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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:LAMC2-CCDC53 (FusionGDB2 ID:43726)

Fusion Gene Summary for LAMC2-CCDC53

check button Fusion gene summary
Fusion gene informationFusion gene name: LAMC2-CCDC53
Fusion gene ID: 43726
HgeneTgene
Gene symbol

LAMC2

CCDC53

Gene ID

3918

51019

Gene namelaminin subunit gamma 2WASH complex subunit 3
SynonymsB2T|BM600|CSF|EBR2|EBR2A|LAMB2T|LAMNB2CCDC53|CGI-116
Cytomap

1q25.3

12q23.2

Type of geneprotein-codingprotein-coding
Descriptionlaminin subunit gamma-2BM600-100kDaCSF 140 kDa subunitcell-scattering factor 140 kDa subunitepiligrin subunit gammakalinin subunit gammaladsin 140 kDa subunitlaminin B2t chainlaminin, gamma 2large adhesive scatter factor 140 kDa subunitnicein suWASH complex subunit 3WASH complex subunit CCDC53coiled-coil domain containing 53coiled-coil domain-containing protein 53
Modification date2020031520200327
UniProtAcc

Q13753

.
Ensembl transtripts involved in fusion geneENST00000493293, ENST00000264144, 
ENST00000461729, 		ENST00000240079, 
ENST00000545679, ENST00000539515, 
Fusion gene scores* DoF score9 X 9 X 6=4866 X 3 X 6=108
# samples 96
** MAII scorelog2(9/486*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LAMC2 [Title/Abstract] AND CCDC53 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLAMC2(183200238)-CCDC53(102439897), # samples:3
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

check buttonFusion gene breakpoints across LAMC2 (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 CCDC53 (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
ChimerDB4HNSCTCGA-HD-7753LAMC2chr1

183200238

+CCDC53chr12

102439897

-
ChimerDB4HNSCTCGA-HD-7753LAMC2chr1

183200238

+CCDC53chr12

102439897

-
ChimerDB4HNSCTCGA-HD-7753LAMC2chr1

183200238

+CCDC53chr12

102439897

-


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Fusion Gene ORF analysis for LAMC2-CCDC53

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-frameENST00000493293ENST00000240079LAMC2chr1

183200238

+CCDC53chr12

102439897

-
In-frameENST00000493293ENST00000545679LAMC2chr1

183200238

+CCDC53chr12

102439897

-
5CDS-5UTRENST00000493293ENST00000539515LAMC2chr1

183200238

+CCDC53chr12

102439897

-
In-frameENST00000264144ENST00000240079LAMC2chr1

183200238

+CCDC53chr12

102439897

-
In-frameENST00000264144ENST00000545679LAMC2chr1

183200238

+CCDC53chr12

102439897

-
5CDS-5UTRENST00000264144ENST00000539515LAMC2chr1

183200238

+CCDC53chr12

102439897

-
intron-3CDSENST00000461729ENST00000240079LAMC2chr1

183200238

+CCDC53chr12

102439897

-
intron-3CDSENST00000461729ENST00000545679LAMC2chr1

183200238

+CCDC53chr12

102439897

-
intron-5UTRENST00000461729ENST00000539515LAMC2chr1

183200238

+CCDC53chr12

102439897

-

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)
ENST00000493293LAMC2chr1183200238+ENST00000240079CCDC53chr12102439897-257619721152406763
ENST00000493293LAMC2chr1183200238+ENST00000545679CCDC53chr12102439897-257019721152403762
ENST00000264144LAMC2chr1183200238+ENST00000240079CCDC53chr12102439897-25261922652356763
ENST00000264144LAMC2chr1183200238+ENST00000545679CCDC53chr12102439897-25201922652353762

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
ENST00000493293ENST00000240079LAMC2chr1183200238+CCDC53chr12102439897-0.0011772890.99882275
ENST00000493293ENST00000545679LAMC2chr1183200238+CCDC53chr12102439897-0.0011682290.9988318
ENST00000264144ENST00000240079LAMC2chr1183200238+CCDC53chr12102439897-0.0011497880.9988502
ENST00000264144ENST00000545679LAMC2chr1183200238+CCDC53chr12102439897-0.0011392010.99886084

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Fusion Genomic Features for LAMC2-CCDC53


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 LAMC2-CCDC53


check button Go to

FGviewer for the breakpoints of chr1:183200238-chr12:102439897

.
- 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
LAMC2

Q13753

.
FUNCTION: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells. {ECO:0000269|PubMed:8265624}.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.

