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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:KIF1A-C2orf54

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KIF1A-C2orf54
FusionPDB ID: 42590
FusionGDB2.0 ID: 42590
HgeneTgene
Gene symbol

KIF1A

C2orf54

Gene ID

547

79919

Gene namekinesin family member 1Amab-21 like 4
SynonymsATSV|C2orf20|HSN2C|MRD9|SPG30|UNC104C2orf54
Cytomap

2q37.3

2q37.3

Type of geneprotein-codingprotein-coding
Descriptionkinesin-like protein KIF1Aaxonal transporter of synaptic vesicleskinesin, heavy chain, member 1A, homolog of mousemicrotubule-based motor KIF1Aunc-104- and KIF1A-related proteinprotein mab-21-like 4uncharacterized protein C2orf54
Modification date2020032020200313
UniProtAcc

Q12756

.
Ensembl transtripts involved in fusion geneENST idsENST00000320389, ENST00000498729, 
ENST00000307486, ENST00000388934, 
ENST00000402775, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 8 X 3=1201 X 1 X 2=2
# samples 83
** MAII scorelog2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/2*10)=3.90689059560852
Context (manual curation of fusion genes in FusionPDB)

PubMed: KIF1A [Title/Abstract] AND C2orf54 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KIF1A(241682346)-C2orf54(241831180), # samples:3
KIF1A(241697777)-C2orf54(241831180), # samples:3
Anticipated loss of major functional domain due to fusion event.KIF1A-C2orf54 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KIF1A-C2orf54 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KIF1A-C2orf54 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
KIF1A-C2orf54 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across KIF1A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across C2orf54 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUADTCGA-NJ-A4YF-01AKIF1Achr2

241682346

-C2orf54chr2

241831180

-
ChimerDB4LUADTCGA-NJ-A4YFKIF1Achr2

241682345

-C2orf54chr2

241831180

-
ChimerDB4UCECTCGA-A5-A7WK-01AKIF1Achr2

241697777

-C2orf54chr2

241831180

-
ChimerDB4UCECTCGA-A5-A7WKKIF1Achr2

241697777

-C2orf54chr2

241831180

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000498729KIF1Achr2241682346-ENST00000402775C2orf54chr2241831180-5739388724747161489
ENST00000498729KIF1Achr2241682346-ENST00000307486C2orf54chr2241831180-5738388724747161489
ENST00000498729KIF1Achr2241682346-ENST00000388934C2orf54chr2241831180-5125388724747161489
ENST00000320389KIF1Achr2241697777-ENST00000402775C2orf54chr2241831180-456627141592873904
ENST00000320389KIF1Achr2241697777-ENST00000307486C2orf54chr2241831180-456527141592873904
ENST00000320389KIF1Achr2241697777-ENST00000388934C2orf54chr2241831180-395227141592873904
ENST00000498729KIF1Achr2241697777-ENST00000402775C2orf54chr2241831180-468128292472988913
ENST00000498729KIF1Achr2241697777-ENST00000307486C2orf54chr2241831180-468028292472988913
ENST00000498729KIF1Achr2241697777-ENST00000388934C2orf54chr2241831180-406728292472988913
ENST00000498729KIF1Achr2241682345-ENST00000402775C2orf54chr2241831180-5739388724747161489
ENST00000498729KIF1Achr2241682345-ENST00000307486C2orf54chr2241831180-5738388724747161489
ENST00000498729KIF1Achr2241682345-ENST00000388934C2orf54chr2241831180-5125388724747161489

