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    BCAS4 breast carcinoma amplified sequence 4 [ Homo sapiens (human) ]

    Gene ID: 55653, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BCAS4provided by HGNC
    Official Full Name
    breast carcinoma amplified sequence 4provided by HGNC
    Primary source
    HGNC:HGNC:14367
    See related
    Ensembl:ENSG00000124243 MIM:607471; AllianceGenome:HGNC:14367
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CNOL
    Summary
    Predicted to be located in cytoplasm. Predicted to be part of BLOC-1 complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in lymph node (RPKM 5.4), appendix (RPKM 2.0) and 18 other tissues See more
    Orthologs
    all
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    Genomic context

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    See BCAS4 in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (50794894..50882676)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (52565311..52653289)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (49411431..49493714)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RIPOR family member 3 Neighboring gene uncharacterized LOC105372659 Neighboring gene VISTA enhancer hs1860 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:49313764-49313925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49320243-49320744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49320745-49321244 Neighboring gene CRISPRi-validated cis-regulatory element chr20.2420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13023 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:49345068-49346267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13025 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:49353859-49354534 Neighboring gene par-6 family cell polarity regulator beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49406827-49407512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49436893-49437394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49450347-49450846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49453840-49454668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49464983-49465591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49465592-49466199 Neighboring gene TMSB4X pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49477383-49477904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49479088-49479680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49480032-49480778 Neighboring gene uncharacterized LOC124904929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49486444-49487157 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49487158-49487870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49488585-49489297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49491439-49492150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49492678-49493258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49495917-49496418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49496419-49496918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49541986-49542486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49542487-49542987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13033 Neighboring gene activity dependent neuroprotector homeobox Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:49546803-49547593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18107 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:49548232-49548419 Neighboring gene proteasome 26S subunit, non-ATPase, 10 pseudogene 1 Neighboring gene ADNP antisense RNA 1 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 1, catalytic

    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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    Related articles in PubMed

    1. Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer. Bärlund M, et al. Genes Chromosomes Cancer, 2002 Dec. PMID 12378525
    2. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
    3. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    4. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BCAS3 (17q23) and BCAS4 (20q13) undergo amplification, overexpression, and fusion in breast cancer.
      Title: Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20495

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BLOC-1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    breast carcinoma-amplified sequence 4
    Names
    BCAS4/BCAS3 fusion
    breast carcinoma amplified sequence 4/3 fusion protein

    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_001010974.2 → NP_001010974.1  breast carcinoma-amplified sequence 4 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AF361220, BC056883, BP212127
      UniProtKB/Swiss-Prot
      Q8TDM0

    2. NM_017843.4 → NP_060313.3  breast carcinoma-amplified sequence 4 isoform a

      See identical proteins and their annotated locations for NP_060313.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF361220, BC056883, BP212127
      Consensus CDS
      CCDS33487.1
      UniProtKB/Swiss-Prot
      Q5TD52, Q5TD53, Q5TD54, Q5U5K7, Q5XKE8, Q8IXI7, Q8NEZ6, Q8TDM0, Q9NX13, Q9Y511
      UniProtKB/TrEMBL
      A0A0C4DGS6
      Related
      ENSP00000351642.5, ENST00000358791.9

    3. NM_198799.4 → NP_942094.3  breast carcinoma-amplified sequence 4 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AL031680, AL133228
      Consensus CDS
      CCDS13432.3
      UniProtKB/TrEMBL
      A0A804CEY2
      Related
      ENSP00000360669.3, ENST00000371608.8

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      50794894..50882676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528887.3 → XP_011527189.1  breast carcinoma-amplified sequence 4 isoform X2

      See identical proteins and their annotated locations for XP_011527189.1

      UniProtKB/Swiss-Prot
      Q8TDM0

    2. XM_011528886.3 → XP_011527188.1  breast carcinoma-amplified sequence 4 isoform X1

    3. XM_017027932.2 → XP_016883421.1  breast carcinoma-amplified sequence 4 isoform X3

    4. XM_047440278.1 → XP_047296234.1  breast carcinoma-amplified sequence 4 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      52565311..52653289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323662.1 → XP_054179637.1  breast carcinoma-amplified sequence 4 isoform X2

    2. XM_054323661.1 → XP_054179636.1  breast carcinoma-amplified sequence 4 isoform X1

    3. XM_054323663.1 → XP_054179638.1  breast carcinoma-amplified sequence 4 isoform X3

    4. XM_054323664.1 → XP_054179639.1  breast carcinoma-amplified sequence 4 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDM0.1 GenPept UniProtKB/Swiss-Prot:Q8TDM0

    Gene LinkOut

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

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