FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 41149

FusionGeneSummary for USP48_MAN1C1

check button Fusion gene summary
Fusion gene informationFusion gene name: USP48_MAN1C1
Fusion gene ID: 41149
HgeneTgene
Gene symbol

USP48

MAN1C1

Gene ID

84196

57134

Gene nameubiquitin specific peptidase 48mannosidase alpha class 1C member 1
SynonymsRAP1GA1|USP31HMIC|MAN1A3|MAN1C|pp6318
Cytomap

1p36.12

1p36.11

Type of geneprotein-codingprotein-coding
Descriptionubiquitin carboxyl-terminal hydrolase 48deubiquitinating enzyme 48ubiquitin specific protease 31ubiquitin thioesterase 48ubiquitin thiolesterase 48ubiquitin-specific-processing protease 48mannosyl-oligosaccharide 1,2-alpha-mannosidase IC1,2-alpha-mannosidase ICprocessing alpha-1,2-mannosidase IC
Modification date2018052220180523
UniProtAcc

Q86UV5

Q9NR34

Ensembl transtripts involved in fusion geneENST00000400301, ENST00000308271, 
ENST00000374732, ENST00000529637, 
ENST00000479177, ENST00000421625, 
ENST00000374332, ENST00000263979, 
ENST00000473891, ENST00000374329, 
Fusion gene scores* DoF score10 X 8 X 7=5604 X 3 X 4=48
# samples 104
** MAII scorelog2(10/560*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: USP48 [Title/Abstract] AND MAN1C1 [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

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
TCGARVLUSCTCGA-85-8070-01AUSP48chr1

22109317

-MAN1C1chr1

26110154

+
* 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-frameENST00000400301ENST00000374332USP48chr1

22109317

-MAN1C1chr1

26110154

+
Frame-shiftENST00000400301ENST00000263979USP48chr1

22109317

-MAN1C1chr1

26110154

+
5CDS-intronENST00000400301ENST00000473891USP48chr1

22109317

-MAN1C1chr1

26110154

+
5CDS-intronENST00000400301ENST00000374329USP48chr1

22109317

-MAN1C1chr1

26110154

+
In-frameENST00000308271ENST00000374332USP48chr1

22109317

-MAN1C1chr1

26110154

+
Frame-shiftENST00000308271ENST00000263979USP48chr1

22109317

-MAN1C1chr1

26110154

+
5CDS-intronENST00000308271ENST00000473891USP48chr1

22109317

-MAN1C1chr1

26110154

+
5CDS-intronENST00000308271ENST00000374329USP48chr1

22109317

-MAN1C1chr1

26110154

+
intron-3CDSENST00000374732ENST00000374332USP48chr1

22109317

-MAN1C1chr1

26110154

+
intron-3CDSENST00000374732ENST00000263979USP48chr1

22109317

-MAN1C1chr1

26110154

+
intron-intronENST00000374732ENST00000473891USP48chr1

22109317

-MAN1C1chr1

26110154

+
intron-intronENST00000374732ENST00000374329USP48chr1

22109317

-MAN1C1chr1

26110154

+
In-frameENST00000529637ENST00000374332USP48chr1

22109317

-MAN1C1chr1

26110154

+
Frame-shiftENST00000529637ENST00000263979USP48chr1

22109317

-MAN1C1chr1

26110154

+
5CDS-intronENST00000529637ENST00000473891USP48chr1

22109317

-MAN1C1chr1

26110154

+
5CDS-intronENST00000529637ENST00000374329USP48chr1

22109317

-MAN1C1chr1

26110154

+
intron-3CDSENST00000479177ENST00000374332USP48chr1

22109317

-MAN1C1chr1

26110154

+
intron-3CDSENST00000479177ENST00000263979USP48chr1

22109317

-MAN1C1chr1

26110154

+
intron-intronENST00000479177ENST00000473891USP48chr1

22109317

-MAN1C1chr1

26110154

+
intron-intronENST00000479177ENST00000374329USP48chr1

22109317

-MAN1C1chr1

26110154

+
In-frameENST00000421625ENST00000374332USP48chr1

22109317

-MAN1C1chr1

26110154

+
Frame-shiftENST00000421625ENST00000263979USP48chr1

22109317

-MAN1C1chr1

26110154

+
5CDS-intronENST00000421625ENST00000473891USP48chr1

22109317

-MAN1C1chr1

26110154

+
5CDS-intronENST00000421625ENST00000374329USP48chr1

22109317

-MAN1C1chr1

26110154

+

Top

FusionProtFeatures for USP48_MAN1C1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
USP48

Q86UV5

MAN1C1

Q9NR34

Involved in the maturation of Asn-linkedoligosaccharides. Trim alpha-1,2-linked mannose residues fromMan(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAcand a small amount of Man(5)GlcNAc.

