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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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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 16758

FusionGeneSummary for HPS4_UBE2L3

check button Fusion gene summary
Fusion gene informationFusion gene name: HPS4_UBE2L3
Fusion gene ID: 16758
HgeneTgene
Gene symbol

HPS4

UBE2L3

Gene ID

89781

7332

Gene nameHPS4, biogenesis of lysosomal organelles complex 3 subunit 2ubiquitin conjugating enzyme E2 L3
SynonymsBLOC3S2|LEE2-F1|L-UBC|UBCH7|UbcM4
Cytomap

22q12.1

22q11.21

Type of geneprotein-codingprotein-coding
DescriptionHermansky-Pudlak syndrome 4 proteinlight-ear protein homologubiquitin-conjugating enzyme E2 L3E2 ubiquitin-conjugating enzyme L3ubiquitin carrier protein L3ubiquitin conjugating enzyme E2L 3ubiquitin-conjugating enzyme E2-F1ubiquitin-conjugating enzyme UBCH7ubiquitin-protein ligase L3
Modification date2018051920180523
UniProtAcc

Q9NQG7

P68036

Ensembl transtripts involved in fusion geneENST00000398141, ENST00000398145, 
ENST00000402105, ENST00000336873, 
ENST00000493455, 
ENST00000458578, 
ENST00000342192, ENST00000545681, 
Fusion gene scores* DoF score3 X 3 X 3=278 X 4 X 4=128
# samples 39
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/128*10)=-0.508146903670325
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HPS4 [Title/Abstract] AND UBE2L3 [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
HgeneHPS4

GO:0006605

protein targeting

12663659

HgeneHPS4

GO:0007040

lysosome organization

12663659

HgeneHPS4

GO:1903232

melanosome assembly

23084991

TgeneUBE2L3

GO:0000209

protein polyubiquitination

10888878|14765125

TgeneUBE2L3

GO:0006355

regulation of transcription, DNA-templated

17003263

TgeneUBE2L3

GO:0016567

protein ubiquitination

9990509|21532592

TgeneUBE2L3

GO:0070979

protein K11-linked ubiquitination

20061386

TgeneUBE2L3

GO:0071385

cellular response to glucocorticoid stimulus

17003263


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
TCGARVSKCMTCGA-XV-A9W2-01AHPS4chr22

26859883

-UBE2L3chr22

21947150

+
* 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-frameENST00000398141ENST00000458578HPS4chr22

26859883

-UBE2L3chr22

21947150

+
In-frameENST00000398141ENST00000342192HPS4chr22

26859883

-UBE2L3chr22

21947150

+
5CDS-intronENST00000398141ENST00000545681HPS4chr22

26859883

-UBE2L3chr22

21947150

+
Frame-shiftENST00000398145ENST00000458578HPS4chr22

26859883

-UBE2L3chr22

21947150

+
Frame-shiftENST00000398145ENST00000342192HPS4chr22

26859883

-UBE2L3chr22

21947150

+
5CDS-intronENST00000398145ENST00000545681HPS4chr22

26859883

-UBE2L3chr22

21947150

+
In-frameENST00000402105ENST00000458578HPS4chr22

26859883

-UBE2L3chr22

21947150

+
In-frameENST00000402105ENST00000342192HPS4chr22

26859883

-UBE2L3chr22

21947150

+
5CDS-intronENST00000402105ENST00000545681HPS4chr22

26859883

-UBE2L3chr22

21947150

+
In-frameENST00000336873ENST00000458578HPS4chr22

26859883

-UBE2L3chr22

21947150

+
In-frameENST00000336873ENST00000342192HPS4chr22

26859883

-UBE2L3chr22

21947150

+
5CDS-intronENST00000336873ENST00000545681HPS4chr22

26859883

-UBE2L3chr22

21947150

+
5UTR-3CDSENST00000493455ENST00000458578HPS4chr22

26859883

-UBE2L3chr22

21947150

+
5UTR-3CDSENST00000493455ENST00000342192HPS4chr22

26859883

-UBE2L3chr22

21947150

+
5UTR-intronENST00000493455ENST00000545681HPS4chr22

26859883

-UBE2L3chr22

21947150

+

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FusionProtFeatures for HPS4_UBE2L3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HPS4

