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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: 14480

FusionGeneSummary for GBE1_FAM19A1

check button Fusion gene summary
Fusion gene informationFusion gene name: GBE1_FAM19A1
Fusion gene ID: 14480
HgeneTgene
Gene symbol

GBE1

FAM19A1

Gene ID

2632

407738

Gene name1,4-alpha-glucan branching enzyme 1family with sequence similarity 19 member A1, C-C motif chemokine like
SynonymsAPBD|GBE|GSD4TAFA-1|TAFA1
Cytomap

3p12.2

3p14.1

Type of geneprotein-codingprotein-coding
Description1,4-alpha-glucan-branching enzymeamylo-(1,4 to 1,6) transglucosidaseamylo-(1,4 to 1,6) transglycosylasebrancher enzymeglucan (1,4-alpha-), branching enzyme 1glycogen branching enzymeprotein FAM19A1chemokine-like protein TAFA-1family with sequence similarity 19 (chemokine (C-C motif)-like), member A1
Modification date2018052320180519
UniProtAcc

Q04446

Q7Z5A9

Ensembl transtripts involved in fusion geneENST00000429644, ENST00000489715, 
ENST00000477426, 
ENST00000478136, 
ENST00000496687, ENST00000491017, 
Fusion gene scores* DoF score5 X 5 X 4=1005 X 3 X 4=60
# samples 55
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GBE1 [Title/Abstract] AND FAM19A1 [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
HgeneGBE1

GO:0005978

glycogen biosynthetic process

26199317


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
TCGALDSKCMTCGA-WE-A8ZR-06AGBE1chr3

81643059

-FAM19A1chr3

68466430

+
* 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-frameENST00000429644ENST00000478136GBE1chr3

81643059

-FAM19A1chr3

68466430

+
In-frameENST00000429644ENST00000496687GBE1chr3

81643059

-FAM19A1chr3

68466430

+
5CDS-3UTRENST00000429644ENST00000491017GBE1chr3

81643059

-FAM19A1chr3

68466430

+
In-frameENST00000489715ENST00000478136GBE1chr3

81643059

-FAM19A1chr3

68466430

+
In-frameENST00000489715ENST00000496687GBE1chr3

81643059

-FAM19A1chr3

68466430

+
5CDS-3UTRENST00000489715ENST00000491017GBE1chr3

81643059

-FAM19A1chr3

68466430

+
intron-3CDSENST00000477426ENST00000478136GBE1chr3

81643059

-FAM19A1chr3

68466430

+
intron-3CDSENST00000477426ENST00000496687GBE1chr3

81643059

-FAM19A1chr3

68466430

+
intron-3UTRENST00000477426ENST00000491017GBE1chr3

81643059

-FAM19A1chr3

68466430

+

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FusionProtFeatures for GBE1_FAM19A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GBE1

Q04446

FAM19A1

Q7Z5A9

Required for normal glycogen accumulation(PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6branches of glycogen play an important role in increasing thesolubility of the molecule (Probable).{ECO:0000269|PubMed:26199317, ECO:0000269|PubMed:8463281,ECO:0000269|PubMed:8613547, ECO:0000305}.

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
HgeneGBE1chr3:81643059chr3:68466430ENST00000429644-816118_121369703RegionSubstrate binding
HgeneGBE1chr3:81643059chr3:68466430ENST00000429644-816333_336369703RegionSubstrate binding
HgeneGBE1chr3:81643059chr3:68466430ENST00000429644-81662_63369703RegionSubstrate binding
HgeneGBE1chr3:81643059chr3:68466430ENST00000429644-81691_93369703RegionSubstrate binding

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


Top

FusionGeneSequence for GBE1_FAM19A1


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_GBE1_ENST00000429644_chr3_81643059_-_FAM19A1_ENST00000478136_chr3_68466430_+_464aa
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKE
WAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDP
EHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQ
ELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVT
SMLYHHHGVEGGTCEVIAAHRCCNKNRIEERSQTVKCSCLPGKVAGTTRNRPSCVDASIVIGKWWCEMEPCLEGEECKTLPDNSGWMCAT

>In-frame_GBE1_ENST00000429644_chr3_81643059_-_FAM19A1_ENST00000496687_chr3_68466430_+_464aa
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKE
WAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDP
EHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQ
ELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVT
SMLYHHHGVEGGTCEVIAAHRCCNKNRIEERSQTVKCSCLPGKVAGTTRNRPSCVDASIVIGKWWCEMEPCLEGEECKTLPDNSGWMCAT

>In-frame_GBE1_ENST00000489715_chr3_81643059_-_FAM19A1_ENST00000478136_chr3_68466430_+_423aa
MNLAKVRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQN
KSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTC
NVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYF
HSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVEGGTCEVIAAHRCCNKNRIEERSQTVKCSCLP

