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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:DGKD-ATG16L1 (FusionGDB2 ID:HG8527TG55054)

Fusion Gene Summary for DGKD-ATG16L1

check button Fusion gene summary
Fusion gene informationFusion gene name: DGKD-ATG16L1
Fusion gene ID: hg8527tg55054
HgeneTgene
Gene symbol

DGKD

ATG16L1

Gene ID

8527

55054

Gene namediacylglycerol kinase deltaautophagy related 16 like 1
SynonymsDGK-delta|DGKdelta|dgkd-2APG16L|ATG16A|ATG16L|IBD10|WDR30
Cytomap('DGKD')('ATG16L1')

2q37.1

2q37.1

Type of geneprotein-codingprotein-coding
Descriptiondiacylglycerol kinase deltaDAG kinase deltadiacylglycerol kinase, delta 130kDadiglyceride kinase deltaautophagy-related protein 16-1APG16L betaATG16 autophagy related 16-like 1WD repeat domain 30
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000264057, ENST00000409813, 
ENST00000489613, 
Fusion gene scores* DoF score21 X 6 X 10=12603 X 3 X 3=27
# samples 234
** MAII scorelog2(23/1260*10)=-2.4537179674429
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DGKD [Title/Abstract] AND ATG16L1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDGKD(234263320)-ATG16L1(234164748), # samples:3
Anticipated loss of major functional domain due to fusion event.DGKD-ATG16L1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DGKD-ATG16L1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DGKD-ATG16L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DGKD-ATG16L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DGKD-ATG16L1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
DGKD-ATG16L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DGKD-ATG16L1 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
HgeneDGKD

GO:0010033

response to organic substance

12200442


check buttonFusion gene breakpoints across DGKD (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 ATG16L1 (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
* 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
ChimerDB4LUSCTCGA-22-1017-01ADGKDchr2

234263320

-ATG16L1chr2

234164748

+
ChimerDB4LUSCTCGA-22-1017-01ADGKDchr2

234263320

+ATG16L1chr2

234164748

+
ChimerDB4LUSCTCGA-22-1017DGKDchr2

234263320

+ATG16L1chr2

234164748

+
ChimerDB4STADTCGA-BR-4369-01ADGKDchr2

234299129

-ATG16L1chr2

234186214

+
ChimerDB4STADTCGA-BR-4369-01ADGKDchr2

234299129

+ATG16L1chr2

234186214

+


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Fusion Gene ORF analysis for DGKD-ATG16L1

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-3UTRENST00000264057ENST00000498620DGKDchr2

