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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:USP6NL-FAM172A (FusionGDB2 ID:96942)

Fusion Gene Summary for USP6NL-FAM172A

check button Fusion gene summary
Fusion gene informationFusion gene name: USP6NL-FAM172A
Fusion gene ID: 96942
HgeneTgene
Gene symbol

USP6NL

FAM172A

Gene ID

9712

83989

Gene nameUSP6 N-terminal likefamily with sequence similarity 172 member A
SynonymsRNTRE|TRE2NL|USP6NL-IT1C5orf21|Toupee
Cytomap

10p14

5q15

Type of geneprotein-codingprotein-coding
DescriptionUSP6 N-terminal-like proteinrelated to the N-terminus of trecotranscriptional regulator FAM172Aprotein FAM172A
Modification date2020031320200313
UniProtAcc.

Q8WUF8

Ensembl transtripts involved in fusion geneENST00000609104, ENST00000277575, 
ENST00000379237, ENST00000443016, 
ENST00000609853, 
ENST00000395965, 
ENST00000505869, ENST00000509739, 
ENST00000509163, ENST00000504768, 
Fusion gene scores* DoF score23 X 16 X 11=404811 X 14 X 6=924
# samples 3023
** MAII scorelog2(30/4048*10)=-3.75417488419843
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(23/924*10)=-2.00625899047168
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: USP6NL [Title/Abstract] AND FAM172A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUSP6NL(11639630)-FAM172A(93388932), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneUSP6NL

GO:0043547

positive regulation of GTPase activity

17562788


check buttonFusion gene breakpoints across USP6NL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across FAM172A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-HU-A4GY-01AUSP6NLchr10

11639630

-FAM172Achr5

93388932

-


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Fusion Gene ORF analysis for USP6NL-FAM172A

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-frameENST00000609104ENST00000395965USP6NLchr10

11639630

-FAM172Achr5

93388932

-
5CDS-5UTRENST00000609104ENST00000505869USP6NLchr10

11639630

-FAM172Achr5

93388932

-
5CDS-5UTRENST00000609104ENST00000509739USP6NLchr10

11639630

-FAM172Achr5

93388932

-
5CDS-5UTRENST00000609104ENST00000509163USP6NLchr10

11639630

-FAM172Achr5

93388932

-
5CDS-5UTRENST00000609104ENST00000504768USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-3CDSENST00000277575ENST00000395965USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000277575ENST00000505869USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000277575ENST00000509739USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000277575ENST00000509163USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000277575ENST00000504768USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-3CDSENST00000379237ENST00000395965USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000379237ENST00000505869USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000379237ENST00000509739USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000379237ENST00000509163USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000379237ENST00000504768USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-3CDSENST00000443016ENST00000395965USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000443016ENST00000505869USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000443016ENST00000509739USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000443016ENST00000509163USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000443016ENST00000504768USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-3CDSENST00000609853ENST00000395965USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000609853ENST00000505869USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000609853ENST00000509739USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000609853ENST00000509163USP6NLchr10

11639630

-FAM172Achr5

93388932

-
intron-5UTRENST00000609853ENST00000504768USP6NLchr10

11639630

-FAM172Achr5

93388932

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000609104USP6NLchr1011639630-ENST00000395965FAM172Achr593388932-44623993651543392

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000609104ENST00000395965USP6NLchr1011639630-FAM172Achr593388932-0.0003629840.999637

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Fusion Genomic Features for USP6NL-FAM172A


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

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

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

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Fusion Protein Features for USP6NL-FAM172A


check button Go to

FGviewer for the breakpoints of chr10:11639630-chr5:93388932

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.FAM172A

Q8WUF8

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity. {ECO:0000250|UniProtKB:Q3TNH5}.

