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MYOCOS myocilin opposite strand [ Homo sapiens (human) ]

Gene ID: 110806290, updated on 15-Mar-2024

Summary

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Official Symbol
MYOCOSprovided by HGNC
Official Full Name
myocilin opposite strandprovided by HGNC
Primary source
HGNC:HGNC:53429
See related
Ensembl:ENSG00000283683 AllianceGenome:HGNC:53429
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
Orthologs
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Genomic context

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Location:
1q24.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (171600872..171626888)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (170957336..170983353)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (171588903..171596028)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 425, pseudogene Neighboring gene proline rich coiled-coil 2C Neighboring gene NANOG hESC enhancer GRCh37_chr1:171475977-171476512 Neighboring gene U6 spliceosomal RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr1:171489309-171489479 Neighboring gene MPRA-validated peak453 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:171613996-171614502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:171614503-171615009 Neighboring gene myocilin Neighboring gene profilin 1 pseudogene 1

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
  • 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

Phenotypes

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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)

General gene information

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Homology

General protein information

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Preferred Names
myocilin opposite strand 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_001368164.1 → NP_001355093.1  myocilin opposite strand protein

    Status: VALIDATED

    Source sequence(s)
    Z98750
    Consensus CDS
    CCDS91106.1
    UniProtKB/Swiss-Prot
    A0A1B0GTE5, A0A1B0GUC4

  2. NM_001391940.1 → NP_001378869.1  myocilin opposite strand protein

    Status: VALIDATED

    Source sequence(s)
    Z98750
    Consensus CDS
    CCDS91106.1
    UniProtKB/Swiss-Prot
    A0A1B0GTE5, A0A1B0GUC4
    Related
    ENSP00000490820.1, ENST00000637642.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    171600872..171626888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442427.1 → XP_047298383.1  myocilin opposite strand protein isoform X1

    UniProtKB/Swiss-Prot
    A0A1B0GTE5, A0A1B0GUC4
    Related
    ENSP00000489662.1, ENST00000636697.1

  2. XM_047442463.1 → XP_047298419.1  myocilin opposite strand protein isoform X1

    UniProtKB/Swiss-Prot
    A0A1B0GTE5, A0A1B0GUC4
    Related
    ENSP00000490102.1, ENST00000636788.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    170957336..170983353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333970.1 → XP_054189945.1  myocilin opposite strand protein isoform X1

    UniProtKB/Swiss-Prot
    A0A1B0GTE5, A0A1B0GUC4

  2. XM_054333971.1 → XP_054189946.1  myocilin opposite strand protein isoform X1

    UniProtKB/Swiss-Prot
    A0A1B0GTE5, A0A1B0GUC4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A1B0GUC4.3 GenPept UniProtKB/Swiss-Prot:A0A1B0GUC4

Gene LinkOut

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