Q9NQG7

UBE2L3

P68036

Component of the BLOC-3 complex, a complex that acts asa guanine exchange factor (GEF) for RAB32 and RAB38, promotes theexchange of GDP to GTP, converting them from an inactive GDP-boundform into an active GTP-bound form. The BLOC-3 complex plays animportant role in the control of melanin production and melanosomebiogenesis and promotes the membrane localization of RAB32 andRAB38 (PubMed:23084991). {ECO:0000269|PubMed:23084991}. Ubiquitin-conjugating enzyme E2 that specifically actswith HECT-type and RBR family E3 ubiquitin-protein ligases. Doesnot function with most RING-containing E3 ubiquitin-proteinligases because it lacks intrinsic E3-independent reactivity withlysine: in contrast, it has activity with the RBR family E3enzymes, such as PRKN and ARIH1, that function like function likeRING-HECT hybrids. Accepts ubiquitin from the E1 complex andcatalyzes its covalent attachment to other proteins. In vitrocatalyzes 'Lys-11'-linked polyubiquitination. Involved in theselective degradation of short-lived and abnormal proteins. Down-regulated during the S-phase it is involved in progression throughthe cell cycle. Regulates nuclear hormone receptorstranscriptional activity. May play a role in myelopoiesis.{ECO:0000269|PubMed:10888878, ECO:0000269|PubMed:15367689,ECO:0000269|PubMed:17003263, ECO:0000269|PubMed:18946090,ECO:0000269|PubMed:19340006, ECO:0000269|PubMed:20061386,ECO:0000269|PubMed:21532592}.

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


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FusionGeneSequence for HPS4_UBE2L3


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_HPS4_ENST00000398141_chr22_26859883_-_UBE2L3_ENST00000458578_chr22_21947150_+_730aa
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLG
CAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQR
SPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWMLWSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAIS
LHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARG
EVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQH
GAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISS
RLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEI
NFPAEYPFKPPKITFKTKIYHPNIDEKGQVCLPVISAENWKPATKTDQVIQSLIALVNDPQPEHPLRADLAEEYSKDRKKFCKNAEEFTK

>In-frame_HPS4_ENST00000398141_chr22_26859883_-_UBE2L3_ENST00000342192_chr22_21947150_+_730aa
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLG
CAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQR
SPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWMLWSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAIS
LHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARG
EVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQH
GAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISS
RLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEI
NFPAEYPFKPPKITFKTKIYHPNIDEKGQVCLPVISAENWKPATKTDQVIQSLIALVNDPQPEHPLRADLAEEYSKDRKKFCKNAEEFTK

>In-frame_HPS4_ENST00000402105_chr22_26859883_-_UBE2L3_ENST00000458578_chr22_21947150_+_712aa
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLG
CAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQR
SPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAG
LQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQE
ELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPI
PRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYT
HCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEINFPAEYPFKPPKITFKTK

>In-frame_HPS4_ENST00000402105_chr22_26859883_-_UBE2L3_ENST00000342192_chr22_21947150_+_712aa
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLG
CAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQR
SPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAG
LQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQE
ELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPI
PRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYT
HCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEINFPAEYPFKPPKITFKTK

>In-frame_HPS4_ENST00000336873_chr22_26859883_-_UBE2L3_ENST00000458578_chr22_21947150_+_717aa
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDY
LWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL
QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSL
ASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKEL
VFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHS
SQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVR
MNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEINFPAEYPFKPPKI

>In-frame_HPS4_ENST00000336873_chr22_26859883_-_UBE2L3_ENST00000342192_chr22_21947150_+_717aa
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDY
LWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL
QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSL
ASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKEL
VFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHS
SQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVR
MNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEINFPAEYPFKPPKI


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_HPS4_ENST00000398141_chr22_26859883_-_UBE2L3_ENST00000458578_chr22_21947150_+_2190nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT
GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC
TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA
GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG
ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC
TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT
CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAAAATGGATGTTATGGAGCTTCAAGAAT
CGAGTTACCCACCAGAACCCTAATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGT
CTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGT
GGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCT
TGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGT
GAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCT
CAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGC
GCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCAT
GGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGG
CCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTC
TGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCC
AGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCT
GAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATC
CAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATC
AACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTC
TGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCC
CAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAG

>In-frame_HPS4_ENST00000398141_chr22_26859883_-_UBE2L3_ENST00000342192_chr22_21947150_+_2190nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT
GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC
TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA
GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG
ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC
TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT
CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAAAATGGATGTTATGGAGCTTCAAGAAT
CGAGTTACCCACCAGAACCCTAATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGT
CTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGT
GGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCT
TGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGT
GAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCT
CAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGC
GCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCAT
GGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGG
CCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTC
TGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCC
AGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCT
GAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATC
CAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATC
AACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTC
TGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCC
CAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAG

>In-frame_HPS4_ENST00000402105_chr22_26859883_-_UBE2L3_ENST00000458578_chr22_21947150_+_2136nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT
GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC
TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA
GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG
ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC
TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT
CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAGCGGCATTGCCCCCGAATGTCCAGATT
ATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGA
CTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCC
TGGACCACCCCAGATCCCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGC
ATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAA
GAACTCGACTTGTCTGAAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCA
GATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTG
CGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATT
CCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACG
GGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGT
CAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACT
CACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAA
ATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAAC
CCTCCATATGATAAGGGAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAG
ATCTATCACCCAAACATCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAA
GTAATCCAGTCCCTCATAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGT

>In-frame_HPS4_ENST00000402105_chr22_26859883_-_UBE2L3_ENST00000342192_chr22_21947150_+_2136nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT
GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC
TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA
GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG
ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC
TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT
CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAGCGGCATTGCCCCCGAATGTCCAGATT
ATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGA
CTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCC
TGGACCACCCCAGATCCCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGC
ATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAA
GAACTCGACTTGTCTGAAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCA
GATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTG
CGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATT
CCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACG
GGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGT
CAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACT
CACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAA
ATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAAC
CCTCCATATGATAAGGGAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAG
ATCTATCACCCAAACATCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAA
GTAATCCAGTCCCTCATAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGT

>In-frame_HPS4_ENST00000336873_chr22_26859883_-_UBE2L3_ENST00000458578_chr22_21947150_+_2151nt
ATGGCCACCTCTACCTCCACAGAGGCAAAGTCAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGC
GATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTT
GTCCGCTGTGTTTCTGACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTAC
CTTTGGGTGCTGGGCTGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAAT
GGACCTGTTTCCCTAGCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACC
AGTGATCTGCATAAGATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTG
CAGACCTGCCAGCGCTCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACC
GCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAGCGGCATTGCCC
CCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTA
GCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCAT
GTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGC
CATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTA
GTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTA
CATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACA
GCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGC
AGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGA
AACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCA
GGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGG
ATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAA
GTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTT
ATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATC
ACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCA
ACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAA

>In-frame_HPS4_ENST00000336873_chr22_26859883_-_UBE2L3_ENST00000342192_chr22_21947150_+_2151nt
ATGGCCACCTCTACCTCCACAGAGGCAAAGTCAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGC
GATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTT
GTCCGCTGTGTTTCTGACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTAC
CTTTGGGTGCTGGGCTGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAAT
GGACCTGTTTCCCTAGCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACC
AGTGATCTGCATAAGATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTG
CAGACCTGCCAGCGCTCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACC
GCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAGCGGCATTGCCC
CCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTA
GCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCAT
GTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGC
CATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTA
GTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTA
CATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACA
GCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGC
AGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGA
AACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCA
GGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGG
ATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAA
GTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTT
ATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATC
ACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCA
ACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_HPS4_ENST00000398141_chr22_26859883_-_UBE2L3_ENST00000458578_chr22_21947150_+_2773nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT
GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC
TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA
GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG
ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC
TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT
CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAAAATGGATGTTATGGAGCTTCAAGAAT
CGAGTTACCCACCAGAACCCTAATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGT
CTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGT
GGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCT
TGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGT
GAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCT
CAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGC
GCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCAT
GGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGG
CCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTC
TGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCC
AGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCT
GAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATC
CAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATC
AACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTC
TGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCC
CAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAG
AAATATGGGGAAAAGCGACCTGTGGACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACCCCGTGCAGTGCATTCAGACA
CCCCGCAAAGCAGGACTCTGTGGAAATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAACTTTCTACAGTTTTCTTAAT
CAAAAGTGGTCTAGGTAACCTGTAAAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGTTTTAAAAATCACTGCTTCAA
TCTACTTCAAAAGAATGGTGTTTCTTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCCATAAGGTTTAAAAAAAAGGA
AAAAAAACGGTTGTGGTTCCCTTTCTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTTTCACTTACTTACTTCCCCAG
ACCCCGGGCTCGCCTCCACAAAGGAGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGTGGCACTGTTGCCCAGTGTGG