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000498729ENST00000402775KIF1Achr2241682346-C2orf54chr2241831180-0.0020312470.99796873
ENST00000498729ENST00000307486KIF1Achr2241682346-C2orf54chr2241831180-0.0020437610.9979563
ENST00000498729ENST00000388934KIF1Achr2241682346-C2orf54chr2241831180-0.0034048640.9965951
ENST00000320389ENST00000402775KIF1Achr2241697777-C2orf54chr2241831180-0.004147910.9958521
ENST00000320389ENST00000307486KIF1Achr2241697777-C2orf54chr2241831180-0.0041786690.99582136
ENST00000320389ENST00000388934KIF1Achr2241697777-C2orf54chr2241831180-0.0076532410.99234676
ENST00000498729ENST00000402775KIF1Achr2241697777-C2orf54chr2241831180-0.0034511680.99654883
ENST00000498729ENST00000307486KIF1Achr2241697777-C2orf54chr2241831180-0.0034757770.99652416
ENST00000498729ENST00000388934KIF1Achr2241697777-C2orf54chr2241831180-0.0061441720.9938558
ENST00000498729ENST00000402775KIF1Achr2241682345-C2orf54chr2241831180-0.0020312470.99796873
ENST00000498729ENST00000307486KIF1Achr2241682345-C2orf54chr2241831180-0.0020437610.9979563
ENST00000498729ENST00000388934KIF1Achr2241682345-C2orf54chr2241831180-0.0034048640.9965951

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>42590_42590_1_KIF1A-C2orf54_KIF1A_chr2_241682345_ENST00000498729_C2orf54_chr2_241831180_ENST00000307486_length(amino acids)=1489AA_BP=1213
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGSSAISGCNSYPLLNTCMSERMAALTPSPTFSSPDSDATEP
AEEQSVGEEEEEEEEEEDEEEEDLEDDVFPEHALCDGRDPFYDRPPLFSLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQA
ISADEEAPDYGSGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSE
KAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKS
QPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPGSLNAASLREEQLHLSLLVSSGWRTISFHVVPVVRRKLGAPALEGVQ
QMPGFPEGSLRRILSQGVDLVPASAQLWRTSTDYLLTRLLGELGSLQGHRLDSLSILDRVNHESWRDSGQTDGLTFGHLKMVLLWASVLF
LAPEDWAELQGAVYRLLVVLLCCLATRKLPHFLHPQRNLLQGSGLDLGAIYQRVEGFASQPEAALRIHATHLGRSPPPRIGSGLKALLQL

--------------------------------------------------------------

>42590_42590_2_KIF1A-C2orf54_KIF1A_chr2_241682345_ENST00000498729_C2orf54_chr2_241831180_ENST00000388934_length(amino acids)=1489AA_BP=1213
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGSSAISGCNSYPLLNTCMSERMAALTPSPTFSSPDSDATEP
AEEQSVGEEEEEEEEEEDEEEEDLEDDVFPEHALCDGRDPFYDRPPLFSLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQA
ISADEEAPDYGSGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSE
KAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKS
QPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPGSLNAASLREEQLHLSLLVSSGWRTISFHVVPVVRRKLGAPALEGVQ
QMPGFPEGSLRRILSQGVDLVPASAQLWRTSTDYLLTRLLGELGSLQGHRLDSLSILDRVNHESWRDSGQTDGLTFGHLKMVLLWASVLF
LAPEDWAELQGAVYRLLVVLLCCLATRKLPHFLHPQRNLLQGSGLDLGAIYQRVEGFASQPEAALRIHATHLGRSPPPRIGSGLKALLQL

--------------------------------------------------------------

>42590_42590_3_KIF1A-C2orf54_KIF1A_chr2_241682345_ENST00000498729_C2orf54_chr2_241831180_ENST00000402775_length(amino acids)=1489AA_BP=1213
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGSSAISGCNSYPLLNTCMSERMAALTPSPTFSSPDSDATEP
AEEQSVGEEEEEEEEEEDEEEEDLEDDVFPEHALCDGRDPFYDRPPLFSLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQA
ISADEEAPDYGSGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSE
KAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKS
QPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPGSLNAASLREEQLHLSLLVSSGWRTISFHVVPVVRRKLGAPALEGVQ
QMPGFPEGSLRRILSQGVDLVPASAQLWRTSTDYLLTRLLGELGSLQGHRLDSLSILDRVNHESWRDSGQTDGLTFGHLKMVLLWASVLF
LAPEDWAELQGAVYRLLVVLLCCLATRKLPHFLHPQRNLLQGSGLDLGAIYQRVEGFASQPEAALRIHATHLGRSPPPRIGSGLKALLQL

