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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:LAMA2-EPB41L2 (FusionGDB2 ID:43851)

Fusion Gene Summary for LAMA2-EPB41L2

check button Fusion gene summary
Fusion gene informationFusion gene name: LAMA2-EPB41L2
Fusion gene ID: 43851
HgeneTgene
Gene symbol

LAMA2

EPB41L2

Gene ID

3908

2037

Gene namelaminin subunit alpha 2erythrocyte membrane protein band 4.1 like 2
SynonymsLAMM|MDC1A4.1-G|4.1G
Cytomap

6q22.33

6q23.1-q23.2

Type of geneprotein-codingprotein-coding
Descriptionlaminin subunit alpha-2laminin M chainlaminin, alpha 2laminin-12 subunit alphalaminin-2 subunit alphalaminin-4 subunit alphamerosin heavy chainmutant laminin subunit alpha 2band 4.1-like protein 2erythrocyte membrane protein band 4.1 like-protein 2generally expressed protein 4.1
Modification date2020032820200313
UniProtAcc

P24043

O43491

Ensembl transtripts involved in fusion geneENST00000421865, ENST00000498257, 
ENST00000530148, ENST00000368128, 
ENST00000392427, ENST00000524581, 
ENST00000525193, ENST00000525271, 
ENST00000527411, ENST00000527659, 
ENST00000529208, ENST00000530757, 
ENST00000531410, ENST00000337057, 
ENST00000445890, ENST00000528282, 
ENST00000530481, 
Fusion gene scores* DoF score9 X 8 X 4=28810 X 9 X 8=720
# samples 910
** MAII scorelog2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/720*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LAMA2 [Title/Abstract] AND EPB41L2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPB41L2(131247745)-LAMA2(129704267), # samples:2
LAMA2(129419560)-EPB41L2(131230003), # samples:1
Anticipated loss of major functional domain due to fusion event.EPB41L2-LAMA2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 LAMA2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across EPB41L2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-BR-8364-01ALAMA2chr6

129419560

+EPB41L2chr6

131230003

-


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Fusion Gene ORF analysis for LAMA2-EPB41L2

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
5CDS-5UTRENST00000421865ENST00000530148LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000368128LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000392427LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000524581LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000525193LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000525271LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000527411LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000527659LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000529208LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000530757LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
5CDS-intronENST00000421865ENST00000531410LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
In-frameENST00000421865ENST00000337057LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
In-frameENST00000421865ENST00000445890LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
In-frameENST00000421865ENST00000528282LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
In-frameENST00000421865ENST00000530481LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-3CDSENST00000498257ENST00000337057LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-3CDSENST00000498257ENST00000445890LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-3CDSENST00000498257ENST00000528282LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-3CDSENST00000498257ENST00000530481LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-5UTRENST00000498257ENST00000530148LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000368128LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000392427LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000524581LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000525193LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000525271LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000527411LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000527659LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000529208LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000530757LAMA2chr6

129419560

+EPB41L2chr6

131230003

-
intron-intronENST00000498257ENST00000531410LAMA2chr6

129419560

+EPB41L2chr6

131230003

-

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)
ENST00000421865LAMA2chr6129419560+ENST00000528282EPB41L2chr6131230003-3379688492121690
ENST00000421865LAMA2chr6129419560+ENST00000530481EPB41L2chr6131230003-3694688492436795
ENST00000421865LAMA2chr6129419560+ENST00000445890EPB41L2chr6131230003-3379688492121690
ENST00000421865LAMA2chr6129419560+ENST00000337057EPB41L2chr6131230003-4153688492895948

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
ENST00000421865ENST00000528282LAMA2chr6129419560+EPB41L2chr6131230003-0.0008459310.9991541
ENST00000421865ENST00000530481LAMA2chr6129419560+EPB41L2chr6131230003-0.0005522850.99944776
ENST00000421865ENST00000445890LAMA2chr6129419560+EPB41L2chr6131230003-0.0008459310.9991541
ENST00000421865ENST00000337057LAMA2chr6129419560+EPB41L2chr6131230003-0.0002648070.9997352

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Fusion Genomic Features for LAMA2-EPB41L2


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.
genomic feature

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 LAMA2-EPB41L2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:131247745/chr6:129704267)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LAMA2

P24043

EPB41L2

O43491

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.FUNCTION: Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127). {ECO:0000269|PubMed:23870127}.

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
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000337057320502_6102701236.3333333333333RegionNote=Hydrophilic
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000337057320611_6762701236.3333333333333RegionNote=Spectrin--actin-binding
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000337057320855_10052701236.3333333333333RegionNote=C-terminal (CTD)
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000368128320502_6102701230.0RegionNote=Hydrophilic
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000368128320611_6762701230.0RegionNote=Spectrin--actin-binding
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000368128320855_10052701230.0RegionNote=C-terminal (CTD)
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000392427315502_610270933.0RegionNote=Hydrophilic
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000392427315611_676270933.0RegionNote=Spectrin--actin-binding
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000392427315855_1005270933.0RegionNote=C-terminal (CTD)
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000445890317502_610270980.3333333333334RegionNote=Hydrophilic
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000445890317611_676270980.3333333333334RegionNote=Spectrin--actin-binding
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000445890317855_1005270980.3333333333334RegionNote=C-terminal (CTD)
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000525271315502_610270645.3333333333334RegionNote=Hydrophilic
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000525271315611_676270645.3333333333334RegionNote=Spectrin--actin-binding
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000525271315855_1005270645.3333333333334RegionNote=C-terminal (CTD)
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000528282317502_610270985.0RegionNote=Hydrophilic
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000528282317611_676270985.0RegionNote=Spectrin--actin-binding
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000528282317855_1005270985.0RegionNote=C-terminal (CTD)
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000530481318502_6102701111.3333333333333RegionNote=Hydrophilic
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000530481318611_6762701111.3333333333333RegionNote=Spectrin--actin-binding
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000530481318855_10052701111.3333333333333RegionNote=C-terminal (CTD)

