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    BCL7A BAF chromatin remodeling complex subunit BCL7A [ Homo sapiens (human) ]

    Gene ID: 605, updated on 14-Nov-2024

    Summary

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    Official Symbol
    BCL7Aprovided by HGNC
    Official Full Name
    BAF chromatin remodeling complex subunit BCL7Aprovided by HGNC
    Primary source
    HGNC:HGNC:1004
    See related
    Ensembl:ENSG00000110987 MIM:601406; AllianceGenome:HGNC:1004
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCL7; SMARCJ1
    Summary
    This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 10.8), lymph node (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BCL7A in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122021884..122062044)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122017688..122057841)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122459790..122499950)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr12:122349577-122349733 Neighboring gene proteasome 26S subunit, non-ATPase 9 Neighboring gene RNA, U7 small nuclear 170 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5001 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122362388-122363066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5002 Neighboring gene cilia and flagella associated protein 251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122396110-122396629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122396630-122397148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122409067-122409566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7195 Neighboring gene Sharpr-MPRA regulatory region 10891 Neighboring gene uncharacterized LOC124903038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122460343-122461158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7197 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122492684-122493298 Neighboring gene Sharpr-MPRA regulatory region 9922 Neighboring gene Sharpr-MPRA regulatory region 8907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122509410-122510254 Neighboring gene long intergenic non-protein coding RNA 2985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122580754-122581254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122581255-122581755 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122582507-122583160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122583161-122583814 Neighboring gene MLX interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7205 Neighboring gene Sharpr-MPRA regulatory region 11163 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122611084-122611596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122611597-122612107 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:122614034-122615233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122622713-122623575 Neighboring gene MPRA-validated peak2016 silencer

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BCL7A as a novel prognostic biomarker for glioma patients.
      Title: BCL7A as a novel prognostic biomarker for glioma patients.
    2. MiR-501-3p promotes osteosarcoma cell proliferation, migration and invasion by targeting BCL7A.
      Title: MiR-501-3p promotes osteosarcoma cell proliferation, migration and invasion by targeting BCL7A.
    3. Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL.
      Title: Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL.
    4. Survival analysis showed that, compared with those who had higher levels of BCL7A expression, patients with ovarian cancer and low levels of BCL7A generally had shorter overall/relapse-free survival times.
      Title: Low BCL7A expression predicts poor prognosis in ovarian cancer.
    5. BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases. These genes are all involved in translocations in B-cell malignancies. Moreover, we detected a significant difference in mutation frequency of TP53 and IRF4 with frequencies higher among CA cases. Our study provides rationale for interrogating diverse tumor cohorts to best understand tumor genomics across populations.
      Title: Comprehensive molecular profiling of 718 Multiple Myelomas reveals significant differences in mutation frequencies between African and European descent cases.
    6. Data suggest that BCL7A may play an important role in cutaneous T-cell lymphoma (CTCL) carcinogenesis.
      Title: Loss of BCL7A expression correlates with poor disease prognosis in patients with early-stage cutaneous T-cell lymphoma.
    7. Report describes BCL7A protein expression in normal lymphoid tissues and lymphomas using immunohistochemistry.
      Title: BCL7A protein expression in normal and malignant lymphoid tissues.
    8. Variants in BCL7A were strongly related to diffuse large B-cell lymphoma.
      Title: Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    10. deletion of genes BCL7A in early-stage mycosis fungoides.
      Title: Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in motor behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cell differentiation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in neuron projection arborization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of double-strand break repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of stem cell population maintenance NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of G0 to G1 transition NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of G1/S transition of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of mitotic metaphase/anaphase transition NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of nucleotide-excision repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of GBAF complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of SWI/SNF complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SWI/SNF complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in chromatin NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    B-cell CLL/lymphoma 7 protein family member A
    Names
    B-cell CLL/lymphoma 7A
    B-cell CLL/lymphoma-7
    BCL tumor suppressor 7A
    BCL7A, BAF complex component

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001024808.3 → NP_001019979.1  B-cell CLL/lymphoma 7 protein family member A isoform b

      See identical proteins and their annotated locations for NP_001019979.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC069503, AC156455, AK296159
      Consensus CDS
      CCDS53841.1
      UniProtKB/Swiss-Prot
      B4DJN6, B7ZB21, Q13843, Q14CT7, Q4VC05
      Related
      ENSP00000261822.5, ENST00000261822.5
      Conserved Domains (2) summary
      PHA02664
      Location:72 → 205
      PHA02664; hypothetical protein; Provisional
      pfam04714
      Location:4 → 50
      BCL_N; BCL7, N-terminal conserver region

    2. NM_020993.5 → NP_066273.1  B-cell CLL/lymphoma 7 protein family member A isoform a

      See identical proteins and their annotated locations for NP_066273.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC069503, AC156455, AK296159, X89984
      Consensus CDS
      CCDS9226.1
      UniProtKB/Swiss-Prot
      Q4VC05
      Related
      ENSP00000445868.1, ENST00000538010.5
      Conserved Domains (1) summary
      pfam04714
      Location:4 → 50
      BCL_N; BCL7, N-terminal conserver region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      122021884..122062044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332697.1 Reference GRCh38.p14 PATCHES

      Range
      1356..4310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      122017688..122057841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4VC05.1 GenPept UniProtKB/Swiss-Prot:Q4VC05

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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