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    ST20-MTHFS ST20-MTHFS readthrough [ Homo sapiens (human) ]

    Gene ID: 100528021, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ST20-MTHFSprovided by HGNC
    Official Full Name
    ST20-MTHFS readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:44655
    See related
    Ensembl:ENSG00000259332 AllianceGenome:HGNC:44655
    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
    MTHFS
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring suppressor of tumorigenicity 20 and 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) genes on chromosome 15. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in liver (RPKM 20.4), kidney (RPKM 11.5) and 23 other tissues See more
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    Genomic context

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    See ST20-MTHFS in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (79843547..79923092, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (77706557..77786041, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (80135889..80215434, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 667, pseudogene Neighboring gene uncharacterized LOC124903536 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80146049-80146550 Neighboring gene methenyltetrahydrofolate synthetase Neighboring gene Sharpr-MPRA regulatory region 2833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6725 Neighboring gene suppressor of tumorigenicity 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9936 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80216673-80217333 Neighboring gene ST20 antisense RNA 1 Neighboring gene farnesyl diphosphate synthase pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9937 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:80262962-80264161 Neighboring gene BCL2 related protein A1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide association study of chronic periodontitis in a general German population. Teumer A, et al. J Clin Periodontol, 2013 Nov. PMID 24024966

    GeneRIFs: Gene References Into Functions

    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
    Genome-wide association study of chronic periodontitis in a general German population.
    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)

    General gene information

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    Markers

    Readthrough ST20-MTHFS

    Included genes: MTHFS, ST20

    General protein information

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    Preferred Names
    ST20-MTHFS protein
    Names
    5,10-methenyl-tetrahydrofolate synthetase
    5-formyltetrahydrofolate cyclo-ligase
    Methenyl-THF synthetase
    NP_001186689.1

    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_001199760.2 → NP_001186689.1  ST20-MTHFS protein

      Status: VALIDATED

      Source sequence(s)
      AC021483, CK002935
      UniProtKB/TrEMBL
      A0A0A6YYL1, Q96EE9
      Related
      ENSP00000489525.1, ENST00000615374.5
      Conserved Domains (1) summary
      pfam01812
      Location:2 → 174
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      79843547..79923092 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      77706557..77786041 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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