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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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Fusion gene ID: 1582

FusionGeneSummary for AMACR_NDUFAF2

check button Fusion gene summary
Fusion gene informationFusion gene name: AMACR_NDUFAF2
Fusion gene ID: 1582
HgeneTgene
Gene symbol

AMACR

NDUFAF2

Gene ID

23600

91942

Gene namealpha-methylacyl-CoA racemaseNADH:ubiquinone oxidoreductase complex assembly factor 2
SynonymsAMACRD|CBAS4|P504S|RACE|RMB17.2L|MMTN|NDUFA12L|mimitin
Cytomap

5p13.2

5q12.1

Type of geneprotein-codingprotein-coding
Descriptionalpha-methylacyl-CoA racemase2-methylacyl-CoA racemaseNADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2Myc-induced mitochondrial proteinNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2NADH dehydrogenase (ubiquinone) complex I, assembly factor 2NADH dehydrogenase 1
Modification date2018052220180523
UniProtAcc

Q9UHK6

Q8N183

Ensembl transtripts involved in fusion geneENST00000335606, ENST00000382072, 
ENST00000514195, ENST00000382085, 
ENST00000502637, ENST00000441713, 
ENST00000426255, ENST00000512079, 
ENST00000382068, 
ENST00000296597, 
ENST00000511107, ENST00000512623, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 4 X 3=72
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AMACR [Title/Abstract] AND NDUFAF2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneAMACR

GO:0008206

bile acid metabolic process

10655068


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVPRADTCGA-EJ-8474-01AAMACRchr5

33998746

-NDUFAF2chr5

60368952

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000335606ENST00000296597AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-intronENST00000335606ENST00000511107AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-3UTRENST00000335606ENST00000512623AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
Frame-shiftENST00000382072ENST00000296597AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-intronENST00000382072ENST00000511107AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-3UTRENST00000382072ENST00000512623AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5UTR-3CDSENST00000514195ENST00000296597AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5UTR-intronENST00000514195ENST00000511107AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5UTR-3UTRENST00000514195ENST00000512623AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
In-frameENST00000382085ENST00000296597AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-intronENST00000382085ENST00000511107AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-3UTRENST00000382085ENST00000512623AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
In-frameENST00000502637ENST00000296597AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-intronENST00000502637ENST00000511107AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-3UTRENST00000502637ENST00000512623AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
Frame-shiftENST00000441713ENST00000296597AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-intronENST00000441713ENST00000511107AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-3UTRENST00000441713ENST00000512623AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
In-frameENST00000426255ENST00000296597AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-intronENST00000426255ENST00000511107AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-3UTRENST00000426255ENST00000512623AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
In-frameENST00000512079ENST00000296597AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-intronENST00000512079ENST00000511107AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-3UTRENST00000512079ENST00000512623AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
Frame-shiftENST00000382068ENST00000296597AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-intronENST00000382068ENST00000511107AMACRchr5

33998746

-NDUFAF2chr5

60368952

+
5CDS-3UTRENST00000382068ENST00000512623AMACRchr5

33998746

-NDUFAF2chr5

60368952

+

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FusionProtFeatures for AMACR_NDUFAF2


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

Q9UHK6

NDUFAF2

Q8N183

Acts as a molecular chaperone for mitochondrial complexI assembly (PubMed:16200211). Complex I functions in the transferof electrons from NADH to the respiratory chain. The immediateelectron acceptor for the enzyme is believed to be ubiquinone(PubMed:16200211, PubMed:27626371). {ECO:0000269|PubMed:16200211,ECO:0000269|PubMed:27626371}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAMACRchr5:33998746chr5:60368952ENST00000335606-45380_382246383MotifNote=Microbody targeting signal
HgeneAMACRchr5:33998746chr5:60368952ENST00000382072-34380_382192199MotifNote=Microbody targeting signal
HgeneAMACRchr5:33998746chr5:60368952ENST00000382085-46380_382246395MotifNote=Microbody targeting signal
HgeneAMACRchr5:33998746chr5:60368952ENST00000441713-34380_382192230MotifNote=Microbody targeting signal