>In-frame_HPS4_ENST00000398141_chr22_26859883_-_UBE2L3_ENST00000342192_chr22_21947150_+_4555nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT
GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC
TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA
GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG
ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC
TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT
CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAAAATGGATGTTATGGAGCTTCAAGAAT
CGAGTTACCCACCAGAACCCTAATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGT
CTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGT
GGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCT
TGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGT
GAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCT
CAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGC
GCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCAT
GGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGG
CCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTC
TGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCC
AGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCT
GAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATC
CAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATC
AACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTC
TGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCC
CAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAG
AAATATGGGGAAAAGCGACCTGTGGACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACCCCGTGCAGTGCATTCAGACA
CCCCGCAAAGCAGGACTCTGTGGAAATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAACTTTCTACAGTTTTCTTAAT
CAAAAGTGGTCTAGGTAACCTGTAAAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGTTTTAAAAATCACTGCTTCAA
TCTACTTCAAAAGAATGGTGTTTCTTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCCATAAGGTTTAAAAAAAAGGA
AAAAAAACGGTTGTGGTTCCCTTTCTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTTTCACTTACTTACTTCCCCAG
ACCCCGGGCTCGCCTCCACAAAGGAGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGTGGCACTGTTGCCCAGTGTGG
GAGTTGGTTTAAATTCTCCTGACTCCAGTTTATAACATCCTTTTAAAAAATTTAAAAACAAACAGCCACACCCCTCCTCCAGTCCTTCTC
CTCAGTTCTTGTGTGAAACTCCAGCTGATGTTACCACAGTAACATCAGTTAATTGGGCAAGCCCTGATGTCAGTGTGTGTAACTGACCTC
TGGCCTGGCCTGCACAGAGAAGCCCTATAATCACAGGTCTGTGGTGGCCCCGAAATGGGGGGCCTGCTAGTCAGGAGGATGCTGTGCACA
CTGTGTGTGATGAATCTCGCCAGAAAGGCTCCTGAGGTCCCAGGTTGGCACTTCTCCCTGCAGCCATTGTAGAAGATCTGCTGGTCCTTG
CAGGCAAAGCTACAGCCAGAATGTCCGTTTGAAACTCCTAGCTCATCTGTCACCGAGCTTCATCCGAATGTGCCACGGAGCTTGCTCTCC
ACTTCCTCCGTGCAGTGGCCCTGCCACAGCCCTCCCTCGGCACACTTTGACCCTTTGTAGGATTGGAATTAGCAGGACTCGGCTATTTAA
AGCACCAGTCTGGGGTCGCCTGGGCCCCTGCTGACCCCCTCCTCCAGAGCAGCCAGCCCAGCCCGGGAACAAGACGGACTTCCTCTCCCT
TCGGACTCACAGCCTTTGCAGAGTCAAGCTCCACTTGAAGCTCACTCAGTAATATCCTTTCAATGTGTTTTATATTGTTTTGACTGCCTT
TTTTTGTAGAAATAAAAATTGACCTTAGAATTTATCGTCAGATAAACTTGTAAAGATTTGAATATTAATGTCTTTTCAAGGCAAATGGGA
TTGTCCCCGCACTAGTAGAGAATCCATGTCGCTCTGACACCCCAAGGAAGCCGACGATCCAAATGCCGTGTGTCACCAACCCCGCTTCTG
CCACTGGCGGCTTCCCTTCTTGGCTCTTGGGGGGGACTAGATCCTGTGGAGAAGATGACTTAAACTTTGCTTTTTGTTTTAATTTTAATT
CTATAACTTGAGATCTTTCCGGGGCCTACAGGCGTGTAAGACAGCTTGGTCTGGTCTGTGCAGAAGTGGGGAGTGATGGGCAGGTTCGGC
AGCCTAACATTGTTCAGGCGCATGGCCCCTGCGGTGTGTACACGAACTCGGCTTCTTTTGTCCTAGGTACGCCAAGGGCAGGTTTCTGGA
GACTCCCTTGTGCCCGGGATGGCAAGGGCACCGGGCTGGCGTTTCCACATCTGTCTTCATTAGCAGAAAAGTGATGATGGATTTTATTTC
ACTCACACTCCAGTTTGTAATAAAATGCCAAATTCTGTCAGCTATCCAAACAAGCCACCATTTGTTCTTGTTGCTTCTCTGGATCCAGAA
ATGTTGCCATTCTTGGAAACTGTCCCATTGCTTCGTATTTCTGCCAACGTAGCTCTGCCTGCCTGTCAACCCCTCACTGCACTCTGCTCA
TCACGGGAGGATACCTGTGTGCCGGCAGCCCCTCAGGGACTCTCAGCCCTGGCACTGGCACCCCAGGGTTGGCCCCGTCAGCAGAGGCTT
GGCTTTCGAGCCAGTGGGTGTCTCTCCTTTGGGCCTGGGCGGCTTGCTCCTGCCAGCCATGCCTTCAGGGTAGGCTCTGAGCAAGCTGGC
GAACAGCCCTGGCTGCTCCAAAACCAAAAAGCTGGGTCCTCTGGAGGAGGGGCGAGCTGTGGAGCAGCCACCCACTGCTGCCCCAAGCTC
ACTCAGGAATTCACACCCGCCTGGTTTCTTGAAGTGTGCTGGGTCCTTCCCTCTGCTCCCTACTCCCCACCACGGCAGAGAATAGGCTTT