234299129

+ATG16L1chr2

234186214

+
5CDS-3UTRENST00000409813ENST00000498620DGKDchr2

234299129

+ATG16L1chr2

234186214

+
5CDS-intronENST00000264057ENST00000498620DGKDchr2

234263320

+ATG16L1chr2

234164748

+
Frame-shiftENST00000264057ENST00000347464DGKDchr2

234263320

+ATG16L1chr2

234164748

+
Frame-shiftENST00000264057ENST00000373525DGKDchr2

234263320

+ATG16L1chr2

234164748

+
Frame-shiftENST00000264057ENST00000392017DGKDchr2

234263320

+ATG16L1chr2

234164748

+
Frame-shiftENST00000264057ENST00000392018DGKDchr2

234263320

+ATG16L1chr2

234164748

+
Frame-shiftENST00000264057ENST00000392020DGKDchr2

234263320

+ATG16L1chr2

234164748

+
In-frameENST00000264057ENST00000347464DGKDchr2

234299129

+ATG16L1chr2

234186214

+
In-frameENST00000264057ENST00000373525DGKDchr2

234299129

+ATG16L1chr2

234186214

+
In-frameENST00000264057ENST00000392017DGKDchr2

234299129

+ATG16L1chr2

234186214

+
In-frameENST00000264057ENST00000392018DGKDchr2

234299129

+ATG16L1chr2

234186214

+
In-frameENST00000264057ENST00000392020DGKDchr2

234299129

+ATG16L1chr2

234186214

+
In-frameENST00000409813ENST00000347464DGKDchr2

234299129

+ATG16L1chr2

234186214

+
In-frameENST00000409813ENST00000373525DGKDchr2

234299129

+ATG16L1chr2

234186214

+
In-frameENST00000409813ENST00000392017DGKDchr2

234299129

+ATG16L1chr2

234186214

+
In-frameENST00000409813ENST00000392018DGKDchr2

234299129

+ATG16L1chr2

234186214

+
In-frameENST00000409813ENST00000392020DGKDchr2

234299129

+ATG16L1chr2

234186214

+
intron-3CDSENST00000409813ENST00000347464DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000409813ENST00000373525DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000409813ENST00000392017DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000409813ENST00000392018DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000409813ENST00000392020DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000489613ENST00000347464DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000489613ENST00000347464DGKDchr2

234299129

+ATG16L1chr2

234186214

+
intron-3CDSENST00000489613ENST00000373525DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000489613ENST00000373525DGKDchr2

234299129

+ATG16L1chr2

234186214

+
intron-3CDSENST00000489613ENST00000392017DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000489613ENST00000392017DGKDchr2

234299129

+ATG16L1chr2

234186214

+
intron-3CDSENST00000489613ENST00000392018DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000489613ENST00000392018DGKDchr2

234299129

+ATG16L1chr2

234186214

+
intron-3CDSENST00000489613ENST00000392020DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-3CDSENST00000489613ENST00000392020DGKDchr2

234299129

+ATG16L1chr2

234186214

+
intron-3UTRENST00000489613ENST00000498620DGKDchr2

234299129

+ATG16L1chr2

234186214

+
intron-intronENST00000409813ENST00000498620DGKDchr2

234263320

+ATG16L1chr2

234164748

+
intron-intronENST00000489613ENST00000498620DGKDchr2

234263320

+ATG16L1chr2

234164748

+

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)
ENST00000264057DGKDchr2234299129+ENST00000347464ATG16L1chr2234186214+2553360121229405
ENST00000264057DGKDchr2234299129+ENST00000392017ATG16L1chr2234186214+2554360121229405
ENST00000264057DGKDchr2234299129+ENST00000373525ATG16L1chr2234186214+2449360121124370
ENST00000264057DGKDchr2234299129+ENST00000392020ATG16L1chr2234186214+2554360121229405
ENST00000264057DGKDchr2234299129+ENST00000392018ATG16L1chr2234186214+2554360121229405
ENST00000409813DGKDchr2234299129+ENST00000347464ATG16L1chr2234186214+2488295791164361
ENST00000409813DGKDchr2234299129+ENST00000392017ATG16L1chr2234186214+2489295791164361
ENST00000409813DGKDchr2234299129+ENST00000373525ATG16L1chr2234186214+2384295791059326
ENST00000409813DGKDchr2234299129+ENST00000392020ATG16L1chr2234186214+2489295791164361
ENST00000409813DGKDchr2234299129+ENST00000392018ATG16L1chr2234186214+2489295791164361

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
ENST00000264057ENST00000347464DGKDchr2234299129+ATG16L1chr2234186214+0.0031425540.9968574
ENST00000264057ENST00000392017DGKDchr2234299129+ATG16L1chr2234186214+0.003170020.9968299
ENST00000264057ENST00000373525DGKDchr2234299129+ATG16L1chr2234186214+0.0018749460.998125
ENST00000264057ENST00000392020DGKDchr2234299129+ATG16L1chr2234186214+0.003170020.9968299
ENST00000264057ENST00000392018DGKDchr2234299129+ATG16L1chr2234186214+0.003170020.9968299
ENST00000409813ENST00000347464DGKDchr2234299129+ATG16L1chr2234186214+0.0010844370.99891555
ENST00000409813ENST00000392017DGKDchr2234299129+ATG16L1chr2234186214+0.0010872390.9989128
ENST00000409813ENST00000373525DGKDchr2234299129+ATG16L1chr2234186214+0.0009360620.9990639
ENST00000409813ENST00000392020DGKDchr2234299129+ATG16L1chr2234186214+0.0010872390.9989128
ENST00000409813ENST00000392018DGKDchr2234299129+ATG16L1chr2234186214+0.0010872390.9989128