>In-frame_GBE1_ENST00000489715_chr3_81643059_-_FAM19A1_ENST00000496687_chr3_68466430_+_423aa
MNLAKVRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQN
KSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTC
NVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYF
HSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVEGGTCEVIAAHRCCNKNRIEERSQTVKCSCLP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_GBE1_ENST00000429644_chr3_81643059_-_FAM19A1_ENST00000478136_chr3_68466430_+_1392nt
ATGGCGGCTCCGATGACTCCCGCGGCTCGGCCCGAGGACTACGAGGCGGCGCTCAATGCCGCCCTGGCTGACGTGCCCGAACTGGCCAGA
CTCCTGGAGATCGACCCGTACTTGAAGCCCTACGCCGTGGACTTCCAGCGCAGGTATAAGCAGTTTAGCCAAATTTTGAAGAACATTGGA
GAAAATGAAGGTGGTATTGATAAGTTTTCCAGAGGCTATGAATCATTTGGCGTCCACAGATGTGCTGATGGTGGTTTATACTGCAAAGAA
TGGGCCCCGGGAGCAGAAGGAGTTTTTCTTACTGGAGATTTTAATGGTTGGAATCCATTTTCGTACCCATACAAAAAACTGGATTATGGA
AAATGGGAGCTGTATATCCCACCAAAGCAGAATAAATCTGTACTCGTGCCTCATGGATCCAAATTAAAGGTAGTTATTACTAGTAAAAGC
GGAGAGATCTTGTATCGTATTTCACCGTGGGCAAAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATGATTGGATACACTGGGATCCA
GAACACTCATATGAGTTTAAGCATTCCAGACCAAAGAAGCCACGGAGTCTAAGAATTTATGAATCTCATGTGGGAATTTCTTCCCATGAA
GGAAAAGTAGCTTCTTATAAACATTTTACATGCAATGTACTACCAAGAATCAAAGGCCTTGGATACAACTGCATTCAGTTGATGGCAATC
ATGGAGCATGCTTACTATGCCAGCTTTGGTTACCAAATCACAAGCTTCTTTGCAGCTTCCAGCCGTTATGGAACACCTGAAGAGCTACAA
GAACTGGTAGACACAGCTCATTCCATGGGTATCATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAAAAAATTCAGCAGATGGATTG
AATATGTTTGATGGGACAGATTCCTGTTATTTTCATTCTGGACCTAGAGGGACTCATGATCTTTGGGATAGCAGATTGTTTGCCTACTCC
AGCTGGGAAATTTTAAGATTCCTTCTGTCAAACATAAGATGGTGGTTGGAAGAATATCGCTTTGATGGATTTCGTTTTGATGGTGTTACG
TCCATGCTTTATCATCACCATGGAGTGGAAGGAGGGACGTGTGAAGTGATAGCAGCACACCGATGTTGTAACAAGAATCGCATTGAGGAG
CGGTCACAAACAGTAAAGTGTTCCTGTCTACCTGGAAAAGTGGCTGGAACAACAAGAAACCGGCCTTCTTGCGTCGATGCCTCCATAGTG
ATTGGGAAATGGTGGTGTGAGATGGAGCCTTGCCTAGAAGGAGAAGAATGTAAGACACTCCCTGACAATTCTGGATGGATGTGCGCAACA

>In-frame_GBE1_ENST00000429644_chr3_81643059_-_FAM19A1_ENST00000496687_chr3_68466430_+_1392nt
ATGGCGGCTCCGATGACTCCCGCGGCTCGGCCCGAGGACTACGAGGCGGCGCTCAATGCCGCCCTGGCTGACGTGCCCGAACTGGCCAGA
CTCCTGGAGATCGACCCGTACTTGAAGCCCTACGCCGTGGACTTCCAGCGCAGGTATAAGCAGTTTAGCCAAATTTTGAAGAACATTGGA
GAAAATGAAGGTGGTATTGATAAGTTTTCCAGAGGCTATGAATCATTTGGCGTCCACAGATGTGCTGATGGTGGTTTATACTGCAAAGAA
TGGGCCCCGGGAGCAGAAGGAGTTTTTCTTACTGGAGATTTTAATGGTTGGAATCCATTTTCGTACCCATACAAAAAACTGGATTATGGA
AAATGGGAGCTGTATATCCCACCAAAGCAGAATAAATCTGTACTCGTGCCTCATGGATCCAAATTAAAGGTAGTTATTACTAGTAAAAGC
GGAGAGATCTTGTATCGTATTTCACCGTGGGCAAAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATGATTGGATACACTGGGATCCA
GAACACTCATATGAGTTTAAGCATTCCAGACCAAAGAAGCCACGGAGTCTAAGAATTTATGAATCTCATGTGGGAATTTCTTCCCATGAA
GGAAAAGTAGCTTCTTATAAACATTTTACATGCAATGTACTACCAAGAATCAAAGGCCTTGGATACAACTGCATTCAGTTGATGGCAATC
ATGGAGCATGCTTACTATGCCAGCTTTGGTTACCAAATCACAAGCTTCTTTGCAGCTTCCAGCCGTTATGGAACACCTGAAGAGCTACAA
GAACTGGTAGACACAGCTCATTCCATGGGTATCATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAAAAAATTCAGCAGATGGATTG
AATATGTTTGATGGGACAGATTCCTGTTATTTTCATTCTGGACCTAGAGGGACTCATGATCTTTGGGATAGCAGATTGTTTGCCTACTCC
AGCTGGGAAATTTTAAGATTCCTTCTGTCAAACATAAGATGGTGGTTGGAAGAATATCGCTTTGATGGATTTCGTTTTGATGGTGTTACG
TCCATGCTTTATCATCACCATGGAGTGGAAGGAGGGACGTGTGAAGTGATAGCAGCACACCGATGTTGTAACAAGAATCGCATTGAGGAG
CGGTCACAAACAGTAAAGTGTTCCTGTCTACCTGGAAAAGTGGCTGGAACAACAAGAAACCGGCCTTCTTGCGTCGATGCCTCCATAGTG
ATTGGGAAATGGTGGTGTGAGATGGAGCCTTGCCTAGAAGGAGAAGAATGTAAGACACTCCCTGACAATTCTGGATGGATGTGCGCAACA

