Evidence Details for BNIPL
Basic Information Top
Gene Symbol: | BNIPL ( BNIP-S,BNIPL-1,BNIPL-2,PP753 ) |
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Gene Full Name: | BCL2/adenovirus E1B 19kD interacting protein like |
Band: | 1q21.3 |
Quick Links | Entrez ID:149428; OMIM: 611275; Uniprot ID:BNIPL_HUMAN; ENSEMBL ID: ENSG00000163141; HGNC ID: 16976 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>BNIPL|149428|nucleotide
ATGCGCAAGCGTCTTTCTGCCCCAGAGTTGCGGCTGAGTCTGACTAAGGGGCCTGGAAATGATGGAGCTTCACCCACCCAGTCTGCACCTTCCTCTCCTGATGGC
AGTTCTGACCTGGAGATAGACGAATTGGAGACACCTTCAGACTCGGAGCAGCTGGACAGTGGACATGAATTTGAATGGGAAGATGAACTACCCCGGGCAGAGGGT
CTGGGCACCAGTGAGACAGCTGAAAGGCTGGGCCGAGGTTGTATGTGGGATGTGACTGGAGAAGATGGACATCACTGGAGGGTGTTCCGAATGGGACCACGGGAG
CAGCGCGTAGACATGACTGTCATTGAGCCCTATAAGAAAGTCCTGTCTCATGGAGGTTACCACGGTGATGGCCTCAATGCTGTCATCCTTTTTGCTTCCTGTTAT
CTACCCAGAAGCAGCATCCCCAACTACACCTATGTCATGGAACACTTGTTTAGGTATATGGTGGGAACTCTGGAGCTGCTAGTAGCTGAAAATTACCTGCTTGTT
CATTTGAGTGGAGGCACAAGCAGGGCCCAAGTTCCACCTCTAAGCTGGATACGTCAGTGTTACCGTACCCTGGATCGGCGGCTACGGAAAAACCTGCGAGCCCTG
GTGGTTGTCCATGCTACATGGTATGTGAAAGCATTTCTGGCACTGCTTCGGCCCTTCATCAGTTCCAAATTCACACGAAAAATCCGTTTTCTGGACAGCCTGGGG
GAGCTGGCCCAACTCATATCCCTGGATCAAGTCCACATCCCTGAAGCTGTCAGACAGCTGGACCGGGATCTCCATGGCTCAGGAGGGACATAG
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ATGCGCAAGCGTCTTTCTGCCCCAGAGTTGCGGCTGAGTCTGACTAAGGGGCCTGGAAATGATGGAGCTTCACCCACCCAGTCTGCACCTTCCTCTCCTGATGGC
AGTTCTGACCTGGAGATAGACGAATTGGAGACACCTTCAGACTCGGAGCAGCTGGACAGTGGACATGAATTTGAATGGGAAGATGAACTACCCCGGGCAGAGGGT
CTGGGCACCAGTGAGACAGCTGAAAGGCTGGGCCGAGGTTGTATGTGGGATGTGACTGGAGAAGATGGACATCACTGGAGGGTGTTCCGAATGGGACCACGGGAG
CAGCGCGTAGACATGACTGTCATTGAGCCCTATAAGAAAGTCCTGTCTCATGGAGGTTACCACGGTGATGGCCTCAATGCTGTCATCCTTTTTGCTTCCTGTTAT
CTACCCAGAAGCAGCATCCCCAACTACACCTATGTCATGGAACACTTGTTTAGGTATATGGTGGGAACTCTGGAGCTGCTAGTAGCTGAAAATTACCTGCTTGTT
CATTTGAGTGGAGGCACAAGCAGGGCCCAAGTTCCACCTCTAAGCTGGATACGTCAGTGTTACCGTACCCTGGATCGGCGGCTACGGAAAAACCTGCGAGCCCTG
GTGGTTGTCCATGCTACATGGTATGTGAAAGCATTTCTGGCACTGCTTCGGCCCTTCATCAGTTCCAAATTCACACGAAAAATCCGTTTTCTGGACAGCCTGGGG
GAGCTGGCCCAACTCATATCCCTGGATCAAGTCCACATCCCTGAAGCTGTCAGACAGCTGGACCGGGATCTCCATGGCTCAGGAGGGACATAG
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>BNIPL|149428|protein
MRKRLSAPELRLSLTKGPGNDGASPTQSAPSSPDGSSDLEIDELETPSDSEQLDSGHEFEWEDELPRAEGLGTSETAERLGRGCMWDVTGEDGHHWRVFRMGPRE
QRVDMTVIEPYKKVLSHGGYHGDGLNAVILFASCYLPRSSIPNYTYVMEHLFRYMVGTLELLVAENYLLVHLSGGTSRAQVPPLSWIRQCYRTLDRRLRKNLRAL
VVVHATWYVKAFLALLRPFISSKFTRKIRFLDSLGELAQLISLDQVHIPEAVRQLDRDLHGSGGT
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MRKRLSAPELRLSLTKGPGNDGASPTQSAPSSPDGSSDLEIDELETPSDSEQLDSGHEFEWEDELPRAEGLGTSETAERLGRGCMWDVTGEDGHHWRVFRMGPRE
QRVDMTVIEPYKKVLSHGGYHGDGLNAVILFASCYLPRSSIPNYTYVMEHLFRYMVGTLELLVAENYLLVHLSGGTSRAQVPPLSWIRQCYRTLDRRLRKNLRAL
VVVHATWYVKAFLALLRPFISSKFTRKIRFLDSLGELAQLISLDQVHIPEAVRQLDRDLHGSGGT
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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 |
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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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