Evidence Details for NPRL3
Basic Information Top
| Gene Symbol: | NPRL3 ( C16orf35,CGTHBA,HS-40,MARE,NPR3,RMD11 ) |
|---|---|
| Gene Full Name: | nitrogen permease regulator-like 3 (S. cerevisiae) |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:8131; OMIM: 600928; Uniprot ID:NPRL3_HUMAN; ENSEMBL ID: ENSG00000103148; HGNC ID: 14124 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NPRL3|8131|nucleotide
ATGGCTGATGGAAATGAAGGTCCTCAGTCCCCATTCCATCACATCCTGCCCAAGTGCAAGCTGGCCAGGGACCTCAAGGAAGCTTATGACAGCCTGTGCACGTCG
GGCGTAGTTCGGCTTCACATCAACAGCTGGCTGGAGGTGAGCTTCTGCCTGCCCCACAAGATCCACTATGCGGCCTCCAGTCTGATCCCCCCAGAGGCCATCGAA
CGGAGCCTGAAAGCCATCCGCCCCTACCATGCCCTGCTGCTGCTCAGTGATGAGAAGTCCTTGCTGGGTGAGCTTCCTATTGACTGCTCCCCTGCCCTAGTGCGG
GTGATCAAGACCACATCTGCTGTGAAGAACCTGCAGCAGCTAGCCCAAGATGCGGACCTGGCCTTGCTGCAGGTTTTCCAGCTTGCAGCTCATCTGGTGTACTGG
GGCAAGGCCATCATCATCTACCCGCTGTGTGAGAACAACGTCTACATGCTGTCTCCCAATGCCAGCGTATGTCTGTACTCCCCGCTGGCCGAGCAGTTCTCCCAC
CAGTTCCCATCTCATGACCTGCCGTCCGTTCTTGCCAAGTTCTCCTTGCCGGTCTCCTTGTCAGAATTTAGGAATCCCCTGGCCCCCGCTGTGCAGGAGACCCAG
CTCATCCAGATGGTGGTGTGGATGCTGCAGCGCCGGCTTCTCATCCAGCTGCACACCTATGTCTGCCTGATGGCCTCACCCAGCGAGGAGGAGCCCCGTCCGCGA
GAGGACGACGTCCCCTTCACTGCCCGGGTCGGCGGTCGCAGCCTCAGCACGCCCAACGCCCTCAGCTTTGGCTCCCCAACCAGCAGCGATGACATGACCCTCACC
AGCCCCAGCATGGACAACTCCAGCGCAGAGCTACTTCCCAGCGGGGACTCGCCACTGAACCAGAGGATGACGGAGAACCTGCTGGCCAGCCTGTCGGAGCATGAA
CGCGCAGCCATCCTCAGTGTACCCGCAGCCCAGAACCCTGAGGACCTCCGCATGTTTGCCAGGCTCCTTCACTACTTCCGCGGCCGCCACCACCTGGAGGAGATT
ATGTACAACGAGAACACGCGGCGCTCCCAGCTGCTCATGCTGTTTGACAAGTTCCGCAGCGTGCTGGTGGTGACCACCCACGAGGACCCTGTCATTGCCGTCTTC
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ATGGCTGATGGAAATGAAGGTCCTCAGTCCCCATTCCATCACATCCTGCCCAAGTGCAAGCTGGCCAGGGACCTCAAGGAAGCTTATGACAGCCTGTGCACGTCG
GGCGTAGTTCGGCTTCACATCAACAGCTGGCTGGAGGTGAGCTTCTGCCTGCCCCACAAGATCCACTATGCGGCCTCCAGTCTGATCCCCCCAGAGGCCATCGAA
CGGAGCCTGAAAGCCATCCGCCCCTACCATGCCCTGCTGCTGCTCAGTGATGAGAAGTCCTTGCTGGGTGAGCTTCCTATTGACTGCTCCCCTGCCCTAGTGCGG
GTGATCAAGACCACATCTGCTGTGAAGAACCTGCAGCAGCTAGCCCAAGATGCGGACCTGGCCTTGCTGCAGGTTTTCCAGCTTGCAGCTCATCTGGTGTACTGG
GGCAAGGCCATCATCATCTACCCGCTGTGTGAGAACAACGTCTACATGCTGTCTCCCAATGCCAGCGTATGTCTGTACTCCCCGCTGGCCGAGCAGTTCTCCCAC
CAGTTCCCATCTCATGACCTGCCGTCCGTTCTTGCCAAGTTCTCCTTGCCGGTCTCCTTGTCAGAATTTAGGAATCCCCTGGCCCCCGCTGTGCAGGAGACCCAG
CTCATCCAGATGGTGGTGTGGATGCTGCAGCGCCGGCTTCTCATCCAGCTGCACACCTATGTCTGCCTGATGGCCTCACCCAGCGAGGAGGAGCCCCGTCCGCGA
GAGGACGACGTCCCCTTCACTGCCCGGGTCGGCGGTCGCAGCCTCAGCACGCCCAACGCCCTCAGCTTTGGCTCCCCAACCAGCAGCGATGACATGACCCTCACC
AGCCCCAGCATGGACAACTCCAGCGCAGAGCTACTTCCCAGCGGGGACTCGCCACTGAACCAGAGGATGACGGAGAACCTGCTGGCCAGCCTGTCGGAGCATGAA
CGCGCAGCCATCCTCAGTGTACCCGCAGCCCAGAACCCTGAGGACCTCCGCATGTTTGCCAGGCTCCTTCACTACTTCCGCGGCCGCCACCACCTGGAGGAGATT
ATGTACAACGAGAACACGCGGCGCTCCCAGCTGCTCATGCTGTTTGACAAGTTCCGCAGCGTGCTGGTGGTGACCACCCACGAGGACCCTGTCATTGCCGTCTTC
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>NPRL3|8131|protein
MADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVR
VIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQ
LIQMVVWMLQRRLLIQLHTYVCLMASPSEEEPRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHE
RAAILSVPAAQNPEDLRMFARLLHYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP
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MADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVR
VIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQ
LIQMVVWMLQRRLLIQLHTYVCLMASPSEEEPRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHE
RAAILSVPAAQNPEDLRMFARLLHYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP
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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 (3) | 1 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | |  | autism | 115 | - | 115 | - | - | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
2.06 | Up | 0.00484 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.