Fusion Annotation
Available parameters and response documentation is available here
Path parameter format:
-
{gene1}::{gene2}/{ref_genome}(no breakpoints) {gene1(position1)}::{gene2(position2)}/{ref_genome}(with breakpoints).
chr<chromosome>:<coordinate> format.
GET /lookup/fusions/MN1(chr22:28194068)::ETV6(chr12:12022672)/hg19
{
"fusions": {},
"transcripts": [
{
"name": "NM_002430.3",
"strand": "-",
"start": 28144265,
"end": 28197744,
"cytoband": "22q12.1",
"mane_select": "ENST00000302326.5",
"total_coding_length": 3963,
"exon_count": 2,
"gene_id": 17086,
"gene_symbol": "MN1",
"canonical": true,
"coding_transcript": true,
"total_exon_length": 7814,
"version": "228",
"source": "RefSeq",
"chosen_transcript": false
},
{
"name": "NM_001413916.1",
"strand": "+",
"start": 11802608,
"end": 12024567,
"cytoband": "12p13.2",
"total_coding_length": 1017,
"exon_count": 5,
"gene_id": 7248,
"gene_symbol": "ETV6",
"coding_transcript": true,
"total_exon_length": 3127,
"version": "228",
"source": "RefSeq",
"chosen_transcript": false
},
{
"name": "NM_001413913.1",
"strand": "+",
"start": 11802608,
"end": 12048311,
"cytoband": "12p13.2",
"total_coding_length": 1356,
"exon_count": 8,
"gene_id": 7248,
"gene_symbol": "ETV6",
"coding_transcript": true,
"total_exon_length": 6141,
"version": "228",
"source": "RefSeq",
"chosen_transcript": false
},
{
"name": "NM_001413914.1",
"strand": "+",
"start": 11802608,
"end": 12048311,
"cytoband": "12p13.2",
"total_coding_length": 1332,
"exon_count": 9,
"gene_id": 7248,
"gene_symbol": "ETV6",
"coding_transcript": true,
"total_exon_length": 6269,
"version": "228",
"source": "RefSeq",
"chosen_transcript": false
},
{
"name": "NM_001413915.1",
"strand": "+",
"start": 11802608,
"end": 12048311,
"cytoband": "12p13.2",
"total_coding_length": 1095,
"exon_count": 7,
"gene_id": 7248,
"gene_symbol": "ETV6",
"coding_transcript": true,
"total_exon_length": 6014,
"version": "228",
"source": "RefSeq",
"chosen_transcript": false
},
{
"name": "NM_001413917.1",
"strand": "+",
"start": 11802608,
"end": 12048311,
"cytoband": "12p13.2",
"total_coding_length": 1017,
"exon_count": 6,
"gene_id": 7248,
"gene_symbol": "ETV6",
"coding_transcript": true,
"total_exon_length": 5900,
"version": "228",
"source": "RefSeq",
"chosen_transcript": false
},
{
"name": "NM_001987.5",
"strand": "+",
"start": 11802608,
"end": 12048311,
"cytoband": "12p13.2",
"mane_select": "ENST00000396373.9",
"total_coding_length": 1359,
"exon_count": 8,
"gene_id": 7248,
"gene_symbol": "ETV6",
"canonical": true,
"coding_transcript": true,
"total_exon_length": 6144,
"version": "228",
"source": "RefSeq",
"chosen_transcript": false
},
{
"name": "ENST00000302326.4",
"strand": "-",
"start": 28144265,
"end": 28197486,
"cytoband": "22q12.1",
"mane_select": "NM_002430.3",
"total_coding_length": 3963,
"exon_count": 2,
"gene_id": 17086,
"gene_symbol": "MN1",
"canonical": true,
"coding_transcript": true,
"total_exon_length": 7556,
"version": "113",
"source": "Ensembl",
"uniprot_id": "Q10571",
"ensembl_protein_id": "ENSP00000304956",
"ensembl_appris": "principal1",
"ensembl_support_level": 1,
"chosen_transcript": false
},
{
"name": "ENST00000396373.4",
"strand": "+",
"start": 11802788,
"end": 12048336,
"cytoband": "12p13.2",
"mane_select": "NM_001987.5",
"total_coding_length": 1359,
"exon_count": 8,
"gene_id": 7248,
"gene_symbol": "ETV6",
"canonical": true,
"coding_transcript": true,
"total_exon_length": 5989,
"version": "113",
"source": "Ensembl",
"uniprot_id": "P41212",
"ensembl_protein_id": "ENSP00000379658",
"ensembl_appris": "principal1",
"ensembl_support_level": 1,
"chosen_transcript": false
}
],
"fusion_parts": [
{
"transcript": {
"name": "NM_002430.3",
"strand": "-",
"start": 28144265,
"end": 28197744,
"cytoband": "22q12.1",
"mane_select": "ENST00000302326.5",
"total_coding_length": 3963,
"exon_count": 2,
"gene_id": 17086,
"gene_symbol": "MN1",
"canonical": true,
"coding_transcript": true,
"total_exon_length": 7814,
"version": "228",
"source": "RefSeq",
"subfeatures": [
{
"end": 28197744,
"start": 28196532,
"strand": -1,
"exon_index": 1,
"type": "five_prime_UTR"
},
{
"end": 28196531,
"start": 28192751,
"strand": -1,
"exon_index": 1,
"type": "CDS"
},
{
"end": 28147084,
"start": 28146903,
"strand": -1,
"exon_index": 2,
"type": "CDS"
},
{
"end": 28146902,
"start": 28144265,
"strand": -1,
"exon_index": 2,
"type": "three_prime_UTR"
}
]
},
"gene_symbol": "MN1",
"absolute_positon": 1672992697,
"is_main_part": true,
"pos": 28194068,
"gene_id": 17086,
"chromo": "chr22"
},
{
"transcript": {
"name": "NM_001987.5",
"strand": "+",
"start": 11802608,
"end": 12048311,
"cytoband": "12p13.2",
"mane_select": "ENST00000396373.9",
"total_coding_length": 1359,
"exon_count": 8,
"gene_id": 7248,
"gene_symbol": "ETV6",
"canonical": true,
"coding_transcript": true,
"total_exon_length": 6144,
"version": "228",
"source": "RefSeq",
"subfeatures": [
{
"end": 11803061,
"start": 11802608,
"strand": 1,
"exon_index": 1,
"type": "five_prime_UTR"
},
{
"end": 11803094,
"start": 11803062,
"strand": 1,
"exon_index": 1,
"type": "CDS"
},
{
"end": 11905513,
"start": 11905384,
"strand": 1,
"exon_index": 2,
"type": "CDS"
},
{
"end": 11992238,
"start": 11992074,
"strand": 1,
"exon_index": 3,
"type": "CDS"
},
{
"end": 12006495,
"start": 12006361,
"strand": 1,
"exon_index": 4,
"type": "CDS"
},
{
"end": 12022903,
"start": 12022358,
"strand": 1,
"exon_index": 5,
"type": "CDS"
},
{
"end": 12037521,
"start": 12037379,
"strand": 1,
"exon_index": 6,
"type": "CDS"
},
{
"end": 12038960,
"start": 12038860,
"strand": 1,
"exon_index": 7,
"type": "CDS"
},
{
"end": 12043980,
"start": 12043875,
"strand": 1,
"exon_index": 8,
"type": "CDS"
},
{
"end": 12048311,
"start": 12043981,
"strand": 1,
"exon_index": 8,
"type": "three_prime_UTR"
}
]
},
"gene_symbol": "ETV6",
"absolute_positon": 531854658,
"is_main_part": false,
"pos": 12022672,
"gene_id": 7248,
"chromo": "chr12"
}
]
}