Evidence Details for NUPL2
Basic Information Top
Gene Symbol: | NUPL2 ( CG1,NLP-1,NLP_1,hCG1 ) |
---|---|
Gene Full Name: | nucleoporin like 2 |
Band: | 7p15.3 |
Quick Links | Entrez ID:11097; OMIM: NA; Uniprot ID:NUPL2_HUMAN; ENSEMBL ID: ENSG00000136243; HGNC ID: 17010 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NUPL2|11097|nucleotide
ATGGCCATTTGTCAATTCTTCCTTCAAGGCCGGTGCCGCTTTGGAGATCGGTGCTGGAACGAACATCCCGGTGCTAGGGGTGCAGGAGGAGGACGGCAGCAACCG
CAGCAGCAGCCTTCAGGTAATAATAGACGTGGATGGAATACAACTAGCCAGAGATATTCCAATGTCATCCAGCCATCCAGTTTCTCCAAATCCACACCATGGGGG
GGCAGCAGAGATCAAGAAAAGCCATATTTCAGTTCTTTTGATTCTGGAGCTTCAACTAACAGGAAGGAAGGCTTTGGATTGTCTGAGAACCCATTTGCTTCACTT
AGTCCTGATGAGCAGAAAGATGAAAAGAAACTTCTGGAAGGAATTGTAAAAGATATGGAGGTTTGGGAATCATCAGGGCAGTGGATGTTTTCTGTTTATTCACCA
GTGAAAAAGAAACCTAATATTTCAGGTTTTACAGACATTTCACCAGAGGAATTGAGGCTTGAATACCATAACTTCTTAACCAGCAATAACTTACAGAGTTATCTA
AATTCTGTCCAACGTTTAATAAATCAATGGAGGAACAGGGTAAATGAACTGAAAAGTCTAAATATATCAACTAAAGTAGCTTTGCTCTCTGATGTAAAGGATGGA
GTAAATCAAGCAGCACCTGCATTTGGATTTGGCAGCAGTCAAGCAGCAACATTTATGTCGCCAGGCTTTCCAGTCAATAACAGCAGCAGTGATAATGCTCAGAAC
TTTAGTTTTAAAACAAACTCTGGATTTGCTGCTGCCTCTTCTGGAAGCCCTGCTGGTTTTGGGAGTTCCCCAGCATTTGGAGCTGCAGCCTCTACCAGTTCAGGT
ATCTCTACTTCTGCTCCAGCTTTTGGATTTGGGAAGCCTGAAGTCACATCGGCTGCATCATTTTCATTCAAAAGCCCTGCAGCTTCCAGTTTTGGATCACCTGGA
TTTTCAGGACTTCCAGCTTCCTTGGCAACAGGTCCTGTCAGAGCTCCAGTGGCCCCAGCCTTTGGAGGTGGCAGTTCTGTGGCTGGTTTTGGTAGTCCGGGCTCA
CATTCTCACACTGCTTTTTCTAAGCCATCCAGTGACACTTTTGGAAATAGCAGCATATCCACTTCTCTGTCAGCCTCAAGCAGCATCATTGCAACAGATAATGTG
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ATGGCCATTTGTCAATTCTTCCTTCAAGGCCGGTGCCGCTTTGGAGATCGGTGCTGGAACGAACATCCCGGTGCTAGGGGTGCAGGAGGAGGACGGCAGCAACCG
CAGCAGCAGCCTTCAGGTAATAATAGACGTGGATGGAATACAACTAGCCAGAGATATTCCAATGTCATCCAGCCATCCAGTTTCTCCAAATCCACACCATGGGGG
GGCAGCAGAGATCAAGAAAAGCCATATTTCAGTTCTTTTGATTCTGGAGCTTCAACTAACAGGAAGGAAGGCTTTGGATTGTCTGAGAACCCATTTGCTTCACTT
AGTCCTGATGAGCAGAAAGATGAAAAGAAACTTCTGGAAGGAATTGTAAAAGATATGGAGGTTTGGGAATCATCAGGGCAGTGGATGTTTTCTGTTTATTCACCA
