Evidence Details for BCL2A1
Basic Information Top
| Gene Symbol: | BCL2A1 ( ACC-1,ACC-2,BCL2L5,BFL1,GRS,HBPA1 ) |
|---|---|
| Gene Full Name: | BCL2-related protein A1 |
| Band: | 15q25.1 |
| Quick Links | Entrez ID:597; OMIM: 601056; Uniprot ID:B2LA1_HUMAN; ENSEMBL ID: ENSG00000140379; HGNC ID: 991 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>BCL2A1|597|nucleotide
ATGACAGACTGTGAATTTGGATATATTTACAGGCTGGCTCAGGACTATCTGCAGTGCGTCCTACAGATACCACAACCTGGATCAGGTCCAAGCAAAACGTCCAGA
GTGCTACAAAATGTTGCGTTCTCAGTCCAAAAAGAAGTGGAAAAGAATCTGAAGTCATGCTTGGACAATGTTAATGTTGTGTCCGTAGACACTGCCAGAACACTA
TTCAACCAAGTGATGGAAAAGGAGTTTGAAGACGGCATCATTAACTGGGGAAGAATTGTAACCATATTTGCATTTGAAGGTATTCTCATCAAGAAACTTCTACGA
CAGCAAATTGCCCCGGATGTGGATACCTATAAGGAGATTTCATATTTTGTTGCGGAGTTCATAATGAATAACACAGGAGAATGGATAAGGCAAAACGGAGGCTGG
GGGAAATGGCACAATCACACACCTATGCTGGTAGAGTCAGTGGCCCACAAGAAGAGGAAAATGGCTTTGTAA
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ATGACAGACTGTGAATTTGGATATATTTACAGGCTGGCTCAGGACTATCTGCAGTGCGTCCTACAGATACCACAACCTGGATCAGGTCCAAGCAAAACGTCCAGA
GTGCTACAAAATGTTGCGTTCTCAGTCCAAAAAGAAGTGGAAAAGAATCTGAAGTCATGCTTGGACAATGTTAATGTTGTGTCCGTAGACACTGCCAGAACACTA
TTCAACCAAGTGATGGAAAAGGAGTTTGAAGACGGCATCATTAACTGGGGAAGAATTGTAACCATATTTGCATTTGAAGGTATTCTCATCAAGAAACTTCTACGA
CAGCAAATTGCCCCGGATGTGGATACCTATAAGGAGATTTCATATTTTGTTGCGGAGTTCATAATGAATAACACAGGAGAATGGATAAGGCAAAACGGAGGCTGG
GGGAAATGGCACAATCACACACCTATGCTGGTAGAGTCAGTGGCCCACAAGAAGAGGAAAATGGCTTTGTAA
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>BCL2A1|597|protein
MTDCEFGYIYRLAQDYLQCVLQIPQPGSGPSKTSRVLQNVAFSVQKEVEKNLKSCLDNVNVVSVDTARTLFNQVMEKEFEDGIINWGRIVTIFAFEGILIKKLLR
QQIAPDVDTYKEISYFVAEFIMNNTGEWIRQNGGWGKWHNHTPMLVESVAHKKRKMAL
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MTDCEFGYIYRLAQDYLQCVLQIPQPGSGPSKTSRVLQNVAFSVQKEVEKNLKSCLDNVNVVSVDTARTLFNQVMEKEFEDGIINWGRIVTIFAFEGILIKKLLR
QQIAPDVDTYKEISYFVAEFIMNNTGEWIRQNGGWGKWHNHTPMLVESVAHKKRKMAL
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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) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
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 | ||||||
| Bonati, 2005 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies TopLow 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%) |
-2.32 | Down | 0.00472 | |
| ||||||||||||
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.