--------------------------------------------------------------

>42590_42590_4_KIF1A-C2orf54_KIF1A_chr2_241682346_ENST00000498729_C2orf54_chr2_241831180_ENST00000307486_length(amino acids)=1489AA_BP=1213
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGSSAISGCNSYPLLNTCMSERMAALTPSPTFSSPDSDATEP
AEEQSVGEEEEEEEEEEDEEEEDLEDDVFPEHALCDGRDPFYDRPPLFSLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQA
ISADEEAPDYGSGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSE
KAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKS
QPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPGSLNAASLREEQLHLSLLVSSGWRTISFHVVPVVRRKLGAPALEGVQ
QMPGFPEGSLRRILSQGVDLVPASAQLWRTSTDYLLTRLLGELGSLQGHRLDSLSILDRVNHESWRDSGQTDGLTFGHLKMVLLWASVLF
LAPEDWAELQGAVYRLLVVLLCCLATRKLPHFLHPQRNLLQGSGLDLGAIYQRVEGFASQPEAALRIHATHLGRSPPPRIGSGLKALLQL

--------------------------------------------------------------

>42590_42590_5_KIF1A-C2orf54_KIF1A_chr2_241682346_ENST00000498729_C2orf54_chr2_241831180_ENST00000388934_length(amino acids)=1489AA_BP=1213
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGSSAISGCNSYPLLNTCMSERMAALTPSPTFSSPDSDATEP
AEEQSVGEEEEEEEEEEDEEEEDLEDDVFPEHALCDGRDPFYDRPPLFSLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQA
ISADEEAPDYGSGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSE
KAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKS
QPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPGSLNAASLREEQLHLSLLVSSGWRTISFHVVPVVRRKLGAPALEGVQ
QMPGFPEGSLRRILSQGVDLVPASAQLWRTSTDYLLTRLLGELGSLQGHRLDSLSILDRVNHESWRDSGQTDGLTFGHLKMVLLWASVLF
LAPEDWAELQGAVYRLLVVLLCCLATRKLPHFLHPQRNLLQGSGLDLGAIYQRVEGFASQPEAALRIHATHLGRSPPPRIGSGLKALLQL

--------------------------------------------------------------

>42590_42590_6_KIF1A-C2orf54_KIF1A_chr2_241682346_ENST00000498729_C2orf54_chr2_241831180_ENST00000402775_length(amino acids)=1489AA_BP=1213
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGSSAISGCNSYPLLNTCMSERMAALTPSPTFSSPDSDATEP
AEEQSVGEEEEEEEEEEDEEEEDLEDDVFPEHALCDGRDPFYDRPPLFSLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQA
ISADEEAPDYGSGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSE
KAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKS
QPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPGSLNAASLREEQLHLSLLVSSGWRTISFHVVPVVRRKLGAPALEGVQ
QMPGFPEGSLRRILSQGVDLVPASAQLWRTSTDYLLTRLLGELGSLQGHRLDSLSILDRVNHESWRDSGQTDGLTFGHLKMVLLWASVLF
LAPEDWAELQGAVYRLLVVLLCCLATRKLPHFLHPQRNLLQGSGLDLGAIYQRVEGFASQPEAALRIHATHLGRSPPPRIGSGLKALLQL

--------------------------------------------------------------

>42590_42590_7_KIF1A-C2orf54_KIF1A_chr2_241697777_ENST00000320389_C2orf54_chr2_241831180_ENST00000307486_length(amino acids)=904AA_BP=851
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETEKIIAELNET
WEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEH
CVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAFAQRELLEKQ
GIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAFRKWKWYQFT
SLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWTLEKLRQRLD
LMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGRFAERGQPEGGAAPPVLAGVQRLENNQLPRGARGEKEAWGACPGGGAAD