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FusionGeneSequence for AMACR_NDUFAF2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_AMACR_ENST00000335606_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_374aa
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQL
GPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQFYELLIKGQTIREKRIVEAANKKEVDYEAGD
IPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQP

>In-frame_AMACR_ENST00000382085_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_374aa
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQL
GPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQFYELLIKGQTIREKRIVEAANKKEVDYEAGD
IPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQP

>In-frame_AMACR_ENST00000502637_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_359aa
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQL
GPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQFYELLIKGQTIREKRIVEAANKKEVDYEAGDIPTEWEAWIRRTRKT

>In-frame_AMACR_ENST00000426255_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_374aa
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQL
GPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQFYELLIKGQTIREKRIVEAANKKEVDYEAGD
IPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQP

>In-frame_AMACR_ENST00000512079_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_374aa
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQL
GPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQFYELLIKGQTIREKRIVEAANKKEVDYEAGD
IPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_AMACR_ENST00000335606_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1122nt
ATGGCACTGCAGGGCATCTCGGTCGTGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTCGGGGCGCGT
GTGGTACGCGTGGACCGGCCCGGCTCCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCG
CGGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAACTCCAGCTG
GGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCT
GGCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCCTG
GCTGACTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGTCAGGTCATT
GATGCAAATATGGTGGAAGGAACAGCATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAATTGAGTCTGTGGGAAGCACCTCGAGGACAG
AACATGTTGGATGGTGGAGCACCTTTCTATACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTC
TACGAGCTGCTGATCAAAGGACAAACTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGAT
ATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAA
GAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAA
ACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACCTTTCAGCCA

>In-frame_AMACR_ENST00000382085_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1122nt
ATGGCACTGCAGGGCATCTCGGTCGTGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTCGGGGCGCGT
GTGGTACGCGTGGACCGGCCCGGCTCCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCG
CGGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAACTCCAGCTG
GGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCT
GGCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCCTG
GCTGACTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGTCAGGTCATT
GATGCAAATATGGTGGAAGGAACAGCATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAATTGAGTCTGTGGGAAGCACCTCGAGGACAG
AACATGTTGGATGGTGGAGCACCTTTCTATACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTC
TACGAGCTGCTGATCAAAGGACAAACTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGAT
ATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAA
GAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAA
ACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACCTTTCAGCCA

>In-frame_AMACR_ENST00000502637_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1077nt
ATGGCACTGCAGGGCATCTCGGTCGTGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTCGGGGCGCGT
GTGGTACGCGTGGACCGGCCCGGCTCCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCG
CGGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAACTCCAGCTG
GGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCT
GGCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCCTG
GCTGACTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGTCAGGTCATT
GATGCAAATATGAAATTGAGTCTGTGGGAAGCACCTCGAGGACAGAACATGTTGGATGGTGGAGCACCTTTCTATACGACTTACAGGACA
GCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTCTACGAGCTGCTGATCAAAGGACAAACTATTCGAGAGAAAAGAATT
GTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGATATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACT
CCACCTACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAAGAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTC
CTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAAACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAA

>In-frame_AMACR_ENST00000426255_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1122nt
ATGGCACTGCAGGGCATCTCGGTCGTGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTCGGGGCGCGT
GTGGTACGCGTGGACCGGCCCGGCTCCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCG
CGGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAACTCCAGCTG
GGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCT
GGCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCCTG
GCTGACTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGTCAGGTCATT
GATGCAAATATGGTGGAAGGAACAGCATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAATTGAGTCTGTGGGAAGCACCTCGAGGACAG
AACATGTTGGATGGTGGAGCACCTTTCTATACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTC
TACGAGCTGCTGATCAAAGGACAAACTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGAT
ATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAA
GAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAA
ACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACCTTTCAGCCA

>In-frame_AMACR_ENST00000512079_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1122nt
ATGGCACTGCAGGGCATCTCGGTCGTGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTCGGGGCGCGT
GTGGTACGCGTGGACCGGCCCGGCTCCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCG
CGGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAACTCCAGCTG
GGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCT
GGCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCCTG
GCTGACTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGTCAGGTCATT
GATGCAAATATGGTGGAAGGAACAGCATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAATTGAGTCTGTGGGAAGCACCTCGAGGACAG
AACATGTTGGATGGTGGAGCACCTTTCTATACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTC
TACGAGCTGCTGATCAAAGGACAAACTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGAT
ATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAA
GAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAA
ACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACCTTTCAGCCA


* Fusion transcript sequences (Full-length transcript).
>In-frame_AMACR_ENST00000335606_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1282nt
GGCGCCGGGGATTGGGAGGGCTTCTTGCAGGCTGCTGGGCTGGGGCTAAGGGCTGCTCAGTTTCCTTCAGCGGGGCACTGGGAAGCGCCA
TGGCACTGCAGGGCATCTCGGTCGTGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTCGGGGCGCGTG
TGGTACGCGTGGACCGGCCCGGCTCCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCGC
GGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAACTCCAGCTGG
GCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTG
GCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCCTGG
CTGACTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGTCAGGTCATTG
ATGCAAATATGGTGGAAGGAACAGCATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAATTGAGTCTGTGGGAAGCACCTCGAGGACAGA
ACATGTTGGATGGTGGAGCACCTTTCTATACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTCT
ACGAGCTGCTGATCAAAGGACAAACTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGATA
TTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAAG
AAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAAA
CTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACCTTTCAGCCAG
GATCCTGGATGCCACGAGATGGCAAGAGCCACAATCAATGAATGCATTATGGTCAAATCTTTTCATGTATATGGATGTGACTATTTTAAC

>In-frame_AMACR_ENST00000382085_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1202nt
GGAAGCGCCATGGCACTGCAGGGCATCTCGGTCGTGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTC
GGGGCGCGTGTGGTACGCGTGGACCGGCCCGGCTCCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTG
AAGCAGCCGCGGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAA
CTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGC
CGGTTAGCTGGCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTG
AATCTCCTGGCTGACTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGT
CAGGTCATTGATGCAAATATGGTGGAAGGAACAGCATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAATTGAGTCTGTGGGAAGCACCT
CGAGGACAGAACATGTTGGATGGTGGAGCACCTTTCTATACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAA
CCCCAGTTCTACGAGCTGCTGATCAAAGGACAAACTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAA
GCAGGGGATATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAA
CACAGAGAAGAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCA
CCAGTTCAAACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACC
TTTCAGCCAGGATCCTGGATGCCACGAGATGGCAAGAGCCACAATCAATGAATGCATTATGGTCAAATCTTTTCATGTATATGGATGTGA

>In-frame_AMACR_ENST00000502637_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1233nt
CCGGGGATTGGGAGGGCTTCTTGCAGGCTGCTGGGCTGGGGCTAAGGGCTGCTCAGTTTCCTTCAGCGGGGCACTGGGAAGCGCCATGGC
ACTGCAGGGCATCTCGGTCGTGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTCGGGGCGCGTGTGGT
ACGCGTGGACCGGCCCGGCTCCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCGCGGGG
AGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAACTCCAGCTGGGCCC
AGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCA
CGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCCTGGCTGA
CTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGTCAGGTCATTGATGC
AAATATGAAATTGAGTCTGTGGGAAGCACCTCGAGGACAGAACATGTTGGATGGTGGAGCACCTTTCTATACGACTTACAGGACAGCAGA
TGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTCTACGAGCTGCTGATCAAAGGACAAACTATTCGAGAGAAAAGAATTGTAGA
AGCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGATATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACC
TACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAAGAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAG
TAAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAAACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACC
CTCAGTGGCTCCCAGCAGCACTGGTAAAACCTTTCAGCCAGGATCCTGGATGCCACGAGATGGCAAGAGCCACAATCAATGAATGCATTA