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651630_21502133123.0Coiled coilOntology_term=ECO:0000255
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651014_10592133123.0DomainLaminin EGF-like 11
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651060_11052133123.0DomainLaminin EGF-like 12
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651106_11652133123.0DomainLaminin EGF-like 13
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651166_11752133123.0DomainLaminin EGF-like 14%3B first part
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651176_13792133123.0DomainLaminin IV type A 2
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651380_14192133123.0DomainLaminin EGF-like 14%3B second part
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651420_14682133123.0DomainLaminin EGF-like 15
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651469_15262133123.0DomainLaminin EGF-like 16
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651527_15732133123.0DomainLaminin EGF-like 17
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4652145_23282133123.0DomainLaminin G-like 1
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4652340_25212133123.0DomainLaminin G-like 2
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4652526_27102133123.0DomainLaminin G-like 3
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4652763_29342133123.0DomainLaminin G-like 4
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465287_3432133123.0DomainLaminin EGF-like 1
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4652939_31102133123.0DomainLaminin G-like 5
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465344_4132133123.0DomainLaminin EGF-like 2
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+46535_2862133123.0DomainLaminin N-terminal
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465414_4682133123.0DomainLaminin EGF-like 3
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465469_5172133123.0DomainLaminin EGF-like 4
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465518_5272133123.0DomainLaminin EGF-like 5%3B first part
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465531_7232133123.0DomainLaminin IV type A 1
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465724_7562133123.0DomainLaminin EGF-like 5%3B second part
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465757_8062133123.0DomainLaminin EGF-like 6
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465807_8642133123.0DomainLaminin EGF-like 7
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465865_9172133123.0DomainLaminin EGF-like 8
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465918_9662133123.0DomainLaminin EGF-like 9
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+465967_10132133123.0DomainLaminin EGF-like 10
HgeneLAMA2chr6:129419560chr6:131230003ENST00000421865+4651574_21442133123.0RegionNote=Domain II and I
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000337057320218_4992701236.3333333333333DomainFERM
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000368128320218_4992701230.0DomainFERM
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000392427315218_499270933.0DomainFERM
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000445890317218_499270980.3333333333334DomainFERM
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000525271315218_499270645.3333333333334DomainFERM
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000528282317218_499270985.0DomainFERM
TgeneEPB41L2chr6:129419560chr6:131230003ENST00000530481318218_4992701111.3333333333333DomainFERM


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Fusion Gene Sequence for LAMA2-EPB41L2


