splice_region_variant [SO_0001630]
A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron. EBI term: splice site - 1-3 bps into an exon or 3-8 bps into an intron.
Note
This page displays the raw VFB json record for this term. Please use the link below to open the term inside the Virtual Fly Brain viewerOpen splice_region_variant in VFB
VFB Term Json
{
"term": {
"core": {
"iri": "http://purl.obolibrary.org/obo/SO_0001630",
"symbol": "",
"types": [
"Entity",
"Class"
],
"short_form": "SO_0001630",
"label": "splice_region_variant"
},
"description": [
"A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron."
],
"comment": [
"EBI term: splice site - 1-3 bps into an exon or 3-8 bps into an intron."
]
},
"query": "Get JSON for Class",
"version": "44725ae",
"parents": [
{
"symbol": "",
"iri": "http://purl.obolibrary.org/obo/SO_0001568",
"types": [
"Entity",
"Class"
],
"short_form": "SO_0001568",
"label": "splicing_variant"
}
],
"relationships": [],
"xrefs": [],
"anatomy_channel_image": [],
"pub_syn": [
{
"synonym": {
"scope": "has_exact_synonym",
"label": "snpEff:SPLICE_SITE_REGION",
"type": ""
},
"pub": {
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
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"short_form": "Unattributed",
"label": ""
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"FlyBase": "",
"PubMed": "",
"DOI": ""
}
},
{
"synonym": {
"scope": "has_exact_synonym",
"label": "VAAST:splice_region_variant",
"type": ""
},
"pub": {
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"short_form": "Unattributed",
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}
},
{
"synonym": {
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"label": "VEP:splice_region_variant",
"type": ""
},
"pub": {
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"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
},
{
"synonym": {
"scope": "has_related_synonym",
"label": "snpEff:SPLICE_SITE_BRANCH_U12",
"type": ""
},
"pub": {
"core": {
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],
"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
},
{
"synonym": {
"scope": "has_related_synonym",
"label": "snpEff:SPLICE_SITE_BRANCH",
"type": ""
},
"pub": {
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
"types": [
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],
"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
},
{
"synonym": {
"scope": "has_related_synonym",
"label": "ANNOVAR:splicing",
"type": "http://purl.obolibrary.org/obo/so#VAR"
},
"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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