>In-frame_GBE1_ENST00000489715_chr3_81643059_-_FAM19A1_ENST00000478136_chr3_68466430_+_1269nt
ATGAATCTTGCTAAAGTGAGGTATAAGCAGTTTAGCCAAATTTTGAAGAACATTGGAGAAAATGAAGGTGGTATTGATAAGTTTTCCAGA
GGCTATGAATCATTTGGCGTCCACAGATGTGCTGATGGTGGTTTATACTGCAAAGAATGGGCCCCGGGAGCAGAAGGAGTTTTTCTTACT
GGAGATTTTAATGGTTGGAATCCATTTTCGTACCCATACAAAAAACTGGATTATGGAAAATGGGAGCTGTATATCCCACCAAAGCAGAAT
AAATCTGTACTCGTGCCTCATGGATCCAAATTAAAGGTAGTTATTACTAGTAAAAGCGGAGAGATCTTGTATCGTATTTCACCGTGGGCA
AAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATGATTGGATACACTGGGATCCAGAACACTCATATGAGTTTAAGCATTCCAGACCA
AAGAAGCCACGGAGTCTAAGAATTTATGAATCTCATGTGGGAATTTCTTCCCATGAAGGAAAAGTAGCTTCTTATAAACATTTTACATGC
AATGTACTACCAAGAATCAAAGGCCTTGGATACAACTGCATTCAGTTGATGGCAATCATGGAGCATGCTTACTATGCCAGCTTTGGTTAC
CAAATCACAAGCTTCTTTGCAGCTTCCAGCCGTTATGGAACACCTGAAGAGCTACAAGAACTGGTAGACACAGCTCATTCCATGGGTATC
ATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAAAAAATTCAGCAGATGGATTGAATATGTTTGATGGGACAGATTCCTGTTATTTT
CATTCTGGACCTAGAGGGACTCATGATCTTTGGGATAGCAGATTGTTTGCCTACTCCAGCTGGGAAATTTTAAGATTCCTTCTGTCAAAC
ATAAGATGGTGGTTGGAAGAATATCGCTTTGATGGATTTCGTTTTGATGGTGTTACGTCCATGCTTTATCATCACCATGGAGTGGAAGGA
GGGACGTGTGAAGTGATAGCAGCACACCGATGTTGTAACAAGAATCGCATTGAGGAGCGGTCACAAACAGTAAAGTGTTCCTGTCTACCT
GGAAAAGTGGCTGGAACAACAAGAAACCGGCCTTCTTGCGTCGATGCCTCCATAGTGATTGGGAAATGGTGGTGTGAGATGGAGCCTTGC
CTAGAAGGAGAAGAATGTAAGACACTCCCTGACAATTCTGGATGGATGTGCGCAACAGGCAACAAAATTAAGACCACGAGAATTCACCCA

>In-frame_GBE1_ENST00000489715_chr3_81643059_-_FAM19A1_ENST00000496687_chr3_68466430_+_1269nt
ATGAATCTTGCTAAAGTGAGGTATAAGCAGTTTAGCCAAATTTTGAAGAACATTGGAGAAAATGAAGGTGGTATTGATAAGTTTTCCAGA
GGCTATGAATCATTTGGCGTCCACAGATGTGCTGATGGTGGTTTATACTGCAAAGAATGGGCCCCGGGAGCAGAAGGAGTTTTTCTTACT
GGAGATTTTAATGGTTGGAATCCATTTTCGTACCCATACAAAAAACTGGATTATGGAAAATGGGAGCTGTATATCCCACCAAAGCAGAAT
AAATCTGTACTCGTGCCTCATGGATCCAAATTAAAGGTAGTTATTACTAGTAAAAGCGGAGAGATCTTGTATCGTATTTCACCGTGGGCA
AAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATGATTGGATACACTGGGATCCAGAACACTCATATGAGTTTAAGCATTCCAGACCA
AAGAAGCCACGGAGTCTAAGAATTTATGAATCTCATGTGGGAATTTCTTCCCATGAAGGAAAAGTAGCTTCTTATAAACATTTTACATGC
AATGTACTACCAAGAATCAAAGGCCTTGGATACAACTGCATTCAGTTGATGGCAATCATGGAGCATGCTTACTATGCCAGCTTTGGTTAC
CAAATCACAAGCTTCTTTGCAGCTTCCAGCCGTTATGGAACACCTGAAGAGCTACAAGAACTGGTAGACACAGCTCATTCCATGGGTATC
ATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAAAAAATTCAGCAGATGGATTGAATATGTTTGATGGGACAGATTCCTGTTATTTT
CATTCTGGACCTAGAGGGACTCATGATCTTTGGGATAGCAGATTGTTTGCCTACTCCAGCTGGGAAATTTTAAGATTCCTTCTGTCAAAC
ATAAGATGGTGGTTGGAAGAATATCGCTTTGATGGATTTCGTTTTGATGGTGTTACGTCCATGCTTTATCATCACCATGGAGTGGAAGGA
GGGACGTGTGAAGTGATAGCAGCACACCGATGTTGTAACAAGAATCGCATTGAGGAGCGGTCACAAACAGTAAAGTGTTCCTGTCTACCT
GGAAAAGTGGCTGGAACAACAAGAAACCGGCCTTCTTGCGTCGATGCCTCCATAGTGATTGGGAAATGGTGGTGTGAGATGGAGCCTTGC
CTAGAAGGAGAAGAATGTAAGACACTCCCTGACAATTCTGGATGGATGTGCGCAACAGGCAACAAAATTAAGACCACGAGAATTCACCCA