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
HgeneUSP48chr1:22109317chr1:26110154ENST00000308271-127460_554441036DomainDUSP 1
HgeneUSP48chr1:22109317chr1:26110154ENST00000308271-127569_691441036DomainDUSP 2
HgeneUSP48chr1:22109317chr1:26110154ENST00000308271-127711_824441036DomainDUSP 3
HgeneUSP48chr1:22109317chr1:26110154ENST00000308271-12789_421441036DomainNote=USP
HgeneUSP48chr1:22109317chr1:26110154ENST00000308271-127929_1009441036DomainUbiquitin-like
HgeneUSP48chr1:22109317chr1:26110154ENST00000400301-126460_55444984DomainDUSP 1
HgeneUSP48chr1:22109317chr1:26110154ENST00000400301-126569_69144984DomainDUSP 2
HgeneUSP48chr1:22109317chr1:26110154ENST00000400301-126711_82444984DomainDUSP 3
HgeneUSP48chr1:22109317chr1:26110154ENST00000400301-12689_42144984DomainNote=USP
HgeneUSP48chr1:22109317chr1:26110154ENST00000400301-126929_100944984DomainUbiquitin-like
HgeneUSP48chr1:22109317chr1:26110154ENST00000421625-111460_55444486DomainDUSP 1
HgeneUSP48chr1:22109317chr1:26110154ENST00000421625-111569_69144486DomainDUSP 2
HgeneUSP48chr1:22109317chr1:26110154ENST00000421625-111711_82444486DomainDUSP 3
HgeneUSP48chr1:22109317chr1:26110154ENST00000421625-11189_42144486DomainNote=USP
HgeneUSP48chr1:22109317chr1:26110154ENST00000421625-111929_100944486DomainUbiquitin-like
TgeneMAN1C1chr1:22109317chr1:26110154ENST00000374332+10121_22588631Topological domainCytoplasmic
TgeneMAN1C1chr1:22109317chr1:26110154ENST00000374332+101244_630588631Topological domainLumenal
TgeneMAN1C1chr1:22109317chr1:26110154ENST00000374332+101223_43588631TransmembraneHelical%3B Signal-anchor for type II membrane protein


Top

FusionGeneSequence for USP48_MAN1C1


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_USP48_ENST00000400301_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_87aa

>In-frame_USP48_ENST00000308271_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_87aa

>In-frame_USP48_ENST00000529637_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_87aa

>In-frame_USP48_ENST00000421625_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_87aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_USP48_ENST00000400301_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_261nt
ATGGCCCCGCGGCTGCAGCTGGAGAAGGCGGCCTGGCGCTGGGCGGAGACGGTGCGGCCCGAGGAGGTGTCGCAGGAGCACATCGAGACC
GCTTACCGCATCTGGCTGGAGCCCTGCATTCGCGGCGTGTGCAGGTATCTCTATCTTCTGTTCTCTGAAGATGACTTGCTCTCCCTGGAA

>In-frame_USP48_ENST00000308271_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_261nt
ATGGCCCCGCGGCTGCAGCTGGAGAAGGCGGCCTGGCGCTGGGCGGAGACGGTGCGGCCCGAGGAGGTGTCGCAGGAGCACATCGAGACC
GCTTACCGCATCTGGCTGGAGCCCTGCATTCGCGGCGTGTGCAGGTATCTCTATCTTCTGTTCTCTGAAGATGACTTGCTCTCCCTGGAA

>In-frame_USP48_ENST00000529637_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_261nt
ATGGCCCCGCGGCTGCAGCTGGAGAAGGCGGCCTGGCGCTGGGCGGAGACGGTGCGGCCCGAGGAGGTGTCGCAGGAGCACATCGAGACC
GCTTACCGCATCTGGCTGGAGCCCTGCATTCGCGGCGTGTGCAGGTATCTCTATCTTCTGTTCTCTGAAGATGACTTGCTCTCCCTGGAA

>In-frame_USP48_ENST00000421625_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_261nt
ATGGCCCCGCGGCTGCAGCTGGAGAAGGCGGCCTGGCGCTGGGCGGAGACGGTGCGGCCCGAGGAGGTGTCGCAGGAGCACATCGAGACC
GCTTACCGCATCTGGCTGGAGCCCTGCATTCGCGGCGTGTGCAGGTATCTCTATCTTCTGTTCTCTGAAGATGACTTGCTCTCCCTGGAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_USP48_ENST00000400301_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_2917nt
AACGTCCGCGGGCGCGGGGTGTGTCGGGTGTCGACGGCGGCGCTTTGCGGCCGGTCGTGCGGGTCGGGCGCGGGCGGGCGCGGCGGCAGT
GGCGCGCACAGGTGATTGACTGGCCAGCTGCCTGAAGGAGCGCCAGGTCCTCCTTGCTGGCAGGTGGCGAAGCCCATTGGGGCGGCGGTG
CAGACCGCGGCGGCGGCTGCGGCGGTCTGGCTCGGGAGGCGTTCCTGGGGCCAAGGCCATGGCCCCGCGGCTGCAGCTGGAGAAGGCGGC
CTGGCGCTGGGCGGAGACGGTGCGGCCCGAGGAGGTGTCGCAGGAGCACATCGAGACCGCTTACCGCATCTGGCTGGAGCCCTGCATTCG
CGGCGTGTGCAGGTATCTCTATCTTCTGTTCTCTGAAGATGACTTGCTCTCCCTGGAAGACTGGGTGTTCAACACCGAGGCCCACCCACT
CCCGGTGAACCACTCAGACAGCTCCGGCAGAGCCTGGGGCAGACACTGACCCCATCTCCTGCCGCCGCCCTGGGGCCGCCGCAGGGATGC
CTTGCCTTTTCAGGATTTGAGACTGTTCTCAAAGGGATTGGGAACGAAGGCCCCATCTCGGGCAGACCCCCAGCAGATGTGTCGGACAAG
CAACTTCTTTTCCTCTGTGAGGAGACAAGACTTGGAGACTCAGCGATGTCAGGCCAGGGCCATGGCCACACTGGCCCACACATTCCTTTC
TACAGAGAATTTCTATGAAGCCCACTCACTTGCCATTCCAGGGCCAAAGGACCGGAGGTTTGCATATCCGCCCCTTGTATTTGATTTGCT
TCCTTTTGGTTTCTTGGTTTTTGTTTTTGCTTGATTTTGTCTTTTCTCTACAGTTTAGTTTTGTCACAATTACACATATAGTTTTCAAAA
TCATGCACTTTCTAAAATGGTGTCATCCTGAAAAACAAAACCCAGTGTTTGCACACACACAAAATCTTGACCCCGTTATCTATATTTTAA
ATGCTTTTTGCCCAACACTGACCCTATGTTCAACTTTGTGTCATTTACCTTATAATTTGAGGAGGGGTTTCCCTTTGGGCCTCAGTGTTA
CAAATTACTAGTGCTATTTTCATTATTATTGTAATGGAAAAATCTGTGGACTAGAATAAAAGAGTTTATTGAATAAGAAATATGATTGGG
CTCATTGCACATCAGTGACTCCTAGAAAAACCATTGCAATGTTACCATCAGAAATAATAATCAGCCAGCAGTTGATTTAAGGTATAATTT
AGTAAACGATTCCAACTTCTATTACCTCCCCTGAAATCGGTCCTGATATATTCGAGAAGCATGAGGCCAGCCCTTCAGATGCAGTTGTTT
ATTTATACTCAGGTTTAGATTGGGAAGAGGCCCAGGGAGGAGCAGCAACTTGCCTGAGGTCACACAGCCCAAAAAAGGCAAAGGAGAGTC
TCGCCCCTGCCGTCTCCTGGCCACCCCAGTTGAGTGTCCGTCTGTTCCATCATTCAGCAGATGCTTGGTGAGTGCCTGCAACGGACCAGA
CACTGGGCTAGAGGCCAGGGACACCGCTGAGAGTGAGACAGTCATAAGCCCTGCAGTCAAGGGGTCAAGAGGGGAGAAAGCGATGGTAAG
GGAAACTGACAAGTAAGTGAAGTGACTGCAGGTCATAGGAAATGCTACAAAGGAGATAGATAGACAGCTGAGGACCTACCCTACGGGGTC
AGGGAGGGCCTCTCTGGGCAGGTGACCTTCAAGCCAAGACCCAGAAGATAAAAAGGAGCAGCCGAAAGACTATCTGGCAGAAGAATGAAC
TTCCCATAACCCAGCCCCCTTTCCCACCCTCCCTGATGCCCTCCCTGGGAGGGGGCCTGAAACACTGGGGCTGTTGTGCAGAGCAAGGAG
CTCAGGTCCTAACACTGAAGTGACAGCTCTTCCTCCCCTGACCCTTTTTTTTTTTTGAGACCCAGAGTCTCGTTCAGTCGCCCAGGCTGG
AGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCTTCCCCAGTAGCAGGGTGCG
TCACCACACCCGGCTAATTTTTTGTATTTTTAGTAAAGACGAGGTTTTGCCATGTTGCCTAGGCTGGTCTTGAACTCCTGAGCTCAGGTG
ATCCGCCCACCTCAGCCTCCCAAAGTGCGGGGATTACAGGCATGAGCCACCACACCCAGTCCTTTCCTGGCACATTTGCAGCTTGTCAAC
ACAGCGGAAATCACGGGAGAATGTTGAGCCCTTCCCTGGGCTCAGCTGCTTGCTCTGTTCATAAGCTTTAATAGCCCCCGGGGCTCTGGG
CCAGGTGACCCGGCTTTAAATCCCTGCTGTGTGAACTTAGGCAGGTACCTCCCCTCTCTGGGCTCTTCTTTTCCATCAAGCAGACAGAAA
ACCTCAACCCCACAAGGTTGCTGTGAGAAGAAGTGGGAAGCTGCTGGTTCCCTGGGCACAGGAAGTGCTTGTTCCTTGTTCTGGAGACTC
AAGACATTCCCAGAATCTTCTTAAGCAGAGCTGCTGGGGAGTAGCCCCTGTAGCAAGTACCATGCTCTTGACAGGCAGCATGAGAGCGTG
ACTCCCATGACCCACCTGTGCTCAAAAAAAAAAAAAAAAAAAAGCAAACCAGGAAAACTGACTACACAAACATTGTAGAAAGATTAGAAA
ATAGAAGCAGAAAGAAGACTCATTGGCCATCCCACTCTCTGGGGTGAATACTGTTATATTTTCTTCTAGGCCTTTTTCTATGAATATATA
GAATATAGATTTTGCCACCGTGGTATCCTACTATGCACACTGTTTTCTTATAATCTGCTTTTGCACTTAACTGTACATTGTGAACCTCTT