>In-frame_HPS4_ENST00000402105_chr22_26859883_-_UBE2L3_ENST00000458578_chr22_21947150_+_3019nt
AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT
TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT
ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT
AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG
GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGA
CAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAA
GTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTC
TTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAA
ATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAG
GCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTC
CCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACAT
GGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAG
ATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAA
AACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAAC
GGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCC
CTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGT
CATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACG
CCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGAC
CATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGAT
CCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGT
CTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGC
ATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGC
GCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTG
ACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTC
AAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAA
AACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCT
GACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAGAAATATGGGGAAAAGCGACCTGTG
GACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACCCCGTGCAGTGCATTCAGACACCCCGCAAAGCAGGACTCTGTGGA
AATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAACTTTCTACAGTTTTCTTAATCAAAAGTGGTCTAGGTAACCTGTA
AAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGTTTTAAAAATCACTGCTTCAATCTACTTCAAAAGAATGGTGTTTC
TTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCCATAAGGTTTAAAAAAAAGGAAAAAAAACGGTTGTGGTTCCCTTT
CTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTTTCACTTACTTACTTCCCCAGACCCCGGGCTCGCCTCCACAAAGG
AGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGTGGCACTGTTGCCCAGTGTGGGAGTTGGTTTAAATTCTCCTGACT

