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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:SFTPB-DMTN (FusionGDB2 ID:81185)

Fusion Gene Summary for SFTPB-DMTN

check button Fusion gene summary
Fusion gene informationFusion gene name: SFTPB-DMTN
Fusion gene ID: 81185
HgeneTgene
Gene symbol

SFTPB

DMTN

Gene ID

6439

2039

Gene namesurfactant protein Bdematin actin binding protein
SynonymsPSP-B|SFTB3|SFTP3|SMDP1|SP-BDMT|EPB49
Cytomap

2p11.2

8p21.3

Type of geneprotein-codingprotein-coding
Descriptionpulmonary surfactant-associated protein B18 kDa pulmonary-surfactant protein6 kDa proteinpulmonary surfactant-associated proteolipid SPL(Phe)dematinerythrocyte membrane protein band 4.9 (dematin)
Modification date2020031320200313
UniProtAcc.

Q08495

Ensembl transtripts involved in fusion geneENST00000342375, ENST00000393822, 
ENST00000409383, ENST00000519937, 
ENST00000265800, ENST00000358242, 
ENST00000381470, ENST00000415253, 
ENST00000432128, ENST00000443491, 
ENST00000517600, ENST00000519907, 
ENST00000523266, ENST00000523782, 
Fusion gene scores* DoF score23 X 22 X 3=15183 X 3 X 3=27
# samples 273
** MAII scorelog2(27/1518*10)=-2.49114047836464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SFTPB [Title/Abstract] AND DMTN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSFTPB(85892729)-DMTN(21925038), # samples:1
Anticipated loss of major functional domain due to fusion event.SFTPB-DMTN seems lost the major protein functional domain in Tgene 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
TgeneDMTN

GO:0032956

regulation of actin cytoskeleton organization

22927433

TgeneDMTN

GO:0065003

protein-containing complex assembly

18347014

TgeneDMTN

GO:0071320

cellular response to cAMP

22927433


check buttonFusion gene breakpoints across SFTPB (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 DMTN (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
ChimerDB4LUADTCGA-78-7148-01ASFTPBchr2

85892729

-DMTNchr8

21925038

+


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Fusion Gene ORF analysis for SFTPB-DMTN

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
Frame-shiftENST00000342375ENST00000265800SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000342375ENST00000358242SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000342375ENST00000381470SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000342375ENST00000415253SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000342375ENST00000432128SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000342375ENST00000443491SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000342375ENST00000517600SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000342375ENST00000519907SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000342375ENST00000523266SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000342375ENST00000523782SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000265800SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000358242SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000381470SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000415253SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000432128SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000443491SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000517600SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000519907SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000523266SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000393822ENST00000523782SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000265800SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000358242SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000381470SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000415253SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000432128SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000443491SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000517600SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000519907SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000523266SFTPBchr2

85892729

-DMTNchr8

21925038

+
Frame-shiftENST00000409383ENST00000523782SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000265800SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000358242SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000381470SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000415253SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000432128SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000443491SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000517600SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000519907SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000523266SFTPBchr2

85892729

-DMTNchr8

21925038

+
In-frameENST00000519937ENST00000523782SFTPBchr2

85892729

-DMTNchr8

21925038

+

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)
ENST00000519937SFTPBchr285892729-ENST00000381470DMTNchr821925038+2722602201660546
ENST00000519937SFTPBchr285892729-ENST00000432128DMTNchr821925038+2788602201726568
ENST00000519937SFTPBchr285892729-ENST00000443491DMTNchr821925038+2722602201660546
ENST00000519937SFTPBchr285892729-ENST00000517600DMTNchr821925038+1905602201681553
ENST00000519937SFTPBchr285892729-ENST00000523782DMTNchr821925038+2716602201660546
ENST00000519937SFTPBchr285892729-ENST00000265800DMTNchr821925038+2791602201726568
ENST00000519937SFTPBchr285892729-ENST00000415253DMTNchr821925038+2722602201660546
ENST00000519937SFTPBchr285892729-ENST00000358242DMTNchr821925038+2788602201726568
ENST00000519937SFTPBchr285892729-ENST00000523266DMTNchr821925038+2782602201726568
ENST00000519937SFTPBchr285892729-ENST00000519907DMTNchr821925038+2722602201660546

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
ENST00000519937ENST00000381470SFTPBchr285892729-DMTNchr821925038+0.0194117320.98058826
ENST00000519937ENST00000432128SFTPBchr285892729-DMTNchr821925038+0.0215595270.9784405
ENST00000519937ENST00000443491SFTPBchr285892729-DMTNchr821925038+0.0194117320.98058826
ENST00000519937ENST00000517600SFTPBchr285892729-DMTNchr821925038+0.0286988410.9713011
ENST00000519937ENST00000523782SFTPBchr285892729-DMTNchr821925038+0.0199973040.98000264
ENST00000519937ENST00000265800SFTPBchr285892729-DMTNchr821925038+0.0220628940.97793716
ENST00000519937ENST00000415253SFTPBchr285892729-DMTNchr821925038+0.0194117320.98058826
ENST00000519937ENST00000358242SFTPBchr285892729-DMTNchr821925038+0.0215595270.9784405
ENST00000519937ENST00000523266SFTPBchr285892729-DMTNchr821925038+0.023206490.9767935
ENST00000519937ENST00000519907SFTPBchr285892729-DMTNchr821925038+0.0194117320.98058826

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Fusion Genomic Features for SFTPB-DMTN


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)
SFTPBchr285892728-DMTNchr821925037+3.02E-060.999997
SFTPBchr285892728-DMTNchr821925037+3.02E-060.999997

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.
genomic feature of top 1%

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Fusion Protein Features for SFTPB-DMTN


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/chr2:85892729/chr8:21925038)
- 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
.DMTN

Q08495

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading, motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation. {ECO:0000269|PubMed:10565303, ECO:0000269|PubMed:11856323, ECO:0000269|PubMed:18347014, ECO:0000269|PubMed:19241372, ECO:0000269|PubMed:22927433, ECO:0000269|PubMed:23355471}.