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
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223139_186619.01194.0DomainLaminin EGF-like 3
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223187_196619.01194.0DomainLaminin EGF-like 4%3B first part
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223213_381619.01194.0DomainLaminin IV type A
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+122328_83619.01194.0DomainLaminin EGF-like 1
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223382_415619.01194.0DomainLaminin EGF-like 4%3B second part
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223416_461619.01194.0DomainLaminin EGF-like 5
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223462_516619.01194.0DomainLaminin EGF-like 6
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223517_572619.01194.0DomainLaminin EGF-like 7
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223573_602619.01194.0DomainLaminin EGF-like 8%3B truncated
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+122384_130619.01194.0DomainLaminin EGF-like 2
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222139_186619.01112.0DomainLaminin EGF-like 3
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222187_196619.01112.0DomainLaminin EGF-like 4%3B first part
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222213_381619.01112.0DomainLaminin IV type A
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+122228_83619.01112.0DomainLaminin EGF-like 1
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222382_415619.01112.0DomainLaminin EGF-like 4%3B second part
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222416_461619.01112.0DomainLaminin EGF-like 5
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222462_516619.01112.0DomainLaminin EGF-like 6
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222517_572619.01112.0DomainLaminin EGF-like 7
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222573_602619.01112.0DomainLaminin EGF-like 8%3B truncated
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+122284_130619.01112.0DomainLaminin EGF-like 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+12231117_1193619.01194.0Coiled coilOntology_term=ECO:0000255
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223611_718619.01194.0Coiled coilOntology_term=ECO:0000255
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223811_1076619.01194.0Coiled coilOntology_term=ECO:0000255
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+12221117_1193619.01112.0Coiled coilOntology_term=ECO:0000255
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222611_718619.01112.0Coiled coilOntology_term=ECO:0000255
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222811_1076619.01112.0Coiled coilOntology_term=ECO:0000255
HgeneLAMC2chr1:183200238chr12:102439897ENST00000264144+1223603_1193619.01194.0RegionNote=Domain II and I
HgeneLAMC2chr1:183200238chr12:102439897ENST00000493293+1222603_1193619.01112.0RegionNote=Domain II and I
TgeneCCDC53chr1:183200238chr12:102439897ENST000002400791746_7450.0195.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for LAMC2-CCDC53


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_ENST00000493293_ENST00000240079_TCGA-HD-7753_LAMC2_chr1_183200238_+_CCDC53_chr12_102439897_length(transcript)=2576nt_BP=1972nt
ACCACCTGATCAAGGAAAAGGAAGGCACAGCGGAGCGCAGAGTGAGAACCACCAACCGAGGCGCCGGGCAGCGACCCCTGCAGCGGAGAC
AGAGACTGAGCGGCCCGGCCCCGCCATGCCTGCGCTCTGGCTGGGCTGCTGCCTCTGCTTCTCGCTCCTCCTGCCCGCAGCCCGGGCCAC
CTCCAGGAGGGAAGTCTGTGATTGCAATGGGAAGTCCAGGCAGTGTATCTTTGATCGGGAACTTCACAGACAAACTGGTAATGGATTCCG
CTGCCTCAACTGCAATGACAACACTGATGGCATTCACTGCGAGAAGTGCAAGAATGGCTTTTACCGGCACAGAGAAAGGGACCGCTGTTT
GCCCTGCAATTGTAACTCCAAAGGTTCTCTTAGTGCTCGATGTGACAACTCCGGACGGTGCAGCTGTAAACCAGGTGTGACAGGAGCCAG
ATGCGACCGATGTCTGCCAGGCTTCCACATGCTCACGGATGCGGGGTGCACCCAAGACCAGAGACTGCTAGACTCCAAGTGTGACTGTGA
CCCAGCTGGCATCGCAGGGCCCTGTGACGCGGGCCGCTGTGTCTGCAAGCCAGCTGTCACTGGAGAACGCTGTGATAGGTGTCGATCAGG
TTACTATAATCTGGATGGGGGGAACCCTGAGGGCTGTACCCAGTGTTTCTGCTATGGGCATTCAGCCAGCTGCCGCAGCTCTGCAGAATA
CAGTGTCCATAAGATCACCTCTACCTTTCATCAAGATGTTGATGGCTGGAAGGCTGTCCAACGAAATGGGTCTCCTGCAAAGCTCCAATG
GTCACAGCGCCATCAAGATGTGTTTAGCTCAGCCCAACGACTAGACCCTGTCTATTTTGTGGCTCCTGCCAAATTTCTTGGGAATCAACA
GGTGAGCTATGGTCAAAGCCTGTCCTTTGACTACCGTGTGGACAGAGGAGGCAGACACCCATCTGCCCATGATGTGATTCTGGAAGGTGC
TGGTCTACGGATCACAGCTCCCTTGATGCCACTTGGCAAGACACTGCCTTGTGGGCTCACCAAGACTTACACATTCAGGTTAAATGAGCA
TCCAAGCAATAATTGGAGCCCCCAGCTGAGTTACTTTGAGTATCGAAGGTTACTGCGGAATCTCACAGCCCTCCGCATCCGAGCTACATA
TGGAGAATACAGTACTGGGTACATTGACAATGTGACCCTGATTTCAGCCCGCCCTGTCTCTGGAGCCCCAGCACCCTGGGTTGAACAGTG
TATATGTCCTGTTGGGTACAAGGGGCAATTCTGCCAGGATTGTGCTTCTGGCTACAAGAGAGATTCAGCGAGACTGGGGCCTTTTGGCAC
CTGTATTCCTTGTAACTGTCAAGGGGGAGGGGCCTGTGATCCAGACACAGGAGATTGTTATTCAGGGGATGAGAATCCTGACATTGAGTG
TGCTGACTGCCCAATTGGTTTCTACAACGATCCGCACGACCCCCGCAGCTGCAAGCCATGTCCCTGTCATAACGGGTTCAGCTGCTCAGT
GATGCCGGAGACGGAGGAGGTGGTGTGCAATAACTGCCCTCCCGGGGTCACCGGTGCCCGCTGTGAGCTCTGTGCTGATGGCTACTTTGG
GGACCCCTTTGGTGAACATGGCCCAGTGAGGCCTTGTCAGCCCTGTCAATGCAACAACAATGTGGACCCCAGTGCCTCTGGGAATTGTGA
CCGGCTGACAGGCAGGTGTTTGAAGTGTATCCACAACACAGCCGGCATCTACTGCGACCAGTGCAAAGCAGGCTACTTCGGGGACCCATT
GGCTCCCAACCCAGCAGACAAGTGTCGAGCTTGCAACTGTAACCCCATGGGCTCAGAGCCTGTAGGATGTCGAAGTGATGGCACCTGTGT
TTGCAAGCCAGGATTTGGTGGCCCCAACTGTGAGCATGGAGCATTCAGCTGTCCAGCTTGCTATAATCAAGTGAAGATTCAGAAACTGGC
AGACCTTTCACTTCGTATCCAACAAATTGAAACAACTCTCAATATTTTAGATGCAAAGTTGTCATCTATCCCAGGCCTAGATGATGTCAC
AGTTGAAGTATCTCCTTTAAATGTCACCAGTGTCACAAATGGAGCACATCCTGAAGCCACTTCAGAGCAACCACAGCAGAACAGTACACA
AGACTCTGGACTACAGGAAAGTGAAGTATCAGCAGAAAATATCTTAACTGTAGCCAAGGATCCAAGATATGCCAGATATCTCAAAATGGT
TCAAGTGGGTGTACCAGTGATGGCAATAAGAAACAAAATGATATCAGAAGGACTAGACCCAGATCTTCTTGAGAGGCCAGATGCTCCAGT
GCCTGATGGCGAAAGTGAGAAAACTGTAGAAGAAAGTTCAGATAGCGAATCTTCTTTTAGTGATTAAGCTTAATTTTGATAAGAATTACA
TATGCATGCATAGGGGTACATTTACATTCTGTAAGAGATTGAGCCTGAACTCTCTTAGTCATAAAAACATCAAATGGCCACATGTCCACT