>In-frame_USP48_ENST00000308271_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_3328nt
GCTCGGGAAAGGGGTTCGGAACCGGTCTAGGCTCAAGTTAAATCTCCCTCTAAAGAGCCAACACTGGTTTCTTTGGCGACTCGGTTTCTA
CTCTAAACAGGTCCCGCTCCACAGTCTGGGCGGGCCTGTGTGTGCGTTGAGTAGCCTCTAGCGTGAAAACTTCATGGTTAAAAGGGAAGT
ACCGGAGGCAAGAAATAGCTTTCGAGGCACTGGTTTGTTAGAGTAGTGGTACGTAGTGCGCCGCCCTGAACGGGGGCTGAGACGCTGCTT
TTCCAGAAGTGCCAGTGAGGACGTGGCAAGACCGCCTCGGACGTACGCTTCCTCTACCTCAGCCCGTCGGGTTAGGGGCGCGGGAGGCGC
AGAGGCTGCTGGGAACGCGCATGCGCTCAGCGCGGCGGGGAGTCCACCTTTAACGTCCGCGGGCGCGGGGTGTGTCGGGTGTCGACGGCG
GCGCTTTGCGGCCGGTCGTGCGGGTCGGGCGCGGGCGGGCGCGGCGGCAGTGGCGCGCACAGGTGATTGACTGGCCAGCTGCCTGAAGGA
GCGCCAGGTCCTCCTTGCTGGCAGGTGGCGAAGCCCATTGGGGCGGCGGTGCAGACCGCGGCGGCGGCTGCGGCGGTCTGGCTCGGGAGG
CGTTCCTGGGGCCAAGGCCATGGCCCCGCGGCTGCAGCTGGAGAAGGCGGCCTGGCGCTGGGCGGAGACGGTGCGGCCCGAGGAGGTGTC
GCAGGAGCACATCGAGACCGCTTACCGCATCTGGCTGGAGCCCTGCATTCGCGGCGTGTGCAGGTATCTCTATCTTCTGTTCTCTGAAGA
TGACTTGCTCTCCCTGGAAGACTGGGTGTTCAACACCGAGGCCCACCCACTCCCGGTGAACCACTCAGACAGCTCCGGCAGAGCCTGGGG
CAGACACTGACCCCATCTCCTGCCGCCGCCCTGGGGCCGCCGCAGGGATGCCTTGCCTTTTCAGGATTTGAGACTGTTCTCAAAGGGATT
GGGAACGAAGGCCCCATCTCGGGCAGACCCCCAGCAGATGTGTCGGACAAGCAACTTCTTTTCCTCTGTGAGGAGACAAGACTTGGAGAC
TCAGCGATGTCAGGCCAGGGCCATGGCCACACTGGCCCACACATTCCTTTCTACAGAGAATTTCTATGAAGCCCACTCACTTGCCATTCC
AGGGCCAAAGGACCGGAGGTTTGCATATCCGCCCCTTGTATTTGATTTGCTTCCTTTTGGTTTCTTGGTTTTTGTTTTTGCTTGATTTTG
TCTTTTCTCTACAGTTTAGTTTTGTCACAATTACACATATAGTTTTCAAAATCATGCACTTTCTAAAATGGTGTCATCCTGAAAAACAAA
ACCCAGTGTTTGCACACACACAAAATCTTGACCCCGTTATCTATATTTTAAATGCTTTTTGCCCAACACTGACCCTATGTTCAACTTTGT
GTCATTTACCTTATAATTTGAGGAGGGGTTTCCCTTTGGGCCTCAGTGTTACAAATTACTAGTGCTATTTTCATTATTATTGTAATGGAA
AAATCTGTGGACTAGAATAAAAGAGTTTATTGAATAAGAAATATGATTGGGCTCATTGCACATCAGTGACTCCTAGAAAAACCATTGCAA