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
HgeneSFTPBchr2:85892729chr8:21925038ENST00000342375-61225_651941129.3333333333333DomainSaposin A-type
HgeneSFTPBchr2:85892729chr8:21925038ENST00000342375-61265_1471941129.3333333333333DomainSaposin B-type 1
HgeneSFTPBchr2:85892729chr8:21925038ENST00000519937-51125_651941127.3333333333333DomainSaposin A-type
HgeneSFTPBchr2:85892729chr8:21925038ENST00000519937-51165_1471941127.3333333333333DomainSaposin B-type 1
TgeneDMTNchr2:85892729chr8:21925038ENST00000265800216216_22231406.0Compositional biasNote=Poly-Glu
TgeneDMTNchr2:85892729chr8:21925038ENST00000358242216216_22231406.0Compositional biasNote=Poly-Glu
TgeneDMTNchr2:85892729chr8:21925038ENST00000381470215216_22231384.0Compositional biasNote=Poly-Glu
TgeneDMTNchr2:85892729chr8:21925038ENST00000415253215216_22231384.0Compositional biasNote=Poly-Glu
TgeneDMTNchr2:85892729chr8:21925038ENST00000432128216216_22231406.0Compositional biasNote=Poly-Glu
TgeneDMTNchr2:85892729chr8:21925038ENST00000443491114216_2226359.0Compositional biasNote=Poly-Glu
TgeneDMTNchr2:85892729chr8:21925038ENST00000519907215216_22231384.0Compositional biasNote=Poly-Glu
TgeneDMTNchr2:85892729chr8:21925038ENST00000523266216216_22231406.0Compositional biasNote=Poly-Glu
TgeneDMTNchr2:85892729chr8:21925038ENST00000523782114216_2226359.0Compositional biasNote=Poly-Glu
TgeneDMTNchr2:85892729chr8:21925038ENST00000265800216337_40531406.0DomainHP
TgeneDMTNchr2:85892729chr8:21925038ENST00000358242216337_40531406.0DomainHP
TgeneDMTNchr2:85892729chr8:21925038ENST00000381470215337_40531384.0DomainHP
TgeneDMTNchr2:85892729chr8:21925038ENST00000415253215337_40531384.0DomainHP
TgeneDMTNchr2:85892729chr8:21925038ENST00000432128216337_40531406.0DomainHP
TgeneDMTNchr2:85892729chr8:21925038ENST00000443491114337_4056359.0DomainHP
TgeneDMTNchr2:85892729chr8:21925038ENST00000519907215337_40531384.0DomainHP
TgeneDMTNchr2:85892729chr8:21925038ENST00000523266216337_40531406.0DomainHP
TgeneDMTNchr2:85892729chr8:21925038ENST00000523782114337_4056359.0DomainHP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSFTPBchr2:85892729chr8:21925038ENST00000342375-612204_2811941129.3333333333333DomainSaposin B-type 2
HgeneSFTPBchr2:85892729chr8:21925038ENST00000342375-612295_3701941129.3333333333333DomainSaposin B-type 3
HgeneSFTPBchr2:85892729chr8:21925038ENST00000519937-511204_2811941127.3333333333333DomainSaposin B-type 2
HgeneSFTPBchr2:85892729chr8:21925038ENST00000519937-511295_3701941127.3333333333333DomainSaposin B-type 3


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Fusion Gene Sequence for SFTPB-DMTN