* Fusion transcript sequences (Full-length transcript).
>In-frame_GBE1_ENST00000429644_chr3_81643059_-_FAM19A1_ENST00000478136_chr3_68466430_+_3158nt
AAACTTAGGAGAGTCCTGGTTGTAAGAGGTATTAACATTTTCAGCAGTAGTACTCTAGCTACACTTGACTGTTCCCCTCTCTGTGAATTT
ACATGATATGTTTGAAATACTGCCCCTCAAAAGTCTCAGAACTTTGAGAAATACGGTCCTTTCCAAAAAAACCCCTTATGTCCAATTTGA
AGGGGTCGCTGTCAGTGGGTGCTTAAGTGGGTAAAGAAAAGCCAAGAATATGTCAGGGTGAGGAAGGCCAAGGCTGAGCGAGGTCAGCTT
GGGACCCACCTCCTAGAATGACCTCCGCCAGCAGGAAAAAACCGTTAAGGGGAGGAAAGGGCAGGTCCCTGCGGCCTCCAGGTGCCAGCC
GCGTGAGTGGGCGGAGAGGCCTCGGTGCCTCCTACCCGCTCCGGACGTGCGTCCCGGCATCACCCCGGGATCCGCTCCTCCCCGCTGGCG
GGGGGAGAAAGGGCAGGAGGCCTTCCGTCCCGGCTATAAAGGGCCCCGGACCGCCGCGGCTCGCCTCGGCTTGCCTCGACACGCCTAGGC
GCCCTCCGGCTCCGCCCTAGCCGCCGCGTCCCAGCTAGAGCTCCAGCGCCCGCTCAGGCCCCACTCGACCTCTCGGGCCTCGGCTACTTG
GACTGCGGCGGAATATGGCGGCTCCGATGACTCCCGCGGCTCGGCCCGAGGACTACGAGGCGGCGCTCAATGCCGCCCTGGCTGACGTGC
CCGAACTGGCCAGACTCCTGGAGATCGACCCGTACTTGAAGCCCTACGCCGTGGACTTCCAGCGCAGGTATAAGCAGTTTAGCCAAATTT
TGAAGAACATTGGAGAAAATGAAGGTGGTATTGATAAGTTTTCCAGAGGCTATGAATCATTTGGCGTCCACAGATGTGCTGATGGTGGTT
TATACTGCAAAGAATGGGCCCCGGGAGCAGAAGGAGTTTTTCTTACTGGAGATTTTAATGGTTGGAATCCATTTTCGTACCCATACAAAA
AACTGGATTATGGAAAATGGGAGCTGTATATCCCACCAAAGCAGAATAAATCTGTACTCGTGCCTCATGGATCCAAATTAAAGGTAGTTA
TTACTAGTAAAAGCGGAGAGATCTTGTATCGTATTTCACCGTGGGCAAAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATGATTGGA
TACACTGGGATCCAGAACACTCATATGAGTTTAAGCATTCCAGACCAAAGAAGCCACGGAGTCTAAGAATTTATGAATCTCATGTGGGAA
TTTCTTCCCATGAAGGAAAAGTAGCTTCTTATAAACATTTTACATGCAATGTACTACCAAGAATCAAAGGCCTTGGATACAACTGCATTC
AGTTGATGGCAATCATGGAGCATGCTTACTATGCCAGCTTTGGTTACCAAATCACAAGCTTCTTTGCAGCTTCCAGCCGTTATGGAACAC
CTGAAGAGCTACAAGAACTGGTAGACACAGCTCATTCCATGGGTATCATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAAAAAATT