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Fusion Genomic Features for DGKD-ATG16L1


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)
DGKDchr2234263320+ATG16L1chr2234164747+1.74E-070.9999999
DGKDchr2234263320+ATG16L1chr2234164747+1.74E-070.9999999
DGKDchr2234299129+ATG16L1chr2234186213+1.44E-101
DGKDchr2234263320+ATG16L1chr2234164747+1.74E-070.9999999
DGKDchr2234263320+ATG16L1chr2234164747+1.74E-070.9999999
DGKDchr2234299129+ATG16L1chr2234186213+1.44E-101

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 DGKD-ATG16L1


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/chr2:234263320/chr2:234164748)
- 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
..
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: 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}.

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
HgeneDGKDchr2:234299129chr2:234186214ENST00000264057+3308_361161215.0Compositional biasNote=Pro-rich
HgeneDGKDchr2:234299129chr2:234186214ENST00000409813+2298_36721171.0Compositional biasNote=Pro-rich
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414296_299155445.0MotifNote=Caspase cleavage
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515296_299174429.0MotifNote=Caspase cleavage
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717296_299299589.0MotifNote=Caspase cleavage
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414207_230155445.0RegionWIPI2-binding
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414230_242155445.0RegionRB1CC1-binding
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515207_230174429.0RegionWIPI2-binding
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515230_242174429.0RegionRB1CC1-binding
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414320_359155445.0RepeatWD 1
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414364_403155445.0RepeatWD 2
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414406_445155445.0RepeatWD 3
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414447_484155445.0RepeatWD 4
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414486_525155445.0RepeatWD 5
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414532_573155445.0RepeatWD 6
TgeneATG16L1chr2:234299129chr2:234186214ENST00000347464414575_607155445.0RepeatWD 7
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515320_359174429.0RepeatWD 1
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515364_403174429.0RepeatWD 2
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515406_445174429.0RepeatWD 3
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515447_484174429.0RepeatWD 4
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515486_525174429.0RepeatWD 5
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515532_573174429.0RepeatWD 6
TgeneATG16L1chr2:234299129chr2:234186214ENST00000373525515575_607174429.0RepeatWD 7
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818320_359318608.0RepeatWD 1
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818364_403318608.0RepeatWD 2
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818406_445318608.0RepeatWD 3
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818447_484318608.0RepeatWD 4
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818486_525318608.0RepeatWD 5
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818532_573318608.0RepeatWD 6
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818575_607318608.0RepeatWD 7
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717320_359299589.0RepeatWD 1
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717364_403299589.0RepeatWD 2
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717406_445299589.0RepeatWD 3
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717447_484299589.0RepeatWD 4
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717486_525299589.0RepeatWD 5
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717532_573299589.0RepeatWD 6
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717575_607299589.0RepeatWD 7

