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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:TTN-SERPINA1 (FusionGDB2 ID:94561)

Fusion Gene Summary for TTN-SERPINA1

check button Fusion gene summary
Fusion gene informationFusion gene name: TTN-SERPINA1
Fusion gene ID: 94561
HgeneTgene
Gene symbol

TTN

SERPINA1

Gene ID

7273

5265

Gene nametitinserpin family A member 1
SynonymsCMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|LGMDR10|MYLK5|SALMY|TMDA1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIF
Cytomap

2q31.2

14q32.13

Type of geneprotein-codingprotein-coding
Descriptiontitinconnectinrhabdomyosarcoma antigen MU-RMS-40.14alpha-1-antitrypsinalpha-1 antitrypsinalpha-1 protease inhibitoralpha-1-antiproteinasealpha-1-antitrypsin nullalpha-1-antitrypsin short transcript variant 1C4alpha-1-antitrypsin short transcript variant 1C5epididymis secretory sperm binding protein
Modification date2020032820200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000342992, ENST00000460472, 
ENST00000589042, ENST00000342175, 
ENST00000359218, ENST00000591111, 
ENST00000360870, 		ENST00000440909, 
ENST00000448921, ENST00000437397, 
ENST00000355814, ENST00000393087, 
ENST00000393088, ENST00000404814, 
ENST00000449399, ENST00000402629, 
ENST00000555289, 
Fusion gene scores* DoF score16 X 18 X 6=172816 X 17 X 6=1632
# samples 1818
** MAII scorelog2(18/1728*10)=-3.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1632*10)=-3.18057224564182
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TTN [Title/Abstract] AND SERPINA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTTN(179529446)-SERPINA1(94844976), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTTN

GO:0035995

detection of muscle stretch

18765796

HgeneTTN

GO:0051592

response to calcium ion

7607248


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

check buttonFusion gene breakpoints across SERPINA1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-EP-A2KA-01ATTNchr2

179529446

-SERPINA1chr14

94844976

-


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Fusion Gene ORF analysis for TTN-SERPINA1

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
intron-3CDSENST00000342992ENST00000440909TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342992ENST00000448921TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342992ENST00000437397TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342992ENST00000355814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342992ENST00000393087TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342992ENST00000393088TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342992ENST00000404814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342992ENST00000449399TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000342992ENST00000402629TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000342992ENST00000555289TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000460472ENST00000440909TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000460472ENST00000448921TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000460472ENST00000437397TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000460472ENST00000355814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000460472ENST00000393087TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000460472ENST00000393088TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000460472ENST00000404814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000460472ENST00000449399TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000460472ENST00000402629TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000460472ENST00000555289TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000589042ENST00000440909TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000589042ENST00000448921TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000589042ENST00000437397TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000589042ENST00000355814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000589042ENST00000393087TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000589042ENST00000393088TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000589042ENST00000404814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000589042ENST00000449399TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000589042ENST00000402629TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000589042ENST00000555289TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342175ENST00000440909TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342175ENST00000448921TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342175ENST00000437397TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342175ENST00000355814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342175ENST00000393087TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342175ENST00000393088TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342175ENST00000404814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000342175ENST00000449399TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000342175ENST00000402629TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000342175ENST00000555289TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000359218ENST00000440909TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000359218ENST00000448921TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000359218ENST00000437397TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000359218ENST00000355814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000359218ENST00000393087TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000359218ENST00000393088TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000359218ENST00000404814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000359218ENST00000449399TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000359218ENST00000402629TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000359218ENST00000555289TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000591111ENST00000440909TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000591111ENST00000448921TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000591111ENST00000437397TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000591111ENST00000355814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000591111ENST00000393087TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000591111ENST00000393088TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000591111ENST00000404814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000591111ENST00000449399TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000591111ENST00000402629TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000591111ENST00000555289TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000360870ENST00000440909TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000360870ENST00000448921TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000360870ENST00000437397TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000360870ENST00000355814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000360870ENST00000393087TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000360870ENST00000393088TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000360870ENST00000404814TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-3CDSENST00000360870ENST00000449399TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000360870ENST00000402629TTNchr2