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.
>43851_43851_1_LAMA2-EPB41L2_LAMA2_chr6_129419560_ENST00000421865_EPB41L2_chr6_131230003_ENST00000337057_length(transcript)=4153nt_BP=688nt
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGATGCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTC
CGGAGGCCTCGGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCT
GAATCTTGCTTCTAATGCTCTTATCACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCC
TGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCTGCAATCAAAACAGCAGCAATCCAAACCAGAGACACCCGATTACAAATGCTATTGA
TGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTACCCTGGATTTACAGCAGGTGTT
CCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAA
GCCCTGGCAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCCCCGCACTGGGCCACCGTCATATGCCAAAGA
TGATGAGGTCATCTGCACTTCATTTTACTCCAAGATACACCCCTTAGAAAATGGAGAGAACTGGTTAGATCCTGCTAAAGAAATAAAGAG
ACAACTGAGAAACCTTCCATGGCTATTCACTTTTAATGTGAAGTTTTATCCTCCTGATCCTTCTCAATTGACTGAAGATATCACCAGATA
CTTCTTGTGCCTTCAGCTCCGGCAGGACATTGCCTCTGGCCGCCTGCCCTGCTCTTTTGTGACTCATGCTCTCCTGGGATCCTACACCCT
GCAGGCTGAACTTGGTGACTATGACCCAGAAGAACATGGCAGCATCGACCTCAGTGAATTCCAGTTTGCCCCTACTCAGACTAAGGAGCT
GGAAGAGAAGGTGGCAGAGCTGCACAAAACCCACAGGGGCTTATCGCCAGCACAAGCTGATTCCCAGTTCTTAGAAAATGCAAAGAGGCT
TTCCATGTATGGTGTTGACCTACATCATGCCAAGGACTCAGAAGGTGTGGACATCAAGCTGGGCGTGTGTGCTAATGGACTTCTCATTTA
CAAAGACAGACTGCGAATCAATCGTTTTGCTTGGCCGAAAATCTTAAAAATTTCCTATAAACGCAGTAACTTCTACATTAAAGTCAGACC
GGCAGAGCTGGAACAGTTTGAGAGTACCATTGGATTCAAACTGCCAAACCACCGGGCAGCGAAAAGACTATGGAAAGTGTGCGTGGAGCA
TCATACTTTCTACAGGCTTGTTTCTCCAGAGCAGCCACCAAAAGCCAAGTTCCTGACCTTGGGGTCCAAATTTCGCTATAGTGGCCGCAC
CCAAGCACAGACCCGCCAGGCCAGCACCCTCATAGATAGGCCAGCACCACACTTTGAGCGCACTTCTAGTAAACGGGTCTCCAGGAGTCT
AGATGGAGCTCCGATTGGTGTCATGGACCAAAGTCTTATGAAGGATTTTCCTGGCGCTGCTGGGGAGATTTCAGCCTATGGACCTGGACT
TGTCAGCATTGCCGTGGTACAAGATGGGGACGGCAGGAGGGAAGTGAGAAGCCCAACTAAAGCCCCACATTTGCAGCTCATTGAAGGAAA
GAAAAATTCCTTGAGAGTAGAAGGGGATAATATTTATGTCAGACATAGCAATTTAATGTTGGAGGAACTGGATAAGGCCCAGGAGGACAT
ACTGAAACATCAGGCTAGCATTAGTGAACTCAAGCGCAATTTTATGGAATCCACACCTGAGCCGCGCCCTAATGAATGGGAAAAACGACG
TATCACACCTCTGTCCCTACAGACACAAGGGAGTTCACATGAGACTCTGAATATAGTGGAGGAGAAGAAGCGGGCAGAGGTTGGGAAAGA
CGAAAGAGTAATCACAGAAGAAATGAATGGTAAAGAGATATCACCTGGGAGTGGTCCTGGGGAGATTCGTAAGGTGGAGCCTGTGACACA
AAAAGACTCCACCTCCCTGTCTTCTGAGAGCAGCAGCAGCAGCAGTGAGAGTGAGGAGGAAGACGTGGGAGAGTACCGTCCCCACCACCG
AGTGACCGAGGGCACCATCAGGGAGGAACAGGAGTATGAAGAAGAGGTGGAGGAAGAACCCCGCCCGGCAGCCAAGGTAGTAGAGAGGGA
GGAAGCAGTGCCCGAAGCCAGCCCAGTCACACAAGCAGGTGCCAGTGTAATCACAGTAGAAACAGTGATCCAGGAAAATGTAGGTGCCCA
AAAGATACCCGGAGAGAAGAGTGTACACGAAGGCGCTCTTAAGCAAGACATGGGAGAAGAAGCAGAGGAAGAGCCACAGAAAGTTAACGG
AGAGGTGTCCCATGTTGACATTGATGTTTTGCCACAAATTATTTGTTGTTCAGAGCCACCAGTGGTAAAAACAGAGATGGTAACAATTTC
TGATGCCTCACAAAGGACAGAAATCTCCACCAAGGAAGTCCCCATTGTCCAAACTGAGACCAAAACCATCACATATGAGTCTCCACAGAT
TGATGGCGGGGCTGGTGGTGATTCGGGCACGTTACTGACCGCACAAACCATCACATCTGAGTCCGTGTCAACAACGACAACCACACACAT
CACCAAGACTGTAAAAGGTGGAATTTCTGAAACAAGAATTGAGAAACGCATTGTGATCACAGGAGATGGAGATATTGATCATGACCAGGC
ACTGGCTCAGGCGATCAGGGAAGCCAGAGAGCAGCACCCTGACATGTCGGTCACAAGAGTGGTGGTACACAAAGAAACAGAGTTGGCTGA
GGAAGGGGAAGATTAAGTAAGAAAGTCATTTTTTAAACAACACTCAACTTTGTGAACCCCTGAAGATTTTTTGACCGTTCCAAGTCTTAA
TGCCACACCACTATTCCAGCGAATTTATGCTACAACTGGTAACAATGACCAGAAGCCTGAAGAATTAAAATGCCAACACCAAACCTTTCC
TTACCAGCTCTGGTCTATATTGCTCCCATGCATTTAATATATTATTTTGTTTTATAACCACTTCTAAATATTCTCAGTTCTTTCTTTTTG
TTGTTGTTAATTAAGGGGTTTTGGTTTTGTTTTCTGTTTACTTTGTGTGCAACTACCTGCTTTTAATGACTCACTTTGATCAAATGACAG
TGAACAAAGCCAGCCCAAGCTGGTAAGGTGCTGTTCACTTGAACAGGTGCTGTTGCGCAGAAAGGAAACTCTGTGACTAATTTAGATAGT
GGCTTTCCTTCTTCTGGATTCTTTTCATTGAATTCTCACAGTAAATATTTACGGAGTTTTCAAATTGCAGCAAATATACTGTATGAGAAA
ATATTAATACAGATTAAAAGCCTTTCTTACATCTTGAAAATTTTCTAATATTTGAGAATTTCACAGGGATGTTTTTTATATTGGACCCTT
TTGACTTTCCAGTCCTGTGACTTTCTACTTTTAGTAGAGAGTCAGAATCTCTGGACTGGAGAATAATGAAGAAGTTCACTGACTGTGCAC
TGTGCTTAGAGACCCTGCCGCACCACAGTGCCAATGCTTGTCAGACACATGCCCTTCGGCAGCATTCCAGAACAGGAGGGAAGAGAAAGA
GAAAACTTTCTTCCCTTCTACTAAAAGATTCAGGCAGCTTAAAACCTTAGTGCTTTCTTTCTTAACATACCCACATTTCAATTCTTTCCA
TTATTTGAACACTTGGGTAGAACTCTTGCTTTGTATTAAACCTCTTTGTCTACACATGTAAAACTTACCTTTTGTTATTGAGCAGGCCTA
TCTCTTTCAGATAGTTTTATGATTCACACAGGTTTGAGGATGCTGGGGAGAGGGGGAGGGGGCTGTGGTGGTGTTCTGTTGGTTACAAGA
AAGTTATACCATTTAAAGCTGGCACCAGAGACCCGATAGGGACTTATTAACTATATTGAACATTTTTTCCTTTGCCTTTGACCCTATGTA
TAGTTACGATGCCAGATTAGATTTATAGCAGCCTCAAGTTGTATTAAATGATATTTTGCTTCCTGTAATACTATTATAAAATAAAGTTTG