>In-frame_HPS4_ENST00000402105_chr22_26859883_-_UBE2L3_ENST00000342192_chr22_21947150_+_4801nt
AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT
TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT
ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT
AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG
GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGA
CAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAA
GTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTC
TTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAA
ATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAG
GCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTC
CCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACAT
GGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAG
ATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAA
AACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAAC
GGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCC
CTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGT
CATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACG
CCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGAC
CATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGAT
CCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGT
CTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGC
ATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGC
GCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTG
ACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTC
AAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAA
AACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCT
GACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAGAAATATGGGGAAAAGCGACCTGTG
GACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACCCCGTGCAGTGCATTCAGACACCCCGCAAAGCAGGACTCTGTGGA
AATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAACTTTCTACAGTTTTCTTAATCAAAAGTGGTCTAGGTAACCTGTA
AAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGTTTTAAAAATCACTGCTTCAATCTACTTCAAAAGAATGGTGTTTC
TTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCCATAAGGTTTAAAAAAAAGGAAAAAAAACGGTTGTGGTTCCCTTT
CTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTTTCACTTACTTACTTCCCCAGACCCCGGGCTCGCCTCCACAAAGG
AGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGTGGCACTGTTGCCCAGTGTGGGAGTTGGTTTAAATTCTCCTGACT
CCAGTTTATAACATCCTTTTAAAAAATTTAAAAACAAACAGCCACACCCCTCCTCCAGTCCTTCTCCTCAGTTCTTGTGTGAAACTCCAG
CTGATGTTACCACAGTAACATCAGTTAATTGGGCAAGCCCTGATGTCAGTGTGTGTAACTGACCTCTGGCCTGGCCTGCACAGAGAAGCC
CTATAATCACAGGTCTGTGGTGGCCCCGAAATGGGGGGCCTGCTAGTCAGGAGGATGCTGTGCACACTGTGTGTGATGAATCTCGCCAGA
AAGGCTCCTGAGGTCCCAGGTTGGCACTTCTCCCTGCAGCCATTGTAGAAGATCTGCTGGTCCTTGCAGGCAAAGCTACAGCCAGAATGT
CCGTTTGAAACTCCTAGCTCATCTGTCACCGAGCTTCATCCGAATGTGCCACGGAGCTTGCTCTCCACTTCCTCCGTGCAGTGGCCCTGC
CACAGCCCTCCCTCGGCACACTTTGACCCTTTGTAGGATTGGAATTAGCAGGACTCGGCTATTTAAAGCACCAGTCTGGGGTCGCCTGGG
CCCCTGCTGACCCCCTCCTCCAGAGCAGCCAGCCCAGCCCGGGAACAAGACGGACTTCCTCTCCCTTCGGACTCACAGCCTTTGCAGAGT
CAAGCTCCACTTGAAGCTCACTCAGTAATATCCTTTCAATGTGTTTTATATTGTTTTGACTGCCTTTTTTTGTAGAAATAAAAATTGACC
TTAGAATTTATCGTCAGATAAACTTGTAAAGATTTGAATATTAATGTCTTTTCAAGGCAAATGGGATTGTCCCCGCACTAGTAGAGAATC
CATGTCGCTCTGACACCCCAAGGAAGCCGACGATCCAAATGCCGTGTGTCACCAACCCCGCTTCTGCCACTGGCGGCTTCCCTTCTTGGC
TCTTGGGGGGGACTAGATCCTGTGGAGAAGATGACTTAAACTTTGCTTTTTGTTTTAATTTTAATTCTATAACTTGAGATCTTTCCGGGG
CCTACAGGCGTGTAAGACAGCTTGGTCTGGTCTGTGCAGAAGTGGGGAGTGATGGGCAGGTTCGGCAGCCTAACATTGTTCAGGCGCATG
GCCCCTGCGGTGTGTACACGAACTCGGCTTCTTTTGTCCTAGGTACGCCAAGGGCAGGTTTCTGGAGACTCCCTTGTGCCCGGGATGGCA
AGGGCACCGGGCTGGCGTTTCCACATCTGTCTTCATTAGCAGAAAAGTGATGATGGATTTTATTTCACTCACACTCCAGTTTGTAATAAA
ATGCCAAATTCTGTCAGCTATCCAAACAAGCCACCATTTGTTCTTGTTGCTTCTCTGGATCCAGAAATGTTGCCATTCTTGGAAACTGTC
CCATTGCTTCGTATTTCTGCCAACGTAGCTCTGCCTGCCTGTCAACCCCTCACTGCACTCTGCTCATCACGGGAGGATACCTGTGTGCCG
GCAGCCCCTCAGGGACTCTCAGCCCTGGCACTGGCACCCCAGGGTTGGCCCCGTCAGCAGAGGCTTGGCTTTCGAGCCAGTGGGTGTCTC
TCCTTTGGGCCTGGGCGGCTTGCTCCTGCCAGCCATGCCTTCAGGGTAGGCTCTGAGCAAGCTGGCGAACAGCCCTGGCTGCTCCAAAAC
CAAAAAGCTGGGTCCTCTGGAGGAGGGGCGAGCTGTGGAGCAGCCACCCACTGCTGCCCCAAGCTCACTCAGGAATTCACACCCGCCTGG
TTTCTTGAAGTGTGCTGGGTCCTTCCCTCTGCTCCCTACTCCCCACCACGGCAGAGAATAGGCTTTCTAAGATGCTGCGATCCCGTTCTG