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
TgeneFAM172Achr10:11639630chr5:93388932ENST00000395965111413_41635.333333333333336417.0MotifPrevents secretion from ER
TgeneFAM172Achr10:11639630chr5:93388932ENST0000050586909413_4160307.0MotifPrevents secretion from ER
TgeneFAM172Achr10:11639630chr5:93388932ENST00000509163010413_4160371.0MotifPrevents secretion from ER

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUSP6NLchr10:11639630chr5:93388932ENST00000277575-114100_2920846.0DomainRab-GAP TBC
HgeneUSP6NLchr10:11639630chr5:93388932ENST00000379237-114100_2920852.0DomainRab-GAP TBC


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Fusion Gene Sequence for USP6NL-FAM172A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000609104_ENST00000395965_TCGA-HU-A4GY-01A_USP6NL_chr10_11639630_-_FAM172A_chr5_93388932_length(transcript)=4462nt_BP=399nt
CGGCCGCTGCGGTGACGGTTGGCGGCGGCCGGTGAGGCGGGCGGGGCCGGAGGCGCGGAGGCGGGGTCCCGGGCGAGCCGCCCTGGGAGG
CGGGGGCCGTTTCCATAGCGGCGGCAGGAGGTGTCGCGCCGGGGAACTTCCTGGTTCCCGGGCTCGGCTTCGCCGGGATCCTCTTGGAAG
GGAAACAATGGGGCGGAGGGCACTGCGGTAGCCGCCGCCGCCGCCGCGCCGCGCCGCGCCGGATCTGCTCGGCCGCCCGGGACCGCCAGC
TCTGTCCGCTGCCCACAGCCTAGCAGTCGGGACCGTACTGAGGACATGTATTCCTCTGAGAAACCTTGGACAGCAGATTTTGGTTTAATA
TCTGATTGGGACAACATTCAGACCCATTTCCAGTCATGAATTTATTATCTAGGATAGATTTGGATGAACTAATGAAAAAAGATGAACCGC
CTCTTGATTTTCCTGATACCCTGGAAGGATTTGAATATGCTTTTAATGAAAAGGGACAGTTAAGACACATAAAAACTGGGGAACCATTTG
TTTTTAACTACCGGGAAGATTTACACAGATGGAACCAGAAAAGATACGAGGCTCTAGGAGAGATCATCACGAAGTATGTATATGAGCTCC
TGGAAAAGGATTGTAATTTGAAAAAAGTATCTATTCCAGTAGATGCCACTGAGAGTGAACCAAAGAGTTTTATCTTTATGAGTGAGGATG
CTTTGACAAATCCACAGAAACTGATGGTTTTAATTCATGGTAGTGGTGTTGTCAGGGCAGGGCAGTGGGCTAGAAGACTTATTATAAATG
AAGATCTGGACAGTGGCACACAGATACCGTTTATTAAAAGAGCTGTGGCTGAAGGATATGGAGTAATAGTACTAAATCCCAATGAAAACT
ATATTGAAGTAGAAAAGCCGAAGATACACGTACAGTCATCATCTGATAGTTCAGATGAACCAGCAGAAAAACGGGAAAGAAAAGATAAAG
TTTCTAAAGAAACAAAGAAGCGACGTGATTTCTATGAGAAGTATCGTAACCCCCAAAGAGAAAAAGAAATGATGCAATTGTATATCAGAG
AAAATGGTTCTCCTGAAGAACATGCAATCTATGTTTGGGATCATTTCATAGCTCAGGCTGCTGCTGAGAATGTGTTTTTCGTTGCTCACA
GCTATGGAGGACTTGCTTTTGTTGAACTGATGATTCAACGAGAAGCCGATGTAAAAAATAAGGTAACTGCTGTGGCATTGACAGACTCTG
TTCACAATGTGTGGCATCAAGAAGCTGGCAAAACGATTCGAGAATGGATGAGAGAGAACTGTTGTAATTGGGTCTCTAGCTCAGAACCAT