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.
>81185_81185_1_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000265800_length(transcript)=2791nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGCGCTCGCTGTCACCCAAATCCACATCCCCCCCACCATCCCCAGAGGTGTGGG
CGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCAGAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACC
CTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCATCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGC
ACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAGCCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACT
ACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGAGGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGG
AGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGCGTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGA
TGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGAAAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGC
ACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGACCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGA
GTGAGACTGGAAGCCCAGGCCTGCAGAACGGAGAGGGCCAGAGGGGGAGGATGGACCGGGGGAACTCCCTGCCCTGTGTGCTGGAGCAGA
AGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAACCAAGCTGCCACCGGGGGTGGATCGGATGCGGCTTGAGAGGCATC
TGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAGAGTTTGGCAAGCTGGCTCTGTGGAAGCGGAATGAGCTCAAGAAGA
AGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCCCTTACCCCTGCTGCTTCAGGGTTTTTCCCCGGCGGGTTGGGAGGG
GCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAGAGTGGGGGGCCAAAACCTCTGCAGTCCCCGGCAGTGAGCTATGGA
CTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCTGGCCCTCCCTGCACAGGGCAAAGCCAGTCTGGGCTCTGGCACACA
GAGTTCATGTTTGCGCCCTCTCCCTGCCCCTCACCCCAGAGGGTGAGGAGGAATGAGGGGCATTGGTGGTTAGGCCGGTTGGCTGTCTTG
AACAGCTGGAGGGAAGATGCAGGGGTGGGAAGCGGCCAGGCAGAAAGAGCTCCAGGCTCTTGTGTCGCCCACCCAGCCCTCCCATACTCA
CTCCTGACAGCTTTCCTGCACTGCAGCCTCCTGCTCCTCTGACTCTAGTGGGAACAGGCCCCAGCTCAGCCTCCGGCAGGGAGGTCACCC
CTCCACTTCAGCTTGCCCTGACCTCCGCTCGCAAACCCCGAGCTTCCAAGCCTTTTGCTCCAGCCCTGCGGCTTCCCCAGAAGCCTGGGC
TTAGGGTGGAGATGCCGCCTACACACGATCCTGGCCCTCCACCTGCCTCCAGGCCACGAAATGGGAATTCCAGCACTAAGCCAGGCACCG
GGCAGAAGCTGGGCCTTCCGCCTCCCTTGGATGGGGTCAAGAGGCCAGGCCTGGCACATTTTGGAGTGTCCTGGCTACCAGCTCTCACCT
ACACCCACGCACCCCCCCACACACTATGCTCTCTCAAGAATGTAATTTATTGGGGCCCCCCCAGCTGCTTTCCTCACCTGCCCCTGCCCT
ACCTTACACCCCCAGCTTGACTTCTTTCCAGTCCACGTGTGTATATAATGATATCTATATTTTTGCCCAGGTCTGGGTATTGCTCCTGCC
CAGACCCTGACATCCCTTTCCACTGTGTGTGTGACCATGCTGGGGGAGGGGGACTCTGCTTGGAATTAAAAGGTTGCATTGGGTCCCTAC

>81185_81185_1_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000265800_length(amino acids)=568AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWADSRSPG
IISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPS
LAVVETEWRKRKASRRGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKS
SSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQNGEGQRGRMDRGNSLPCVLEQKIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFS

--------------------------------------------------------------
>81185_81185_2_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000358242_length(transcript)=2788nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGCGCTCGCTGTCACCCAAATCCACATCCCCCCCACCATCCCCAGAGGTGTGGG
CGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCAGAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACC
CTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCATCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGC
ACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAGCCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACT
ACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGAGGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGG
AGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGCGTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGA
TGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGAAAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGC
ACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGACCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGA
GTGAGACTGGAAGCCCAGGTCTCCAGAACGGAGAGGGCCAGAGGGGGAGGATGGACCGGGGGAACTCCCTGCCCTGTGTGCTGGAGCAGA
AGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAACCAAGCTGCCACCGGGGGTGGATCGGATGCGGCTTGAGAGGCATC
TGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAGAGTTTGGCAAGCTGGCTCTGTGGAAGCGGAATGAGCTCAAGAAGA
AGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCCCTTACCCCTGCTGCTTCAGGGTTTTTCCCCGGCGGGTTGGGAGGG
GCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAGAGTGGGGGGCCAAAACCTCTGCAGTCCCCGGCAGTGAGCTATGGA
CTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCTGGCCCTCCCTGCACAGGGCAAAGCCAGTCTGGGCTCTGGCACACA
GAGTTCATGTTTGCGCCCTCTCCCTGCCCCTCACCCCAGAGGGTGAGGAGGAATGAGGGGCATTGGTGGTTAGGCCGGTTGGCTGTCTTG
AACAGCTGGAGGGAAGATGCAGGGGTGGGAAGCGGCCAGGCAGAAAGAGCTCCAGGCTCTTGTGTCGCCCACCCAGCCCTCCCATACTCA
CTCCTGACAGCTTTCCTGCACTGCAGCCTCCTGCTCCTCTGACTCTAGTGGGAACAGGCCCCAGCTCAGCCTCCGGCAGGGAGGTCACCC
CTCCACTTCAGCTTGCCCTGACCTCCGCTCGCAAACCCCGAGCTTCCAAGCCTTTTGCTCCAGCCCTGCGGCTTCCCCAGAAGCCTGGGC
TTAGGGTGGAGATGCCGCCTACACACGATCCTGGCCCTCCACCTGCCTCCAGGCCACGAAATGGGAATTCCAGCACTAAGCCAGGCACCG
GGCAGAAGCTGGGCCTTCCGCCTCCCTTGGATGGGGTCAAGAGGCCAGGCCTGGCACATTTTGGAGTGTCCTGGCTACCAGCTCTCACCT
ACACCCACGCACCCCCCCACACACTATGCTCTCTCAAGAATGTAATTTATTGGGGCCCCCCCAGCTGCTTTCCTCACCTGCCCCTGCCCT
ACCTTACACCCCCAGCTTGACTTCTTTCCAGTCCACGTGTGTATATAATGATATCTATATTTTTGCCCAGGTCTGGGTATTGCTCCTGCC

>81185_81185_2_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000358242_length(amino acids)=568AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWADSRSPG
IISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPS
LAVVETEWRKRKASRRGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKS
SSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQNGEGQRGRMDRGNSLPCVLEQKIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFS

--------------------------------------------------------------
>81185_81185_3_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000381470_length(transcript)=2722nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGCGCTCGCTGTCACCCAAATCCACATCCCCCCCACCATCCCCAGAGGTGTGGG
CGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCAGAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACC
CTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCATCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGC
ACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAGCCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACT
ACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGAGGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGG
AGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGCGTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGA
TGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGAAAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGC
ACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGACCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGA
GTGAGACTGGAAGCCCAGGCCTGCAGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAACCAAGCTGCCACCGGGGGTGG
ATCGGATGCGGCTTGAGAGGCATCTGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAGAGTTTGGCAAGCTGGCTCTGT
GGAAGCGGAATGAGCTCAAGAAGAAGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCCCTTACCCCTGCTGCTTCAGGG
TTTTTCCCCGGCGGGTTGGGAGGGGCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAGAGTGGGGGGCCAAAACCTCTG
CAGTCCCCGGCAGTGAGCTATGGACTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCTGGCCCTCCCTGCACAGGGCAA
AGCCAGTCTGGGCTCTGGCACACAGAGTTCATGTTTGCGCCCTCTCCCTGCCCCTCACCCCAGAGGGTGAGGAGGAATGAGGGGCATTGG
TGGTTAGGCCGGTTGGCTGTCTTGAACAGCTGGAGGGAAGATGCAGGGGTGGGAAGCGGCCAGGCAGAAAGAGCTCCAGGCTCTTGTGTC
GCCCACCCAGCCCTCCCATACTCACTCCTGACAGCTTTCCTGCACTGCAGCCTCCTGCTCCTCTGACTCTAGTGGGAACAGGCCCCAGCT
CAGCCTCCGGCAGGGAGGTCACCCCTCCACTTCAGCTTGCCCTGACCTCCGCTCGCAAACCCCGAGCTTCCAAGCCTTTTGCTCCAGCCC
TGCGGCTTCCCCAGAAGCCTGGGCTTAGGGTGGAGATGCCGCCTACACACGATCCTGGCCCTCCACCTGCCTCCAGGCCACGAAATGGGA
ATTCCAGCACTAAGCCAGGCACCGGGCAGAAGCTGGGCCTTCCGCCTCCCTTGGATGGGGTCAAGAGGCCAGGCCTGGCACATTTTGGAG
TGTCCTGGCTACCAGCTCTCACCTACACCCACGCACCCCCCCACACACTATGCTCTCTCAAGAATGTAATTTATTGGGGCCCCCCCAGCT
GCTTTCCTCACCTGCCCCTGCCCTACCTTACACCCCCAGCTTGACTTCTTTCCAGTCCACGTGTGTATATAATGATATCTATATTTTTGC
CCAGGTCTGGGTATTGCTCCTGCCCAGACCCTGACATCCCTTTCCACTGTGTGTGTGACCATGCTGGGGGAGGGGGACTCTGCTTGGAAT

>81185_81185_3_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000381470_length(amino acids)=546AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWADSRSPG
IISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPS
LAVVETEWRKRKASRRGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKS
SSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFSRVFAMSPEEFGKLALWKRNELK

--------------------------------------------------------------
>81185_81185_4_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000415253_length(transcript)=2722nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGCGCTCGCTGTCACCCAAATCCACATCCCCCCCACCATCCCCAGAGGTGTGGG
CGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCAGAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACC
CTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCATCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGC
ACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAGCCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACT
ACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGAGGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGG
AGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGCGTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGA
TGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGAAAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGC
ACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGACCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGA
GTGAGACTGGAAGCCCAGGCCTGCAGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAACCAAGCTGCCACCGGGGGTGG
ATCGGATGCGGCTTGAGAGGCATCTGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAGAGTTTGGCAAGCTGGCTCTGT
GGAAGCGGAATGAGCTCAAGAAGAAGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCCCTTACCCCTGCTGCTTCAGGG
TTTTTCCCCGGCGGGTTGGGAGGGGCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAGAGTGGGGGGCCAAAACCTCTG
CAGTCCCCGGCAGTGAGCTATGGACTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCTGGCCCTCCCTGCACAGGGCAA
AGCCAGTCTGGGCTCTGGCACACAGAGTTCATGTTTGCGCCCTCTCCCTGCCCCTCACCCCAGAGGGTGAGGAGGAATGAGGGGCATTGG
TGGTTAGGCCGGTTGGCTGTCTTGAACAGCTGGAGGGAAGATGCAGGGGTGGGAAGCGGCCAGGCAGAAAGAGCTCCAGGCTCTTGTGTC
GCCCACCCAGCCCTCCCATACTCACTCCTGACAGCTTTCCTGCACTGCAGCCTCCTGCTCCTCTGACTCTAGTGGGAACAGGCCCCAGCT
CAGCCTCCGGCAGGGAGGTCACCCCTCCACTTCAGCTTGCCCTGACCTCCGCTCGCAAACCCCGAGCTTCCAAGCCTTTTGCTCCAGCCC
TGCGGCTTCCCCAGAAGCCTGGGCTTAGGGTGGAGATGCCGCCTACACACGATCCTGGCCCTCCACCTGCCTCCAGGCCACGAAATGGGA
ATTCCAGCACTAAGCCAGGCACCGGGCAGAAGCTGGGCCTTCCGCCTCCCTTGGATGGGGTCAAGAGGCCAGGCCTGGCACATTTTGGAG
TGTCCTGGCTACCAGCTCTCACCTACACCCACGCACCCCCCCACACACTATGCTCTCTCAAGAATGTAATTTATTGGGGCCCCCCCAGCT
GCTTTCCTCACCTGCCCCTGCCCTACCTTACACCCCCAGCTTGACTTCTTTCCAGTCCACGTGTGTATATAATGATATCTATATTTTTGC
CCAGGTCTGGGTATTGCTCCTGCCCAGACCCTGACATCCCTTTCCACTGTGTGTGTGACCATGCTGGGGGAGGGGGACTCTGCTTGGAAT

