Evidence Details for NRL
Basic Information Top
| Gene Symbol: | NRL ( D14S46E,NRL-MAF,RP27 ) |
|---|---|
| Gene Full Name: | neural retina leucine zipper |
| Band: | 14q11.2-q12 |
| Quick Links | Entrez ID:4901; OMIM: 162080; Uniprot ID:NRL_HUMAN; ENSEMBL ID: ENSG00000129535; HGNC ID: 8002 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NRL|4901|nucleotide
ATGGCCCTGCCCCCCAGCCCCCTGGCCATGGAATATGTCAATGACTTTGACTTGATGAAGTTTGAGGTAAAGCGGGAACCCTCTGAGGGCCGACCTGGCCCCCCT
ACAGCCTCACTGGGCTCCACACCTTACAGCTCAGTGCCTCCTTCACCCACCTTCAGTGAACCAGGCATGGTGGGGGCAACCGAGGGCACCCGGCCAGGCCTGGAG
GAGCTGTACTGGCTGGCTACCCTGCAGCAGCAGCTGGGGGCTGGGGAGGCATTGGGGCTGAGTCCTGAAGAGGCCATGGAGCTGCTGCAGGGTCAGGGCCCAGTC
CCTGTTGATGGGCCCCATGGCTACTACCCAGGGAGCCCAGAGGAGACAGGAGCCCAGCACGTCCAGCTGGCAGAGCGGTTTTCCGACGCGGCGCTGGTCTCGATG
TCTGTGCGGGAGCTAAACCGGCAGCTGCGGGGCTGCGGGCGCGACGAGGCGCTGCGGCTGAAGCAGAGGCGCCGCACGCTGAAGAACCGCGGCTACGCGCAGGCC
TGTCGCTCCAAGCGGCTGCAGCAGCGGCGCGGGCTGGAGGCCGAGCGCGCCCGCCTGGCCGCCCAGCTGGACGCGCTGCGGGCCGAGGTGGCCCGCCTGGCCCGG
GAGCGCGATCTCTACAAGGCTCGCTGTGACCGGCTAACCTCGAGCGGCCCCGGGTCCGGGGACCCCTCCCACCTCTTCCTCTGA
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ATGGCCCTGCCCCCCAGCCCCCTGGCCATGGAATATGTCAATGACTTTGACTTGATGAAGTTTGAGGTAAAGCGGGAACCCTCTGAGGGCCGACCTGGCCCCCCT
ACAGCCTCACTGGGCTCCACACCTTACAGCTCAGTGCCTCCTTCACCCACCTTCAGTGAACCAGGCATGGTGGGGGCAACCGAGGGCACCCGGCCAGGCCTGGAG
GAGCTGTACTGGCTGGCTACCCTGCAGCAGCAGCTGGGGGCTGGGGAGGCATTGGGGCTGAGTCCTGAAGAGGCCATGGAGCTGCTGCAGGGTCAGGGCCCAGTC
CCTGTTGATGGGCCCCATGGCTACTACCCAGGGAGCCCAGAGGAGACAGGAGCCCAGCACGTCCAGCTGGCAGAGCGGTTTTCCGACGCGGCGCTGGTCTCGATG
TCTGTGCGGGAGCTAAACCGGCAGCTGCGGGGCTGCGGGCGCGACGAGGCGCTGCGGCTGAAGCAGAGGCGCCGCACGCTGAAGAACCGCGGCTACGCGCAGGCC
TGTCGCTCCAAGCGGCTGCAGCAGCGGCGCGGGCTGGAGGCCGAGCGCGCCCGCCTGGCCGCCCAGCTGGACGCGCTGCGGGCCGAGGTGGCCCGCCTGGCCCGG
GAGCGCGATCTCTACAAGGCTCGCTGTGACCGGCTAACCTCGAGCGGCCCCGGGTCCGGGGACCCCTCCCACCTCTTCCTCTGA
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>NRL|4901|protein
MALPPSPLAMEYVNDFDLMKFEVKREPSEGRPGPPTASLGSTPYSSVPPSPTFSEPGMVGATEGTRPGLEELYWLATLQQQLGAGEALGLSPEEAMELLQGQGPV
PVDGPHGYYPGSPEETGAQHVQLAERFSDAALVSMSVRELNRQLRGCGRDEALRLKQRRRTLKNRGYAQACRSKRLQQRRGLEAERARLAAQLDALRAEVARLAR
ERDLYKARCDRLTSSGPGSGDPSHLFL
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MALPPSPLAMEYVNDFDLMKFEVKREPSEGRPGPPTASLGSTPYSSVPPSPTFSEPGMVGATEGTRPGLEELYWLATLQQQLGAGEALGLSPEEAMELLQGQGPV
PVDGPHGYYPGSPEETGAQHVQLAERFSDAALVSMSVRELNRQLRGCGRDEALRLKQRRRTLKNRGYAQACRSKRLQQRRGLEAERARLAAQLDALRAEVARLAR
ERDLYKARCDRLTSSGPGSGDPSHLFL
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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 (0) | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen |  | | PDD | 99 | - | 99 | - | - | - | - |
| Auranen, 2002 | Finland | microsatellite-based genomic screen |  | | autism | 19 | - | 19 | - | 54 | - | - |
| Ma, 2007 | USA | SNP-based genomic screen | | | autism | 26 | - | 26 | - | - | - | - |
Low 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.