5_prime_UTR_premature_start_codon_variant [SO_0001983]

A 5’ UTR variant where a premature start codon is introduced, moved or lost. Requested by Andy Menzies at the Sanger. This isn’t necessarily a protein coding change. A premature start codon can effect the production of a mature protein product by providing a competing translation start point. Some genes balance their expression this way, eg THPO requires the presence of a premature start to limit expression, its loss leads to Familial thrombocythemia.
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Open 5_prime_UTR_premature_start_codon_variant in VFB

VFB Term Json

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        "core": {
            "iri": "http://purl.obolibrary.org/obo/SO_0001983",
            "symbol": "",
            "types": [
                "Entity",
                "Class"
            ],
            "short_form": "SO_0001983",
            "label": "5_prime_UTR_premature_start_codon_variant"
        },
        "description": [
            "A 5' UTR variant where a premature start codon is introduced, moved or lost."
        ],
        "comment": [
            "Requested by Andy Menzies at the Sanger. This isn't necessarily a protein coding change. A premature start codon can effect the production of a mature protein product by providing a competing translation start point. Some genes balance their expression this way, eg THPO requires the presence of a premature start to limit expression, its loss leads to Familial thrombocythemia."
        ]
    },
    "query": "Get JSON for Class",
    "version": "44725ae",
    "parents": [
        {
            "symbol": "",
            "iri": "http://purl.obolibrary.org/obo/SO_0001623",
            "types": [
                "Entity",
                "Class"
            ],
            "short_form": "SO_0001623",
            "label": "5_prime_UTR_variant"
        }
    ],
    "relationships": [],
    "xrefs": [],
    "anatomy_channel_image": [],
    "pub_syn": [
        {
            "synonym": {
                "scope": "has_exact_synonym",
                "label": "5' UTR premature start codon variant",
                "type": ""
            },
            "pub": {
                "core": {
                    "symbol": "",
                    "iri": "http://flybase.org/reports/Unattributed",
                    "types": [
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                        "pub"
                    ],
                    "short_form": "Unattributed",
                    "label": ""
                },
                "FlyBase": "",
                "PubMed": "",
                "DOI": ""
            }
        }
    ],
    "def_pubs": [
        {
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                "iri": "http://flybase.org/reports/Unattributed",
                "types": [
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                "short_form": "Unattributed",
                "label": ""
            },
            "FlyBase": "",
            "PubMed": "",
            "DOI": ""
        }
    ]
}