>81185_81185_4_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000415253_length(amino acids)=546AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWADSRSPG
IISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPS
LAVVETEWRKRKASRRGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKS
SSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFSRVFAMSPEEFGKLALWKRNELK

--------------------------------------------------------------
>81185_81185_5_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000432128_length(transcript)=2788nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGCGCTCGCTGTCACCCAAATCCACATCCCCCCCACCATCCCCAGAGGTGTGGG
CGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCAGAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACC
CTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCATCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGC
ACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAGCCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACT
ACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGAGGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGG
AGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGCGTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGA
TGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGAAAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGC
ACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGACCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGA
GTGAGACTGGAAGCCCAGGTCTCCAGAACGGAGAGGGCCAGAGGGGGAGGATGGACCGGGGGAACTCCCTGCCCTGTGTGCTGGAGCAGA
AGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAACCAAGCTGCCACCGGGGGTGGATCGGATGCGGCTTGAGAGGCATC
TGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAGAGTTTGGCAAGCTGGCTCTGTGGAAGCGGAATGAGCTCAAGAAGA
AGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCCCTTACCCCTGCTGCTTCAGGGTTTTTCCCCGGCGGGTTGGGAGGG
GCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAGAGTGGGGGGCCAAAACCTCTGCAGTCCCCGGCAGTGAGCTATGGA
CTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCTGGCCCTCCCTGCACAGGGCAAAGCCAGTCTGGGCTCTGGCACACA
GAGTTCATGTTTGCGCCCTCTCCCTGCCCCTCACCCCAGAGGGTGAGGAGGAATGAGGGGCATTGGTGGTTAGGCCGGTTGGCTGTCTTG
AACAGCTGGAGGGAAGATGCAGGGGTGGGAAGCGGCCAGGCAGAAAGAGCTCCAGGCTCTTGTGTCGCCCACCCAGCCCTCCCATACTCA
CTCCTGACAGCTTTCCTGCACTGCAGCCTCCTGCTCCTCTGACTCTAGTGGGAACAGGCCCCAGCTCAGCCTCCGGCAGGGAGGTCACCC
CTCCACTTCAGCTTGCCCTGACCTCCGCTCGCAAACCCCGAGCTTCCAAGCCTTTTGCTCCAGCCCTGCGGCTTCCCCAGAAGCCTGGGC
TTAGGGTGGAGATGCCGCCTACACACGATCCTGGCCCTCCACCTGCCTCCAGGCCACGAAATGGGAATTCCAGCACTAAGCCAGGCACCG
GGCAGAAGCTGGGCCTTCCGCCTCCCTTGGATGGGGTCAAGAGGCCAGGCCTGGCACATTTTGGAGTGTCCTGGCTACCAGCTCTCACCT
ACACCCACGCACCCCCCCACACACTATGCTCTCTCAAGAATGTAATTTATTGGGGCCCCCCCAGCTGCTTTCCTCACCTGCCCCTGCCCT
ACCTTACACCCCCAGCTTGACTTCTTTCCAGTCCACGTGTGTATATAATGATATCTATATTTTTGCCCAGGTCTGGGTATTGCTCCTGCC

>81185_81185_5_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000432128_length(amino acids)=568AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWADSRSPG
IISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPS
LAVVETEWRKRKASRRGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKS
SSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQNGEGQRGRMDRGNSLPCVLEQKIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFS

--------------------------------------------------------------
>81185_81185_6_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000443491_length(transcript)=2722nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGCGCTCGCTGTCACCCAAATCCACATCCCCCCCACCATCCCCAGAGGTGTGGG
CGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCAGAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACC
CTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCATCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGC
ACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAGCCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACT
ACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGAGGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGG
AGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGCGTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGA
TGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGAAAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGC
ACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGACCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGA
GTGAGACTGGAAGCCCAGGCCTGCAGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAACCAAGCTGCCACCGGGGGTGG
ATCGGATGCGGCTTGAGAGGCATCTGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAGAGTTTGGCAAGCTGGCTCTGT
GGAAGCGGAATGAGCTCAAGAAGAAGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCCCTTACCCCTGCTGCTTCAGGG
TTTTTCCCCGGCGGGTTGGGAGGGGCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAGAGTGGGGGGCCAAAACCTCTG
CAGTCCCCGGCAGTGAGCTATGGACTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCTGGCCCTCCCTGCACAGGGCAA
AGCCAGTCTGGGCTCTGGCACACAGAGTTCATGTTTGCGCCCTCTCCCTGCCCCTCACCCCAGAGGGTGAGGAGGAATGAGGGGCATTGG
TGGTTAGGCCGGTTGGCTGTCTTGAACAGCTGGAGGGAAGATGCAGGGGTGGGAAGCGGCCAGGCAGAAAGAGCTCCAGGCTCTTGTGTC
GCCCACCCAGCCCTCCCATACTCACTCCTGACAGCTTTCCTGCACTGCAGCCTCCTGCTCCTCTGACTCTAGTGGGAACAGGCCCCAGCT
CAGCCTCCGGCAGGGAGGTCACCCCTCCACTTCAGCTTGCCCTGACCTCCGCTCGCAAACCCCGAGCTTCCAAGCCTTTTGCTCCAGCCC
TGCGGCTTCCCCAGAAGCCTGGGCTTAGGGTGGAGATGCCGCCTACACACGATCCTGGCCCTCCACCTGCCTCCAGGCCACGAAATGGGA
ATTCCAGCACTAAGCCAGGCACCGGGCAGAAGCTGGGCCTTCCGCCTCCCTTGGATGGGGTCAAGAGGCCAGGCCTGGCACATTTTGGAG
TGTCCTGGCTACCAGCTCTCACCTACACCCACGCACCCCCCCACACACTATGCTCTCTCAAGAATGTAATTTATTGGGGCCCCCCCAGCT
GCTTTCCTCACCTGCCCCTGCCCTACCTTACACCCCCAGCTTGACTTCTTTCCAGTCCACGTGTGTATATAATGATATCTATATTTTTGC
CCAGGTCTGGGTATTGCTCCTGCCCAGACCCTGACATCCCTTTCCACTGTGTGTGTGACCATGCTGGGGGAGGGGGACTCTGCTTGGAAT

>81185_81185_6_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000443491_length(amino acids)=546AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWADSRSPG
IISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPS
LAVVETEWRKRKASRRGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKS
SSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFSRVFAMSPEEFGKLALWKRNELK

--------------------------------------------------------------
>81185_81185_7_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000517600_length(transcript)=1905nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGGTGTGGGCGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCA
GAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACCCTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCA
TCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGCACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAG
CCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACTACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGA
GGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGGAGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGC
GTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGATGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGA
AAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGCACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGA
CCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGAGTGAGACTGGAAGCCCAGGCCTGCAGAACGGAGAGGGCCAGAGGG
GGAGGATGGACCGGGGGAACTCCCTGCCCTGTGTGCTGGAGCAGAAGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAA
CCAAGCTGCCACCGGGGGTGGATCGGATGCGGCTTGAGAGGCATCTGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAG
AGTTTGGCAAGCTGGCTCTGTGGAAGCGGAATGAGCTCAAGAAGAAGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCC
CTTACCCCTGCTGCTTCAGGGTTTTTCCCCGGCGGGTTGGGAGGGGCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAG
AGTGGGGGGCCAAAACCTCTGCAGTCCCCGGCAGTGAGCTATGGACTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCT

>81185_81185_7_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000517600_length(amino acids)=553AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSREVWADSRSPGIISQASAPRTTGTPR
TSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPSLAVVETEWRKRKASR
RGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKSSSLPAYGRTTLSRLQ
STEFSPSGSETGSPGLQNGEGQRGRMDRGNSLPCVLEQKIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFSRVFAMSPEEFGKLAL

--------------------------------------------------------------
>81185_81185_8_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000519907_length(transcript)=2722nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGCGCTCGCTGTCACCCAAATCCACATCCCCCCCACCATCCCCAGAGGTGTGGG
CGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCAGAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACC
CTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCATCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGC
ACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAGCCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACT
ACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGAGGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGG
AGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGCGTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGA
TGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGAAAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGC
ACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGACCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGA
GTGAGACTGGAAGCCCAGGCCTGCAGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAACCAAGCTGCCACCGGGGGTGG
ATCGGATGCGGCTTGAGAGGCATCTGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAGAGTTTGGCAAGCTGGCTCTGT
GGAAGCGGAATGAGCTCAAGAAGAAGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCCCTTACCCCTGCTGCTTCAGGG
TTTTTCCCCGGCGGGTTGGGAGGGGCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAGAGTGGGGGGCCAAAACCTCTG
CAGTCCCCGGCAGTGAGCTATGGACTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCTGGCCCTCCCTGCACAGGGCAA
AGCCAGTCTGGGCTCTGGCACACAGAGTTCATGTTTGCGCCCTCTCCCTGCCCCTCACCCCAGAGGGTGAGGAGGAATGAGGGGCATTGG
TGGTTAGGCCGGTTGGCTGTCTTGAACAGCTGGAGGGAAGATGCAGGGGTGGGAAGCGGCCAGGCAGAAAGAGCTCCAGGCTCTTGTGTC
GCCCACCCAGCCCTCCCATACTCACTCCTGACAGCTTTCCTGCACTGCAGCCTCCTGCTCCTCTGACTCTAGTGGGAACAGGCCCCAGCT
CAGCCTCCGGCAGGGAGGTCACCCCTCCACTTCAGCTTGCCCTGACCTCCGCTCGCAAACCCCGAGCTTCCAAGCCTTTTGCTCCAGCCC
TGCGGCTTCCCCAGAAGCCTGGGCTTAGGGTGGAGATGCCGCCTACACACGATCCTGGCCCTCCACCTGCCTCCAGGCCACGAAATGGGA
ATTCCAGCACTAAGCCAGGCACCGGGCAGAAGCTGGGCCTTCCGCCTCCCTTGGATGGGGTCAAGAGGCCAGGCCTGGCACATTTTGGAG
TGTCCTGGCTACCAGCTCTCACCTACACCCACGCACCCCCCCACACACTATGCTCTCTCAAGAATGTAATTTATTGGGGCCCCCCCAGCT
GCTTTCCTCACCTGCCCCTGCCCTACCTTACACCCCCAGCTTGACTTCTTTCCAGTCCACGTGTGTATATAATGATATCTATATTTTTGC
CCAGGTCTGGGTATTGCTCCTGCCCAGACCCTGACATCCCTTTCCACTGTGTGTGTGACCATGCTGGGGGAGGGGGACTCTGCTTGGAAT

