Evidence Details for BCL11A
Basic Information Top
| Gene Symbol: | BCL11A ( BCL11A-L,BCL11A-S,BCL11A-XL,CTIP1,EVI9,FLJ10173,FLJ34997,HBFQTL5,KIAA1809,ZNF856 ) |
|---|---|
| Gene Full Name: | B-cell CLL/lymphoma 11A (zinc finger protein) |
| Band: | 2p16.1 |
| Quick Links | Entrez ID:53335; OMIM: 606557; Uniprot ID:BC11A_HUMAN; ENSEMBL ID: ENSG00000119866; HGNC ID: 13221 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>BCL11A|53335|nucleotide
ATGTCTCGCCGCAAGCAAGGCAAACCCCAGCACTTAAGCAAACGGGAATTCTCGCCCGAGCCTCTTGAAGCCATTCTTACAGATGATGAACCAGACCACGGCCCG
TTGGGAGCTCCAGAAGGGGATCATGACCTCCTCACCTGTGGGCAGTGCCAGATGAACTTCCCATTGGGGGACATTCTTATTTTTATCGAGCACAAACGGAAACAA
TGCAATGGCAGCCTCTGCTTAGAAAAAGCTGTGGATAAGCCACCTTCCCCTTCACCAATCGAGATGAAAAAAGCATCCAATCCCGTGGAGGTTGGCATCCAGGTC
ACGCCAGAGGATGACGATTGTTTATCAACGTCATCTAGAGGAATTTGCCCCAAACAGGAACACATAGCAGATAAACTTCTGCACTGGAGGGGCCTCTCCTCCCCT
CGTTCTGCACATGGAGCTCTAATCCCCACGCCTGGGATGAGTGCAGAATATGCCCCGCAGGGTATTTGTAAAGATGAGCCCAGCAGCTACACATGTACAACTTGC
AAACAGCCATTCACCAGTGCATGGTTTCTCTTGCAACACGCACAGAACACTCATGGATTAAGAATCTACTTAGAAAGCGAACACGGAAGTCCCCTGACCCCGCGG
GTTGGTATCCCTTCAGGACTAGGTGCAGAATGTCCTTCCCAGCCACCTCTCCATGGGATTCATATTGCAGACAATAACCCCTTTAACCTGCTAAGAATACCAGGA
TCAGTATCGAGAGAGGCTTCCGGCCTGGCAGAAGGGCGCTTTCCACCCACTCCCCCCCTGTTTAGTCCACCACCGAGACATCACTTGGACCCCCACCGCATAGAG
CGCCTGGGGGCGGAAGAGATGGCCCTGGCCACCCATCACCCGAGTGCCTTTGACAGGGTGCTGCGGTTGAATCCAATGGCTATGGAGCCTCCCGCCATGGATTTC
TCTAGGAGACTTAGAGAGCTGGCAGGGAACACGTCTAGCCCACCGCTGTCCCCAGGCCGGCCCAGCCCTATGCAAAGGTTACTGCAACCATTCCAGCCAGGTAGC
AAGCCGCCCTTCCTGGCGACGCCCCCCCTCCCTCCTCTGCAATCCGCCCCTCCTCCCTCCCAGCCCCCGGTCAAGTCCAAGTCATGCGAGTTCTGCGGCAAGACG
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ATGTCTCGCCGCAAGCAAGGCAAACCCCAGCACTTAAGCAAACGGGAATTCTCGCCCGAGCCTCTTGAAGCCATTCTTACAGATGATGAACCAGACCACGGCCCG
TTGGGAGCTCCAGAAGGGGATCATGACCTCCTCACCTGTGGGCAGTGCCAGATGAACTTCCCATTGGGGGACATTCTTATTTTTATCGAGCACAAACGGAAACAA
TGCAATGGCAGCCTCTGCTTAGAAAAAGCTGTGGATAAGCCACCTTCCCCTTCACCAATCGAGATGAAAAAAGCATCCAATCCCGTGGAGGTTGGCATCCAGGTC
ACGCCAGAGGATGACGATTGTTTATCAACGTCATCTAGAGGAATTTGCCCCAAACAGGAACACATAGCAGATAAACTTCTGCACTGGAGGGGCCTCTCCTCCCCT
CGTTCTGCACATGGAGCTCTAATCCCCACGCCTGGGATGAGTGCAGAATATGCCCCGCAGGGTATTTGTAAAGATGAGCCCAGCAGCTACACATGTACAACTTGC
AAACAGCCATTCACCAGTGCATGGTTTCTCTTGCAACACGCACAGAACACTCATGGATTAAGAATCTACTTAGAAAGCGAACACGGAAGTCCCCTGACCCCGCGG
GTTGGTATCCCTTCAGGACTAGGTGCAGAATGTCCTTCCCAGCCACCTCTCCATGGGATTCATATTGCAGACAATAACCCCTTTAACCTGCTAAGAATACCAGGA
TCAGTATCGAGAGAGGCTTCCGGCCTGGCAGAAGGGCGCTTTCCACCCACTCCCCCCCTGTTTAGTCCACCACCGAGACATCACTTGGACCCCCACCGCATAGAG