>43851_43851_1_LAMA2-EPB41L2_LAMA2_chr6_129419560_ENST00000421865_EPB41L2_chr6_131230003_ENST00000337057_length(amino acids)=948AA_BP=213
MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLVEHVPGQPVRNPQCRICNQNS
SNPNQRHPITNAIDGKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLY
NIYPRTGPPSYAKDDEVICTSFYSKIHPLENGENWLDPAKEIKRQLRNLPWLFTFNVKFYPPDPSQLTEDITRYFLCLQLRQDIASGRLP
CSFVTHALLGSYTLQAELGDYDPEEHGSIDLSEFQFAPTQTKELEEKVAELHKTHRGLSPAQADSQFLENAKRLSMYGVDLHHAKDSEGV
DIKLGVCANGLLIYKDRLRINRFAWPKILKISYKRSNFYIKVRPAELEQFESTIGFKLPNHRAAKRLWKVCVEHHTFYRLVSPEQPPKAK
FLTLGSKFRYSGRTQAQTRQASTLIDRPAPHFERTSSKRVSRSLDGAPIGVMDQSLMKDFPGAAGEISAYGPGLVSIAVVQDGDGRREVR
SPTKAPHLQLIEGKKNSLRVEGDNIYVRHSNLMLEELDKAQEDILKHQASISELKRNFMESTPEPRPNEWEKRRITPLSLQTQGSSHETL
NIVEEKKRAEVGKDERVITEEMNGKEISPGSGPGEIRKVEPVTQKDSTSLSSESSSSSSESEEEDVGEYRPHHRVTEGTIREEQEYEEEV
EEEPRPAAKVVEREEAVPEASPVTQAGASVITVETVIQENVGAQKIPGEKSVHEGALKQDMGEEAEEEPQKVNGEVSHVDIDVLPQIICC
SEPPVVKTEMVTISDASQRTEISTKEVPIVQTETKTITYESPQIDGGAGGDSGTLLTAQTITSESVSTTTTTHITKTVKGGISETRIEKR

--------------------------------------------------------------
>43851_43851_2_LAMA2-EPB41L2_LAMA2_chr6_129419560_ENST00000421865_EPB41L2_chr6_131230003_ENST00000445890_length(transcript)=3379nt_BP=688nt
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGATGCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTC
CGGAGGCCTCGGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCT
GAATCTTGCTTCTAATGCTCTTATCACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCC
TGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCTGCAATCAAAACAGCAGCAATCCAAACCAGAGACACCCGATTACAAATGCTATTGA
TGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTACCCTGGATTTACAGCAGGTGTT
CCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAA
GCCCTGGCAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCCCCGCACTGGGCCACCGTCATATGCCAAAGA
TGATGAGGTCATCTGCACTTCATTTTACTCCAAGATACACCCCTTAGAAAATGGAGAGAACTGGTTAGATCCTGCTAAAGAAATAAAGAG
ACAACTGAGAAACCTTCCATGGCTATTCACTTTTAATGTGAAGTTTTATCCTCCTGATCCTTCTCAATTGACTGAAGATATCACCAGATA
CTTCTTGTGCCTTCAGCTCCGGCAGGACATTGCCTCTGGCCGCCTGCCCTGCTCTTTTGTGACTCATGCTCTCCTGGGATCCTACACCCT
GCAGGCTGAACTTGGTGACTATGACCCAGAAGAACATGGCAGCATCGACCTCAGTGAATTCCAGTTTGCCCCTACTCAGACTAAGGAGCT
GGAAGAGAAGGTGGCAGAGCTGCACAAAACCCACAGGGGCTTATCGCCAGCACAAGCTGATTCCCAGTTCTTAGAAAATGCAAAGAGGCT
TTCCATGTATGGTGTTGACCTACATCATGCCAAGGACTCAGAAGGTGTGGACATCAAGCTGGGCGTGTGTGCTAATGGACTTCTCATTTA
CAAAGACAGACTGCGAATCAATCGTTTTGCTTGGCCGAAAATCTTAAAAATTTCCTATAAACGCAGTAACTTCTACATTAAAGTCAGACC
GGCAGAGCTGGAACAGTTTGAGAGTACCATTGGATTCAAACTGCCAAACCACCGGGCAGCGAAAAGACTATGGAAAGTGTGCGTGGAGCA
TCATACTTTCTACAGGCTTGTTTCTCCAGAGCAGCCACCAAAAGCCAAGTTCCTGACCTTGGGGTCCAAATTTCGCTATAGTGGCCGCAC
CCAAGCACAGACCCGCCAGGCCAGCACCCTCATAGATAGGCCAGCACCACACTTTGAGCGCACTTCTAGTAAACGGGTCTCCAGGAGTCT
AGATGGAGCTCCGATTGGTGTCATGGACCAAAGTCTTATGAAGGATTTTCCTGGCGCTGCTGGGGAGATTTCAGCCTATGGACCTGGACT
TGTCAGCATTGCCGTGGTACAAGATGGGGACGGCAGGAGGGAAGTGAGAAGCCCAACTAAAGCCCCACATTTGCAGCTCATTGAAGGAAA
GCCACCAGTGGTAAAAACAGAGATGGTAACAATTTCTGATGCCTCACAAAGGACAGAAATCTCCACCAAGGAAGTCCCCATTGTCCAAAC
TGAGACCAAAACCATCACATATGAGTCTCCACAGATTGATGGCGGGGCTGGTGGTGATTCGGGCACGTTACTGACCGCACAAACCATCAC
ATCTGAGTCCGTGTCAACAACGACAACCACACACATCACCAAGACTGTAAAAGGTGGAATTTCTGAAACAAGAATTGAGAAACGCATTGT
GATCACAGGAGATGGAGATATTGATCATGACCAGGCACTGGCTCAGGCGATCAGGGAAGCCAGAGAGCAGCACCCTGACATGTCGGTCAC
AAGAGTGGTGGTACACAAAGAAACAGAGTTGGCTGAGGAAGGGGAAGATTAAGTAAGAAAGTCATTTTTTAAACAACACTCAACTTTGTG
AACCCCTGAAGATTTTTTGACCGTTCCAAGTCTTAATGCCACACCACTATTCCAGCGAATTTATGCTACAACTGGTAACAATGACCAGAA
GCCTGAAGAATTAAAATGCCAACACCAAACCTTTCCTTACCAGCTCTGGTCTATATTGCTCCCATGCATTTAATATATTATTTTGTTTTA
TAACCACTTCTAAATATTCTCAGTTCTTTCTTTTTGTTGTTGTTAATTAAGGGGTTTTGGTTTTGTTTTCTGTTTACTTTGTGTGCAACT
ACCTGCTTTTAATGACTCACTTTGATCAAATGACAGTGAACAAAGCCAGCCCAAGCTGGTAAGGTGCTGTTCACTTGAACAGGTGCTGTT
GCGCAGAAAGGAAACTCTGTGACTAATTTAGATAGTGGCTTTCCTTCTTCTGGATTCTTTTCATTGAATTCTCACAGTAAATATTTACGG
AGTTTTCAAATTGCAGCAAATATACTGTATGAGAAAATATTAATACAGATTAAAAGCCTTTCTTACATCTTGAAAATTTTCTAATATTTG
AGAATTTCACAGGGATGTTTTTTATATTGGACCCTTTTGACTTTCCAGTCCTGTGACTTTCTACTTTTAGTAGAGAGTCAGAATCTCTGG
ACTGGAGAATAATGAAGAAGTTCACTGACTGTGCACTGTGCTTAGAGACCCTGCCGCACCACAGTGCCAATGCTTGTCAGACACATGCCC
TTCGGCAGCATTCCAGAACAGGAGGGAAGAGAAAGAGAAAACTTTCTTCCCTTCTACTAAAAGATTCAGGCAGCTTAAAACCTTAGTGCT
TTCTTTCTTAACATACCCACATTTCAATTCTTTCCATTATTTGAACACTTGGGTAGAACTCTTGCTTTGTATTAAACCTCTTTGTCTACA
CATGTAAAACTTACCTTTTGTTATTGAGCAGGCCTATCTCTTTCAGATAGTTTTATGATTCACACAGGTTTGAGGATGCTGGGGAGAGGG
GGAGGGGGCTGTGGTGGTGTTCTGTTGGTTACAAGAAAGTTATACCATTTAAAGCTGGCACCAGAGACCCGATAGGGACTTATTAACTAT
ATTGAACATTTTTTCCTTTGCCTTTGACCCTATGTATAGTTACGATGCCAGATTAGATTTATAGCAGCCTCAAGTTGTATTAAATGATAT