>In-frame_AMACR_ENST00000426255_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1258nt
TTGCAGGCTGCTGGGCTGGGGCTAAGGGCTGCTCAGTTTCCTTCAGCGGGGCACTGGGAAGCGCCATGGCACTGCAGGGCATCTCGGTCG
TGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTCGGGGCGCGTGTGGTACGCGTGGACCGGCCCGGCT
CCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCGCGGGGAGCCGCCGTGCTGCGGCGTC
TGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAA
ATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCACGATATCAACTATTTGGCTT
TGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCCTGGCTGACTTTGCTGGTGGTGGCCTTA
TGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGTCAGGTCATTGATGCAAATATGGTGGAAGGAACAG
CATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAATTGAGTCTGTGGGAAGCACCTCGAGGACAGAACATGTTGGATGGTGGAGCACCTT
TCTATACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTCTACGAGCTGCTGATCAAAGGACAAA
CTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGATATTCCAACAGAATGGGAAGCTTGGA
TTAGAAGAACAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAAGAAATCAAAATAAAAAGCCAAGATT
TTTATGAAAAAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAAACTCAAATTAAAGGCCATGCCTCTG
CTCCATACTTTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACCTTTCAGCCAGGATCCTGGATGCCACGAGATGGCA

>In-frame_AMACR_ENST00000512079_chr5_33998746_-_NDUFAF2_ENST00000296597_chr5_60368952_+_1202nt
GGAAGCGCCATGGCACTGCAGGGCATCTCGGTCGTGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGTGCTATGGTCCTGGCTGACTTC
GGGGCGCGTGTGGTACGCGTGGACCGGCCCGGCTCCCGCTACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTG
AAGCAGCCGCGGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTCCGCCGCGGTGTCATGGAGAAA
CTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGC
CGGTTAGCTGGCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTG
AATCTCCTGGCTGACTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGGCAAGGGT
CAGGTCATTGATGCAAATATGGTGGAAGGAACAGCATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAATTGAGTCTGTGGGAAGCACCT
CGAGGACAGAACATGTTGGATGGTGGAGCACCTTTCTATACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAA
CCCCAGTTCTACGAGCTGCTGATCAAAGGACAAACTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAA
GCAGGGGATATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAA
CACAGAGAAGAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCA
CCAGTTCAAACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACC
TTTCAGCCAGGATCCTGGATGCCACGAGATGGCAAGAGCCACAATCAATGAATGCATTATGGTCAAATCTTTTCATGTATATGGATGTGA


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FusionGenePPI for AMACR_NDUFAF2


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
AMACRPEX5, FKBP5, HSP90AA5P, PSMG3, PSMG4NDUFAF2ACOT13, CDV3, RPS24, RPS26, PPIF, SUGP2, SON, ATXN3, CHST15, COQ9, C15orf48, NDUFA4, PTPMT1, COQ2, CBLN4


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for AMACR_NDUFAF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for AMACR_NDUFAF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAMACRC0033578Prostatic Neoplasms3CTD_human
HgeneAMACRC0023893Liver Cirrhosis, Experimental2CTD_human
HgeneAMACRC3280428Alpha-Methylacyl-CoA Racemase Deficiency2UNIPROT
HgeneAMACRC0001430Adenoma1CTD_human
HgeneAMACRC0009404Colorectal Neoplasms1CTD_human
HgeneAMACRC0023895Liver diseases1CTD_human
HgeneAMACRC0027888Hereditary Motor and Sensory Neuropathies1CTD_human
HgeneAMACRC0036341Schizophrenia1PSYGENET
HgeneAMACRC1858328Bile acid synthesis defect, congenital, 41CTD_human;ORPHANET;UNIPROT
TgeneNDUFAF2C0752109Brain Diseases, Metabolic, Inborn1CTD_human