TGTTACCATCAGAAATAATAATCAGCCAGCAGTTGATTTAAGGTATAATTTAGTAAACGATTCCAACTTCTATTACCTCCCCTGAAATCG
GTCCTGATATATTCGAGAAGCATGAGGCCAGCCCTTCAGATGCAGTTGTTTATTTATACTCAGGTTTAGATTGGGAAGAGGCCCAGGGAG
GAGCAGCAACTTGCCTGAGGTCACACAGCCCAAAAAAGGCAAAGGAGAGTCTCGCCCCTGCCGTCTCCTGGCCACCCCAGTTGAGTGTCC
GTCTGTTCCATCATTCAGCAGATGCTTGGTGAGTGCCTGCAACGGACCAGACACTGGGCTAGAGGCCAGGGACACCGCTGAGAGTGAGAC
AGTCATAAGCCCTGCAGTCAAGGGGTCAAGAGGGGAGAAAGCGATGGTAAGGGAAACTGACAAGTAAGTGAAGTGACTGCAGGTCATAGG
AAATGCTACAAAGGAGATAGATAGACAGCTGAGGACCTACCCTACGGGGTCAGGGAGGGCCTCTCTGGGCAGGTGACCTTCAAGCCAAGA
CCCAGAAGATAAAAAGGAGCAGCCGAAAGACTATCTGGCAGAAGAATGAACTTCCCATAACCCAGCCCCCTTTCCCACCCTCCCTGATGC
CCTCCCTGGGAGGGGGCCTGAAACACTGGGGCTGTTGTGCAGAGCAAGGAGCTCAGGTCCTAACACTGAAGTGACAGCTCTTCCTCCCCT
GACCCTTTTTTTTTTTTGAGACCCAGAGTCTCGTTCAGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCACC
TCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCTTCCCCAGTAGCAGGGTGCGTCACCACACCCGGCTAATTTTTTGTATTTTTAGTAAAGA
CGAGGTTTTGCCATGTTGCCTAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCGGGGATTACAG
GCATGAGCCACCACACCCAGTCCTTTCCTGGCACATTTGCAGCTTGTCAACACAGCGGAAATCACGGGAGAATGTTGAGCCCTTCCCTGG
GCTCAGCTGCTTGCTCTGTTCATAAGCTTTAATAGCCCCCGGGGCTCTGGGCCAGGTGACCCGGCTTTAAATCCCTGCTGTGTGAACTTA
GGCAGGTACCTCCCCTCTCTGGGCTCTTCTTTTCCATCAAGCAGACAGAAAACCTCAACCCCACAAGGTTGCTGTGAGAAGAAGTGGGAA
GCTGCTGGTTCCCTGGGCACAGGAAGTGCTTGTTCCTTGTTCTGGAGACTCAAGACATTCCCAGAATCTTCTTAAGCAGAGCTGCTGGGG
AGTAGCCCCTGTAGCAAGTACCATGCTCTTGACAGGCAGCATGAGAGCGTGACTCCCATGACCCACCTGTGCTCAAAAAAAAAAAAAAAA
AAAAGCAAACCAGGAAAACTGACTACACAAACATTGTAGAAAGATTAGAAAATAGAAGCAGAAAGAAGACTCATTGGCCATCCCACTCTC
TGGGGTGAATACTGTTATATTTTCTTCTAGGCCTTTTTCTATGAATATATAGAATATAGATTTTGCCACCGTGGTATCCTACTATGCACA

>In-frame_USP48_ENST00000529637_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_2713nt
GTCTGGCTCGGGAGGCGTTCCTGGGGCCAAGGCCATGGCCCCGCGGCTGCAGCTGGAGAAGGCGGCCTGGCGCTGGGCGGAGACGGTGCG
GCCCGAGGAGGTGTCGCAGGAGCACATCGAGACCGCTTACCGCATCTGGCTGGAGCCCTGCATTCGCGGCGTGTGCAGGTATCTCTATCT
TCTGTTCTCTGAAGATGACTTGCTCTCCCTGGAAGACTGGGTGTTCAACACCGAGGCCCACCCACTCCCGGTGAACCACTCAGACAGCTC
CGGCAGAGCCTGGGGCAGACACTGACCCCATCTCCTGCCGCCGCCCTGGGGCCGCCGCAGGGATGCCTTGCCTTTTCAGGATTTGAGACT
GTTCTCAAAGGGATTGGGAACGAAGGCCCCATCTCGGGCAGACCCCCAGCAGATGTGTCGGACAAGCAACTTCTTTTCCTCTGTGAGGAG
ACAAGACTTGGAGACTCAGCGATGTCAGGCCAGGGCCATGGCCACACTGGCCCACACATTCCTTTCTACAGAGAATTTCTATGAAGCCCA
CTCACTTGCCATTCCAGGGCCAAAGGACCGGAGGTTTGCATATCCGCCCCTTGTATTTGATTTGCTTCCTTTTGGTTTCTTGGTTTTTGT
TTTTGCTTGATTTTGTCTTTTCTCTACAGTTTAGTTTTGTCACAATTACACATATAGTTTTCAAAATCATGCACTTTCTAAAATGGTGTC
ATCCTGAAAAACAAAACCCAGTGTTTGCACACACACAAAATCTTGACCCCGTTATCTATATTTTAAATGCTTTTTGCCCAACACTGACCC
TATGTTCAACTTTGTGTCATTTACCTTATAATTTGAGGAGGGGTTTCCCTTTGGGCCTCAGTGTTACAAATTACTAGTGCTATTTTCATT
ATTATTGTAATGGAAAAATCTGTGGACTAGAATAAAAGAGTTTATTGAATAAGAAATATGATTGGGCTCATTGCACATCAGTGACTCCTA
GAAAAACCATTGCAATGTTACCATCAGAAATAATAATCAGCCAGCAGTTGATTTAAGGTATAATTTAGTAAACGATTCCAACTTCTATTA
CCTCCCCTGAAATCGGTCCTGATATATTCGAGAAGCATGAGGCCAGCCCTTCAGATGCAGTTGTTTATTTATACTCAGGTTTAGATTGGG
AAGAGGCCCAGGGAGGAGCAGCAACTTGCCTGAGGTCACACAGCCCAAAAAAGGCAAAGGAGAGTCTCGCCCCTGCCGTCTCCTGGCCAC
CCCAGTTGAGTGTCCGTCTGTTCCATCATTCAGCAGATGCTTGGTGAGTGCCTGCAACGGACCAGACACTGGGCTAGAGGCCAGGGACAC
CGCTGAGAGTGAGACAGTCATAAGCCCTGCAGTCAAGGGGTCAAGAGGGGAGAAAGCGATGGTAAGGGAAACTGACAAGTAAGTGAAGTG
ACTGCAGGTCATAGGAAATGCTACAAAGGAGATAGATAGACAGCTGAGGACCTACCCTACGGGGTCAGGGAGGGCCTCTCTGGGCAGGTG
ACCTTCAAGCCAAGACCCAGAAGATAAAAAGGAGCAGCCGAAAGACTATCTGGCAGAAGAATGAACTTCCCATAACCCAGCCCCCTTTCC
CACCCTCCCTGATGCCCTCCCTGGGAGGGGGCCTGAAACACTGGGGCTGTTGTGCAGAGCAAGGAGCTCAGGTCCTAACACTGAAGTGAC
AGCTCTTCCTCCCCTGACCCTTTTTTTTTTTTGAGACCCAGAGTCTCGTTCAGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTC
ACTGCAACCTCCACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCTTCCCCAGTAGCAGGGTGCGTCACCACACCCGGCTAATTTTTTG
TATTTTTAGTAAAGACGAGGTTTTGCCATGTTGCCTAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCCGCCCACCTCAGCCTCCCAAA
GTGCGGGGATTACAGGCATGAGCCACCACACCCAGTCCTTTCCTGGCACATTTGCAGCTTGTCAACACAGCGGAAATCACGGGAGAATGT
TGAGCCCTTCCCTGGGCTCAGCTGCTTGCTCTGTTCATAAGCTTTAATAGCCCCCGGGGCTCTGGGCCAGGTGACCCGGCTTTAAATCCC
TGCTGTGTGAACTTAGGCAGGTACCTCCCCTCTCTGGGCTCTTCTTTTCCATCAAGCAGACAGAAAACCTCAACCCCACAAGGTTGCTGT
GAGAAGAAGTGGGAAGCTGCTGGTTCCCTGGGCACAGGAAGTGCTTGTTCCTTGTTCTGGAGACTCAAGACATTCCCAGAATCTTCTTAA
GCAGAGCTGCTGGGGAGTAGCCCCTGTAGCAAGTACCATGCTCTTGACAGGCAGCATGAGAGCGTGACTCCCATGACCCACCTGTGCTCA
AAAAAAAAAAAAAAAAAAAGCAAACCAGGAAAACTGACTACACAAACATTGTAGAAAGATTAGAAAATAGAAGCAGAAAGAAGACTCATT
GGCCATCCCACTCTCTGGGGTGAATACTGTTATATTTTCTTCTAGGCCTTTTTCTATGAATATATAGAATATAGATTTTGCCACCGTGGT
ATCCTACTATGCACACTGTTTTCTTATAATCTGCTTTTGCACTTAACTGTACATTGTGAACCTCTTTCCATGTCAACAAATACATGTTTA

>In-frame_USP48_ENST00000421625_chr1_22109317_-_MAN1C1_ENST00000374332_chr1_26110154_+_3328nt
GCTCGGGAAAGGGGTTCGGAACCGGTCTAGGCTCAAGTTAAATCTCCCTCTAAAGAGCCAACACTGGTTTCTTTGGCGACTCGGTTTCTA
CTCTAAACAGGTCCCGCTCCACAGTCTGGGCGGGCCTGTGTGTGCGTTGAGTAGCCTCTAGCGTGAAAACTTCATGGTTAAAAGGGAAGT
ACCGGAGGCAAGAAATAGCTTTCGAGGCACTGGTTTGTTAGAGTAGTGGTACGTAGTGCGCCGCCCTGAACGGGGGCTGAGACGCTGCTT
TTCCAGAAGTGCCAGTGAGGACGTGGCAAGACCGCCTCGGACGTACGCTTCCTCTACCTCAGCCCGTCGGGTTAGGGGCGCGGGAGGCGC
AGAGGCTGCTGGGAACGCGCATGCGCTCAGCGCGGCGGGGAGTCCACCTTTAACGTCCGCGGGCGCGGGGTGTGTCGGGTGTCGACGGCG
GCGCTTTGCGGCCGGTCGTGCGGGTCGGGCGCGGGCGGGCGCGGCGGCAGTGGCGCGCACAGGTGATTGACTGGCCAGCTGCCTGAAGGA
GCGCCAGGTCCTCCTTGCTGGCAGGTGGCGAAGCCCATTGGGGCGGCGGTGCAGACCGCGGCGGCGGCTGCGGCGGTCTGGCTCGGGAGG
CGTTCCTGGGGCCAAGGCCATGGCCCCGCGGCTGCAGCTGGAGAAGGCGGCCTGGCGCTGGGCGGAGACGGTGCGGCCCGAGGAGGTGTC
GCAGGAGCACATCGAGACCGCTTACCGCATCTGGCTGGAGCCCTGCATTCGCGGCGTGTGCAGGTATCTCTATCTTCTGTTCTCTGAAGA
TGACTTGCTCTCCCTGGAAGACTGGGTGTTCAACACCGAGGCCCACCCACTCCCGGTGAACCACTCAGACAGCTCCGGCAGAGCCTGGGG
CAGACACTGACCCCATCTCCTGCCGCCGCCCTGGGGCCGCCGCAGGGATGCCTTGCCTTTTCAGGATTTGAGACTGTTCTCAAAGGGATT
GGGAACGAAGGCCCCATCTCGGGCAGACCCCCAGCAGATGTGTCGGACAAGCAACTTCTTTTCCTCTGTGAGGAGACAAGACTTGGAGAC
TCAGCGATGTCAGGCCAGGGCCATGGCCACACTGGCCCACACATTCCTTTCTACAGAGAATTTCTATGAAGCCCACTCACTTGCCATTCC
AGGGCCAAAGGACCGGAGGTTTGCATATCCGCCCCTTGTATTTGATTTGCTTCCTTTTGGTTTCTTGGTTTTTGTTTTTGCTTGATTTTG
TCTTTTCTCTACAGTTTAGTTTTGTCACAATTACACATATAGTTTTCAAAATCATGCACTTTCTAAAATGGTGTCATCCTGAAAAACAAA
ACCCAGTGTTTGCACACACACAAAATCTTGACCCCGTTATCTATATTTTAAATGCTTTTTGCCCAACACTGACCCTATGTTCAACTTTGT
GTCATTTACCTTATAATTTGAGGAGGGGTTTCCCTTTGGGCCTCAGTGTTACAAATTACTAGTGCTATTTTCATTATTATTGTAATGGAA
AAATCTGTGGACTAGAATAAAAGAGTTTATTGAATAAGAAATATGATTGGGCTCATTGCACATCAGTGACTCCTAGAAAAACCATTGCAA
TGTTACCATCAGAAATAATAATCAGCCAGCAGTTGATTTAAGGTATAATTTAGTAAACGATTCCAACTTCTATTACCTCCCCTGAAATCG
GTCCTGATATATTCGAGAAGCATGAGGCCAGCCCTTCAGATGCAGTTGTTTATTTATACTCAGGTTTAGATTGGGAAGAGGCCCAGGGAG
GAGCAGCAACTTGCCTGAGGTCACACAGCCCAAAAAAGGCAAAGGAGAGTCTCGCCCCTGCCGTCTCCTGGCCACCCCAGTTGAGTGTCC