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDGKDchr2:234299129chr2:234186214ENST00000264057+3301145_12081161215.0DomainSAM
HgeneDGKDchr2:234299129chr2:234186214ENST00000264057+330317_4511161215.0DomainDAGKc
HgeneDGKDchr2:234299129chr2:234186214ENST00000264057+33053_1461161215.0DomainPH
HgeneDGKDchr2:234299129chr2:234186214ENST00000409813+2291145_1208721171.0DomainSAM
HgeneDGKDchr2:234299129chr2:234186214ENST00000409813+229317_451721171.0DomainDAGKc
HgeneDGKDchr2:234299129chr2:234186214ENST00000409813+22953_146721171.0DomainPH
HgeneDGKDchr2:234299129chr2:234186214ENST00000264057+330163_2131161215.0Zinc fingerPhorbol-ester/DAG-type 1
HgeneDGKDchr2:234299129chr2:234186214ENST00000264057+330235_2861161215.0Zinc fingerPhorbol-ester/DAG-type 2
HgeneDGKDchr2:234299129chr2:234186214ENST00000409813+229163_213721171.0Zinc fingerPhorbol-ester/DAG-type 1
HgeneDGKDchr2:234299129chr2:234186214ENST00000409813+229235_286721171.0Zinc fingerPhorbol-ester/DAG-type 2
TgeneATG16L1chr2:234299129chr2:234186214ENST0000034746441478_230155445.0Coiled coilOntology_term=ECO:0000255
TgeneATG16L1chr2:234299129chr2:234186214ENST0000037352551578_230174429.0Coiled coilOntology_term=ECO:0000255
TgeneATG16L1chr2:234299129chr2:234186214ENST0000039201781878_230318608.0Coiled coilOntology_term=ECO:0000255
TgeneATG16L1chr2:234299129chr2:234186214ENST0000039202071778_230299589.0Coiled coilOntology_term=ECO:0000255
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818296_299318608.0MotifNote=Caspase cleavage
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818207_230318608.0RegionWIPI2-binding
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392017818230_242318608.0RegionRB1CC1-binding
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717207_230299589.0RegionWIPI2-binding
TgeneATG16L1chr2:234299129chr2:234186214ENST00000392020717230_242299589.0RegionRB1CC1-binding


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Fusion Gene Sequence for DGKD-ATG16L1


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.
>22445_22445_1_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000347464_length(transcript)=2553nt_BP=360nt
TGGCCCGGCAGCATGGCGGCGGCGGCGGGCGCCCCTCCGCCGGGTCCCCCGCAACCGCCTCCGCCGCCGCCGCCCGAGGAGTCGTCCGAC
AGCGAGCCCGAGGCGGAGCCCGGCTCCCCACAGAAGCTCATCCGCAAGGTGTCCACGTCGGGTCAGATCCGACAGAAGACCATCATCAAA
GAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCGAGGGCGAACGCTTTACTATGCCAAA
ACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACG
GATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGTTCCCGGTTACTGGCCACTGGAGGCATGGACCGCAGGGTTAAGCTT
TGGGAAGTATTTGGAGAAAAATGTGAGTTCAAGGGTTCCCTATCTGGCAGTAATGCAGGAATTACAAGCATTGAATTTGATAGTGCTGGA
TCTTACCTCTTAGCAGCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATTACGGCACACACTCACGGGACACAGT
GGGAAAGTGCTGTCTGCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCGGACTCTCAAACTCTGGGATCTACGC
AGCAAAGTCTGCATAAAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCAATGTGTAATGAGTGGACATTTTGAC
AAGAAAATTCGTTTCTGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAAGATTACTGCCCTGGACTTAAACCCA
GAAAGGACTGAGCTCCTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAATGCTATCAAGCAGACATTCAGTGCA
CCTGGGTTCAAGTGCGGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGCGGCAGGCTCTGCTGAGGGCTCTCTG
TATATCTGGAGTGTGCTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCATCAATGCGGTGGCGTGGTCGCCCTCT
GGCTCGCACGTTGTCAGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGGCTCTCAGGGCTGGGAGGACCCCAGT
GCCCTCCTCAGAAGAAGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATAGCATGGACCTCCCAGAGAAGCTCAA
GCTATGTGGCACTGTAGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGGCCTGGAAGAATAACACTGAAAAAAC
CTGACGCTGCGGTCACTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACCTTCCATACCTCACTTGGGGGAGCAC
AGGGCCCCGCTGGGCCTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTTCTCTGTGCTTTCTCTCGTCCTTCCA
AAGTCGGTTCTGGCCTAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTAAGCATTGGATTAACGGAAACTCCCG
AACTACAGACCCCTCCCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACATCTCTTTCACTGTTCTTCAGAGCTTT
CTGGCTCTCTTTCCCCCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGTTTTTTGTTTTTTTGTTTTTTTGAGG
TGGGAGAGGATGTGTGAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTCCTGTATCGATCTGCAGACACCCAGA
AGGTGGGTGCACACTGCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGAAGGTGGTGATTCTGGCCATGGCCCC
TCTGCCAAGCCTGTGTGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAGCAGCGCCATCTTTCCGTTTCAGGGG
TTGTGATGAAGGCCAAGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTCATTGGGTGTGCGAAACACCCTTTTT
ATCACTTTTAAATTTGCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGTGAGTGTTAGAGCTGGTGAGAGAGGA
GTCAGGTGGCCTTCCCACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCGCTTTCCAATTTGCCCTTCAGAGAAC
TTAAGTCAAGGAGAGTTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGCCAACAGAACTTGATTGTAAATAATA
ATAAAGAAATCTGTTATATACTTTTCAAACTCC