>In-frame_ENST00000493293_ENST00000240079_TCGA-HD-7753_LAMC2_chr1_183200238_+_CCDC53_chr12_102439897_length(amino acids)=763AA_start in transcript=115_stop in transcript=2406
MPALWLGCCLCFSLLLPAARATSRREVCDCNGKSRQCIFDRELHRQTGNGFRCLNCNDNTDGIHCEKCKNGFYRHRERDRCLPCNCNSKG
SLSARCDNSGRCSCKPGVTGARCDRCLPGFHMLTDAGCTQDQRLLDSKCDCDPAGIAGPCDAGRCVCKPAVTGERCDRCRSGYYNLDGGN
PEGCTQCFCYGHSASCRSSAEYSVHKITSTFHQDVDGWKAVQRNGSPAKLQWSQRHQDVFSSAQRLDPVYFVAPAKFLGNQQVSYGQSLS
FDYRVDRGGRHPSAHDVILEGAGLRITAPLMPLGKTLPCGLTKTYTFRLNEHPSNNWSPQLSYFEYRRLLRNLTALRIRATYGEYSTGYI
DNVTLISARPVSGAPAPWVEQCICPVGYKGQFCQDCASGYKRDSARLGPFGTCIPCNCQGGGACDPDTGDCYSGDENPDIECADCPIGFY
NDPHDPRSCKPCPCHNGFSCSVMPETEEVVCNNCPPGVTGARCELCADGYFGDPFGEHGPVRPCQPCQCNNNVDPSASGNCDRLTGRCLK
CIHNTAGIYCDQCKAGYFGDPLAPNPADKCRACNCNPMGSEPVGCRSDGTCVCKPGFGGPNCEHGAFSCPACYNQVKIQKLADLSLRIQQ
IETTLNILDAKLSSIPGLDDVTVEVSPLNVTSVTNGAHPEATSEQPQQNSTQDSGLQESEVSAENILTVAKDPRYARYLKMVQVGVPVMA

--------------------------------------------------------------
>In-frame_ENST00000493293_ENST00000545679_TCGA-HD-7753_LAMC2_chr1_183200238_+_CCDC53_chr12_102439897_length(transcript)=2570nt_BP=1972nt
ACCACCTGATCAAGGAAAAGGAAGGCACAGCGGAGCGCAGAGTGAGAACCACCAACCGAGGCGCCGGGCAGCGACCCCTGCAGCGGAGAC
AGAGACTGAGCGGCCCGGCCCCGCCATGCCTGCGCTCTGGCTGGGCTGCTGCCTCTGCTTCTCGCTCCTCCTGCCCGCAGCCCGGGCCAC
CTCCAGGAGGGAAGTCTGTGATTGCAATGGGAAGTCCAGGCAGTGTATCTTTGATCGGGAACTTCACAGACAAACTGGTAATGGATTCCG
CTGCCTCAACTGCAATGACAACACTGATGGCATTCACTGCGAGAAGTGCAAGAATGGCTTTTACCGGCACAGAGAAAGGGACCGCTGTTT
GCCCTGCAATTGTAACTCCAAAGGTTCTCTTAGTGCTCGATGTGACAACTCCGGACGGTGCAGCTGTAAACCAGGTGTGACAGGAGCCAG
ATGCGACCGATGTCTGCCAGGCTTCCACATGCTCACGGATGCGGGGTGCACCCAAGACCAGAGACTGCTAGACTCCAAGTGTGACTGTGA
CCCAGCTGGCATCGCAGGGCCCTGTGACGCGGGCCGCTGTGTCTGCAAGCCAGCTGTCACTGGAGAACGCTGTGATAGGTGTCGATCAGG
TTACTATAATCTGGATGGGGGGAACCCTGAGGGCTGTACCCAGTGTTTCTGCTATGGGCATTCAGCCAGCTGCCGCAGCTCTGCAGAATA
CAGTGTCCATAAGATCACCTCTACCTTTCATCAAGATGTTGATGGCTGGAAGGCTGTCCAACGAAATGGGTCTCCTGCAAAGCTCCAATG
GTCACAGCGCCATCAAGATGTGTTTAGCTCAGCCCAACGACTAGACCCTGTCTATTTTGTGGCTCCTGCCAAATTTCTTGGGAATCAACA
GGTGAGCTATGGTCAAAGCCTGTCCTTTGACTACCGTGTGGACAGAGGAGGCAGACACCCATCTGCCCATGATGTGATTCTGGAAGGTGC
TGGTCTACGGATCACAGCTCCCTTGATGCCACTTGGCAAGACACTGCCTTGTGGGCTCACCAAGACTTACACATTCAGGTTAAATGAGCA
TCCAAGCAATAATTGGAGCCCCCAGCTGAGTTACTTTGAGTATCGAAGGTTACTGCGGAATCTCACAGCCCTCCGCATCCGAGCTACATA
TGGAGAATACAGTACTGGGTACATTGACAATGTGACCCTGATTTCAGCCCGCCCTGTCTCTGGAGCCCCAGCACCCTGGGTTGAACAGTG
TATATGTCCTGTTGGGTACAAGGGGCAATTCTGCCAGGATTGTGCTTCTGGCTACAAGAGAGATTCAGCGAGACTGGGGCCTTTTGGCAC
CTGTATTCCTTGTAACTGTCAAGGGGGAGGGGCCTGTGATCCAGACACAGGAGATTGTTATTCAGGGGATGAGAATCCTGACATTGAGTG
TGCTGACTGCCCAATTGGTTTCTACAACGATCCGCACGACCCCCGCAGCTGCAAGCCATGTCCCTGTCATAACGGGTTCAGCTGCTCAGT
GATGCCGGAGACGGAGGAGGTGGTGTGCAATAACTGCCCTCCCGGGGTCACCGGTGCCCGCTGTGAGCTCTGTGCTGATGGCTACTTTGG
GGACCCCTTTGGTGAACATGGCCCAGTGAGGCCTTGTCAGCCCTGTCAATGCAACAACAATGTGGACCCCAGTGCCTCTGGGAATTGTGA
CCGGCTGACAGGCAGGTGTTTGAAGTGTATCCACAACACAGCCGGCATCTACTGCGACCAGTGCAAAGCAGGCTACTTCGGGGACCCATT
GGCTCCCAACCCAGCAGACAAGTGTCGAGCTTGCAACTGTAACCCCATGGGCTCAGAGCCTGTAGGATGTCGAAGTGATGGCACCTGTGT
TTGCAAGCCAGGATTTGGTGGCCCCAACTGTGAGCATGGAGCATTCAGCTGTCCAGCTTGCTATAATCAAGTGAAGATTCAGAAACTGGC
AGACCTTTCACTTCGTATCCAACAAATTGAAACAACTCTCAATATTTTAGATGCAAAGTTGTCATCTATCCCAGGCCTAGATGATGTCAC
AGTTGAAGTATCTCCTTTAAATGTCACCAGTGTCACAAATGGAGCACATCCTGAAGCCACTTCAGAGCAACCACAGAACAGTACACAAGA
CTCTGGACTACAGGAAAGTGAAGTATCAGCAGAAAATATCTTAACTGTAGCCAAGGATCCAAGATATGCCAGATATCTCAAAATGGTTCA
AGTGGGTGTACCAGTGATGGCAATAAGAAACAAAATGATATCAGAAGGACTAGACCCAGATCTTCTTGAGAGGCCAGATGCTCCAGTGCC
TGATGGCGAAAGTGAGAAAACTGTAGAAGAAAGTTCAGATAGCGAATCTTCTTTTAGTGATTAAGCTTAATTTTGATAAGAATTACATAT
GCATGCATAGGGGTACATTTACATTCTGTAAGAGATTGAGCCTGAACTCTCTTAGTCATAAAAACATCAAATGGCCACATGTCCACTACC

