Evidence Details for NBEA
Basic Information Top
Gene Symbol: | NBEA ( BCL8B,LYST2 ) |
---|---|
Gene Full Name: | neurobeachin |
Band: | 13q13.3 |
Quick Links | Entrez ID:26960; OMIM: 604889; Uniprot ID:NBEA_HUMAN; ENSEMBL ID: ENSG00000172915; HGNC ID: 7648 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NBEA|26960|nucleotide
ATGTTCAGCGAGATACGAGCTGTATTTTCAAGACGTTACCTTCTACAAAACACTGCTTTGGAAGTATTTATGGCAAACCGAACCTCAGTTATGTTTAATTTCCCT
GATCAAGCAACAGTAAAAAAAGTTGTCTATAGCTTGCCTCGGGTTGGAGTAGGGACCAGCTATGGTCTGCCACAAGCCAGGAGGATATCATTGGCCACTCCTCGA
CAGCTTTATAAATCTTCCAATATGACTCAGCGCTGGCAAAGAAGGGAAATTTCAAACTTCGAATATTTGATGTTCCTTAATACTATTGCAGGACGGACATATAAT
GATCTGAACCAATATCCAGTGTTTCCGTGGGTGTTAACCAACTATGAATCAGAAGAGTTGGACCTGACTCTTCCAGGAAACTTCAGGGATCTATCAAAGCCAATT
GGTGCTTTGAACCCCAAGAGAGCTGTGTTTTATGCAGAGCGTTATGAGACATGGGAAGATGATCAAAGCCCACCCTACCATTATAATACCCATTATTCAACAGCA
ACATCTACTTTATCCTGGCTTGTTCGAATTGAACCTTTCACAACCTTCTTCCTCAATGCAAATGATGGAAAATTTGATCATCCAGATCGAACCTTCTCATCCGTT
GCAAGGTCTTGGAGAACTAGTCAGAGAGATACTTCTGATGTAAAGGAACTAATTCCAGAGTTCTACTACCTACCAGAGATGTTTGTCAACAGTAATGGATATAAT
CTTGGAGTCAGAGAAGATGAAGTAGTGGTAAATGATGTTGATCTTCCCCCTTGGGCAAAAAAACCTGAAGACTTTGTGCGGATCAACAGGATGGCCCTAGAAAGT
GAATTTGTTTCTTGCCAACTTCATCAGTGGATCGACCTTATATTTGGCTATAAGCAGCGAGGACCAGAAGCAGTTCGTGCTCTGAATGTTTTTCACTACTTGACT
TATGAAGGCTCTGTGAACCTGGATAGTATCACTGATCCTGTGCTCAGGGAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATT
GAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGTGTTTCCTTCCACAGAGTCCGCTCATGTTTAAAGATCAGATGCAACAGGATGTGATAATGGTGCTGAAG
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ATGTTCAGCGAGATACGAGCTGTATTTTCAAGACGTTACCTTCTACAAAACACTGCTTTGGAAGTATTTATGGCAAACCGAACCTCAGTTATGTTTAATTTCCCT
GATCAAGCAACAGTAAAAAAAGTTGTCTATAGCTTGCCTCGGGTTGGAGTAGGGACCAGCTATGGTCTGCCACAAGCCAGGAGGATATCATTGGCCACTCCTCGA
CAGCTTTATAAATCTTCCAATATGACTCAGCGCTGGCAAAGAAGGGAAATTTCAAACTTCGAATATTTGATGTTCCTTAATACTATTGCAGGACGGACATATAAT
GATCTGAACCAATATCCAGTGTTTCCGTGGGTGTTAACCAACTATGAATCAGAAGAGTTGGACCTGACTCTTCCAGGAAACTTCAGGGATCTATCAAAGCCAATT
GGTGCTTTGAACCCCAAGAGAGCTGTGTTTTATGCAGAGCGTTATGAGACATGGGAAGATGATCAAAGCCCACCCTACCATTATAATACCCATTATTCAACAGCA
ACATCTACTTTATCCTGGCTTGTTCGAATTGAACCTTTCACAACCTTCTTCCTCAATGCAAATGATGGAAAATTTGATCATCCAGATCGAACCTTCTCATCCGTT