>81185_81185_8_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000519907_length(amino acids)=546AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWADSRSPG
IISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPS
LAVVETEWRKRKASRRGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKS
SSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFSRVFAMSPEEFGKLALWKRNELK

--------------------------------------------------------------
>81185_81185_9_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000523266_length(transcript)=2782nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGCGCTCGCTGTCACCCAAATCCACATCCCCCCCACCATCCCCAGAGGTGTGGG
CGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCAGAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACC
CTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCATCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGC
ACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAGCCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACT
ACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGAGGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGG
AGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGCGTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGA
TGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGAAAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGC
ACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGACCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGA
GTGAGACTGGAAGCCCAGGCCTGCAGAACGGAGAGGGCCAGAGGGGGAGGATGGACCGGGGGAACTCCCTGCCCTGTGTGCTGGAGCAGA
AGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAACCAAGCTGCCACCGGGGGTGGATCGGATGCGGCTTGAGAGGCATC
TGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAGAGTTTGGCAAGCTGGCTCTGTGGAAGCGGAATGAGCTCAAGAAGA
AGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCCCTTACCCCTGCTGCTTCAGGGTTTTTCCCCGGCGGGTTGGGAGGG
GCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAGAGTGGGGGGCCAAAACCTCTGCAGTCCCCGGCAGTGAGCTATGGA
CTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCTGGCCCTCCCTGCACAGGGCAAAGCCAGTCTGGGCTCTGGCACACA
GAGTTCATGTTTGCGCCCTCTCCCTGCCCCTCACCCCAGAGGGTGAGGAGGAATGAGGGGCATTGGTGGTTAGGCCGGTTGGCTGTCTTG
AACAGCTGGAGGGAAGATGCAGGGGTGGGAAGCGGCCAGGCAGAAAGAGCTCCAGGCTCTTGTGTCGCCCACCCAGCCCTCCCATACTCA
CTCCTGACAGCTTTCCTGCACTGCAGCCTCCTGCTCCTCTGACTCTAGTGGGAACAGGCCCCAGCTCAGCCTCCGGCAGGGAGGTCACCC
CTCCACTTCAGCTTGCCCTGACCTCCGCTCGCAAACCCCGAGCTTCCAAGCCTTTTGCTCCAGCCCTGCGGCTTCCCCAGAAGCCTGGGC
TTAGGGTGGAGATGCCGCCTACACACGATCCTGGCCCTCCACCTGCCTCCAGGCCACGAAATGGGAATTCCAGCACTAAGCCAGGCACCG
GGCAGAAGCTGGGCCTTCCGCCTCCCTTGGATGGGGTCAAGAGGCCAGGCCTGGCACATTTTGGAGTGTCCTGGCTACCAGCTCTCACCT
ACACCCACGCACCCCCCCACACACTATGCTCTCTCAAGAATGTAATTTATTGGGGCCCCCCCAGCTGCTTTCCTCACCTGCCCCTGCCCT
ACCTTACACCCCCAGCTTGACTTCTTTCCAGTCCACGTGTGTATATAATGATATCTATATTTTTGCCCAGGTCTGGGTATTGCTCCTGCC

>81185_81185_9_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000523266_length(amino acids)=568AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWADSRSPG
IISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPS
LAVVETEWRKRKASRRGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKS
SSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQNGEGQRGRMDRGNSLPCVLEQKIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFS

--------------------------------------------------------------
>81185_81185_10_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000523782_length(transcript)=2716nt_BP=602nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGCCAAGATGGACAATCAGGTGCTGGGCT
ACAAGGACCTGGCTGCCATCCCCAAGGACAAGGCCATCCTGGACATCGAGCGGCCCGACCTCATGATCTACGAGCCTCACTTCACTTATT
CCCTCCTGGAACACGTGGAGCTGCCTCGCAGCCGCGAGCGCTCGCTGTCACCCAAATCCACATCCCCCCCACCATCCCCAGAGGTGTGGG
CGGACAGCCGGTCGCCTGGAATCATCTCTCAGGCCTCGGCCCCCAGAACCACTGGAACCCCCCGGACCAGCCTGCCCCATTTCCACCACC
CTGAGACCTCCCGCCCAGATTCCAACATCTACAAGAAGCCTCCCATCTATAAGCAGAGAGAGTCCGTGGGAGGCAGCCCTCAGACCAAGC
ACCTCATCGAGGATCTCATCATCGAGTCATCCAAGTTTCCTGCAGCCCAGCCCCCAGACCCCAACCAGCCAGCCAAAATCGAAACCGACT
ACTGGCCATGCCCCCCGTCTCTGGCTGTTGTGGAGACAGAATGGAGGAAGCGGAAGGCGTCTCGGAGGGGAGCAGAGGAAGAGGAGGAGG
AGGAAGATGACGACTCTGGAGAGGAGATGAAGGCTCTCAGGGAGCGTCAGAGAGAGGAACTCAGTAAGGTTACTTCCAACTTGGGAAAGA
TGATCTTGAAAGAAGAGATGGAAAAGTCATTGCCGATCCGAAGGAAAACCCGCTCTCTGCCTGACCGGACACCCTTCCATACCTCCTTGC
ACCAGGGAACGTCTAAATCTTCCTCTCTCCCCGCCTATGGCAGGACCACCCTGAGCCGGCTACAGTCCACAGAGTTCAGCCCATCAGGGA
GTGAGACTGGAAGCCCAGGCCTGCAGATCTATCCCTATGAAATGCTAGTGGTGACCAACAAGGGGCGAACCAAGCTGCCACCGGGGGTGG
ATCGGATGCGGCTTGAGAGGCATCTGTCTGCCGAGGACTTCTCAAGGGTATTTGCCATGTCCCCTGAAGAGTTTGGCAAGCTGGCTCTGT
GGAAGCGGAATGAGCTCAAGAAGAAGGCCTCTCTCTTCTGATGGCCCCCACCTGCTCCGGGACGGCCCCCTTACCCCTGCTGCTTCAGGG
TTTTTCCCCGGCGGGTTGGGAGGGGCAGGAGGTGGGGTGGAAATAGGGTGGGCTCCTTTCCTCAGGTAGAGTGGGGGGCCAAAACCTCTG
CAGTCCCCGGCAGTGAGCTATGGACTTTCTTCCCCCTCACAAGGCTGGGGGCCTCCTGCTCTCGTCCCTGGCCCTCCCTGCACAGGGCAA
AGCCAGTCTGGGCTCTGGCACACAGAGTTCATGTTTGCGCCCTCTCCCTGCCCCTCACCCCAGAGGGTGAGGAGGAATGAGGGGCATTGG
TGGTTAGGCCGGTTGGCTGTCTTGAACAGCTGGAGGGAAGATGCAGGGGTGGGAAGCGGCCAGGCAGAAAGAGCTCCAGGCTCTTGTGTC
GCCCACCCAGCCCTCCCATACTCACTCCTGACAGCTTTCCTGCACTGCAGCCTCCTGCTCCTCTGACTCTAGTGGGAACAGGCCCCAGCT
CAGCCTCCGGCAGGGAGGTCACCCCTCCACTTCAGCTTGCCCTGACCTCCGCTCGCAAACCCCGAGCTTCCAAGCCTTTTGCTCCAGCCC
TGCGGCTTCCCCAGAAGCCTGGGCTTAGGGTGGAGATGCCGCCTACACACGATCCTGGCCCTCCACCTGCCTCCAGGCCACGAAATGGGA
ATTCCAGCACTAAGCCAGGCACCGGGCAGAAGCTGGGCCTTCCGCCTCCCTTGGATGGGGTCAAGAGGCCAGGCCTGGCACATTTTGGAG
TGTCCTGGCTACCAGCTCTCACCTACACCCACGCACCCCCCCACACACTATGCTCTCTCAAGAATGTAATTTATTGGGGCCCCCCCAGCT
GCTTTCCTCACCTGCCCCTGCCCTACCTTACACCCCCAGCTTGACTTCTTTCCAGTCCACGTGTGTATATAATGATATCTATATTTTTGC
CCAGGTCTGGGTATTGCTCCTGCCCAGACCCTGACATCCCTTTCCACTGTGTGTGTGACCATGCTGGGGGAGGGGGACTCTGCTTGGAAT

>81185_81185_10_SFTPB-DMTN_SFTPB_chr2_85892729_ENST00000519937_DMTN_chr8_21925038_ENST00000523782_length(amino acids)=546AA_BP=193
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWADSRSPG
IISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPS
LAVVETEWRKRKASRRGAEEEEEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKS
SSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFSRVFAMSPEEFGKLALWKRNELK

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

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Fusion Gene PPI Analysis for SFTPB-DMTN


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
TgeneDMTNchr2:85892729chr8:21925038ENST00000265800216224_30831.0406.0RASGRF2
TgeneDMTNchr2:85892729chr8:21925038ENST00000358242216224_30831.0406.0RASGRF2
TgeneDMTNchr2:85892729chr8:21925038ENST00000381470215224_30831.0384.0RASGRF2
TgeneDMTNchr2:85892729chr8:21925038ENST00000415253215224_30831.0384.0RASGRF2
TgeneDMTNchr2:85892729chr8:21925038ENST00000432128216224_30831.0406.0RASGRF2
TgeneDMTNchr2:85892729chr8:21925038ENST00000443491114224_3086.0359.0RASGRF2
TgeneDMTNchr2:85892729chr8:21925038ENST00000519907215224_30831.0384.0RASGRF2
TgeneDMTNchr2:85892729chr8:21925038ENST00000523266216224_30831.0406.0RASGRF2
TgeneDMTNchr2:85892729chr8:21925038ENST00000523782114224_3086.0359.0RASGRF2


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 SFTPB-DMTN


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 SFTPB-DMTN


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