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    MYB MYB proto-oncogene, transcription factor [ Homo sapiens (human) ]

    Gene ID: 4602, updated on 10-Dec-2024

    Summary

    Official Symbol
    MYBprovided by HGNC
    Official Full Name
    MYB proto-oncogene, transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:7545
    See related
    Ensembl:ENSG00000118513 MIM:189990; AllianceGenome:HGNC:7545
    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
    efg; Cmyb; c-myb; c-myb_CDS
    Summary
    This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in bone marrow (RPKM 21.6), colon (RPKM 12.6) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYB in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (135181308..135219172)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (136369551..136407418)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (135502446..135540310)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901405 Neighboring gene uncharacterized LOC124901406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25099 Neighboring gene uncharacterized LOC105378010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25100 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:135491500-135491716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25102 Neighboring gene Sharpr-MPRA regulatory region 12483 Neighboring gene uncharacterized LOC105378011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25104 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:135570900-135572099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:135573042-135573542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:135573543-135574043 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:135577907-135579106 Neighboring gene microRNA 548a-2 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:135585007-135585209 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:135591948-135592842 Neighboring gene VISTA enhancer hs1351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25105 Neighboring gene CRISPRi-validated MYB cis-regulatory element XLOC_042889 Neighboring gene uncharacterized LOC124901407 Neighboring gene Sharpr-MPRA regulatory region 12318 Neighboring gene Abelson helper integration site 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
    EBI GWAS Catalog
    A genome-wide association study of red blood cell traits using the electronic medical record.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
    EBI GWAS Catalog
    Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    EBI GWAS Catalog
    HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
    EBI GWAS Catalog
    Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    EBI GWAS Catalog
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Sequence variants in three loci influence monocyte counts and erythrocyte volume.
    EBI GWAS Catalog
    Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in T-helper 2 cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in myeloid cell development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of hematopoietic progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of megakaryocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of hepatic stellate cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of hepatic stellate cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of miRNA transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of testosterone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transforming growth factor beta production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex EXP
    Inferred from Experiment
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    transcriptional activator Myb
    Names
    MYB-GATA1 fusion protein
    oncogene AMV
    proto-oncogene c-Myb
    v-myb avian myeloblastosis viral oncogene homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_012330.1 RefSeqGene

      Range
      4994..42858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130172.2NP_001123644.1  transcriptional activator Myb isoform 3

      See identical proteins and their annotated locations for NP_001123644.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as 8) uses an alternate in-frame splice site and lacks an in-frame exon compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AJ606320, AL023693, D25774
      Consensus CDS
      CCDS47482.1
      UniProtKB/TrEMBL
      Q708J0
      Related
      ENSP00000410825.2, ENST00000442647.7
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:398559
      Cmyb_C; C-myb, C-terminal
    2. NM_001130173.2NP_001123645.1  transcriptional activator Myb isoform 1

      See identical proteins and their annotated locations for NP_001123645.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as 9Aii) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AJ606319, AL023693, D25774
      Consensus CDS
      CCDS47481.1
      UniProtKB/TrEMBL
      Q708J0
      Related
      ENSP00000339992.5, ENST00000341911.10
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:518683
      Cmyb_C; C-myb, C-terminal
    3. NM_001161656.2NP_001155128.1  transcriptional activator Myb isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as E8SE9B) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55058.1
      UniProtKB/TrEMBL
      Q708J0
      Related
      ENSP00000434723.1, ENST00000528774.5
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:515680
      Cmyb_C; C-myb, C-terminal
    4. NM_001161657.2NP_001155129.1  transcriptional activator Myb isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as DelE9) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55061.1
      UniProtKB/TrEMBL
      Q708J0
      Related
      ENSP00000435938.1, ENST00000525369.5
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:317477
      Cmyb_C; C-myb, C-terminal
    5. NM_001161658.2NP_001155130.1  transcriptional activator Myb isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as E9S-48E9B) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55059.1
      UniProtKB/TrEMBL
      Q708J0
      Related
      ENSP00000432851.1, ENST00000534121.5
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:502667
      Cmyb_C; C-myb, C-terminal
    6. NM_001161659.2NP_001155131.1  transcriptional activator Myb isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7, also known as DelE13) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (7) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55060.1
      UniProtKB/TrEMBL
      Q708J0
      Related
      ENSP00000435055.1, ENST00000534044.5
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:401530
      Cmyb_C; C-myb, C-terminal
    7. NM_001161660.2NP_001155132.1  transcriptional activator Myb isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8, also known as DelE8) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (8) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55062.1
      UniProtKB/TrEMBL
      Q708J0
      Related
      ENSP00000436605.1, ENST00000533624.5
      Conserved Domains (3) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam09316
      Location:366527
      Cmyb_C; C-myb, C-terminal
    8. NM_005375.4NP_005366.2  transcriptional activator Myb isoform 2

      See identical proteins and their annotated locations for NP_005366.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as M15024) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL023693, BC064955, D25774, X52125
      Consensus CDS
      CCDS5174.1
      UniProtKB/Swiss-Prot
      E9PI07, E9PLZ5, E9PNA4, E9PNL6, E9PRS2, P10242, P78391, P78392, P78525, P78526, Q14023, Q14024, Q708E4, Q708E7, Q9UE83
      UniProtKB/TrEMBL
      Q708E9, Q708J0
      Related
      ENSP00000356788.4, ENST00000367814.8
      Conserved Domains (4) summary
      pfam00249
      Location:4086
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:401563
      Cmyb_C; C-myb, C-terminal
      cl28544
      Location:89202
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

    RNA

    1. NR_134958.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9, also known as E8A) contains an alternate exon and lacks an exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, AL023693, D25774
      Related
      ENST00000525477.5
    2. NR_134959.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10, also known as E8SE8A) uses an alternate splice site, lacks an exon, and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606321, AL023693, D25774
      Related
      ENST00000463282.6
    3. NR_134960.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11, also known as E10A) lacks an exon and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606322, AL023693, D25774
      Related
      ENST00000339290.9
    4. NR_134961.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12, also known as E9A or 9Ai) lacks an exon and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606318, AL023693, D25774
      Related
      ENST00000533837.5
    5. NR_134962.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13, also known as DelE5E8A) lacks two exons and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, AJ606318, AL023693, AY787446, D25774, X52125
    6. NR_134963.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14, also known as E12L-1) lacks an exon and uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, AL023693, AY787451, D25774, X52125
      Related
      ENST00000616088.4
    7. NR_134964.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15, also known as E8SE10A) uses an alternate splice site, lacks an exon, and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, AL023693, AY787458, D25774
      Related
      ENST00000526889.5
    8. NR_134965.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16, also known as E8AE10A) lacks an exon and contains two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, AL023693, AY787456, D25774
      Related
      ENST00000525514.5

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      135181308..135219172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418834.1XP_047274790.1  transcriptional activator Myb isoform X1

      UniProtKB/TrEMBL
      Q708J0

    RNA

    1. XR_942444.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      136369551..136407418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355522.1XP_054211497.1  transcriptional activator Myb isoform X3

    2. XM_054355521.1XP_054211496.1  transcriptional activator Myb isoform X2

    3. XM_054355523.1XP_054211498.1  transcriptional activator Myb isoform X4

    4. XM_054355524.1XP_054211499.1  transcriptional activator Myb isoform X1

      UniProtKB/TrEMBL
      Q708J0

    RNA

    1. XR_008487336.1 RNA Sequence