGGGTTC
ATTGGCTATCCAAATGTTGGCAAGAGCTCTGTGATAAATACATTGCGTTCTAAGAAAGTTTGCAACGTGGCTCCCATTGCAGGTGAAACAAAGGTCTGGCAGTAT
ATTACTTTGATGCGTCGGATATTCCTGATTGACTGTCCAGGTGTGGTTTACCCCTCTGAGGACTCCGAGACAGACATTGTGCTAAAAGGAGTTGTTCAAGTAGAA
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ATGGTGAAGCCCAAGTACAAAGGACGGAGCACCATCAACCCGTCCAAGGCCAGCACAAACCCAGATCGAGTGCAGGGAGCAGGAGGCCAAAACATGAGGGACCGG
GCCACCATCCGGCGCCTGAATATGTATAGGCAAAAGGAGCGCAGGAACAGTCGTGGTAAAATAATTAAACCCCTGCAATATCAATCAACGGTGGCTTCTGGCACA
GTGGCAAGAGTAGAGCCAAATATTAAATGGTTTGGAAACACACGTGTGATTAAGCAGTCATCATTACAAAAATTTCAAGAGGAAATGGATACAGTTATGAAGGAT
CCATACAAAGTTGTCATGAAGCAAAGCAAGTTACCAATGTCTCTTCTCCATGATCGAATCCGGCCTCATAACTTGAAGGTGCACATTCTTGATACTGAAAGTTTT
GAAACTACATTTGGCCCTAAGTCACAGAGGAAACGACCAAACTTATTTGCAAGTGATATGCAGTCTCTTATCGAAAATGCTGAAATGTCCACTGAGAGCTATGAC
CAGGGCAAGGATCGTGATTTGGTAACTGAAGACACTGGTGTGAGAAATGAAGCTCAAGAAGAGATCTATAAAAAGGGACAGTCCAAAAGAATATGGGGTGAGCTC
TACAAGGTGATAGATTCATCAGATGTTGTAGTTCAAGTTCTTGATGCTAGAGATCCAATGGGTACTCGTTCCCCTCACATTGAAACTTACCTGAAGAAGGAAAAA
CCTTGGAAACACCTCATTTTTGTACTTAACAAATGTGACCTTGTTCCAACCTGGGCAACAAAACGGTGGGTTGCTGTCCTCTCCCAGGATTATCCAACACTTGCT
TTCCATGCAAGCCTTACTAACCCGTTTGGCAAGGGAGCATTCATTCAGCTTCTGCGGCAGTTTGGAAAGTTGCACACTGACAAGAAACAGATCAGTGTTGGGTTC
ATTGGCTATCCAAATGTTGGCAAGAGCTCTGTGATAAATACATTGCGTTCTAAGAAAGTTTGCAACGTGGCTCCCATTGCAGGTGAAACAAAGGTCTGGCAGTAT
ATTACTTTGATGCGTCGGATATTCCTGATTGACTGTCCAGGTGTGGTTTACCCCTCTGAGGACTCCGAGACAGACATTGTGCTAAAAGGAGTTGTTCAAGTAGAA
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>GNL2|29889|protein
MVKPKYKGRSTINPSKASTNPDRVQGAGGQNMRDRATIRRLNMYRQKERRNSRGKIIKPLQYQSTVASGTVARVEPNIKWFGNTRVIKQSSLQKFQEEMDTVMKD
PYKVVMKQSKLPMSLLHDRIRPHNLKVHILDTESFETTFGPKSQRKRPNLFASDMQSLIENAEMSTESYDQGKDRDLVTEDTGVRNEAQEEIYKKGQSKRIWGEL
YKVIDSSDVVVQVLDARDPMGTRSPHIETYLKKEKPWKHLIFVLNKCDLVPTWATKRWVAVLSQDYPTLAFHASLTNPFGKGAFIQLLRQFGKLHTDKKQISVGF
IGYPNVGKSSVINTLRSKKVCNVAPIAGETKVWQYITLMRRIFLIDCPGVVYPSEDSETDIVLKGVVQVEKIKSPEDHIGAVLERAKPEYISKTYKIDSWENAED
FLEKLAFRTGKLLKGGEPDLQTVGKMVLNDWQRGRIPFFVKPPNAEPLVAPQLLPSSSLEVVPEAAQNNPGEEVTETAGEGSESIIKEETEENSHCDANTEMQQI
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MVKPKYKGRSTINPSKASTNPDRVQGAGGQNMRDRATIRRLNMYRQKERRNSRGKIIKPLQYQSTVASGTVARVEPNIKWFGNTRVIKQSSLQKFQEEMDTVMKD
PYKVVMKQSKLPMSLLHDRIRPHNLKVHILDTESFETTFGPKSQRKRPNLFASDMQSLIENAEMSTESYDQGKDRDLVTEDTGVRNEAQEEIYKKGQSKRIWGEL
YKVIDSSDVVVQVLDARDPMGTRSPHIETYLKKEKPWKHLIFVLNKCDLVPTWATKRWVAVLSQDYPTLAFHASLTNPFGKGAFIQLLRQFGKLHTDKKQISVGF
IGYPNVGKSSVINTLRSKKVCNVAPIAGETKVWQYITLMRRIFLIDCPGVVYPSEDSETDIVLKGVVQVEKIKSPEDHIGAVLERAKPEYISKTYKIDSWENAED
FLEKLAFRTGKLLKGGEPDLQTVGKMVLNDWQRGRIPFFVKPPNAEPLVAPQLLPSSSLEVVPEAAQNNPGEEVTETAGEGSESIIKEETEENSHCDANTEMQQI
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | (0) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Turner TN, 2017 | - | Illumina X Ten | - | - | - | 476 | 476 | - | 2064 | Sanger sequencing |
Low Scale Gene Studies Top
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