TAGACACATCAGTGGAGTCCATGCTACCTGATTGCCCCCGGGTCTCAGCAGGCACCGACCGTCACGAGCTAACTTCCTGGAAGAGCTTTC
CGTCTATTTTCAAATTCTTTACCGAAGCCTCAGAGGCCAAGACCAGCTCCCTGAAGCCGGCTGTGACGCGCCGCTCCCACCGCATCAAGC
ACGAAGAGCTGTAAGAGGAGCGAGCGCGACGGGGGAGGCCGCCCTGGCGCACCCACCCGCACGCCTCCTCACTGCTTGTGTCGAGCGGAC
TCCCAGCCCCTCATTAGATTGTTTTCTTCCCAGAGCCCAGGGTCGTGATATATACATCTAAATAGCGTTTTGCATTATTTCTAGATGAGT
GCAACTGTCAAAGCAATATGGGTTCACTGGTCGTGCTTCCTGCGGGCTGAGCGCGGGCTGAGCGCTGCCAGTCAGCGCTCACATTAAGGC
TGACAGCGCCCTGCCTGGCTCGGCCGGCGAAGCTCTAATTGCCCTGAAGGAGACCGCGCGGGCGCTGCGGGTCCGGCGGCGTCGGCGCGG
TCCTAGCGCCCGCCGTAGCGGAGCCGCTGCTGCTTCCCCCTCCTTAATCATGTCCATCTTTCCCCGCTCTCAACTGGAGCAAACTTCTAT
TCCAGACTTCAGATTTCCATTTTCACTAGGTTTTTCCCTGAGGGCATCTTATTACCCACCTCTTTTTTTTTTTTTTTAAGGAAGTTCCAC
ACACACTCCAAAGCCGATTTCAAATTCAGAACCTGAATGCCATGATGTACCATGTAGTTTGGGGAATGCAAATTGTTCTCTCCCTGTTTT
CATTTCGGGACCAGAAAAAAAAACAACTCTGCATAAAAATCTATAAAGTACTGAATCCGCATTACTGCTGAAAATCCTTTTGCCAGCTAA
TTGTGAGAGTTTACACAAGTCTCTGATTTCAGAAGAGACTGTTAAAACCAAAACAATGATGGGCAGCTCTTTTAAGTGTAGGTGTGAAGG
TCCCATTTTCAATGGAATTTCCAACTGTTATCACTGGGATTGACTTTACTTTTTAAACACATAATGTGTACTGTGTGGCATTGTAATTTA
GATATAACACACTTAAGTTTTGCTTTTTAAATCTCTCTGTGGAGAAAGGTTGTTGTTAATCCTTTCCAGAATGATCTATTCTGAGCTTTC
CTGGAGTTAGGCCCTTCTAGGGAGAGAATTTTTTTATTGTCATCAGGAAACGAAACCTTTGTGCTCTGCAGCCTTTTTCTTCTGAAAGGC
TAAGTGGGGCTAAAATTATCCTTTTAGTTTTCTGCTTTAACAAGAAGAGAAGGACTTGGTGTGAAAGAATTTCTTCTCTCAGTCCAATGG
TATAATTTTTAGCACTCCGCTTCCTCTGTAGGGTTTAGCCCTACAGTTTGAACAATTATTTTAATCCAGCTAAGATGTGGCCAACACTGT
GAAATACAGGAGATGTTAAGGTTTTGCTGACTTTTAGATTAAAATCTTAAAATTTCACATTATATTTTAATTACTTGAAAAGTTTAATTA
CCTAGTAAAGATTGTTTCTAATAGATGAGAACATAAATTTAATAGTTTTCATCCTTTTTTAAAGTGTGTGCAACAATTAATATGCCTGCC
TTATTTGAGGACATGATAAAATGTACCCAAAATGACTTCGAACTGTCTAATGCCTCAGAAAAGTAACTTAAAATCAACCACTTCGTGCTT
AAATGTTTTTATATTATGAACCGATTTCAACAAGTTTTAAAGCTGTTAATATCTCATTGCTGTGTTTGACATACAAGTACATTCATTGGT
TCTATAGTCTTAATGATGACAAATTAAAGATGTTTTTTCAGTGCTCAGGTATGCATATATTTTCGTGTTACTTAAGCAAAATCAACTATA
TAGGAGGAAAAATCAAAATGGCATTTTATTCAGCTACCAGATGGCTTAAAATGAGTAAACCCCAACAACATCAAGCACATTTGTCTGTGA
TATTGACCCTTTTTATCCAATCATTACTATTTTAGAAGTAGTGGTGAACTGTGTAAAATAATGGTATCTTCAGCAGTGTTCCGGAATCTT
AGTTGAGGGACAAACATTCCTTCCAGTGAGAGATTCAAGAATTGATGTGAATTGAATATATTTTTCAAGGTATTATAAATTGTGTTGTGT