GTCTGTTCCATCATTCAGCAGATGCTTGGTGAGTGCCTGCAACGGACCAGACACTGGGCTAGAGGCCAGGGACACCGCTGAGAGTGAGAC
AGTCATAAGCCCTGCAGTCAAGGGGTCAAGAGGGGAGAAAGCGATGGTAAGGGAAACTGACAAGTAAGTGAAGTGACTGCAGGTCATAGG
AAATGCTACAAAGGAGATAGATAGACAGCTGAGGACCTACCCTACGGGGTCAGGGAGGGCCTCTCTGGGCAGGTGACCTTCAAGCCAAGA
CCCAGAAGATAAAAAGGAGCAGCCGAAAGACTATCTGGCAGAAGAATGAACTTCCCATAACCCAGCCCCCTTTCCCACCCTCCCTGATGC
CCTCCCTGGGAGGGGGCCTGAAACACTGGGGCTGTTGTGCAGAGCAAGGAGCTCAGGTCCTAACACTGAAGTGACAGCTCTTCCTCCCCT
GACCCTTTTTTTTTTTTGAGACCCAGAGTCTCGTTCAGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCACC
TCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCTTCCCCAGTAGCAGGGTGCGTCACCACACCCGGCTAATTTTTTGTATTTTTAGTAAAGA
CGAGGTTTTGCCATGTTGCCTAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCGGGGATTACAG
GCATGAGCCACCACACCCAGTCCTTTCCTGGCACATTTGCAGCTTGTCAACACAGCGGAAATCACGGGAGAATGTTGAGCCCTTCCCTGG
GCTCAGCTGCTTGCTCTGTTCATAAGCTTTAATAGCCCCCGGGGCTCTGGGCCAGGTGACCCGGCTTTAAATCCCTGCTGTGTGAACTTA
GGCAGGTACCTCCCCTCTCTGGGCTCTTCTTTTCCATCAAGCAGACAGAAAACCTCAACCCCACAAGGTTGCTGTGAGAAGAAGTGGGAA
GCTGCTGGTTCCCTGGGCACAGGAAGTGCTTGTTCCTTGTTCTGGAGACTCAAGACATTCCCAGAATCTTCTTAAGCAGAGCTGCTGGGG
AGTAGCCCCTGTAGCAAGTACCATGCTCTTGACAGGCAGCATGAGAGCGTGACTCCCATGACCCACCTGTGCTCAAAAAAAAAAAAAAAA
AAAAGCAAACCAGGAAAACTGACTACACAAACATTGTAGAAAGATTAGAAAATAGAAGCAGAAAGAAGACTCATTGGCCATCCCACTCTC
TGGGGTGAATACTGTTATATTTTCTTCTAGGCCTTTTTCTATGAATATATAGAATATAGATTTTGCCACCGTGGTATCCTACTATGCACA


Top

FusionGenePPI for USP48_MAN1C1


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
USP48USP21, EEF1B2P5, APP, UCHL3, ZC3HAV1, ZFR, UBA6, UACA, VPS35, UBC, PSAP, SEC24D, BRAT1, DRD3, SLC9A3, SIRT6, GPS1, CSNK2A1, DYNC1LI1, NCBP2, NUP188, NTRK1, HIST1H2BG, HIST1H3A, SNW1, NDUFAF7, NR1D2, RNF123, UBB, HIST1H2BJ, PXK, UBAC1, ZNF232MAN1C1SMAD9


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

RelatedDrugs for USP48_MAN1C1


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

Top

RelatedDiseases for USP48_MAN1C1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUSP48C0236733Amphetamine-Related Disorders1CTD_human