GTGAAAAAGAAACCTAATATTTCAGGTTTTACAGACATTTCACCAGAGGAATTGAGGCTTGAATACCATAACTTCTTAACCAGCAATAACTTACAGAGTTATCTA
AATTCTGTCCAACGTTTAATAAATCAATGGAGGAACAGGGTAAATGAACTGAAAAGTCTAAATATATCAACTAAAGTAGCTTTGCTCTCTGATGTAAAGGATGGA
GTAAATCAAGCAGCACCTGCATTTGGATTTGGCAGCAGTCAAGCAGCAACATTTATGTCGCCAGGCTTTCCAGTCAATAACAGCAGCAGTGATAATGCTCAGAAC
TTTAGTTTTAAAACAAACTCTGGATTTGCTGCTGCCTCTTCTGGAAGCCCTGCTGGTTTTGGGAGTTCCCCAGCATTTGGAGCTGCAGCCTCTACCAGTTCAGGT
ATCTCTACTTCTGCTCCAGCTTTTGGATTTGGGAAGCCTGAAGTCACATCGGCTGCATCATTTTCATTCAAAAGCCCTGCAGCTTCCAGTTTTGGATCACCTGGA
TTTTCAGGACTTCCAGCTTCCTTGGCAACAGGTCCTGTCAGAGCTCCAGTGGCCCCAGCCTTTGGAGGTGGCAGTTCTGTGGCTGGTTTTGGTAGTCCGGGCTCA
CATTCTCACACTGCTTTTTCTAAGCCATCCAGTGACACTTTTGGAAATAGCAGCATATCCACTTCTCTGTCAGCCTCAAGCAGCATCATTGCAACAGATAATGTG
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>NUPL2|11097|protein
MAICQFFLQGRCRFGDRCWNEHPGARGAGGGRQQPQQQPSGNNRRGWNTTSQRYSNVIQPSSFSKSTPWGGSRDQEKPYFSSFDSGASTNRKEGFGLSENPFASL
SPDEQKDEKKLLEGIVKDMEVWESSGQWMFSVYSPVKKKPNISGFTDISPEELRLEYHNFLTSNNLQSYLNSVQRLINQWRNRVNELKSLNISTKVALLSDVKDG
VNQAAPAFGFGSSQAATFMSPGFPVNNSSSDNAQNFSFKTNSGFAAASSGSPAGFGSSPAFGAAASTSSGISTSAPAFGFGKPEVTSAASFSFKSPAASSFGSPG
FSGLPASLATGPVRAPVAPAFGGGSSVAGFGSPGSHSHTAFSKPSSDTFGNSSISTSLSASSSIIATDNVLFTPRDKLTVEELEQFQSKKFTLGKIPLKPPPLEL
LNV
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MAICQFFLQGRCRFGDRCWNEHPGARGAGGGRQQPQQQPSGNNRRGWNTTSQRYSNVIQPSSFSKSTPWGGSRDQEKPYFSSFDSGASTNRKEGFGLSENPFASL
SPDEQKDEKKLLEGIVKDMEVWESSGQWMFSVYSPVKKKPNISGFTDISPEELRLEYHNFLTSNNLQSYLNSVQRLINQWRNRVNELKSLNISTKVALLSDVKDG
VNQAAPAFGFGSSQAATFMSPGFPVNNSSSDNAQNFSFKTNSGFAAASSGSPAGFGSSPAFGAAASTSSGISTSAPAFGFGKPEVTSAASFSFKSPAASSFGSPG
FSGLPASLATGPVRAPVAPAFGGGSSVAGFGSPGSHSHTAFSKPSSDTFGNSSISTSLSASSSIIATDNVLFTPRDKLTVEELEQFQSKKFTLGKIPLKPPPLEL
LNV
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Evidence summary Top
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
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
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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