--------------------------------------------------------------

>42590_42590_8_KIF1A-C2orf54_KIF1A_chr2_241697777_ENST00000320389_C2orf54_chr2_241831180_ENST00000388934_length(amino acids)=904AA_BP=851
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETEKIIAELNET
WEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEH
CVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAFAQRELLEKQ
GIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAFRKWKWYQFT
SLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWTLEKLRQRLD
LMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGRFAERGQPEGGAAPPVLAGVQRLENNQLPRGARGEKEAWGACPGGGAAD

--------------------------------------------------------------

>42590_42590_9_KIF1A-C2orf54_KIF1A_chr2_241697777_ENST00000320389_C2orf54_chr2_241831180_ENST00000402775_length(amino acids)=904AA_BP=851
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETEKIIAELNET
WEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEH
CVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAFAQRELLEKQ
GIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAFRKWKWYQFT
SLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWTLEKLRQRLD
LMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGRFAERGQPEGGAAPPVLAGVQRLENNQLPRGARGEKEAWGACPGGGAAD

--------------------------------------------------------------

>42590_42590_10_KIF1A-C2orf54_KIF1A_chr2_241697777_ENST00000498729_C2orf54_chr2_241831180_ENST00000307486_length(amino acids)=913AA_BP=860
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGRFAERGQPEGGAAPPVLAGVQRLENNQLPRGARGEKEAWG

--------------------------------------------------------------

>42590_42590_11_KIF1A-C2orf54_KIF1A_chr2_241697777_ENST00000498729_C2orf54_chr2_241831180_ENST00000388934_length(amino acids)=913AA_BP=860
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGRFAERGQPEGGAAPPVLAGVQRLENNQLPRGARGEKEAWG

--------------------------------------------------------------

>42590_42590_12_KIF1A-C2orf54_KIF1A_chr2_241697777_ENST00000498729_C2orf54_chr2_241831180_ENST00000402775_length(amino acids)=913AA_BP=860
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGRFAERGQPEGGAAPPVLAGVQRLENNQLPRGARGEKEAWG

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:241682346/chr2:241831180)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIF1A