CAGCAGATGGATTGAATATGTTTGATGGGACAGATTCCTGTTATTTTCATTCTGGACCTAGAGGGACTCATGATCTTTGGGATAGCAGAT
TGTTTGCCTACTCCAGCTGGGAAATTTTAAGATTCCTTCTGTCAAACATAAGATGGTGGTTGGAAGAATATCGCTTTGATGGATTTCGTT
TTGATGGTGTTACGTCCATGCTTTATCATCACCATGGAGTGGAAGGAGGGACGTGTGAAGTGATAGCAGCACACCGATGTTGTAACAAGA
ATCGCATTGAGGAGCGGTCACAAACAGTAAAGTGTTCCTGTCTACCTGGAAAAGTGGCTGGAACAACAAGAAACCGGCCTTCTTGCGTCG
ATGCCTCCATAGTGATTGGGAAATGGTGGTGTGAGATGGAGCCTTGCCTAGAAGGAGAAGAATGTAAGACACTCCCTGACAATTCTGGAT
GGATGTGCGCAACAGGCAACAAAATTAAGACCACGAGAATTCACCCAAGAACCTAACAGAAGCATTTGTGGTAGTAAAGGAAAACCAACC
CTCTGGAAAATACATTTTGAGAATCTCAAACATCTCACATATATACAAGCCAAATGGATTTCTTACTTGCACTTTGACTGGCTACCAGAT
AATCACAGTGCGTTTACTGTGTGTAACGAAATATCCTACAGTGAGAAGACACAGCGTTTTGGCAACACCATGGAAAGTGGGCTTAAAAAA
GGGTTTTCTCAGTGAAATTTTTGGGCATCATGAAGAACGATCAACTATCTTCTAATTTGAATCTATAGTTACTTTGTACCATTTGAAATA
TATGTATATATATATATATAATATTTTGAAATATTATCTATTCTCTTCAAGAAATGAACAGTACCACAGTTTGAGACGGCTGGTGTACCC
CTTTGAGTTTTGGATGTTTTGTCTGTTTTGCTTTGTTTTGTTAGTCATTTCTTTTTCTAACGGCAAGGAAGATATGTGCCCTTTTGAGAA
TTCAAGATGGCACTGACACGGGAAGGCCAGCTACAGGTGGACTCCTGGAATTTGAGGCATCATAATGATACTGAATCAAGAACTTCCTTC
TGCTTCTACCAGATGGCCCAAGGAAGCACATCGTCCTGTTTTATTGCTTTCTACCCTGTGCAATATTAGCATGCAAGCTTGGCTTACATA
GTCATACTTTATATTCAATTGATATATAATAACCGTTCTAACCTCTTCCAGGAAAATATTTTTAGAACTACTAGCTTTTCCACTTAGAAG
AAAATGAGGATTCTTAAGGGAGCCACTCCACCATGCTATTAAGACTCTGGCAGAGTTATGGGTAGGATATGGATCCCTACATGAATAAGT
CCTGTAAATACAATGTCTTAAGGCTTTGTATAGCTGTCCTAGACTGCAGAAATGTCCTCTGATTAAATCCAAAGTCTGGCATCGTTAACT
ACATAGTGCTGTAGCAACAAGTCTTATCATGGCATCTCTTTCTATGTTTGGTTTGCTTTTTCCAAGAGTATTCAGGTCTCCTCTTGTGAG
ATAGGAAGGCCATGAAAACAATTAGATTTCAAGATGATCTATGTGACCAAATGTTGGACAGCCCTATTAAAGTGGTAAACAACTTCTTTC

