Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:AKR1C1-PMM2 (FusionGDB2 ID:HG1645TG5373)

Fusion Gene Summary for AKR1C1-PMM2

check button Fusion gene summary
Fusion gene informationFusion gene name: AKR1C1-PMM2
Fusion gene ID: hg1645tg5373
HgeneTgene
Gene symbol

AKR1C1

PMM2

Gene ID

1645

5373

Gene namealdo-keto reductase family 1 member C1phosphomannomutase 2
Synonyms2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBABCDG1|CDG1a|CDGS|PMI|PMI1|PMM 2
Cytomap('AKR1C1')('PMM2')

10p15.1

16p13.2

Type of geneprotein-codingprotein-coding
Descriptionaldo-keto reductase family 1 member C120 alpha-hydroxysteroid dehydrogenasealdo-keto reductase Cchlordecone reductase homolog HAKRCdihydrodiol dehydrogenase 1dihydrodiol dehydrogenase 1/2dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroidphosphomannomutase 2mannose-6-phosphate isomerasephosphomannose isomerase 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000477661, ENST00000380872, 
ENST00000434459, ENST00000380859, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 1 X 4=16
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AKR1C1 [Title/Abstract] AND PMM2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKR1C1(5018125)-PMM2(8941581), # samples:1
Anticipated loss of major functional domain due to fusion event.AKR1C1-PMM2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
AKR1C1-PMM2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted 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
HgeneAKR1C1

GO:0007586

digestion

8486699

HgeneAKR1C1

GO:0008206

bile acid metabolic process

8486699

HgeneAKR1C1

GO:0030855

epithelial cell differentiation

21492153

HgeneAKR1C1

GO:0042448

progesterone metabolic process

21232532

HgeneAKR1C1

GO:0042574

retinal metabolic process

21851338

HgeneAKR1C1

GO:0055114

oxidation-reduction process

8486699|19442656|21232532

HgeneAKR1C1

GO:0071395

cellular response to jasmonic acid stimulus

19487289


check buttonFusion gene breakpoints across AKR1C1 (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 PMM2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BLCATCGA-ZF-AA4T-01AAKR1C1chr10

5018125

+PMM2chr16

8941581

+


Top

Fusion Gene ORF analysis for AKR1C1-PMM2

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
3UTR-3CDSENST00000477661ENST00000268261AKR1C1chr10

5018125

+PMM2chr16

8941581

+
3UTR-3CDSENST00000477661ENST00000537352AKR1C1chr10

5018125

+PMM2chr16

8941581

+
3UTR-3CDSENST00000477661ENST00000539622AKR1C1chr10

5018125

+PMM2chr16

8941581

+
3UTR-3CDSENST00000477661ENST00000566983AKR1C1chr10

5018125

+PMM2chr16

8941581

+
3UTR-3CDSENST00000477661ENST00000569958AKR1C1chr10

5018125

+PMM2chr16

8941581

+
3UTR-intronENST00000477661ENST00000565837AKR1C1chr10

5018125

+PMM2chr16

8941581

+
5CDS-intronENST00000380872ENST00000565837AKR1C1chr10

5018125

+PMM2chr16

8941581

+
5CDS-intronENST00000434459ENST00000565837AKR1C1chr10

5018125

+PMM2chr16

8941581

+
Frame-shiftENST00000380872ENST00000268261AKR1C1chr10

5018125

+PMM2chr16

8941581

+
Frame-shiftENST00000434459ENST00000268261AKR1C1chr10

5018125

+PMM2chr16

8941581

+
In-frameENST00000380872ENST00000537352AKR1C1chr10

5018125

+PMM2chr16

8941581

+
In-frameENST00000380872ENST00000539622AKR1C1chr10

5018125

+PMM2chr16

8941581

+
In-frameENST00000380872ENST00000566983AKR1C1chr10

5018125

+PMM2chr16

8941581

+
In-frameENST00000380872ENST00000569958AKR1C1chr10

5018125

+PMM2chr16

8941581

+
In-frameENST00000434459ENST00000537352AKR1C1chr10

5018125

+PMM2chr16

8941581

+
In-frameENST00000434459ENST00000539622AKR1C1chr10

5018125

+PMM2chr16

8941581

+
In-frameENST00000434459ENST00000566983AKR1C1chr10

5018125

+PMM2chr16

8941581

+
In-frameENST00000434459ENST00000569958AKR1C1chr10

5018125

+PMM2chr16

8941581

+
intron-3CDSENST00000380859ENST00000268261AKR1C1chr10

5018125

+PMM2chr16

8941581

+
intron-3CDSENST00000380859ENST00000537352AKR1C1chr10

5018125

+PMM2chr16

8941581

+
intron-3CDSENST00000380859ENST00000539622AKR1C1chr10

5018125

+PMM2chr16

8941581

+
intron-3CDSENST00000380859ENST00000566983AKR1C1chr10

5018125

+PMM2chr16

8941581

+
intron-3CDSENST00000380859ENST00000569958AKR1C1chr10

5018125

+PMM2chr16

8941581

+
intron-intronENST00000380859ENST00000565837AKR1C1chr10

5018125

+PMM2chr16

8941581

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000434459AKR1C1chr105018125+ENST00000566983PMM2chr168941581+191517706971824375
ENST00000434459AKR1C1chr105018125+ENST00000539622PMM2chr168941581+209817706971824375
ENST00000434459AKR1C1chr105018125+ENST00000537352PMM2chr168941581+207717706971824375
ENST00000434459AKR1C1chr105018125+ENST00000569958PMM2chr168941581+208617706971824375
ENST00000380872AKR1C1chr105018125+ENST00000566983PMM2chr168941581+12661121481175375
ENST00000380872AKR1C1chr105018125+ENST00000539622PMM2chr168941581+14491121481175375
ENST00000380872AKR1C1chr105018125+ENST00000537352PMM2chr168941581+14281121481175375
ENST00000380872AKR1C1chr105018125+ENST00000569958PMM2chr168941581+14371121481175375