Q12756

.
FUNCTION: Motor for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites. {ECO:0000250|UniProtKB:F1M4A4}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKIF1Achr2:241682345chr2:241831180ENST00000320389-3247366_3831112.33333333333331691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682345chr2:241831180ENST00000320389-3247429_4621112.33333333333331691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682345chr2:241831180ENST00000320389-3247622_6811112.33333333333331691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682345chr2:241831180ENST00000320389-3247801_8221112.33333333333331691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682345chr2:241831180ENST00000498729-3450366_3831213.33333333333332868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682345chr2:241831180ENST00000498729-3450429_4621213.33333333333332868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682345chr2:241831180ENST00000498729-3450622_6811213.33333333333332868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682345chr2:241831180ENST00000498729-3450801_8221213.33333333333332868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682346chr2:241831180ENST00000320389-3247366_3831112.33333333333331691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682346chr2:241831180ENST00000320389-3247429_4621112.33333333333331691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682346chr2:241831180ENST00000320389-3247622_6811112.33333333333331691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682346chr2:241831180ENST00000320389-3247801_8221112.33333333333331691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682346chr2:241831180ENST00000498729-3450366_3831213.33333333333332868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682346chr2:241831180ENST00000498729-3450429_4621213.33333333333332868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682346chr2:241831180ENST00000498729-3450622_6811213.33333333333332868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682346chr2:241831180ENST00000498729-3450801_8221213.33333333333332868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241697777chr2:241831180ENST00000320389-2547366_383851.66666666666661691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241697777chr2:241831180ENST00000320389-2547429_462851.66666666666661691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241697777chr2:241831180ENST00000320389-2547622_681851.66666666666661691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241697777chr2:241831180ENST00000320389-2547801_822851.66666666666661691.0Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241697777chr2:241831180ENST00000498729-2650366_383860.66666666666662868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241697777chr2:241831180ENST00000498729-2650429_462860.66666666666662868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241697777chr2:241831180ENST00000498729-2650622_681860.66666666666662868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241697777chr2:241831180ENST00000498729-2650801_822860.66666666666662868.3333333333335Coiled coilOntology_term=ECO:0000255
HgeneKIF1Achr2:241682345chr2:241831180ENST00000320389-3247516_5721112.33333333333331691.0DomainFHA
HgeneKIF1Achr2:241682345chr2:241831180ENST00000320389-32475_3541112.33333333333331691.0DomainKinesin motor
HgeneKIF1Achr2:241682345chr2:241831180ENST00000498729-3450516_5721213.33333333333332868.3333333333335DomainFHA
HgeneKIF1Achr2:241682345chr2:241831180ENST00000498729-34505_3541213.33333333333332868.3333333333335DomainKinesin motor
HgeneKIF1Achr2:241682346chr2:241831180ENST00000320389-3247516_5721112.33333333333331691.0DomainFHA
HgeneKIF1Achr2:241682346chr2:241831180ENST00000320389-32475_3541112.33333333333331691.0DomainKinesin motor
HgeneKIF1Achr2:241682346chr2:241831180ENST00000498729-3450516_5721213.33333333333332868.3333333333335DomainFHA
HgeneKIF1Achr2:241682346chr2:241831180ENST00000498729-34505_3541213.33333333333332868.3333333333335DomainKinesin motor
HgeneKIF1Achr2:241697777chr2:241831180ENST00000320389-2547516_572851.66666666666661691.0DomainFHA
HgeneKIF1Achr2:241697777chr2:241831180ENST00000320389-25475_354851.66666666666661691.0DomainKinesin motor
HgeneKIF1Achr2:241697777chr2:241831180ENST00000498729-2650516_572860.66666666666662868.3333333333335DomainFHA
HgeneKIF1Achr2:241697777chr2:241831180ENST00000498729-26505_354860.66666666666662868.3333333333335DomainKinesin motor
HgeneKIF1Achr2:241682345chr2:241831180ENST00000320389-324797_1041112.33333333333331691.0Nucleotide bindingATP
HgeneKIF1Achr2:241682345chr2:241831180ENST00000498729-345097_1041213.33333333333332868.3333333333335Nucleotide bindingATP
HgeneKIF1Achr2:241682346chr2:241831180ENST00000320389-324797_1041112.33333333333331691.0Nucleotide bindingATP
HgeneKIF1Achr2:241682346chr2:241831180ENST00000498729-345097_1041213.33333333333332868.3333333333335Nucleotide bindingATP
HgeneKIF1Achr2:241697777chr2:241831180ENST00000320389-254797_104851.66666666666661691.0Nucleotide bindingATP
HgeneKIF1Achr2:241697777chr2:241831180ENST00000498729-265097_104860.66666666666662868.3333333333335Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKIF1Achr2:241682345chr2:241831180ENST00000320389-32471575_16731112.33333333333331691.0DomainPH
HgeneKIF1Achr2:241682345chr2:241831180ENST00000498729-34501575_16731213.33333333333332868.3333333333335DomainPH
HgeneKIF1Achr2:241682346chr2:241831180ENST00000320389-32471575_16731112.33333333333331691.0DomainPH
HgeneKIF1Achr2:241682346chr2:241831180ENST00000498729-34501575_16731213.33333333333332868.3333333333335DomainPH
HgeneKIF1Achr2:241697777chr2:241831180ENST00000320389-25471575_1673851.66666666666661691.0DomainPH
HgeneKIF1Achr2:241697777chr2:241831180ENST00000498729-26501575_1673860.66666666666662868.3333333333335DomainPH


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>1707_KIF1A_241697777_C2orf54_241831180_ranked_0.pdbKIF1A241682345241697777ENST00000388934C2orf54chr2241831180-
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYN
VCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGAN
INKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGGPKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETE
KIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVL
SGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAF
AQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAF
RKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWT
LEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGRFAERGQPEGGAAPPVLAGVQRLENNQLPRGARGEKEAWG
913


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
KIF1A_pLDDT.png
all structure
all structure

all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
KIF1A
C2orf54


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to KIF1A-C2orf54


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to KIF1A-C2orf54


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource