Evidence Details for BCL2L13
Basic Information Top
| Gene Symbol: | BCL2L13 ( BCL-RAMBO,Bcl2-L-13,MIL1 ) |
|---|---|
| Gene Full Name: | BCL2-like 13 (apoptosis facilitator) |
| Band: | 22q11.21 |
| Quick Links | Entrez ID:23786; OMIM: NA; Uniprot ID:B2L13_HUMAN; ENSEMBL ID: ENSG00000099968; HGNC ID: 17164 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>BCL2L13|23786|nucleotide
ATGGCGTCCTCTTCTACTGTGCCTCTGGGATTTCACTATGAAACAAAGTATGTTGTTCTCAGCTACTTGGGACTCCTCTCTCAAGAGAAGCTGCAAGAGCAACAT
CTTTCCTCACCCCAAGGGGTTCAACTAGATATAGCTTCACAATCTCTGGATCAAGAAATTTTATTAAAAGTTAAAACTGAAATTGAAGAAGAGCTAAAATCTCTG
GACAAAGAAATTTCTGAAGCCTTCACCAGCACAGGCTTTGACCGTCACACTTCTCCAGTGTTCAGCCCTGCCAATCCAGAAAGCTCAATGGAAGACTGCTTGGCC
CATCTTGGAGAAAAAGTGTCCCAGGAACTGAAAGAGCCTCTCCATAAAGCATTGCAAATGCTCCTGAGCCAGCCAGTGACATATCAGGCATTTCGGGAATGTACA
CTGGAGACCACAGTTCATGCCAGCGGCTGGAATAAGATTTTGGTGCCTCTGGTTTTGCTACGACAAATGCTTTTGGAATTGACAAGACGTGGTCAAGAACCTTTG
AGCGCACTGCTGCAGTTTGGCGTGACATACCTGGAGGACTATTCGGCAGAGTACATCATTCAGCAAGGTGGCTGGGGCACTGTGTTTAGTCTTGAGTCAGAGGAG
GAGGAATACCCTGGAATCACTGCAGAAGATAGCAATGACATTTACATCCTGCCCAGCGACAACTCTGGACAAGTCAGTCCCCCAGAGTCTCCAACTGTGACCACT
TCCTGGCAGTCTGAGAGCTTACCTGTGTCACTGTCAGCTAGCCAGAGTTGGCACACAGAAAGCCTGCCAGTGTCACTAGGCCCTGAGTCCTGGCAGCAGATTGCA
ATGGATCCTGAAGAAGTGAAAAGCTTAGACAGCAACGGAGCTGGAGAGAAGAGTGAGAACAACTCCTCTAATTCTGACATTGTGCACGTGGAGAAAGAAGAGGTG
CCCGAGGGCATGGAAGAGGCTGCTGTGGCTTCTGTGGTCTTGCCAGCGCGGGAGCTGCAAGAGGCACTTCCTGAAGCCCCAGCTCCCTTGCTTCCACATATCACT
GCCACCTCCCTGCTGGGGACAAGGGAACCTGACACAGAAGTGATCACAGTTGAGAAATCCAGCCCTGCTACATCTCTGTTTGTAGAACTTGATGAAGAAGAGGTG
Show »
ATGGCGTCCTCTTCTACTGTGCCTCTGGGATTTCACTATGAAACAAAGTATGTTGTTCTCAGCTACTTGGGACTCCTCTCTCAAGAGAAGCTGCAAGAGCAACAT
CTTTCCTCACCCCAAGGGGTTCAACTAGATATAGCTTCACAATCTCTGGATCAAGAAATTTTATTAAAAGTTAAAACTGAAATTGAAGAAGAGCTAAAATCTCTG
GACAAAGAAATTTCTGAAGCCTTCACCAGCACAGGCTTTGACCGTCACACTTCTCCAGTGTTCAGCCCTGCCAATCCAGAAAGCTCAATGGAAGACTGCTTGGCC
CATCTTGGAGAAAAAGTGTCCCAGGAACTGAAAGAGCCTCTCCATAAAGCATTGCAAATGCTCCTGAGCCAGCCAGTGACATATCAGGCATTTCGGGAATGTACA
CTGGAGACCACAGTTCATGCCAGCGGCTGGAATAAGATTTTGGTGCCTCTGGTTTTGCTACGACAAATGCTTTTGGAATTGACAAGACGTGGTCAAGAACCTTTG
AGCGCACTGCTGCAGTTTGGCGTGACATACCTGGAGGACTATTCGGCAGAGTACATCATTCAGCAAGGTGGCTGGGGCACTGTGTTTAGTCTTGAGTCAGAGGAG
GAGGAATACCCTGGAATCACTGCAGAAGATAGCAATGACATTTACATCCTGCCCAGCGACAACTCTGGACAAGTCAGTCCCCCAGAGTCTCCAACTGTGACCACT
TCCTGGCAGTCTGAGAGCTTACCTGTGTCACTGTCAGCTAGCCAGAGTTGGCACACAGAAAGCCTGCCAGTGTCACTAGGCCCTGAGTCCTGGCAGCAGATTGCA
ATGGATCCTGAAGAAGTGAAAAGCTTAGACAGCAACGGAGCTGGAGAGAAGAGTGAGAACAACTCCTCTAATTCTGACATTGTGCACGTGGAGAAAGAAGAGGTG
CCCGAGGGCATGGAAGAGGCTGCTGTGGCTTCTGTGGTCTTGCCAGCGCGGGAGCTGCAAGAGGCACTTCCTGAAGCCCCAGCTCCCTTGCTTCCACATATCACT
GCCACCTCCCTGCTGGGGACAAGGGAACCTGACACAGAAGTGATCACAGTTGAGAAATCCAGCCCTGCTACATCTCTGTTTGTAGAACTTGATGAAGAAGAGGTG
Show »
>BCL2L13|23786|protein
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQGVQLDIASQSLDQEILLKVKTEIEEELKSLDKEISEAFTSTGFDRHTSPVFSPANPESSMEDCLA
HLGEKVSQELKEPLHKALQMLLSQPVTYQAFRECTLETTVHASGWNKILVPLVLLRQMLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEE
EEYPGITAEDSNDIYILPSDNSGQVSPPESPTVTTSWQSESLPVSLSASQSWHTESLPVSLGPESWQQIAMDPEEVKSLDSNGAGEKSENNSSNSDIVHVEKEEV
PEGMEEAAVASVVLPARELQEALPEAPAPLLPHITATSLLGTREPDTEVITVEKSSPATSLFVELDEEEVKAATTEPTEVEEVVPALEPTETLLSEKEINAREES
LVEELSPASEKKPVPPSEGKSRLSPAGEMKPMPLSEGKSILLFGGAAAVAILAVAIGVALALRKK
Show »
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQGVQLDIASQSLDQEILLKVKTEIEEELKSLDKEISEAFTSTGFDRHTSPVFSPANPESSMEDCLA
HLGEKVSQELKEPLHKALQMLLSQPVTYQAFRECTLETTVHASGWNKILVPLVLLRQMLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEE
EEYPGITAEDSNDIYILPSDNSGQVSPPESPTVTTSWQSESLPVSLSASQSWHTESLPVSLGPESWQQIAMDPEEVKSLDSNGAGEKSENNSSNSDIVHVEKEEV
PEGMEEAAVASVVLPARELQEALPEAPAPLLPHITATSLLGTREPDTEVITVEKSSPATSLFVELDEEEVKAATTEPTEVEEVVPALEPTETLLSEKEINAREES
LVEELSPASEKKPVPPSEGKSRLSPAGEMKPMPLSEGKSILLFGGAAAVAILAVAIGVALALRKK
Show »
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 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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 | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top