>43851_43851_2_LAMA2-EPB41L2_LAMA2_chr6_129419560_ENST00000421865_EPB41L2_chr6_131230003_ENST00000445890_length(amino acids)=690AA_BP=213
MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLVEHVPGQPVRNPQCRICNQNS
SNPNQRHPITNAIDGKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLY
NIYPRTGPPSYAKDDEVICTSFYSKIHPLENGENWLDPAKEIKRQLRNLPWLFTFNVKFYPPDPSQLTEDITRYFLCLQLRQDIASGRLP
CSFVTHALLGSYTLQAELGDYDPEEHGSIDLSEFQFAPTQTKELEEKVAELHKTHRGLSPAQADSQFLENAKRLSMYGVDLHHAKDSEGV
DIKLGVCANGLLIYKDRLRINRFAWPKILKISYKRSNFYIKVRPAELEQFESTIGFKLPNHRAAKRLWKVCVEHHTFYRLVSPEQPPKAK
FLTLGSKFRYSGRTQAQTRQASTLIDRPAPHFERTSSKRVSRSLDGAPIGVMDQSLMKDFPGAAGEISAYGPGLVSIAVVQDGDGRREVR
SPTKAPHLQLIEGKPPVVKTEMVTISDASQRTEISTKEVPIVQTETKTITYESPQIDGGAGGDSGTLLTAQTITSESVSTTTTTHITKTV