TTTCAGTATAAGAAAATGTTGACAGGAAACAATTTTATAGCATTTATAAAAAACCAACACTTGTGCAATGCTAAATTGGCGAAGCTTCTG
CACCTGAATTAGAGCACAATAAATATGCTGTTTATAAACCAAATCACTGCTATTCCTTCTCTGAAATCATCTCTCCTCTTTTTAAACCTT
TACTTATAGCTAGAATAAATCACTATTTAATTGCCTCTAATACTTTAAAACTACTGGATGGTTAGGCCTGGTTTAACTATTTATGGAGAG
CTATTTGCAAACTTAAGTTGTGTAAATGTAATTTCTACTTGTGAATCTGAGCTGTAGCAGCCCAGAGGGAGCTAGGCAAACTATTCCAGA
CCACCAACTGATAAGTGATCAGATTCTTTGTAATGTAGGATTTTTTAACCTGTTGATTATGGGTTTGTTGATATAAATGTAATAATGTTC
ACCTCGATTTTCCTGGAGTAACAACCAGCGTTGGTAGTAGCCCACCTGCATGAGGACGGCCAGTGTTAACAATATTTTTGTTCTGATCTT
CTTCCCCATTTTTGTTTCCTCAAACAGGTTTTTAGGAGAGTGGAGATTTAAAGTCAGGATGTGGCCTTTTTATTTTAATTATATACTTAA
TTCTTAGAACAAGTAGAATGGGAAAGGAGTGACTGATAAATCTAAGATTCAAAATAGTCCCGTCGAAACTTAAAGGCCAGATTATTGCTT
TGGAGCTTTCTATAGGTACTAGCCATCCCGTCGTTAAATGTTTTCATGGATATTTGAAAAGAAGACCATGTACCTTTAATAACTGTTCTT
TTCTCGAGTTTCTGCCTCGTGCTTTGACCTGGATTGCATTATTATTGTTTATGCGAAGTAAAAAAAAAAAAGGAAAGCACAAGCTTTTCC

>In-frame_ENST00000609104_ENST00000395965_TCGA-HU-A4GY-01A_USP6NL_chr10_11639630_-_FAM172A_chr5_93388932_length(amino acids)=392AA_start in transcript=365_stop in transcript=1543
MGQHSDPFPVMNLLSRIDLDELMKKDEPPLDFPDTLEGFEYAFNEKGQLRHIKTGEPFVFNYREDLHRWNQKRYEALGEIITKYVYELLE
KDCNLKKVSIPVDATESEPKSFIFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGTQIPFIKRAVAEGYGVIVLNPNENYI
EVEKPKIHVQSSSDSSDEPAEKRERKDKVSKETKKRRDFYEKYRNPQREKEMMQLYIRENGSPEEHAIYVWDHFIAQAAAENVFFVAHSY
GGLAFVELMIQREADVKNKVTAVALTDSVHNVWHQEAGKTIREWMRENCCNWVSSSEPLDTSVESMLPDCPRVSAGTDRHELTSWKSFPS

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

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Fusion Gene PPI Analysis for USP6NL-FAM172A


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


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


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


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


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Related Drugs for USP6NL-FAM172A


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

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Related Diseases for USP6NL-FAM172A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUSP6NLC0025202melanoma1CTD_human