>In-frame_ENST00000493293_ENST00000545679_TCGA-HD-7753_LAMC2_chr1_183200238_+_CCDC53_chr12_102439897_length(amino acids)=762AA_start in transcript=115_stop in transcript=2403
MPALWLGCCLCFSLLLPAARATSRREVCDCNGKSRQCIFDRELHRQTGNGFRCLNCNDNTDGIHCEKCKNGFYRHRERDRCLPCNCNSKG
SLSARCDNSGRCSCKPGVTGARCDRCLPGFHMLTDAGCTQDQRLLDSKCDCDPAGIAGPCDAGRCVCKPAVTGERCDRCRSGYYNLDGGN
PEGCTQCFCYGHSASCRSSAEYSVHKITSTFHQDVDGWKAVQRNGSPAKLQWSQRHQDVFSSAQRLDPVYFVAPAKFLGNQQVSYGQSLS
FDYRVDRGGRHPSAHDVILEGAGLRITAPLMPLGKTLPCGLTKTYTFRLNEHPSNNWSPQLSYFEYRRLLRNLTALRIRATYGEYSTGYI
DNVTLISARPVSGAPAPWVEQCICPVGYKGQFCQDCASGYKRDSARLGPFGTCIPCNCQGGGACDPDTGDCYSGDENPDIECADCPIGFY
NDPHDPRSCKPCPCHNGFSCSVMPETEEVVCNNCPPGVTGARCELCADGYFGDPFGEHGPVRPCQPCQCNNNVDPSASGNCDRLTGRCLK
CIHNTAGIYCDQCKAGYFGDPLAPNPADKCRACNCNPMGSEPVGCRSDGTCVCKPGFGGPNCEHGAFSCPACYNQVKIQKLADLSLRIQQ
IETTLNILDAKLSSIPGLDDVTVEVSPLNVTSVTNGAHPEATSEQPQNSTQDSGLQESEVSAENILTVAKDPRYARYLKMVQVGVPVMAI