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
ENST00000434459ENST00000566983AKR1C1chr105018125+PMM2chr168941581+0.0022298170.9977702
ENST00000434459ENST00000539622AKR1C1chr105018125+PMM2chr168941581+0.002393420.9976065
ENST00000434459ENST00000537352AKR1C1chr105018125+PMM2chr168941581+0.0023987220.99760133
ENST00000434459ENST00000569958AKR1C1chr105018125+PMM2chr168941581+0.0024041910.99759585
ENST00000380872ENST00000566983AKR1C1chr105018125+PMM2chr168941581+0.0019271620.99807286
ENST00000380872ENST00000539622AKR1C1chr105018125+PMM2chr168941581+0.0024748020.99752516
ENST00000380872ENST00000537352AKR1C1chr105018125+PMM2chr168941581+0.0024588210.9975412
ENST00000380872ENST00000569958AKR1C1chr105018125+PMM2chr168941581+0.0024297590.9975702

Top

Fusion Genomic Features for AKR1C1-PMM2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
AKR1C1chr105018125+PMM2chr168941580+2.13E-070.99999976
AKR1C1chr105018125+PMM2chr168941580+2.13E-070.99999976

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for AKR1C1-PMM2


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/chr10:5018125/chr16:8941581)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneAKR1C1chr10:5018125chr16:8941581ENST00000380872+89166_167309324.0Nucleotide bindingNADP
HgeneAKR1C1chr10:5018125chr16:8941581ENST00000380872+8920_24309324.0Nucleotide bindingNADP
HgeneAKR1C1chr10:5018125chr16:8941581ENST00000380872+89216_222309324.0Nucleotide bindingNADP
HgeneAKR1C1chr10:5018125chr16:8941581ENST00000380872+89270_280309324.0Nucleotide bindingNADP
HgeneAKR1C1chr10:5018125chr16:8941581ENST00000434459+1314166_167309324.0Nucleotide bindingNADP
HgeneAKR1C1chr10:5018125chr16:8941581ENST00000434459+131420_24309324.0Nucleotide bindingNADP
HgeneAKR1C1chr10:5018125chr16:8941581ENST00000434459+1314216_222309324.0Nucleotide bindingNADP
HgeneAKR1C1chr10:5018125chr16:8941581ENST00000434459+1314270_280309324.0Nucleotide bindingNADP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for AKR1C1-PMM2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>3446_3446_1_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000380872_PMM2_chr16_8941581_ENST00000537352_length(transcript)=1428nt_BP=1121nt
TTTTCTTAGGTAAGAAACGGTTGAACTGGATGCAATTTTTATCACAGCTTGTGTAAGACTGCCTCTGTCCCTCCTCTCACATGCCATTGG
TTAACCAGCAGACAGTGTGCTCAGGGGCGTTGCCAGCTCATTGCTCTTATAGCCTGTGAGGGAGGAAGAAAGAAACATTTGCCAGCCAGG
CTAGTGACAGAAATGGATTCGAAATATCAGTGTGTGAAGCTGAATGATGGTCACTTCATGCCTGTCCTGGGATTTGGCACCTATGCGCCT
GCAGAGGTTCCTAAAAGTAAAGCTTTAGAGGCCACCAAATTGGCAATTGAAGCTGGCTTCCGCCATATTGATTCTGCTCATTTATACAAT
AATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATTCTACACTTCAAAGCTTTGG
TGCAATTCCCATCGACCAGAGTTGGTCCGACCAGCCTTGGAAAGGTCACTGAAAAATCTTCAATTGGATTATGTTGACCTCTACCTTATT
CATTTTCCAGTGTCTGTAAAGCCAGGTGAGGAAGTGATCCCAAAAGATGAAAATGGAAAAATACTATTTGACACAGTGGATCTCTGTGCC
ACATGGGAGGCCGTGGAGAAGTGTAAAGATGCAGGATTGGCCAAGTCCATCGGGGTGTCCAACTTCAACCGCAGGCAGCTGGAGATGATC
CTCAACAAGCCAGGGCTCAAGTACAAGCCTGTCTGCAACCAGGTGGAATGTCATCCTTACTTCAACCAGAGAAAACTGCTGGATTTCTGC
AAGTCAAAAGACATTGTTCTGGTTGCCTATAGTGCTCTGGGATCCCACCGAGAAGAACCATGGGTGGACCCGAACTCCCCGGTGCTCTTG
GAGGACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAACCCCAGCCCTGATTGCCCTGCGCTACCAGCTACAGCGTGGGGTTGTG
GTCCTGGCCAAGAGCTACAATGAGCAGCGCATCAGACAGAACGTGCAGGTGTTTGAATTCCAGTTGACTTCAGAGGAGATGAAAGCCATA
GATGGCCTAAACAGAAATGTGCGATATTTGACCCTTGATATGGTGGCAATGACCATGAGATCTTCACAGACCCCAGAACCATGGGCTACT
CCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTAACGTGGGAGCGGGAGGGGCGGGGTCCCGGCTGACAAGC
CAGCATAGGGCATTCGGTGGCCAGAGCCGAGGGTCCTCCCACACGTGCTCACCCACCCGCAGCCTAGGCAGGCTCTGCATGCTATGCCAG