CGCCTGGGGGCGGAAGAGATGGCCCTGGCCACCCATCACCCGAGTGCCTTTGACAGGGTGCTGCGGTTGAATCCAATGGCTATGGAGCCTCCCGCCATGGATTTC
TCTAGGAGACTTAGAGAGCTGGCAGGGAACACGTCTAGCCCACCGCTGTCCCCAGGCCGGCCCAGCCCTATGCAAAGGTTACTGCAACCATTCCAGCCAGGTAGC
AAGCCGCCCTTCCTGGCGACGCCCCCCCTCCCTCCTCTGCAATCCGCCCCTCCTCCCTCCCAGCCCCCGGTCAAGTCCAAGTCATGCGAGTTCTGCGGCAAGACG
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>BCL11A|53335|protein
MSRRKQGKPQHLSKREFSPEPLEAILTDDEPDHGPLGAPEGDHDLLTCGQCQMNFPLGDILIFIEHKRKQCNGSLCLEKAVDKPPSPSPIEMKKASNPVEVGIQV
TPEDDDCLSTSSRGICPKQEHIADKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGICKDEPSSYTCTTCKQPFTSAWFLLQHAQNTHGLRIYLESEHGSPLTPR
VGIPSGLGAECPSQPPLHGIHIADNNPFNLLRIPGSVSREASGLAEGRFPPTPPLFSPPPRHHLDPHRIERLGAEEMALATHHPSAFDRVLRLNPMAMEPPAMDF
SRRLRELAGNTSSPPLSPGRPSPMQRLLQPFQPGSKPPFLATPPLPPLQSAPPPSQPPVKSKSCEFCGKTFKFQSNLVVHRRSHTGEKPYKCNLCDHACTQASKL
KRHMKTHMHKSSPMTVKSDDGLSTASSPEPGTSDLVGSASSALKSVVAKFKSENDPNLIPENGDEEEEEDDEEEEEEEEEEEEELTESERVDYGFGLSLEAARHH
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MSRRKQGKPQHLSKREFSPEPLEAILTDDEPDHGPLGAPEGDHDLLTCGQCQMNFPLGDILIFIEHKRKQCNGSLCLEKAVDKPPSPSPIEMKKASNPVEVGIQV
TPEDDDCLSTSSRGICPKQEHIADKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGICKDEPSSYTCTTCKQPFTSAWFLLQHAQNTHGLRIYLESEHGSPLTPR
VGIPSGLGAECPSQPPLHGIHIADNNPFNLLRIPGSVSREASGLAEGRFPPTPPLFSPPPRHHLDPHRIERLGAEEMALATHHPSAFDRVLRLNPMAMEPPAMDF
SRRLRELAGNTSSPPLSPGRPSPMQRLLQPFQPGSKPPFLATPPLPPLQSAPPPSQPPVKSKSCEFCGKTFKFQSNLVVHRRSHTGEKPYKCNLCDHACTQASKL
KRHMKTHMHKSSPMTVKSDDGLSTASSPEPGTSDLVGSASSALKSVVAKFKSENDPNLIPENGDEEEEEDDEEEEEEEEEEEEELTESERVDYGFGLSLEAARHH
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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 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (5) | 0 (0) | 0 (1) | 0 (0) | 12 (9) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Rajcan-Separovic, 2007 | - | aCGH | | | ASD | - | - | - | - | 1 | - | 1 |
| Basak A, 2015 | - | Sanger sequencing | - | - | ASD | - | - | - | - | 3 | - | 3 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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 |
| Cai T, 2017 | 1 | - | 1 | Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intel |
| Geisheker MR, 2017 | - | - | 36 | Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. |
| Deciphering Developmental , 2015 | 15 | - | 15 | Large-scale discovery of novel genetic causes of developmental disorders. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cai T, 2017 | - | - | - | - | ASD | - | - | - | 3 | - |
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.