--------------------------------------------------------------
>43851_43851_3_LAMA2-EPB41L2_LAMA2_chr6_129419560_ENST00000421865_EPB41L2_chr6_131230003_ENST00000528282_length(transcript)=3379nt_BP=688nt
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGATGCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTC
CGGAGGCCTCGGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCT
GAATCTTGCTTCTAATGCTCTTATCACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCC
TGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCTGCAATCAAAACAGCAGCAATCCAAACCAGAGACACCCGATTACAAATGCTATTGA
TGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTACCCTGGATTTACAGCAGGTGTT
CCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAA
GCCCTGGCAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCCCCGCACTGGGCCACCGTCATATGCCAAAGA
TGATGAGGTCATCTGCACTTCATTTTACTCCAAGATACACCCCTTAGAAAATGGAGAGAACTGGTTAGATCCTGCTAAAGAAATAAAGAG
ACAACTGAGAAACCTTCCATGGCTATTCACTTTTAATGTGAAGTTTTATCCTCCTGATCCTTCTCAATTGACTGAAGATATCACCAGATA
CTTCTTGTGCCTTCAGCTCCGGCAGGACATTGCCTCTGGCCGCCTGCCCTGCTCTTTTGTGACTCATGCTCTCCTGGGATCCTACACCCT
GCAGGCTGAACTTGGTGACTATGACCCAGAAGAACATGGCAGCATCGACCTCAGTGAATTCCAGTTTGCCCCTACTCAGACTAAGGAGCT
GGAAGAGAAGGTGGCAGAGCTGCACAAAACCCACAGGGGCTTATCGCCAGCACAAGCTGATTCCCAGTTCTTAGAAAATGCAAAGAGGCT
TTCCATGTATGGTGTTGACCTACATCATGCCAAGGACTCAGAAGGTGTGGACATCAAGCTGGGCGTGTGTGCTAATGGACTTCTCATTTA
CAAAGACAGACTGCGAATCAATCGTTTTGCTTGGCCGAAAATCTTAAAAATTTCCTATAAACGCAGTAACTTCTACATTAAAGTCAGACC
GGCAGAGCTGGAACAGTTTGAGAGTACCATTGGATTCAAACTGCCAAACCACCGGGCAGCGAAAAGACTATGGAAAGTGTGCGTGGAGCA
TCATACTTTCTACAGGCTTGTTTCTCCAGAGCAGCCACCAAAAGCCAAGTTCCTGACCTTGGGGTCCAAATTTCGCTATAGTGGCCGCAC
CCAAGCACAGACCCGCCAGGCCAGCACCCTCATAGATAGGCCAGCACCACACTTTGAGCGCACTTCTAGTAAACGGGTCTCCAGGAGTCT
AGATGGAGCTCCGATTGGTGTCATGGACCAAAGTCTTATGAAGGATTTTCCTGGCGCTGCTGGGGAGATTTCAGCCTATGGACCTGGACT
TGTCAGCATTGCCGTGGTACAAGATGGGGACGGCAGGAGGGAAGTGAGAAGCCCAACTAAAGCCCCACATTTGCAGCTCATTGAAGGAAA
GCCACCAGTGGTAAAAACAGAGATGGTAACAATTTCTGATGCCTCACAAAGGACAGAAATCTCCACCAAGGAAGTCCCCATTGTCCAAAC
TGAGACCAAAACCATCACATATGAGTCTCCACAGATTGATGGCGGGGCTGGTGGTGATTCGGGCACGTTACTGACCGCACAAACCATCAC
ATCTGAGTCCGTGTCAACAACGACAACCACACACATCACCAAGACTGTAAAAGGTGGAATTTCTGAAACAAGAATTGAGAAACGCATTGT
GATCACAGGAGATGGAGATATTGATCATGACCAGGCACTGGCTCAGGCGATCAGGGAAGCCAGAGAGCAGCACCCTGACATGTCGGTCAC
AAGAGTGGTGGTACACAAAGAAACAGAGTTGGCTGAGGAAGGGGAAGATTAAGTAAGAAAGTCATTTTTTAAACAACACTCAACTTTGTG
AACCCCTGAAGATTTTTTGACCGTTCCAAGTCTTAATGCCACACCACTATTCCAGCGAATTTATGCTACAACTGGTAACAATGACCAGAA
GCCTGAAGAATTAAAATGCCAACACCAAACCTTTCCTTACCAGCTCTGGTCTATATTGCTCCCATGCATTTAATATATTATTTTGTTTTA
TAACCACTTCTAAATATTCTCAGTTCTTTCTTTTTGTTGTTGTTAATTAAGGGGTTTTGGTTTTGTTTTCTGTTTACTTTGTGTGCAACT
ACCTGCTTTTAATGACTCACTTTGATCAAATGACAGTGAACAAAGCCAGCCCAAGCTGGTAAGGTGCTGTTCACTTGAACAGGTGCTGTT
GCGCAGAAAGGAAACTCTGTGACTAATTTAGATAGTGGCTTTCCTTCTTCTGGATTCTTTTCATTGAATTCTCACAGTAAATATTTACGG
AGTTTTCAAATTGCAGCAAATATACTGTATGAGAAAATATTAATACAGATTAAAAGCCTTTCTTACATCTTGAAAATTTTCTAATATTTG
AGAATTTCACAGGGATGTTTTTTATATTGGACCCTTTTGACTTTCCAGTCCTGTGACTTTCTACTTTTAGTAGAGAGTCAGAATCTCTGG
ACTGGAGAATAATGAAGAAGTTCACTGACTGTGCACTGTGCTTAGAGACCCTGCCGCACCACAGTGCCAATGCTTGTCAGACACATGCCC
TTCGGCAGCATTCCAGAACAGGAGGGAAGAGAAAGAGAAAACTTTCTTCCCTTCTACTAAAAGATTCAGGCAGCTTAAAACCTTAGTGCT
TTCTTTCTTAACATACCCACATTTCAATTCTTTCCATTATTTGAACACTTGGGTAGAACTCTTGCTTTGTATTAAACCTCTTTGTCTACA
CATGTAAAACTTACCTTTTGTTATTGAGCAGGCCTATCTCTTTCAGATAGTTTTATGATTCACACAGGTTTGAGGATGCTGGGGAGAGGG
GGAGGGGGCTGTGGTGGTGTTCTGTTGGTTACAAGAAAGTTATACCATTTAAAGCTGGCACCAGAGACCCGATAGGGACTTATTAACTAT
ATTGAACATTTTTTCCTTTGCCTTTGACCCTATGTATAGTTACGATGCCAGATTAGATTTATAGCAGCCTCAAGTTGTATTAAATGATAT

