splice_site_variant [SO_0001629]
A sequence variant that changes the first two or last two bases of an intron, or the 5th base from the start of the intron in the orientation of the transcript. EBI term - essential splice site - In the first 2 or the last 2 base pairs of an intron. The 5th base is on the donor (5’) side of the intron. Updated to b in line with Cancer Genome Project at the Sanger.
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_site_variant in VFB
VFB Term Json
{
"term": {
"core": {
"iri": "http://purl.obolibrary.org/obo/SO_0001629",
"symbol": "",
"types": [
"Entity",
"Class"
],
"short_form": "SO_0001629",
"label": "splice_site_variant"
},
"description": [
"A sequence variant that changes the first two or last two bases of an intron, or the 5th base from the start of the intron in the orientation of the transcript."
],
"comment": [
"EBI term - essential splice site - In the first 2 or the last 2 base pairs of an intron. The 5th base is on the donor (5') side of the intron. Updated to b in line with Cancer Genome Project at the Sanger."
]
},
"query": "Get JSON for Class",
"version": "44725ae",
"parents": [
{
"symbol": "",
"iri": "http://purl.obolibrary.org/obo/SO_0001627",
"types": [
"Entity",
"Class"
],
"short_form": "SO_0001627",
"label": "intron_variant"
},
{
"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": "splice site variant",
"type": ""
},
"pub": {
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
"types": [
"Entity",
"Individual",
"pub"
],
"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
},
{
"synonym": {
"scope": "has_exact_synonym",
"label": "VAT:spliceOverlap",
"type": ""
},
"pub": {
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
"types": [
"Entity",
"Individual",
"pub"
],
"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
}
],
"def_pubs": [
{
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
"types": [
"Entity",
"Individual",
"pub"
],
"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
]
}
Feedback
Was this page helpful?
Glad to hear it! Please tell us how we can improve.
Sorry to hear that. Please tell us how we can improve.