--------------------------------------------------------------
>In-frame_ENST00000264144_ENST00000240079_TCGA-HD-7753_LAMC2_chr1_183200238_+_CCDC53_chr12_102439897_length(transcript)=2526nt_BP=1922nt
ACCAACCGAGGCGCCGGGCAGCGACCCCTGCAGCGGAGACAGAGACTGAGCGGCCCGGCCCCGCCATGCCTGCGCTCTGGCTGGGCTGCT
GCCTCTGCTTCTCGCTCCTCCTGCCCGCAGCCCGGGCCACCTCCAGGAGGGAAGTCTGTGATTGCAATGGGAAGTCCAGGCAGTGTATCT
TTGATCGGGAACTTCACAGACAAACTGGTAATGGATTCCGCTGCCTCAACTGCAATGACAACACTGATGGCATTCACTGCGAGAAGTGCA
AGAATGGCTTTTACCGGCACAGAGAAAGGGACCGCTGTTTGCCCTGCAATTGTAACTCCAAAGGTTCTCTTAGTGCTCGATGTGACAACT
CCGGACGGTGCAGCTGTAAACCAGGTGTGACAGGAGCCAGATGCGACCGATGTCTGCCAGGCTTCCACATGCTCACGGATGCGGGGTGCA
CCCAAGACCAGAGACTGCTAGACTCCAAGTGTGACTGTGACCCAGCTGGCATCGCAGGGCCCTGTGACGCGGGCCGCTGTGTCTGCAAGC
CAGCTGTCACTGGAGAACGCTGTGATAGGTGTCGATCAGGTTACTATAATCTGGATGGGGGGAACCCTGAGGGCTGTACCCAGTGTTTCT
GCTATGGGCATTCAGCCAGCTGCCGCAGCTCTGCAGAATACAGTGTCCATAAGATCACCTCTACCTTTCATCAAGATGTTGATGGCTGGA
AGGCTGTCCAACGAAATGGGTCTCCTGCAAAGCTCCAATGGTCACAGCGCCATCAAGATGTGTTTAGCTCAGCCCAACGACTAGACCCTG
TCTATTTTGTGGCTCCTGCCAAATTTCTTGGGAATCAACAGGTGAGCTATGGTCAAAGCCTGTCCTTTGACTACCGTGTGGACAGAGGAG
GCAGACACCCATCTGCCCATGATGTGATTCTGGAAGGTGCTGGTCTACGGATCACAGCTCCCTTGATGCCACTTGGCAAGACACTGCCTT
GTGGGCTCACCAAGACTTACACATTCAGGTTAAATGAGCATCCAAGCAATAATTGGAGCCCCCAGCTGAGTTACTTTGAGTATCGAAGGT
TACTGCGGAATCTCACAGCCCTCCGCATCCGAGCTACATATGGAGAATACAGTACTGGGTACATTGACAATGTGACCCTGATTTCAGCCC
GCCCTGTCTCTGGAGCCCCAGCACCCTGGGTTGAACAGTGTATATGTCCTGTTGGGTACAAGGGGCAATTCTGCCAGGATTGTGCTTCTG
GCTACAAGAGAGATTCAGCGAGACTGGGGCCTTTTGGCACCTGTATTCCTTGTAACTGTCAAGGGGGAGGGGCCTGTGATCCAGACACAG
GAGATTGTTATTCAGGGGATGAGAATCCTGACATTGAGTGTGCTGACTGCCCAATTGGTTTCTACAACGATCCGCACGACCCCCGCAGCT
GCAAGCCATGTCCCTGTCATAACGGGTTCAGCTGCTCAGTGATGCCGGAGACGGAGGAGGTGGTGTGCAATAACTGCCCTCCCGGGGTCA
CCGGTGCCCGCTGTGAGCTCTGTGCTGATGGCTACTTTGGGGACCCCTTTGGTGAACATGGCCCAGTGAGGCCTTGTCAGCCCTGTCAAT
GCAACAACAATGTGGACCCCAGTGCCTCTGGGAATTGTGACCGGCTGACAGGCAGGTGTTTGAAGTGTATCCACAACACAGCCGGCATCT
ACTGCGACCAGTGCAAAGCAGGCTACTTCGGGGACCCATTGGCTCCCAACCCAGCAGACAAGTGTCGAGCTTGCAACTGTAACCCCATGG
GCTCAGAGCCTGTAGGATGTCGAAGTGATGGCACCTGTGTTTGCAAGCCAGGATTTGGTGGCCCCAACTGTGAGCATGGAGCATTCAGCT
GTCCAGCTTGCTATAATCAAGTGAAGATTCAGAAACTGGCAGACCTTTCACTTCGTATCCAACAAATTGAAACAACTCTCAATATTTTAG
ATGCAAAGTTGTCATCTATCCCAGGCCTAGATGATGTCACAGTTGAAGTATCTCCTTTAAATGTCACCAGTGTCACAAATGGAGCACATC
CTGAAGCCACTTCAGAGCAACCACAGCAGAACAGTACACAAGACTCTGGACTACAGGAAAGTGAAGTATCAGCAGAAAATATCTTAACTG
TAGCCAAGGATCCAAGATATGCCAGATATCTCAAAATGGTTCAAGTGGGTGTACCAGTGATGGCAATAAGAAACAAAATGATATCAGAAG
GACTAGACCCAGATCTTCTTGAGAGGCCAGATGCTCCAGTGCCTGATGGCGAAAGTGAGAAAACTGTAGAAGAAAGTTCAGATAGCGAAT
CTTCTTTTAGTGATTAAGCTTAATTTTGATAAGAATTACATATGCATGCATAGGGGTACATTTACATTCTGTAAGAGATTGAGCCTGAAC
TCTCTTAGTCATAAAAACATCAAATGGCCACATGTCCACTACCAAGCTTCTTCTATGTTAAAAAAATAATAATAAAGCAGTTTTAACCTG