>In-frame_GBE1_ENST00000429644_chr3_81643059_-_FAM19A1_ENST00000496687_chr3_68466430_+_3154nt
AAACTTAGGAGAGTCCTGGTTGTAAGAGGTATTAACATTTTCAGCAGTAGTACTCTAGCTACACTTGACTGTTCCCCTCTCTGTGAATTT
ACATGATATGTTTGAAATACTGCCCCTCAAAAGTCTCAGAACTTTGAGAAATACGGTCCTTTCCAAAAAAACCCCTTATGTCCAATTTGA
AGGGGTCGCTGTCAGTGGGTGCTTAAGTGGGTAAAGAAAAGCCAAGAATATGTCAGGGTGAGGAAGGCCAAGGCTGAGCGAGGTCAGCTT
GGGACCCACCTCCTAGAATGACCTCCGCCAGCAGGAAAAAACCGTTAAGGGGAGGAAAGGGCAGGTCCCTGCGGCCTCCAGGTGCCAGCC
GCGTGAGTGGGCGGAGAGGCCTCGGTGCCTCCTACCCGCTCCGGACGTGCGTCCCGGCATCACCCCGGGATCCGCTCCTCCCCGCTGGCG
GGGGGAGAAAGGGCAGGAGGCCTTCCGTCCCGGCTATAAAGGGCCCCGGACCGCCGCGGCTCGCCTCGGCTTGCCTCGACACGCCTAGGC
GCCCTCCGGCTCCGCCCTAGCCGCCGCGTCCCAGCTAGAGCTCCAGCGCCCGCTCAGGCCCCACTCGACCTCTCGGGCCTCGGCTACTTG
GACTGCGGCGGAATATGGCGGCTCCGATGACTCCCGCGGCTCGGCCCGAGGACTACGAGGCGGCGCTCAATGCCGCCCTGGCTGACGTGC
CCGAACTGGCCAGACTCCTGGAGATCGACCCGTACTTGAAGCCCTACGCCGTGGACTTCCAGCGCAGGTATAAGCAGTTTAGCCAAATTT
TGAAGAACATTGGAGAAAATGAAGGTGGTATTGATAAGTTTTCCAGAGGCTATGAATCATTTGGCGTCCACAGATGTGCTGATGGTGGTT
TATACTGCAAAGAATGGGCCCCGGGAGCAGAAGGAGTTTTTCTTACTGGAGATTTTAATGGTTGGAATCCATTTTCGTACCCATACAAAA
AACTGGATTATGGAAAATGGGAGCTGTATATCCCACCAAAGCAGAATAAATCTGTACTCGTGCCTCATGGATCCAAATTAAAGGTAGTTA
TTACTAGTAAAAGCGGAGAGATCTTGTATCGTATTTCACCGTGGGCAAAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATGATTGGA
TACACTGGGATCCAGAACACTCATATGAGTTTAAGCATTCCAGACCAAAGAAGCCACGGAGTCTAAGAATTTATGAATCTCATGTGGGAA
TTTCTTCCCATGAAGGAAAAGTAGCTTCTTATAAACATTTTACATGCAATGTACTACCAAGAATCAAAGGCCTTGGATACAACTGCATTC
AGTTGATGGCAATCATGGAGCATGCTTACTATGCCAGCTTTGGTTACCAAATCACAAGCTTCTTTGCAGCTTCCAGCCGTTATGGAACAC
CTGAAGAGCTACAAGAACTGGTAGACACAGCTCATTCCATGGGTATCATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAAAAAATT
CAGCAGATGGATTGAATATGTTTGATGGGACAGATTCCTGTTATTTTCATTCTGGACCTAGAGGGACTCATGATCTTTGGGATAGCAGAT
TGTTTGCCTACTCCAGCTGGGAAATTTTAAGATTCCTTCTGTCAAACATAAGATGGTGGTTGGAAGAATATCGCTTTGATGGATTTCGTT
TTGATGGTGTTACGTCCATGCTTTATCATCACCATGGAGTGGAAGGAGGGACGTGTGAAGTGATAGCAGCACACCGATGTTGTAACAAGA
ATCGCATTGAGGAGCGGTCACAAACAGTAAAGTGTTCCTGTCTACCTGGAAAAGTGGCTGGAACAACAAGAAACCGGCCTTCTTGCGTCG
ATGCCTCCATAGTGATTGGGAAATGGTGGTGTGAGATGGAGCCTTGCCTAGAAGGAGAAGAATGTAAGACACTCCCTGACAATTCTGGAT
GGATGTGCGCAACAGGCAACAAAATTAAGACCACGAGAATTCACCCAAGAACCTAACAGAAGCATTTGTGGTAGTAAAGGAAAACCAACC
CTCTGGAAAATACATTTTGAGAATCTCAAACATCTCACATATATACAAGCCAAATGGATTTCTTACTTGCACTTTGACTGGCTACCAGAT
AATCACAGTGCGTTTACTGTGTGTAACGAAATATCCTACAGTGAGAAGACACAGCGTTTTGGCAACACCATGGAAAGTGGGCTTAAAAAA
GGGTTTTCTCAGTGAAATTTTTGGGCATCATGAAGAACGATCAACTATCTTCTAATTTGAATCTATAGTTACTTTGTACCATTTGAAATA
TATGTATATATATATATATAATATTTTGAAATATTATCTATTCTCTTCAAGAAATGAACAGTACCACAGTTTGAGACGGCTGGTGTACCC
CTTTGAGTTTTGGATGTTTTGTCTGTTTTGCTTTGTTTTGTTAGTCATTTCTTTTTCTAACGGCAAGGAAGATATGTGCCCTTTTGAGAA
TTCAAGATGGCACTGACACGGGAAGGCCAGCTACAGGTGGACTCCTGGAATTTGAGGCATCATAATGATACTGAATCAAGAACTTCCTTC
TGCTTCTACCAGATGGCCCAAGGAAGCACATCGTCCTGTTTTATTGCTTTCTACCCTGTGCAATATTAGCATGCAAGCTTGGCTTACATA
GTCATACTTTATATTCAATTGATATATAATAACCGTTCTAACCTCTTCCAGGAAAATATTTTTAGAACTACTAGCTTTTCCACTTAGAAG
AAAATGAGGATTCTTAAGGGAGCCACTCCACCATGCTATTAAGACTCTGGCAGAGTTATGGGTAGGATATGGATCCCTACATGAATAAGT
CCTGTAAATACAATGTCTTAAGGCTTTGTATAGCTGTCCTAGACTGCAGAAATGTCCTCTGATTAAATCCAAAGTCTGGCATCGTTAACT
ACATAGTGCTGTAGCAACAAGTCTTATCATGGCATCTCTTTCTATGTTTGGTTTGCTTTTTCCAAGAGTATTCAGGTCTCCTCTTGTGAG
ATAGGAAGGCCATGAAAACAATTAGATTTCAAGATGATCTATGTGACCAAATGTTGGACAGCCCTATTAAAGTGGTAAACAACTTCTTTC