>3446_3446_1_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000380872_PMM2_chr16_8941581_ENST00000537352_length(amino acids)=375AA_BP=358
MCKTASVPPLTCHWLTSRQCAQGRCQLIALIACEGGRKKHLPARLVTEMDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAI
EAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKD
ENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSH
REEPWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLNRNVRYLTLDMVA

--------------------------------------------------------------
>3446_3446_2_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000380872_PMM2_chr16_8941581_ENST00000539622_length(transcript)=1449nt_BP=1121nt
TTTTCTTAGGTAAGAAACGGTTGAACTGGATGCAATTTTTATCACAGCTTGTGTAAGACTGCCTCTGTCCCTCCTCTCACATGCCATTGG
TTAACCAGCAGACAGTGTGCTCAGGGGCGTTGCCAGCTCATTGCTCTTATAGCCTGTGAGGGAGGAAGAAAGAAACATTTGCCAGCCAGG
CTAGTGACAGAAATGGATTCGAAATATCAGTGTGTGAAGCTGAATGATGGTCACTTCATGCCTGTCCTGGGATTTGGCACCTATGCGCCT
GCAGAGGTTCCTAAAAGTAAAGCTTTAGAGGCCACCAAATTGGCAATTGAAGCTGGCTTCCGCCATATTGATTCTGCTCATTTATACAAT
AATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATTCTACACTTCAAAGCTTTGG
TGCAATTCCCATCGACCAGAGTTGGTCCGACCAGCCTTGGAAAGGTCACTGAAAAATCTTCAATTGGATTATGTTGACCTCTACCTTATT
CATTTTCCAGTGTCTGTAAAGCCAGGTGAGGAAGTGATCCCAAAAGATGAAAATGGAAAAATACTATTTGACACAGTGGATCTCTGTGCC
ACATGGGAGGCCGTGGAGAAGTGTAAAGATGCAGGATTGGCCAAGTCCATCGGGGTGTCCAACTTCAACCGCAGGCAGCTGGAGATGATC
CTCAACAAGCCAGGGCTCAAGTACAAGCCTGTCTGCAACCAGGTGGAATGTCATCCTTACTTCAACCAGAGAAAACTGCTGGATTTCTGC
AAGTCAAAAGACATTGTTCTGGTTGCCTATAGTGCTCTGGGATCCCACCGAGAAGAACCATGGGTGGACCCGAACTCCCCGGTGCTCTTG
GAGGACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAACCCCAGCCCTGATTGCCCTGCGCTACCAGCTACAGCGTGGGGTTGTG
GTCCTGGCCAAGAGCTACAATGAGCAGCGCATCAGACAGAACGTGCAGGTGTTTGAATTCCAGTTGACTTCAGAGGAGATGAAAGCCATA
GATGGCCTAAACAGAAATGTGCGATATTTGACCCTTGATATGGTGGCAATGACCATGAGATCTTCACAGACCCCAGAACCATGGGCTACT
CCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTAACGTGGGAGCGGGAGGGGCGGGGTCCCGGCTGACAAGC
CAGCATAGGGCATTCGGTGGCCAGAGCCGAGGGTCCTCCCACACGTGCTCACCCACCCGCAGCCTAGGCAGGCTCTGCATGCTATGCCAG
GCATGTGCAGTCTGGACTTCCACCTCCAGTGCCAGAAACTTCCAGAAGGAAGGAGAAAACTCTTGTCAAGAATGGCCCAGAGGAATGCCT

>3446_3446_2_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000380872_PMM2_chr16_8941581_ENST00000539622_length(amino acids)=375AA_BP=358
MCKTASVPPLTCHWLTSRQCAQGRCQLIALIACEGGRKKHLPARLVTEMDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAI
EAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKD
ENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSH
REEPWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLNRNVRYLTLDMVA

--------------------------------------------------------------
>3446_3446_3_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000380872_PMM2_chr16_8941581_ENST00000566983_length(transcript)=1266nt_BP=1121nt
TTTTCTTAGGTAAGAAACGGTTGAACTGGATGCAATTTTTATCACAGCTTGTGTAAGACTGCCTCTGTCCCTCCTCTCACATGCCATTGG
TTAACCAGCAGACAGTGTGCTCAGGGGCGTTGCCAGCTCATTGCTCTTATAGCCTGTGAGGGAGGAAGAAAGAAACATTTGCCAGCCAGG
CTAGTGACAGAAATGGATTCGAAATATCAGTGTGTGAAGCTGAATGATGGTCACTTCATGCCTGTCCTGGGATTTGGCACCTATGCGCCT
GCAGAGGTTCCTAAAAGTAAAGCTTTAGAGGCCACCAAATTGGCAATTGAAGCTGGCTTCCGCCATATTGATTCTGCTCATTTATACAAT
AATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATTCTACACTTCAAAGCTTTGG
TGCAATTCCCATCGACCAGAGTTGGTCCGACCAGCCTTGGAAAGGTCACTGAAAAATCTTCAATTGGATTATGTTGACCTCTACCTTATT
CATTTTCCAGTGTCTGTAAAGCCAGGTGAGGAAGTGATCCCAAAAGATGAAAATGGAAAAATACTATTTGACACAGTGGATCTCTGTGCC
ACATGGGAGGCCGTGGAGAAGTGTAAAGATGCAGGATTGGCCAAGTCCATCGGGGTGTCCAACTTCAACCGCAGGCAGCTGGAGATGATC
CTCAACAAGCCAGGGCTCAAGTACAAGCCTGTCTGCAACCAGGTGGAATGTCATCCTTACTTCAACCAGAGAAAACTGCTGGATTTCTGC
AAGTCAAAAGACATTGTTCTGGTTGCCTATAGTGCTCTGGGATCCCACCGAGAAGAACCATGGGTGGACCCGAACTCCCCGGTGCTCTTG
GAGGACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAACCCCAGCCCTGATTGCCCTGCGCTACCAGCTACAGCGTGGGGTTGTG
GTCCTGGCCAAGAGCTACAATGAGCAGCGCATCAGACAGAACGTGCAGGTGTTTGAATTCCAGTTGACTTCAGAGGAGATGAAAGCCATA
GATGGCCTAAACAGAAATGTGCGATATTTGACCCTTGATATGGTGGCAATGACCATGAGATCTTCACAGACCCCAGAACCATGGGCTACT
CCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTAACGTGGGAGCGGGAGGGGCGGGGTCCCGGCTGACAAGC

>3446_3446_3_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000380872_PMM2_chr16_8941581_ENST00000566983_length(amino acids)=375AA_BP=358
MCKTASVPPLTCHWLTSRQCAQGRCQLIALIACEGGRKKHLPARLVTEMDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAI
EAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKD
ENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSH
REEPWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLNRNVRYLTLDMVA

--------------------------------------------------------------
>3446_3446_4_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000380872_PMM2_chr16_8941581_ENST00000569958_length(transcript)=1437nt_BP=1121nt
TTTTCTTAGGTAAGAAACGGTTGAACTGGATGCAATTTTTATCACAGCTTGTGTAAGACTGCCTCTGTCCCTCCTCTCACATGCCATTGG
TTAACCAGCAGACAGTGTGCTCAGGGGCGTTGCCAGCTCATTGCTCTTATAGCCTGTGAGGGAGGAAGAAAGAAACATTTGCCAGCCAGG
CTAGTGACAGAAATGGATTCGAAATATCAGTGTGTGAAGCTGAATGATGGTCACTTCATGCCTGTCCTGGGATTTGGCACCTATGCGCCT
GCAGAGGTTCCTAAAAGTAAAGCTTTAGAGGCCACCAAATTGGCAATTGAAGCTGGCTTCCGCCATATTGATTCTGCTCATTTATACAAT
AATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATTCTACACTTCAAAGCTTTGG
TGCAATTCCCATCGACCAGAGTTGGTCCGACCAGCCTTGGAAAGGTCACTGAAAAATCTTCAATTGGATTATGTTGACCTCTACCTTATT
CATTTTCCAGTGTCTGTAAAGCCAGGTGAGGAAGTGATCCCAAAAGATGAAAATGGAAAAATACTATTTGACACAGTGGATCTCTGTGCC
ACATGGGAGGCCGTGGAGAAGTGTAAAGATGCAGGATTGGCCAAGTCCATCGGGGTGTCCAACTTCAACCGCAGGCAGCTGGAGATGATC
CTCAACAAGCCAGGGCTCAAGTACAAGCCTGTCTGCAACCAGGTGGAATGTCATCCTTACTTCAACCAGAGAAAACTGCTGGATTTCTGC
AAGTCAAAAGACATTGTTCTGGTTGCCTATAGTGCTCTGGGATCCCACCGAGAAGAACCATGGGTGGACCCGAACTCCCCGGTGCTCTTG
GAGGACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAACCCCAGCCCTGATTGCCCTGCGCTACCAGCTACAGCGTGGGGTTGTG
GTCCTGGCCAAGAGCTACAATGAGCAGCGCATCAGACAGAACGTGCAGGTGTTTGAATTCCAGTTGACTTCAGAGGAGATGAAAGCCATA
GATGGCCTAAACAGAAATGTGCGATATTTGACCCTTGATATGGTGGCAATGACCATGAGATCTTCACAGACCCCAGAACCATGGGCTACT
CCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTAACGTGGGAGCGGGAGGGGCGGGGTCCCGGCTGACAAGC
CAGCATAGGGCATTCGGTGGCCAGAGCCGAGGGTCCTCCCACACGTGCTCACCCACCCGCAGCCTAGGCAGGCTCTGCATGCTATGCCAG