>In-frame_ENST00000264144_ENST00000240079_TCGA-HD-7753_LAMC2_chr1_183200238_+_CCDC53_chr12_102439897_length(amino acids)=763AA_start in transcript=65_stop in transcript=2356
MPALWLGCCLCFSLLLPAARATSRREVCDCNGKSRQCIFDRELHRQTGNGFRCLNCNDNTDGIHCEKCKNGFYRHRERDRCLPCNCNSKG
SLSARCDNSGRCSCKPGVTGARCDRCLPGFHMLTDAGCTQDQRLLDSKCDCDPAGIAGPCDAGRCVCKPAVTGERCDRCRSGYYNLDGGN
PEGCTQCFCYGHSASCRSSAEYSVHKITSTFHQDVDGWKAVQRNGSPAKLQWSQRHQDVFSSAQRLDPVYFVAPAKFLGNQQVSYGQSLS
FDYRVDRGGRHPSAHDVILEGAGLRITAPLMPLGKTLPCGLTKTYTFRLNEHPSNNWSPQLSYFEYRRLLRNLTALRIRATYGEYSTGYI
DNVTLISARPVSGAPAPWVEQCICPVGYKGQFCQDCASGYKRDSARLGPFGTCIPCNCQGGGACDPDTGDCYSGDENPDIECADCPIGFY
NDPHDPRSCKPCPCHNGFSCSVMPETEEVVCNNCPPGVTGARCELCADGYFGDPFGEHGPVRPCQPCQCNNNVDPSASGNCDRLTGRCLK
CIHNTAGIYCDQCKAGYFGDPLAPNPADKCRACNCNPMGSEPVGCRSDGTCVCKPGFGGPNCEHGAFSCPACYNQVKIQKLADLSLRIQQ
IETTLNILDAKLSSIPGLDDVTVEVSPLNVTSVTNGAHPEATSEQPQQNSTQDSGLQESEVSAENILTVAKDPRYARYLKMVQVGVPVMA

--------------------------------------------------------------
>In-frame_ENST00000264144_ENST00000545679_TCGA-HD-7753_LAMC2_chr1_183200238_+_CCDC53_chr12_102439897_length(transcript)=2520nt_BP=1922nt
ACCAACCGAGGCGCCGGGCAGCGACCCCTGCAGCGGAGACAGAGACTGAGCGGCCCGGCCCCGCCATGCCTGCGCTCTGGCTGGGCTGCT
GCCTCTGCTTCTCGCTCCTCCTGCCCGCAGCCCGGGCCACCTCCAGGAGGGAAGTCTGTGATTGCAATGGGAAGTCCAGGCAGTGTATCT
TTGATCGGGAACTTCACAGACAAACTGGTAATGGATTCCGCTGCCTCAACTGCAATGACAACACTGATGGCATTCACTGCGAGAAGTGCA
AGAATGGCTTTTACCGGCACAGAGAAAGGGACCGCTGTTTGCCCTGCAATTGTAACTCCAAAGGTTCTCTTAGTGCTCGATGTGACAACT
CCGGACGGTGCAGCTGTAAACCAGGTGTGACAGGAGCCAGATGCGACCGATGTCTGCCAGGCTTCCACATGCTCACGGATGCGGGGTGCA
CCCAAGACCAGAGACTGCTAGACTCCAAGTGTGACTGTGACCCAGCTGGCATCGCAGGGCCCTGTGACGCGGGCCGCTGTGTCTGCAAGC
CAGCTGTCACTGGAGAACGCTGTGATAGGTGTCGATCAGGTTACTATAATCTGGATGGGGGGAACCCTGAGGGCTGTACCCAGTGTTTCT
GCTATGGGCATTCAGCCAGCTGCCGCAGCTCTGCAGAATACAGTGTCCATAAGATCACCTCTACCTTTCATCAAGATGTTGATGGCTGGA
AGGCTGTCCAACGAAATGGGTCTCCTGCAAAGCTCCAATGGTCACAGCGCCATCAAGATGTGTTTAGCTCAGCCCAACGACTAGACCCTG
TCTATTTTGTGGCTCCTGCCAAATTTCTTGGGAATCAACAGGTGAGCTATGGTCAAAGCCTGTCCTTTGACTACCGTGTGGACAGAGGAG
GCAGACACCCATCTGCCCATGATGTGATTCTGGAAGGTGCTGGTCTACGGATCACAGCTCCCTTGATGCCACTTGGCAAGACACTGCCTT
GTGGGCTCACCAAGACTTACACATTCAGGTTAAATGAGCATCCAAGCAATAATTGGAGCCCCCAGCTGAGTTACTTTGAGTATCGAAGGT
TACTGCGGAATCTCACAGCCCTCCGCATCCGAGCTACATATGGAGAATACAGTACTGGGTACATTGACAATGTGACCCTGATTTCAGCCC
GCCCTGTCTCTGGAGCCCCAGCACCCTGGGTTGAACAGTGTATATGTCCTGTTGGGTACAAGGGGCAATTCTGCCAGGATTGTGCTTCTG
GCTACAAGAGAGATTCAGCGAGACTGGGGCCTTTTGGCACCTGTATTCCTTGTAACTGTCAAGGGGGAGGGGCCTGTGATCCAGACACAG
GAGATTGTTATTCAGGGGATGAGAATCCTGACATTGAGTGTGCTGACTGCCCAATTGGTTTCTACAACGATCCGCACGACCCCCGCAGCT
GCAAGCCATGTCCCTGTCATAACGGGTTCAGCTGCTCAGTGATGCCGGAGACGGAGGAGGTGGTGTGCAATAACTGCCCTCCCGGGGTCA
CCGGTGCCCGCTGTGAGCTCTGTGCTGATGGCTACTTTGGGGACCCCTTTGGTGAACATGGCCCAGTGAGGCCTTGTCAGCCCTGTCAAT
GCAACAACAATGTGGACCCCAGTGCCTCTGGGAATTGTGACCGGCTGACAGGCAGGTGTTTGAAGTGTATCCACAACACAGCCGGCATCT
ACTGCGACCAGTGCAAAGCAGGCTACTTCGGGGACCCATTGGCTCCCAACCCAGCAGACAAGTGTCGAGCTTGCAACTGTAACCCCATGG
GCTCAGAGCCTGTAGGATGTCGAAGTGATGGCACCTGTGTTTGCAAGCCAGGATTTGGTGGCCCCAACTGTGAGCATGGAGCATTCAGCT
GTCCAGCTTGCTATAATCAAGTGAAGATTCAGAAACTGGCAGACCTTTCACTTCGTATCCAACAAATTGAAACAACTCTCAATATTTTAG
ATGCAAAGTTGTCATCTATCCCAGGCCTAGATGATGTCACAGTTGAAGTATCTCCTTTAAATGTCACCAGTGTCACAAATGGAGCACATC
CTGAAGCCACTTCAGAGCAACCACAGAACAGTACACAAGACTCTGGACTACAGGAAAGTGAAGTATCAGCAGAAAATATCTTAACTGTAG
CCAAGGATCCAAGATATGCCAGATATCTCAAAATGGTTCAAGTGGGTGTACCAGTGATGGCAATAAGAAACAAAATGATATCAGAAGGAC
TAGACCCAGATCTTCTTGAGAGGCCAGATGCTCCAGTGCCTGATGGCGAAAGTGAGAAAACTGTAGAAGAAAGTTCAGATAGCGAATCTT
CTTTTAGTGATTAAGCTTAATTTTGATAAGAATTACATATGCATGCATAGGGGTACATTTACATTCTGTAAGAGATTGAGCCTGAACTCT
CTTAGTCATAAAAACATCAAATGGCCACATGTCCACTACCAAGCTTCTTCTATGTTAAAAAAATAATAATAAAGCAGTTTTAACCTGCCA