179529446

-SERPINA1chr14

94844976

-
intron-intronENST00000360870ENST00000555289TTNchr2

179529446

-SERPINA1chr14

94844976

-

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)

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

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Fusion Genomic Features for TTN-SERPINA1


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

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

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

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Fusion Protein Features for TTN-SERPINA1


check button Go to

FGviewer for the breakpoints of :-:

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

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for TTN-SERPINA1


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.

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Fusion Gene PPI Analysis for TTN-SERPINA1


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 TTN-SERPINA1


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 TTN-SERPINA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTTNC0007194Hypertrophic Cardiomyopathy9CLINGEN
HgeneTTNC1858763Cardiomyopathy, Dilated, 1g7CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTTNC1861065CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 95CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTTNC1863599Hereditary Myopathy with Early Respiratory Failure5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTTNC2673677Myopathy, Early-Onset, with Fatal Cardiomyopathy5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneTTNC0007193Cardiomyopathy, Dilated4CTD_human;GENOMICS_ENGLAND
HgeneTTNC1838244TIBIAL MUSCULAR DYSTROPHY, TARDIVE4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTTNC1449563Cardiomyopathy, Familial Idiopathic3CTD_human
HgeneTTNC1837342MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J3CTD_human;GENOMICS_ENGLAND
HgeneTTNC0004238Atrial Fibrillation2CTD_human
HgeneTTNC0235480Paroxysmal atrial fibrillation2CTD_human
HgeneTTNC0751336Distal Muscular Dystrophies2CTD_human;GENOMICS_ENGLAND
HgeneTTNC2585653Persistent atrial fibrillation2CTD_human
HgeneTTNC3468561familial atrial fibrillation2CTD_human
HgeneTTNC0003886Arthrogryposis1GENOMICS_ENGLAND
HgeneTTNC0026848Myopathy1CTD_human
HgeneTTNC0151786Muscle Weakness1CTD_human
HgeneTTNC0221054Welander Distal Myopathy1CTD_human
HgeneTTNC0270960Congenital myopathy (disorder)1GENOMICS_ENGLAND
HgeneTTNC0340427Familial dilated cardiomyopathy1CTD_human;ORPHANET
HgeneTTNC0410204Myopathy, Centronuclear, Autosomal Recessive1ORPHANET
HgeneTTNC0686353Muscular Dystrophies, Limb-Girdle1GENOMICS_ENGLAND
HgeneTTNC1450052Tibial Muscular Dystrophy1CTD_human
HgeneTTNC1832931ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 21ORPHANET
HgeneTTNC1843687ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)1ORPHANET
HgeneTTNC2678065Myofibrillar Myopathy1GENOMICS_ENGLAND
HgeneTTNC3645536Autosomal Recessive Centronuclear Myopathy1ORPHANET
HgeneTTNC4552004Distal Myopathy 11CTD_human
TgeneSERPINA1C0023895Liver diseases6CTD_human