GCAAGGTCTTGGAGAACTAGTCAGAGAGATACTTCTGATGTAAAGGAACTAATTCCAGAGTTCTACTACCTACCAGAGATGTTTGTCAACAGTAATGGATATAAT
CTTGGAGTCAGAGAAGATGAAGTAGTGGTAAATGATGTTGATCTTCCCCCTTGGGCAAAAAAACCTGAAGACTTTGTGCGGATCAACAGGATGGCCCTAGAAAGT
GAATTTGTTTCTTGCCAACTTCATCAGTGGATCGACCTTATATTTGGCTATAAGCAGCGAGGACCAGAAGCAGTTCGTGCTCTGAATGTTTTTCACTACTTGACT
TATGAAGGCTCTGTGAACCTGGATAGTATCACTGATCCTGTGCTCAGGGAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATT
GAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGTGTTTCCTTCCACAGAGTCCGCTCATGTTTAAAGATCAGATGCAACAGGATGTGATAATGGTGCTGAAG
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>NBEA|26960|protein
MFSEIRAVFSRRYLLQNTALEVFMANRTSVMFNFPDQATVKKVVYSLPRVGVGTSYGLPQARRISLATPRQLYKSSNMTQRWQRREISNFEYLMFLNTIAGRTYN
DLNQYPVFPWVLTNYESEELDLTLPGNFRDLSKPIGALNPKRAVFYAERYETWEDDQSPPYHYNTHYSTATSTLSWLVRIEPFTTFFLNANDGKFDHPDRTFSSV
ARSWRTSQRDTSDVKELIPEFYYLPEMFVNSNGYNLGVREDEVVVNDVDLPPWAKKPEDFVRINRMALESEFVSCQLHQWIDLIFGYKQRGPEAVRALNVFHYLT
YEGSVNLDSITDPVLREAMEAQIQNFGQTPSQLLIEPHPPRSSAMHLCFLPQSPLMFKDQMQQDVIMVLKFPSNSPVTHVAANTLPHLTIPAVVTVTCSRLFAVN
RWHNTVGLRGAPGYSLDQAHHLPIEMDPLIANNSGVNKRQITDLVDQSIQINAHCFVVTADNRYILICGFWDKSFRVYSTETGKLTQIVFGHWDVVTCLARSESY
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MFSEIRAVFSRRYLLQNTALEVFMANRTSVMFNFPDQATVKKVVYSLPRVGVGTSYGLPQARRISLATPRQLYKSSNMTQRWQRREISNFEYLMFLNTIAGRTYN
DLNQYPVFPWVLTNYESEELDLTLPGNFRDLSKPIGALNPKRAVFYAERYETWEDDQSPPYHYNTHYSTATSTLSWLVRIEPFTTFFLNANDGKFDHPDRTFSSV
ARSWRTSQRDTSDVKELIPEFYYLPEMFVNSNGYNLGVREDEVVVNDVDLPPWAKKPEDFVRINRMALESEFVSCQLHQWIDLIFGYKQRGPEAVRALNVFHYLT
YEGSVNLDSITDPVLREAMEAQIQNFGQTPSQLLIEPHPPRSSAMHLCFLPQSPLMFKDQMQQDVIMVLKFPSNSPVTHVAANTLPHLTIPAVVTVTCSRLFAVN
RWHNTVGLRGAPGYSLDQAHHLPIEMDPLIANNSGVNKRQITDLVDQSIQINAHCFVVTADNRYILICGFWDKSFRVYSTETGKLTQIVFGHWDVVTCLARSESY
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 1 (1) | 10 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Smith, 2002 | - | FISH | autism | - | - | - | - | 1 | - | 1 |
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 |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
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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