>In-frame_ENST00000264144_ENST00000545679_TCGA-HD-7753_LAMC2_chr1_183200238_+_CCDC53_chr12_102439897_length(amino acids)=762AA_start in transcript=65_stop in transcript=2353
MPALWLGCCLCFSLLLPAARATSRREVCDCNGKSRQCIFDRELHRQTGNGFRCLNCNDNTDGIHCEKCKNGFYRHRERDRCLPCNCNSKG
SLSARCDNSGRCSCKPGVTGARCDRCLPGFHMLTDAGCTQDQRLLDSKCDCDPAGIAGPCDAGRCVCKPAVTGERCDRCRSGYYNLDGGN
PEGCTQCFCYGHSASCRSSAEYSVHKITSTFHQDVDGWKAVQRNGSPAKLQWSQRHQDVFSSAQRLDPVYFVAPAKFLGNQQVSYGQSLS
FDYRVDRGGRHPSAHDVILEGAGLRITAPLMPLGKTLPCGLTKTYTFRLNEHPSNNWSPQLSYFEYRRLLRNLTALRIRATYGEYSTGYI
DNVTLISARPVSGAPAPWVEQCICPVGYKGQFCQDCASGYKRDSARLGPFGTCIPCNCQGGGACDPDTGDCYSGDENPDIECADCPIGFY
NDPHDPRSCKPCPCHNGFSCSVMPETEEVVCNNCPPGVTGARCELCADGYFGDPFGEHGPVRPCQPCQCNNNVDPSASGNCDRLTGRCLK
CIHNTAGIYCDQCKAGYFGDPLAPNPADKCRACNCNPMGSEPVGCRSDGTCVCKPGFGGPNCEHGAFSCPACYNQVKIQKLADLSLRIQQ
IETTLNILDAKLSSIPGLDDVTVEVSPLNVTSVTNGAHPEATSEQPQNSTQDSGLQESEVSAENILTVAKDPRYARYLKMVQVGVPVMAI

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

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Fusion Gene PPI Analysis for LAMC2-CCDC53


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 LAMC2-CCDC53


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 LAMC2-CCDC53


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLAMC2C0268374Adult junctional epidermolysis bullosa (disorder)4CTD_human;GENOMICS_ENGLAND
HgeneLAMC2C0079683Herlitz Disease3CTD_human;GENOMICS_ENGLAND
HgeneLAMC2C0079301Junctional Epidermolysis Bullosa2CTD_human;GENOMICS_ENGLAND
HgeneLAMC2C0002452Amelogenesis Imperfecta1GENOMICS_ENGLAND
HgeneLAMC2C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneLAMC2C0023890Liver Cirrhosis1CTD_human
HgeneLAMC2C0235874Disease Exacerbation1CTD_human
HgeneLAMC2C0239946Fibrosis, Liver1CTD_human
HgeneLAMC2C2608084EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)1CTD_human