>43851_43851_3_LAMA2-EPB41L2_LAMA2_chr6_129419560_ENST00000421865_EPB41L2_chr6_131230003_ENST00000528282_length(amino acids)=690AA_BP=213
MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLVEHVPGQPVRNPQCRICNQNS
SNPNQRHPITNAIDGKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLY
NIYPRTGPPSYAKDDEVICTSFYSKIHPLENGENWLDPAKEIKRQLRNLPWLFTFNVKFYPPDPSQLTEDITRYFLCLQLRQDIASGRLP
CSFVTHALLGSYTLQAELGDYDPEEHGSIDLSEFQFAPTQTKELEEKVAELHKTHRGLSPAQADSQFLENAKRLSMYGVDLHHAKDSEGV
DIKLGVCANGLLIYKDRLRINRFAWPKILKISYKRSNFYIKVRPAELEQFESTIGFKLPNHRAAKRLWKVCVEHHTFYRLVSPEQPPKAK
FLTLGSKFRYSGRTQAQTRQASTLIDRPAPHFERTSSKRVSRSLDGAPIGVMDQSLMKDFPGAAGEISAYGPGLVSIAVVQDGDGRREVR
SPTKAPHLQLIEGKPPVVKTEMVTISDASQRTEISTKEVPIVQTETKTITYESPQIDGGAGGDSGTLLTAQTITSESVSTTTTTHITKTV

--------------------------------------------------------------
>43851_43851_4_LAMA2-EPB41L2_LAMA2_chr6_129419560_ENST00000421865_EPB41L2_chr6_131230003_ENST00000530481_length(transcript)=3694nt_BP=688nt
CAGCGACTCCTCTGGCTCCCGAGAAGTGGATCCGGTCGCGGCCACTACGATGCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTC
CGGAGGCCTCGGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAGCAAAGAGGTTTATTCCCTGCTGTCCT
GAATCTTGCTTCTAATGCTCTTATCACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTAGAACATGTCCC
TGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCTGCAATCAAAACAGCAGCAATCCAAACCAGAGACACCCGATTACAAATGCTATTGA
TGGAAAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTACCCTGGATTTACAGCAGGTGTT
CCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAA
GCCCTGGCAGTATCATGCTGTGACAGACACGGAGTGCCTAACGCTTTACAATATTTATCCCCGCACTGGGCCACCGTCATATGCCAAAGA
TGATGAGGTCATCTGCACTTCATTTTACTCCAAGATACACCCCTTAGAAAATGGAGAGAACTGGTTAGATCCTGCTAAAGAAATAAAGAG
ACAACTGAGAAACCTTCCATGGCTATTCACTTTTAATGTGAAGTTTTATCCTCCTGATCCTTCTCAATTGACTGAAGATATCACCAGATA
CTTCTTGTGCCTTCAGCTCCGGCAGGACATTGCCTCTGGCCGCCTGCCCTGCTCTTTTGTGACTCATGCTCTCCTGGGATCCTACACCCT
GCAGGCTGAACTTGGTGACTATGACCCAGAAGAACATGGCAGCATCGACCTCAGTGAATTCCAGTTTGCCCCTACTCAGACTAAGGAGCT
GGAAGAGAAGGTGGCAGAGCTGCACAAAACCCACAGGGGCTTATCGCCAGCACAAGCTGATTCCCAGTTCTTAGAAAATGCAAAGAGGCT
TTCCATGTATGGTGTTGACCTACATCATGCCAAGGACTCAGAAGGTGTGGACATCAAGCTGGGCGTGTGTGCTAATGGACTTCTCATTTA
CAAAGACAGACTGCGAATCAATCGTTTTGCTTGGCCGAAAATCTTAAAAATTTCCTATAAACGCAGTAACTTCTACATTAAAGTCAGACC
GGCAGAGCTGGAACAGTTTGAGAGTACCATTGGATTCAAACTGCCAAACCACCGGGCAGCGAAAAGACTATGGAAAGTGTGCGTGGAGCA
TCATACTTTCTACAGGCTTGTTTCTCCAGAGCAGCCACCAAAAGCCAAGTTCCTGACCTTGGGGTCCAAATTTCGCTATAGTGGCCGCAC
CCAAGCACAGACCCGCCAGGCCAGCACCCTCATAGATAGGCCAGCACCACACTTTGAGCGCACTTCTAGTAAACGGGTCTCCAGGAGTCT
AGATGGAGCTCCGATTGGTGTCATGGACCAAAGTCTTATGAAGGATTTTCCTGGCGCTGCTGGGGAGATTTCAGCCTATGGACCTGGACT
TGTCAGCATTGCCGTGGTACAAGATGGGGACGGCAGGAGGGAAGTGAGAAGCCCAACTAAAGCCCCACATTTGCAGCTCATTGAAGGAAA
GAGTTCACATGAGACTCTGAATATAGTGGAGGAGAAGAAGCGGGCAGAGGTTGGGAAAGACGAAAGAGTAATCACAGAAGAAATGAATGG
TAAAGAGATATCACCTGGGAGTGGTCCTGGGGAGATTCGTAAGGTGGAGCCTGTGACACAAAAAGACTCCACCTCCCTGTCTTCTGAGAG
CAGCAGCAGCAGCAGTGAGAGTGAGGAGGAAGACGTGGGAGAGTACCGTCCCCACCACCGAGTGACCGAGGGCACCATCAGGGAGGAACA
GGAGTATGAAGAAGAGGTGGAGGAAGAACCCCGCCCGGCAGCCAAGCCACCAGTGGTAAAAACAGAGATGGTAACAATTTCTGATGCCTC
ACAAAGGACAGAAATCTCCACCAAGGAAGTCCCCATTGTCCAAACTGAGACCAAAACCATCACATATGAGTCTCCACAGATTGATGGCGG
GGCTGGTGGTGATTCGGGCACGTTACTGACCGCACAAACCATCACATCTGAGTCCGTGTCAACAACGACAACCACACACATCACCAAGAC
TGTAAAAGGTGGAATTTCTGAAACAAGAATTGAGAAACGCATTGTGATCACAGGAGATGGAGATATTGATCATGACCAGGCACTGGCTCA
GGCGATCAGGGAAGCCAGAGAGCAGCACCCTGACATGTCGGTCACAAGAGTGGTGGTACACAAAGAAACAGAGTTGGCTGAGGAAGGGGA
AGATTAAGTAAGAAAGTCATTTTTTAAACAACACTCAACTTTGTGAACCCCTGAAGATTTTTTGACCGTTCCAAGTCTTAATGCCACACC
ACTATTCCAGCGAATTTATGCTACAACTGGTAACAATGACCAGAAGCCTGAAGAATTAAAATGCCAACACCAAACCTTTCCTTACCAGCT
CTGGTCTATATTGCTCCCATGCATTTAATATATTATTTTGTTTTATAACCACTTCTAAATATTCTCAGTTCTTTCTTTTTGTTGTTGTTA
ATTAAGGGGTTTTGGTTTTGTTTTCTGTTTACTTTGTGTGCAACTACCTGCTTTTAATGACTCACTTTGATCAAATGACAGTGAACAAAG
CCAGCCCAAGCTGGTAAGGTGCTGTTCACTTGAACAGGTGCTGTTGCGCAGAAAGGAAACTCTGTGACTAATTTAGATAGTGGCTTTCCT
TCTTCTGGATTCTTTTCATTGAATTCTCACAGTAAATATTTACGGAGTTTTCAAATTGCAGCAAATATACTGTATGAGAAAATATTAATA
CAGATTAAAAGCCTTTCTTACATCTTGAAAATTTTCTAATATTTGAGAATTTCACAGGGATGTTTTTTATATTGGACCCTTTTGACTTTC
CAGTCCTGTGACTTTCTACTTTTAGTAGAGAGTCAGAATCTCTGGACTGGAGAATAATGAAGAAGTTCACTGACTGTGCACTGTGCTTAG
AGACCCTGCCGCACCACAGTGCCAATGCTTGTCAGACACATGCCCTTCGGCAGCATTCCAGAACAGGAGGGAAGAGAAAGAGAAAACTTT
CTTCCCTTCTACTAAAAGATTCAGGCAGCTTAAAACCTTAGTGCTTTCTTTCTTAACATACCCACATTTCAATTCTTTCCATTATTTGAA
CACTTGGGTAGAACTCTTGCTTTGTATTAAACCTCTTTGTCTACACATGTAAAACTTACCTTTTGTTATTGAGCAGGCCTATCTCTTTCA
GATAGTTTTATGATTCACACAGGTTTGAGGATGCTGGGGAGAGGGGGAGGGGGCTGTGGTGGTGTTCTGTTGGTTACAAGAAAGTTATAC
CATTTAAAGCTGGCACCAGAGACCCGATAGGGACTTATTAACTATATTGAACATTTTTTCCTTTGCCTTTGACCCTATGTATAGTTACGA
TGCCAGATTAGATTTATAGCAGCCTCAAGTTGTATTAAATGATATTTTGCTTCCTGTAATACTATTATAAAATAAAGTTTGTTTATTCTC