>In-frame_GBE1_ENST00000489715_chr3_81643059_-_FAM19A1_ENST00000478136_chr3_68466430_+_2444nt
AATTTCACTTGGATTCGGCCCAGATTAACAGCTGTTTCTAACTTCGTTGTCCCATGAATCTTGCTAAAGTGAGGTATAAGCAGTTTAGCC
AAATTTTGAAGAACATTGGAGAAAATGAAGGTGGTATTGATAAGTTTTCCAGAGGCTATGAATCATTTGGCGTCCACAGATGTGCTGATG
GTGGTTTATACTGCAAAGAATGGGCCCCGGGAGCAGAAGGAGTTTTTCTTACTGGAGATTTTAATGGTTGGAATCCATTTTCGTACCCAT
ACAAAAAACTGGATTATGGAAAATGGGAGCTGTATATCCCACCAAAGCAGAATAAATCTGTACTCGTGCCTCATGGATCCAAATTAAAGG
TAGTTATTACTAGTAAAAGCGGAGAGATCTTGTATCGTATTTCACCGTGGGCAAAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATG
ATTGGATACACTGGGATCCAGAACACTCATATGAGTTTAAGCATTCCAGACCAAAGAAGCCACGGAGTCTAAGAATTTATGAATCTCATG
TGGGAATTTCTTCCCATGAAGGAAAAGTAGCTTCTTATAAACATTTTACATGCAATGTACTACCAAGAATCAAAGGCCTTGGATACAACT
GCATTCAGTTGATGGCAATCATGGAGCATGCTTACTATGCCAGCTTTGGTTACCAAATCACAAGCTTCTTTGCAGCTTCCAGCCGTTATG
GAACACCTGAAGAGCTACAAGAACTGGTAGACACAGCTCATTCCATGGGTATCATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAA
AAAATTCAGCAGATGGATTGAATATGTTTGATGGGACAGATTCCTGTTATTTTCATTCTGGACCTAGAGGGACTCATGATCTTTGGGATA
GCAGATTGTTTGCCTACTCCAGCTGGGAAATTTTAAGATTCCTTCTGTCAAACATAAGATGGTGGTTGGAAGAATATCGCTTTGATGGAT
TTCGTTTTGATGGTGTTACGTCCATGCTTTATCATCACCATGGAGTGGAAGGAGGGACGTGTGAAGTGATAGCAGCACACCGATGTTGTA
ACAAGAATCGCATTGAGGAGCGGTCACAAACAGTAAAGTGTTCCTGTCTACCTGGAAAAGTGGCTGGAACAACAAGAAACCGGCCTTCTT
GCGTCGATGCCTCCATAGTGATTGGGAAATGGTGGTGTGAGATGGAGCCTTGCCTAGAAGGAGAAGAATGTAAGACACTCCCTGACAATT
CTGGATGGATGTGCGCAACAGGCAACAAAATTAAGACCACGAGAATTCACCCAAGAACCTAACAGAAGCATTTGTGGTAGTAAAGGAAAA
CCAACCCTCTGGAAAATACATTTTGAGAATCTCAAACATCTCACATATATACAAGCCAAATGGATTTCTTACTTGCACTTTGACTGGCTA
CCAGATAATCACAGTGCGTTTACTGTGTGTAACGAAATATCCTACAGTGAGAAGACACAGCGTTTTGGCAACACCATGGAAAGTGGGCTT
AAAAAAGGGTTTTCTCAGTGAAATTTTTGGGCATCATGAAGAACGATCAACTATCTTCTAATTTGAATCTATAGTTACTTTGTACCATTT
GAAATATATGTATATATATATATATAATATTTTGAAATATTATCTATTCTCTTCAAGAAATGAACAGTACCACAGTTTGAGACGGCTGGT
GTACCCCTTTGAGTTTTGGATGTTTTGTCTGTTTTGCTTTGTTTTGTTAGTCATTTCTTTTTCTAACGGCAAGGAAGATATGTGCCCTTT
TGAGAATTCAAGATGGCACTGACACGGGAAGGCCAGCTACAGGTGGACTCCTGGAATTTGAGGCATCATAATGATACTGAATCAAGAACT
TCCTTCTGCTTCTACCAGATGGCCCAAGGAAGCACATCGTCCTGTTTTATTGCTTTCTACCCTGTGCAATATTAGCATGCAAGCTTGGCT
TACATAGTCATACTTTATATTCAATTGATATATAATAACCGTTCTAACCTCTTCCAGGAAAATATTTTTAGAACTACTAGCTTTTCCACT
TAGAAGAAAATGAGGATTCTTAAGGGAGCCACTCCACCATGCTATTAAGACTCTGGCAGAGTTATGGGTAGGATATGGATCCCTACATGA
ATAAGTCCTGTAAATACAATGTCTTAAGGCTTTGTATAGCTGTCCTAGACTGCAGAAATGTCCTCTGATTAAATCCAAAGTCTGGCATCG
TTAACTACATAGTGCTGTAGCAACAAGTCTTATCATGGCATCTCTTTCTATGTTTGGTTTGCTTTTTCCAAGAGTATTCAGGTCTCCTCT
TGTGAGATAGGAAGGCCATGAAAACAATTAGATTTCAAGATGATCTATGTGACCAAATGTTGGACAGCCCTATTAAAGTGGTAAACAACT