>In-frame_HPS4_ENST00000336873_chr22_26859883_-_UBE2L3_ENST00000458578_chr22_21947150_+_3243nt
GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA
TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA
AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT
CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA
CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA
AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT
CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT
ATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTC
CTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCC
CTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTT
CTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCT
GGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCG
CTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTC
AGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGA
CCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAG
CCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATC
CCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGAC
TGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTG
AAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTT
ACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTC
CTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTC
TCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGG
ATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCT
CTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGC
TGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGA
TGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGG
GAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACA
TCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCA
TAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGA
ATGCTGAAGAGTTTACAAAGAAATATGGGGAAAAGCGACCTGTGGACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACC
CCGTGCAGTGCATTCAGACACCCCGCAAAGCAGGACTCTGTGGAAATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAA
CTTTCTACAGTTTTCTTAATCAAAAGTGGTCTAGGTAACCTGTAAAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGT
TTTAAAAATCACTGCTTCAATCTACTTCAAAAGAATGGTGTTTCTTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCC
ATAAGGTTTAAAAAAAAGGAAAAAAAACGGTTGTGGTTCCCTTTCTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTT
TCACTTACTTACTTCCCCAGACCCCGGGCTCGCCTCCACAAAGGAGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGT
GGCACTGTTGCCCAGTGTGGGAGTTGGTTTAAATTCTCCTGACTCCAGTTTATAACATCCTTTTAAAAAATTTAAAAACAAACAGCCACA

>In-frame_HPS4_ENST00000336873_chr22_26859883_-_UBE2L3_ENST00000342192_chr22_21947150_+_5025nt
GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA
TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA
AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT
CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA
CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA
AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT
CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT
ATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTC
CTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCC
CTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTT
CTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCT
GGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCG
CTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTC
AGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGA
CCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAG
CCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATC
CCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGAC
TGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTG
AAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTT
ACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTC
CTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTC
TCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGG
ATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCT
CTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGC
TGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGA
TGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGG
GAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACA
TCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCA
TAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGA
ATGCTGAAGAGTTTACAAAGAAATATGGGGAAAAGCGACCTGTGGACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACC
CCGTGCAGTGCATTCAGACACCCCGCAAAGCAGGACTCTGTGGAAATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAA
CTTTCTACAGTTTTCTTAATCAAAAGTGGTCTAGGTAACCTGTAAAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGT
TTTAAAAATCACTGCTTCAATCTACTTCAAAAGAATGGTGTTTCTTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCC
ATAAGGTTTAAAAAAAAGGAAAAAAAACGGTTGTGGTTCCCTTTCTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTT
TCACTTACTTACTTCCCCAGACCCCGGGCTCGCCTCCACAAAGGAGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGT
GGCACTGTTGCCCAGTGTGGGAGTTGGTTTAAATTCTCCTGACTCCAGTTTATAACATCCTTTTAAAAAATTTAAAAACAAACAGCCACA
CCCCTCCTCCAGTCCTTCTCCTCAGTTCTTGTGTGAAACTCCAGCTGATGTTACCACAGTAACATCAGTTAATTGGGCAAGCCCTGATGT
CAGTGTGTGTAACTGACCTCTGGCCTGGCCTGCACAGAGAAGCCCTATAATCACAGGTCTGTGGTGGCCCCGAAATGGGGGGCCTGCTAG
TCAGGAGGATGCTGTGCACACTGTGTGTGATGAATCTCGCCAGAAAGGCTCCTGAGGTCCCAGGTTGGCACTTCTCCCTGCAGCCATTGT
AGAAGATCTGCTGGTCCTTGCAGGCAAAGCTACAGCCAGAATGTCCGTTTGAAACTCCTAGCTCATCTGTCACCGAGCTTCATCCGAATG
TGCCACGGAGCTTGCTCTCCACTTCCTCCGTGCAGTGGCCCTGCCACAGCCCTCCCTCGGCACACTTTGACCCTTTGTAGGATTGGAATT
AGCAGGACTCGGCTATTTAAAGCACCAGTCTGGGGTCGCCTGGGCCCCTGCTGACCCCCTCCTCCAGAGCAGCCAGCCCAGCCCGGGAAC
AAGACGGACTTCCTCTCCCTTCGGACTCACAGCCTTTGCAGAGTCAAGCTCCACTTGAAGCTCACTCAGTAATATCCTTTCAATGTGTTT
TATATTGTTTTGACTGCCTTTTTTTGTAGAAATAAAAATTGACCTTAGAATTTATCGTCAGATAAACTTGTAAAGATTTGAATATTAATG
TCTTTTCAAGGCAAATGGGATTGTCCCCGCACTAGTAGAGAATCCATGTCGCTCTGACACCCCAAGGAAGCCGACGATCCAAATGCCGTG
TGTCACCAACCCCGCTTCTGCCACTGGCGGCTTCCCTTCTTGGCTCTTGGGGGGGACTAGATCCTGTGGAGAAGATGACTTAAACTTTGC
TTTTTGTTTTAATTTTAATTCTATAACTTGAGATCTTTCCGGGGCCTACAGGCGTGTAAGACAGCTTGGTCTGGTCTGTGCAGAAGTGGG
GAGTGATGGGCAGGTTCGGCAGCCTAACATTGTTCAGGCGCATGGCCCCTGCGGTGTGTACACGAACTCGGCTTCTTTTGTCCTAGGTAC
GCCAAGGGCAGGTTTCTGGAGACTCCCTTGTGCCCGGGATGGCAAGGGCACCGGGCTGGCGTTTCCACATCTGTCTTCATTAGCAGAAAA
GTGATGATGGATTTTATTTCACTCACACTCCAGTTTGTAATAAAATGCCAAATTCTGTCAGCTATCCAAACAAGCCACCATTTGTTCTTG
TTGCTTCTCTGGATCCAGAAATGTTGCCATTCTTGGAAACTGTCCCATTGCTTCGTATTTCTGCCAACGTAGCTCTGCCTGCCTGTCAAC
CCCTCACTGCACTCTGCTCATCACGGGAGGATACCTGTGTGCCGGCAGCCCCTCAGGGACTCTCAGCCCTGGCACTGGCACCCCAGGGTT
GGCCCCGTCAGCAGAGGCTTGGCTTTCGAGCCAGTGGGTGTCTCTCCTTTGGGCCTGGGCGGCTTGCTCCTGCCAGCCATGCCTTCAGGG
TAGGCTCTGAGCAAGCTGGCGAACAGCCCTGGCTGCTCCAAAACCAAAAAGCTGGGTCCTCTGGAGGAGGGGCGAGCTGTGGAGCAGCCA
CCCACTGCTGCCCCAAGCTCACTCAGGAATTCACACCCGCCTGGTTTCTTGAAGTGTGCTGGGTCCTTCCCTCTGCTCCCTACTCCCCAC