TgeneSERPINA1C0086565Liver Dysfunction6CTD_human
TgeneSERPINA1C0221757alpha 1-Antitrypsin Deficiency6CTD_human;GENOMICS_ENGLAND
TgeneSERPINA1C0023890Liver Cirrhosis3CTD_human
TgeneSERPINA1C0239946Fibrosis, Liver3CTD_human
TgeneSERPINA1C0005586Bipolar Disorder2CTD_human;PSYGENET
TgeneSERPINA1C0024117Chronic Obstructive Airway Disease2CTD_human
TgeneSERPINA1C0030328Panniculitis, Nodular Nonsuppurative2CTD_human
TgeneSERPINA1C0525045Mood Disorders2PSYGENET
TgeneSERPINA1C1527303Chronic Airflow Obstruction2CTD_human
TgeneSERPINA1C2239176Liver carcinoma2CTD_human
TgeneSERPINA1C0001418Adenocarcinoma1CTD_human
TgeneSERPINA1C0003469Anxiety Disorders1CTD_human
TgeneSERPINA1C0003850Arteriosclerosis1CTD_human
TgeneSERPINA1C0003949Asbestosis1CTD_human
TgeneSERPINA1C0005587Depression, Bipolar1CTD_human
TgeneSERPINA1C0006267Bronchiectasis1CTD_human
TgeneSERPINA1C0008370Cholestasis1CTD_human
TgeneSERPINA1C0013221Drug toxicity1CTD_human
TgeneSERPINA1C0013990Pathological accumulation of air in tissues1CTD_human
TgeneSERPINA1C0019080Hemorrhage1CTD_human
TgeneSERPINA1C0019693HIV Infections1CTD_human
TgeneSERPINA1C0020615Hypoglycemia1CTD_human
TgeneSERPINA1C0022660Kidney Failure, Acute1CTD_human
TgeneSERPINA1C0024115Lung diseases1CTD_human;GENOMICS_ENGLAND
TgeneSERPINA1C0024121Lung Neoplasms1CTD_human
TgeneSERPINA1C0024623Malignant neoplasm of stomach1CTD_human
TgeneSERPINA1C0024713Manic Disorder1CTD_human
TgeneSERPINA1C0027627Neoplasm Metastasis1CTD_human
TgeneSERPINA1C0034067Pulmonary Emphysema1CTD_human
TgeneSERPINA1C0034069Pulmonary Fibrosis1CTD_human
TgeneSERPINA1C0038356Stomach Neoplasms1CTD_human
TgeneSERPINA1C0039841Thiamine Deficiency1CTD_human
TgeneSERPINA1C0041755Adverse reaction to drug1CTD_human
TgeneSERPINA1C0042384Vasculitis1CTD_human
TgeneSERPINA1C0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneSERPINA1C0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneSERPINA1C0205643Carcinoma, Cribriform1CTD_human
TgeneSERPINA1C0205644Carcinoma, Granular Cell1CTD_human
TgeneSERPINA1C0205645Adenocarcinoma, Tubular1CTD_human
TgeneSERPINA1C0221227Centriacinar Emphysema1CTD_human
TgeneSERPINA1C0242379Malignant neoplasm of lung1CTD_human
TgeneSERPINA1C0264393Panacinar Emphysema1CTD_human
TgeneSERPINA1C0270715Degenerative Diseases, Central Nervous System1CTD_human
TgeneSERPINA1C0271708Fasting Hypoglycemia1CTD_human
TgeneSERPINA1C0271710Reactive hypoglycemia1CTD_human
TgeneSERPINA1C0338831Manic1CTD_human
TgeneSERPINA1C0376280Anxiety States, Neurotic1CTD_human
TgeneSERPINA1C0524851Neurodegenerative Disorders1CTD_human
TgeneSERPINA1C0751733Degenerative Diseases, Spinal Cord1CTD_human
TgeneSERPINA1C1279420Anxiety neurosis (finding)1CTD_human
TgeneSERPINA1C1565662Acute Kidney Insufficiency1CTD_human
TgeneSERPINA1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneSERPINA1C2350878Focal Emphysema1CTD_human
TgeneSERPINA1C2609414Acute kidney injury1CTD_human
TgeneSERPINA1C2930617Pulmonary Fibrosis - from Asbestos Exposure1CTD_human
TgeneSERPINA1C2930967Gastro-enteropancreatic neuroendocrine tumor1CTD_human
TgeneSERPINA1C4505456HIV Coinfection1CTD_human
TgeneSERPINA1C4721507Alveolitis, Fibrosing1CTD_human