>In-frame_GBE1_ENST00000489715_chr3_81643059_-_FAM19A1_ENST00000496687_chr3_68466430_+_2440nt
AATTTCACTTGGATTCGGCCCAGATTAACAGCTGTTTCTAACTTCGTTGTCCCATGAATCTTGCTAAAGTGAGGTATAAGCAGTTTAGCC
AAATTTTGAAGAACATTGGAGAAAATGAAGGTGGTATTGATAAGTTTTCCAGAGGCTATGAATCATTTGGCGTCCACAGATGTGCTGATG
GTGGTTTATACTGCAAAGAATGGGCCCCGGGAGCAGAAGGAGTTTTTCTTACTGGAGATTTTAATGGTTGGAATCCATTTTCGTACCCAT
ACAAAAAACTGGATTATGGAAAATGGGAGCTGTATATCCCACCAAAGCAGAATAAATCTGTACTCGTGCCTCATGGATCCAAATTAAAGG
TAGTTATTACTAGTAAAAGCGGAGAGATCTTGTATCGTATTTCACCGTGGGCAAAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATG
ATTGGATACACTGGGATCCAGAACACTCATATGAGTTTAAGCATTCCAGACCAAAGAAGCCACGGAGTCTAAGAATTTATGAATCTCATG
TGGGAATTTCTTCCCATGAAGGAAAAGTAGCTTCTTATAAACATTTTACATGCAATGTACTACCAAGAATCAAAGGCCTTGGATACAACT
GCATTCAGTTGATGGCAATCATGGAGCATGCTTACTATGCCAGCTTTGGTTACCAAATCACAAGCTTCTTTGCAGCTTCCAGCCGTTATG
GAACACCTGAAGAGCTACAAGAACTGGTAGACACAGCTCATTCCATGGGTATCATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAA
AAAATTCAGCAGATGGATTGAATATGTTTGATGGGACAGATTCCTGTTATTTTCATTCTGGACCTAGAGGGACTCATGATCTTTGGGATA
GCAGATTGTTTGCCTACTCCAGCTGGGAAATTTTAAGATTCCTTCTGTCAAACATAAGATGGTGGTTGGAAGAATATCGCTTTGATGGAT
TTCGTTTTGATGGTGTTACGTCCATGCTTTATCATCACCATGGAGTGGAAGGAGGGACGTGTGAAGTGATAGCAGCACACCGATGTTGTA
ACAAGAATCGCATTGAGGAGCGGTCACAAACAGTAAAGTGTTCCTGTCTACCTGGAAAAGTGGCTGGAACAACAAGAAACCGGCCTTCTT
GCGTCGATGCCTCCATAGTGATTGGGAAATGGTGGTGTGAGATGGAGCCTTGCCTAGAAGGAGAAGAATGTAAGACACTCCCTGACAATT
CTGGATGGATGTGCGCAACAGGCAACAAAATTAAGACCACGAGAATTCACCCAAGAACCTAACAGAAGCATTTGTGGTAGTAAAGGAAAA
CCAACCCTCTGGAAAATACATTTTGAGAATCTCAAACATCTCACATATATACAAGCCAAATGGATTTCTTACTTGCACTTTGACTGGCTA
CCAGATAATCACAGTGCGTTTACTGTGTGTAACGAAATATCCTACAGTGAGAAGACACAGCGTTTTGGCAACACCATGGAAAGTGGGCTT
AAAAAAGGGTTTTCTCAGTGAAATTTTTGGGCATCATGAAGAACGATCAACTATCTTCTAATTTGAATCTATAGTTACTTTGTACCATTT
GAAATATATGTATATATATATATATAATATTTTGAAATATTATCTATTCTCTTCAAGAAATGAACAGTACCACAGTTTGAGACGGCTGGT
GTACCCCTTTGAGTTTTGGATGTTTTGTCTGTTTTGCTTTGTTTTGTTAGTCATTTCTTTTTCTAACGGCAAGGAAGATATGTGCCCTTT
TGAGAATTCAAGATGGCACTGACACGGGAAGGCCAGCTACAGGTGGACTCCTGGAATTTGAGGCATCATAATGATACTGAATCAAGAACT
TCCTTCTGCTTCTACCAGATGGCCCAAGGAAGCACATCGTCCTGTTTTATTGCTTTCTACCCTGTGCAATATTAGCATGCAAGCTTGGCT
TACATAGTCATACTTTATATTCAATTGATATATAATAACCGTTCTAACCTCTTCCAGGAAAATATTTTTAGAACTACTAGCTTTTCCACT
TAGAAGAAAATGAGGATTCTTAAGGGAGCCACTCCACCATGCTATTAAGACTCTGGCAGAGTTATGGGTAGGATATGGATCCCTACATGA
ATAAGTCCTGTAAATACAATGTCTTAAGGCTTTGTATAGCTGTCCTAGACTGCAGAAATGTCCTCTGATTAAATCCAAAGTCTGGCATCG
TTAACTACATAGTGCTGTAGCAACAAGTCTTATCATGGCATCTCTTTCTATGTTTGGTTTGCTTTTTCCAAGAGTATTCAGGTCTCCTCT
TGTGAGATAGGAAGGCCATGAAAACAATTAGATTTCAAGATGATCTATGTGACCAAATGTTGGACAGCCCTATTAAAGTGGTAAACAACT


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FusionGenePPI for GBE1_FAM19A1


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
GBE1ELAVL1, DAK, TRDMT1, EPHB3, PRMT6, ACO1, ADI1, CDA, DNM2, DNM3, GSS, NLE1, PYGB, PYGL, PYGM, UMPS, MIF, PRICKLE3, OAZ1, VAPA, KIFAP3, SETD4, STBD1, GYS1, GYG1, HMGN2FAM19A1RABGGTB, NRXN3, ZER1, M6PR


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 GBE1_FAM19A1


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 GBE1_FAM19A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGBE1C0017923Glycogen Storage Disease Type IV5CTD_human;ORPHANET;UNIPROT
HgeneGBE1C1849722Polyglucosan Body Disease, Adult Form1ORPHANET;UNIPROT