>3446_3446_4_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000380872_PMM2_chr16_8941581_ENST00000569958_length(amino acids)=375AA_BP=358
MCKTASVPPLTCHWLTSRQCAQGRCQLIALIACEGGRKKHLPARLVTEMDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAI
EAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKD
ENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSH
REEPWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLNRNVRYLTLDMVA

--------------------------------------------------------------
>3446_3446_5_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000434459_PMM2_chr16_8941581_ENST00000537352_length(transcript)=2077nt_BP=1770nt
AGAAAGCCATGTAACCATGAAGGCAGAGATTGAAGTGATTCAACTATAAGCCAAGGCATGCCAACTGCTACTGGGAGCCACCAAAAGCTA
GTCAAAGGCAAGGGAACCATCTTCCCGAGAGCTTTCATGGGGAGCATGGCCCTATAAACAACTGGATTTTTGACTCAAGTCTCCAGAACT
GGAAGAGAATACAATCCTCTTTTGTTGTTCTAAACCATCCAATTTGCACAAAAACGTGTTTTGAACCTACTCTAACCAACTGTCAAAAGG
CTGTGTTAAGTGATTCTCTGACAAGAACCGGGATTTAGCTGAACTAAGAAGCAAAAATTCTGCATCATTTTGGTGGCGTGTACAGGGACA
TGAGGAAGGAACCTTGGCCATTCTGATGTTTAACCAAGAGTTGAGCTGAGTGGCTCTGACCAGCGTGGAAGATGAGAGCAGCCTGAACTT
ACACTGTGAAAATGCCCTGGAGAAATGCAGAGATGCAGGTTTAATGAAGTCCATCAGGGTGTCCAGTTTCAATCACTAACTGTTGGAACT
GATCCTCAGACAAGCCAGGACTCAAGTACAAGCCCATCTACAACCAGATGAGCCCTTAGGGCCACTGGGGCCATTTCTGACTTTGTGCTC
TTCACACACTTCCTTACATTAGAATAATGTAAGAAACGGTTGAACTGGATGCAATTTTTATCACAGCTTGTGTAAGACTGCCTCTGTCCC
TCCTCTCACATGCCATTGGTTAACCAGCAGACAGTGTGCTCAGGGGCGTTGCCAGCTCATTGCTCTTATAGCCTGTGAGGGAGGAAGAAA
GAAACATTTGCCAGCCAGGCTAGTGACAGAAATGGATTCGAAATATCAGTGTGTGAAGCTGAATGATGGTCACTTCATGCCTGTCCTGGG
ATTTGGCACCTATGCGCCTGCAGAGGTTCCTAAAAGTAAAGCTTTAGAGGCCACCAAATTGGCAATTGAAGCTGGCTTCCGCCATATTGA
TTCTGCTCATTTATACAATAATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATT
CTACACTTCAAAGCTTTGGTGCAATTCCCATCGACCAGAGTTGGTCCGACCAGCCTTGGAAAGGTCACTGAAAAATCTTCAATTGGATTA
TGTTGACCTCTACCTTATTCATTTTCCAGTGTCTGTAAAGCCAGGTGAGGAAGTGATCCCAAAAGATGAAAATGGAAAAATACTATTTGA
CACAGTGGATCTCTGTGCCACATGGGAGGCCGTGGAGAAGTGTAAAGATGCAGGATTGGCCAAGTCCATCGGGGTGTCCAACTTCAACCG
CAGGCAGCTGGAGATGATCCTCAACAAGCCAGGGCTCAAGTACAAGCCTGTCTGCAACCAGGTGGAATGTCATCCTTACTTCAACCAGAG
AAAACTGCTGGATTTCTGCAAGTCAAAAGACATTGTTCTGGTTGCCTATAGTGCTCTGGGATCCCACCGAGAAGAACCATGGGTGGACCC
GAACTCCCCGGTGCTCTTGGAGGACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAACCCCAGCCCTGATTGCCCTGCGCTACCA
GCTACAGCGTGGGGTTGTGGTCCTGGCCAAGAGCTACAATGAGCAGCGCATCAGACAGAACGTGCAGGTGTTTGAATTCCAGTTGACTTC
AGAGGAGATGAAAGCCATAGATGGCCTAAACAGAAATGTGCGATATTTGACCCTTGATATGGTGGCAATGACCATGAGATCTTCACAGAC
CCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTAACGTGGGAGCGGGAGGGGC
GGGGTCCCGGCTGACAAGCCAGCATAGGGCATTCGGTGGCCAGAGCCGAGGGTCCTCCCACACGTGCTCACCCACCCGCAGCCTAGGCAG
GCTCTGCATGCTATGCCAGGCATGTGCAGTCTGGACTTCCACCTCCAGTGCCAGAAACTTCCAGAAGGAAGGAGAAAACTCTTGTCAAGA

>3446_3446_5_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000434459_PMM2_chr16_8941581_ENST00000537352_length(amino acids)=375AA_BP=358
MCKTASVPPLTCHWLTSRQCAQGRCQLIALIACEGGRKKHLPARLVTEMDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAI
EAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKD
ENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSH
REEPWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLNRNVRYLTLDMVA

--------------------------------------------------------------
>3446_3446_6_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000434459_PMM2_chr16_8941581_ENST00000539622_length(transcript)=2098nt_BP=1770nt
AGAAAGCCATGTAACCATGAAGGCAGAGATTGAAGTGATTCAACTATAAGCCAAGGCATGCCAACTGCTACTGGGAGCCACCAAAAGCTA
GTCAAAGGCAAGGGAACCATCTTCCCGAGAGCTTTCATGGGGAGCATGGCCCTATAAACAACTGGATTTTTGACTCAAGTCTCCAGAACT
GGAAGAGAATACAATCCTCTTTTGTTGTTCTAAACCATCCAATTTGCACAAAAACGTGTTTTGAACCTACTCTAACCAACTGTCAAAAGG
CTGTGTTAAGTGATTCTCTGACAAGAACCGGGATTTAGCTGAACTAAGAAGCAAAAATTCTGCATCATTTTGGTGGCGTGTACAGGGACA
TGAGGAAGGAACCTTGGCCATTCTGATGTTTAACCAAGAGTTGAGCTGAGTGGCTCTGACCAGCGTGGAAGATGAGAGCAGCCTGAACTT
ACACTGTGAAAATGCCCTGGAGAAATGCAGAGATGCAGGTTTAATGAAGTCCATCAGGGTGTCCAGTTTCAATCACTAACTGTTGGAACT
GATCCTCAGACAAGCCAGGACTCAAGTACAAGCCCATCTACAACCAGATGAGCCCTTAGGGCCACTGGGGCCATTTCTGACTTTGTGCTC
TTCACACACTTCCTTACATTAGAATAATGTAAGAAACGGTTGAACTGGATGCAATTTTTATCACAGCTTGTGTAAGACTGCCTCTGTCCC
TCCTCTCACATGCCATTGGTTAACCAGCAGACAGTGTGCTCAGGGGCGTTGCCAGCTCATTGCTCTTATAGCCTGTGAGGGAGGAAGAAA
GAAACATTTGCCAGCCAGGCTAGTGACAGAAATGGATTCGAAATATCAGTGTGTGAAGCTGAATGATGGTCACTTCATGCCTGTCCTGGG
ATTTGGCACCTATGCGCCTGCAGAGGTTCCTAAAAGTAAAGCTTTAGAGGCCACCAAATTGGCAATTGAAGCTGGCTTCCGCCATATTGA
TTCTGCTCATTTATACAATAATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATT
CTACACTTCAAAGCTTTGGTGCAATTCCCATCGACCAGAGTTGGTCCGACCAGCCTTGGAAAGGTCACTGAAAAATCTTCAATTGGATTA
TGTTGACCTCTACCTTATTCATTTTCCAGTGTCTGTAAAGCCAGGTGAGGAAGTGATCCCAAAAGATGAAAATGGAAAAATACTATTTGA
CACAGTGGATCTCTGTGCCACATGGGAGGCCGTGGAGAAGTGTAAAGATGCAGGATTGGCCAAGTCCATCGGGGTGTCCAACTTCAACCG
CAGGCAGCTGGAGATGATCCTCAACAAGCCAGGGCTCAAGTACAAGCCTGTCTGCAACCAGGTGGAATGTCATCCTTACTTCAACCAGAG
AAAACTGCTGGATTTCTGCAAGTCAAAAGACATTGTTCTGGTTGCCTATAGTGCTCTGGGATCCCACCGAGAAGAACCATGGGTGGACCC
GAACTCCCCGGTGCTCTTGGAGGACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAACCCCAGCCCTGATTGCCCTGCGCTACCA
GCTACAGCGTGGGGTTGTGGTCCTGGCCAAGAGCTACAATGAGCAGCGCATCAGACAGAACGTGCAGGTGTTTGAATTCCAGTTGACTTC
AGAGGAGATGAAAGCCATAGATGGCCTAAACAGAAATGTGCGATATTTGACCCTTGATATGGTGGCAATGACCATGAGATCTTCACAGAC
CCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTAACGTGGGAGCGGGAGGGGC
GGGGTCCCGGCTGACAAGCCAGCATAGGGCATTCGGTGGCCAGAGCCGAGGGTCCTCCCACACGTGCTCACCCACCCGCAGCCTAGGCAG
GCTCTGCATGCTATGCCAGGCATGTGCAGTCTGGACTTCCACCTCCAGTGCCAGAAACTTCCAGAAGGAAGGAGAAAACTCTTGTCAAGA

>3446_3446_6_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000434459_PMM2_chr16_8941581_ENST00000539622_length(amino acids)=375AA_BP=358
MCKTASVPPLTCHWLTSRQCAQGRCQLIALIACEGGRKKHLPARLVTEMDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAI
EAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKD
ENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSH
REEPWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLNRNVRYLTLDMVA

--------------------------------------------------------------
>3446_3446_7_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000434459_PMM2_chr16_8941581_ENST00000566983_length(transcript)=1915nt_BP=1770nt
AGAAAGCCATGTAACCATGAAGGCAGAGATTGAAGTGATTCAACTATAAGCCAAGGCATGCCAACTGCTACTGGGAGCCACCAAAAGCTA
GTCAAAGGCAAGGGAACCATCTTCCCGAGAGCTTTCATGGGGAGCATGGCCCTATAAACAACTGGATTTTTGACTCAAGTCTCCAGAACT
GGAAGAGAATACAATCCTCTTTTGTTGTTCTAAACCATCCAATTTGCACAAAAACGTGTTTTGAACCTACTCTAACCAACTGTCAAAAGG
CTGTGTTAAGTGATTCTCTGACAAGAACCGGGATTTAGCTGAACTAAGAAGCAAAAATTCTGCATCATTTTGGTGGCGTGTACAGGGACA
TGAGGAAGGAACCTTGGCCATTCTGATGTTTAACCAAGAGTTGAGCTGAGTGGCTCTGACCAGCGTGGAAGATGAGAGCAGCCTGAACTT
ACACTGTGAAAATGCCCTGGAGAAATGCAGAGATGCAGGTTTAATGAAGTCCATCAGGGTGTCCAGTTTCAATCACTAACTGTTGGAACT
GATCCTCAGACAAGCCAGGACTCAAGTACAAGCCCATCTACAACCAGATGAGCCCTTAGGGCCACTGGGGCCATTTCTGACTTTGTGCTC
TTCACACACTTCCTTACATTAGAATAATGTAAGAAACGGTTGAACTGGATGCAATTTTTATCACAGCTTGTGTAAGACTGCCTCTGTCCC
TCCTCTCACATGCCATTGGTTAACCAGCAGACAGTGTGCTCAGGGGCGTTGCCAGCTCATTGCTCTTATAGCCTGTGAGGGAGGAAGAAA
GAAACATTTGCCAGCCAGGCTAGTGACAGAAATGGATTCGAAATATCAGTGTGTGAAGCTGAATGATGGTCACTTCATGCCTGTCCTGGG
ATTTGGCACCTATGCGCCTGCAGAGGTTCCTAAAAGTAAAGCTTTAGAGGCCACCAAATTGGCAATTGAAGCTGGCTTCCGCCATATTGA
TTCTGCTCATTTATACAATAATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATT
CTACACTTCAAAGCTTTGGTGCAATTCCCATCGACCAGAGTTGGTCCGACCAGCCTTGGAAAGGTCACTGAAAAATCTTCAATTGGATTA
TGTTGACCTCTACCTTATTCATTTTCCAGTGTCTGTAAAGCCAGGTGAGGAAGTGATCCCAAAAGATGAAAATGGAAAAATACTATTTGA
CACAGTGGATCTCTGTGCCACATGGGAGGCCGTGGAGAAGTGTAAAGATGCAGGATTGGCCAAGTCCATCGGGGTGTCCAACTTCAACCG
CAGGCAGCTGGAGATGATCCTCAACAAGCCAGGGCTCAAGTACAAGCCTGTCTGCAACCAGGTGGAATGTCATCCTTACTTCAACCAGAG
AAAACTGCTGGATTTCTGCAAGTCAAAAGACATTGTTCTGGTTGCCTATAGTGCTCTGGGATCCCACCGAGAAGAACCATGGGTGGACCC
GAACTCCCCGGTGCTCTTGGAGGACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAACCCCAGCCCTGATTGCCCTGCGCTACCA
GCTACAGCGTGGGGTTGTGGTCCTGGCCAAGAGCTACAATGAGCAGCGCATCAGACAGAACGTGCAGGTGTTTGAATTCCAGTTGACTTC
AGAGGAGATGAAAGCCATAGATGGCCTAAACAGAAATGTGCGATATTTGACCCTTGATATGGTGGCAATGACCATGAGATCTTCACAGAC
CCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTAACGTGGGAGCGGGAGGGGC

>3446_3446_7_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000434459_PMM2_chr16_8941581_ENST00000566983_length(amino acids)=375AA_BP=358
MCKTASVPPLTCHWLTSRQCAQGRCQLIALIACEGGRKKHLPARLVTEMDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAI
EAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKD
ENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSH
REEPWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLNRNVRYLTLDMVA

--------------------------------------------------------------
>3446_3446_8_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000434459_PMM2_chr16_8941581_ENST00000569958_length(transcript)=2086nt_BP=1770nt
AGAAAGCCATGTAACCATGAAGGCAGAGATTGAAGTGATTCAACTATAAGCCAAGGCATGCCAACTGCTACTGGGAGCCACCAAAAGCTA
GTCAAAGGCAAGGGAACCATCTTCCCGAGAGCTTTCATGGGGAGCATGGCCCTATAAACAACTGGATTTTTGACTCAAGTCTCCAGAACT
GGAAGAGAATACAATCCTCTTTTGTTGTTCTAAACCATCCAATTTGCACAAAAACGTGTTTTGAACCTACTCTAACCAACTGTCAAAAGG
CTGTGTTAAGTGATTCTCTGACAAGAACCGGGATTTAGCTGAACTAAGAAGCAAAAATTCTGCATCATTTTGGTGGCGTGTACAGGGACA
TGAGGAAGGAACCTTGGCCATTCTGATGTTTAACCAAGAGTTGAGCTGAGTGGCTCTGACCAGCGTGGAAGATGAGAGCAGCCTGAACTT
ACACTGTGAAAATGCCCTGGAGAAATGCAGAGATGCAGGTTTAATGAAGTCCATCAGGGTGTCCAGTTTCAATCACTAACTGTTGGAACT
GATCCTCAGACAAGCCAGGACTCAAGTACAAGCCCATCTACAACCAGATGAGCCCTTAGGGCCACTGGGGCCATTTCTGACTTTGTGCTC
TTCACACACTTCCTTACATTAGAATAATGTAAGAAACGGTTGAACTGGATGCAATTTTTATCACAGCTTGTGTAAGACTGCCTCTGTCCC
TCCTCTCACATGCCATTGGTTAACCAGCAGACAGTGTGCTCAGGGGCGTTGCCAGCTCATTGCTCTTATAGCCTGTGAGGGAGGAAGAAA
GAAACATTTGCCAGCCAGGCTAGTGACAGAAATGGATTCGAAATATCAGTGTGTGAAGCTGAATGATGGTCACTTCATGCCTGTCCTGGG
ATTTGGCACCTATGCGCCTGCAGAGGTTCCTAAAAGTAAAGCTTTAGAGGCCACCAAATTGGCAATTGAAGCTGGCTTCCGCCATATTGA
TTCTGCTCATTTATACAATAATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATT
CTACACTTCAAAGCTTTGGTGCAATTCCCATCGACCAGAGTTGGTCCGACCAGCCTTGGAAAGGTCACTGAAAAATCTTCAATTGGATTA
TGTTGACCTCTACCTTATTCATTTTCCAGTGTCTGTAAAGCCAGGTGAGGAAGTGATCCCAAAAGATGAAAATGGAAAAATACTATTTGA
CACAGTGGATCTCTGTGCCACATGGGAGGCCGTGGAGAAGTGTAAAGATGCAGGATTGGCCAAGTCCATCGGGGTGTCCAACTTCAACCG
CAGGCAGCTGGAGATGATCCTCAACAAGCCAGGGCTCAAGTACAAGCCTGTCTGCAACCAGGTGGAATGTCATCCTTACTTCAACCAGAG
AAAACTGCTGGATTTCTGCAAGTCAAAAGACATTGTTCTGGTTGCCTATAGTGCTCTGGGATCCCACCGAGAAGAACCATGGGTGGACCC
GAACTCCCCGGTGCTCTTGGAGGACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAACCCCAGCCCTGATTGCCCTGCGCTACCA
GCTACAGCGTGGGGTTGTGGTCCTGGCCAAGAGCTACAATGAGCAGCGCATCAGACAGAACGTGCAGGTGTTTGAATTCCAGTTGACTTC
AGAGGAGATGAAAGCCATAGATGGCCTAAACAGAAATGTGCGATATTTGACCCTTGATATGGTGGCAATGACCATGAGATCTTCACAGAC
CCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTAACGTGGGAGCGGGAGGGGC
GGGGTCCCGGCTGACAAGCCAGCATAGGGCATTCGGTGGCCAGAGCCGAGGGTCCTCCCACACGTGCTCACCCACCCGCAGCCTAGGCAG
GCTCTGCATGCTATGCCAGGCATGTGCAGTCTGGACTTCCACCTCCAGTGCCAGAAACTTCCAGAAGGAAGGAGAAAACTCTTGTCAAGA

>3446_3446_8_AKR1C1-PMM2_AKR1C1_chr10_5018125_ENST00000434459_PMM2_chr16_8941581_ENST00000569958_length(amino acids)=375AA_BP=358
MCKTASVPPLTCHWLTSRQCAQGRCQLIALIACEGGRKKHLPARLVTEMDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAI
EAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKD
ENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSH
REEPWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLNRNVRYLTLDMVA

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

Top

Fusion Gene PPI Analysis for AKR1C1-PMM2


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


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


Top

Related Drugs for AKR1C1-PMM2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for AKR1C1-PMM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKR1C1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneAKR1C1C0007621Neoplastic Cell Transformation1CTD_human
HgeneAKR1C1C0014170Endometrial Neoplasms1CTD_human
HgeneAKR1C1C0014175Endometriosis1CTD_human
HgeneAKR1C1C0019269Hermaphroditism1CTD_human
HgeneAKR1C1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAKR1C1C0027661Neoplasms, Hormone-Dependent1CTD_human
HgeneAKR1C1C0029408Degenerative polyarthritis1CTD_human
HgeneAKR1C1C0032460Polycystic Ovary Syndrome1CTD_human
HgeneAKR1C1C0033804Pseudohermaphroditism1CTD_human
HgeneAKR1C1C0036875Disorders of Sex Development1CTD_human
HgeneAKR1C1C0086743Osteoarthrosis Deformans1CTD_human
HgeneAKR1C1C0266362Ambiguous Genitalia1CTD_human
HgeneAKR1C1C0269102Endometrioma1CTD_human
HgeneAKR1C1C0476089Endometrial Carcinoma1CTD_human
HgeneAKR1C1C1136382Sclerocystic Ovaries1CTD_human
HgeneAKR1C1C2930618Intersex Conditions1CTD_human
HgeneAKR1C1C2930619Sex Differentiation Disorders1CTD_human
TgeneC0349653Congenital disorder of glycosylation type 1A23CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0022680Polycystic Kidney Diseases1GENOMICS_ENGLAND
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0455988Hydrops Fetalis, Non-Immune1GENOMICS_ENGLAND
TgeneC0917816Mental deficiency1CTD_human
TgeneC3714756Intellectual Disability1CTD_human
TgeneC4317224Congenital disorder of glycosylation type 1q1GENOMICS_ENGLAND