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FusionGenePPI for HPS4_UBE2L3


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
HPS4RAC1UBE2L3UBOX5, AURKA, BRCA1, RNF216, EIF4E2, ARIH1, PTEN, NEDD4, UBE3A, ARIH2, CUL9, CBL, RNF19A, POLR2A, SMURF2, ITCH, WWP2, UBASH3A, RNF125, RNF144B, RNF113B, RNF144A, RBCK1, TRAF7, DTX3, CBLC, MID1, MKRN3, TRIM39, RNF19B, BIRC2, BIRC3, XIAP, PARK2, MYC, MAPK6, ATXN3, ELAVL1, NFKBIA, FOS, NCOA1, UBA1, RELA, SMAD7, RNF103, NR3C1, HACE1, HUWE1, TRIM28, PJA1, TRAF6, NEDD4L, TRIM21, MDM2, STUB1, FBXO2, RNF2, UBE3C, HERC3, TRIP12, WWP1, UBE2D2, AHCYL1, NDUFA7, USP9X, USP34, ZPR1, C12orf5, UBE2B, USP26, SRPRB, UBXN7, TSNAXIP1, UBE2V2, SF1, MRPL53, YAP1, UCHL3, VDAC2, PSMD2, SUGP1, PSMA5, UBE4B, UBXN1, LIG4, FN1, CCNB1IP1, RBX1, AICDA, HSPA4, BAG3, MAP1LC3B, CACNA1B, UBR5, SMURF1, UBA6, UBC, UBE2L3, MUL1, TP53BP1, UBA7, RNF20, HECW2, RNF31, HSPE1, RAB10, SNX12, SNX3, ACAT2, DAZAP1, HEBP1, MDH2, MMACHC, MSI2, PCK2, PIR, PITPNA, PTRHD1, SOD1, UBE2A, UFM1, NDFIP1, AREL1, CACNA1A, RC3H1, HECW1, MCM2, OTUB1, HERC4, HERC6, DUSP4, DUSP8, DNM1L, TRIM25


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 HPS4_UBE2L3


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 HPS4_UBE2L3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHPS4C0036341Schizophrenia2PSYGENET
TgeneUBE2L3C0524909Hepatitis B, Chronic1CTD_human