>43851_43851_4_LAMA2-EPB41L2_LAMA2_chr6_129419560_ENST00000421865_EPB41L2_chr6_131230003_ENST00000530481_length(amino acids)=795AA_BP=213
MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLVEHVPGQPVRNPQCRICNQNS
SNPNQRHPITNAIDGKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLY
NIYPRTGPPSYAKDDEVICTSFYSKIHPLENGENWLDPAKEIKRQLRNLPWLFTFNVKFYPPDPSQLTEDITRYFLCLQLRQDIASGRLP
CSFVTHALLGSYTLQAELGDYDPEEHGSIDLSEFQFAPTQTKELEEKVAELHKTHRGLSPAQADSQFLENAKRLSMYGVDLHHAKDSEGV
DIKLGVCANGLLIYKDRLRINRFAWPKILKISYKRSNFYIKVRPAELEQFESTIGFKLPNHRAAKRLWKVCVEHHTFYRLVSPEQPPKAK
FLTLGSKFRYSGRTQAQTRQASTLIDRPAPHFERTSSKRVSRSLDGAPIGVMDQSLMKDFPGAAGEISAYGPGLVSIAVVQDGDGRREVR
SPTKAPHLQLIEGKSSHETLNIVEEKKRAEVGKDERVITEEMNGKEISPGSGPGEIRKVEPVTQKDSTSLSSESSSSSSESEEEDVGEYR
PHHRVTEGTIREEQEYEEEVEEEPRPAAKPPVVKTEMVTISDASQRTEISTKEVPIVQTETKTITYESPQIDGGAGGDSGTLLTAQTITS

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

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Fusion Gene PPI Analysis for LAMA2-EPB41L2


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 LAMA2-EPB41L2


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 LAMA2-EPB41L2


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