>22445_22445_1_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000347464_length(amino acids)=405AA_BP=116
MAAAAGAPPPGPPQPPPPPPPEESSDSEPEAEPGSPQKLIRKVSTSGQIRQKTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKS
IIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGSRLLATGGMDRRVKLWEVFGEKCEFKGSLSGSNAGITSIEFDSAGSYLL
AASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSGSHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIR
FWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVIDLRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWS
VLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDKGCKAVLWAQY

--------------------------------------------------------------
>22445_22445_2_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000373525_length(transcript)=2449nt_BP=360nt
TGGCCCGGCAGCATGGCGGCGGCGGCGGGCGCCCCTCCGCCGGGTCCCCCGCAACCGCCTCCGCCGCCGCCGCCCGAGGAGTCGTCCGAC
AGCGAGCCCGAGGCGGAGCCCGGCTCCCCACAGAAGCTCATCCGCAAGGTGTCCACGTCGGGTCAGATCCGACAGAAGACCATCATCAAA
GAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCGAGGGCGAACGCTTTACTATGCCAAA
ACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACG
GATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGAATTACAAGCATTGAATTTGATAGTGCTGGATCTTACCTCTTAGCA
GCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATTACGGCACACACTCACGGGACACAGTGGGAAAGTGCTGTCT
GCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCGGACTCTCAAACTCTGGGATCTACGCAGCAAAGTCTGCATA
AAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCAATGTGTAATGAGTGGACATTTTGACAAGAAAATTCGTTTC
TGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAAGATTACTGCCCTGGACTTAAACCCAGAAAGGACTGAGCTC
CTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAATGCTATCAAGCAGACATTCAGTGCACCTGGGTTCAAGTGC
GGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGCGGCAGGCTCTGCTGAGGGCTCTCTGTATATCTGGAGTGTG
CTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCATCAATGCGGTGGCGTGGTCGCCCTCTGGCTCGCACGTTGTC
AGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGGCTCTCAGGGCTGGGAGGACCCCAGTGCCCTCCTCAGAAGA
AGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATAGCATGGACCTCCCAGAGAAGCTCAAGCTATGTGGCACTGT
AGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGGCCTGGAAGAATAACACTGAAAAAACCTGACGCTGCGGTCA
CTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACCTTCCATACCTCACTTGGGGGAGCACAGGGCCCCGCTGGGC
CTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTTCTCTGTGCTTTCTCTCGTCCTTCCAAAGTCGGTTCTGGCC
TAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTAAGCATTGGATTAACGGAAACTCCCGAACTACAGACCCCTC
CCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACATCTCTTTCACTGTTCTTCAGAGCTTTCTGGCTCTCTTTCCC
CCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGTTTTTTGTTTTTTTGTTTTTTTGAGGTGGGAGAGGATGTGT
GAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTCCTGTATCGATCTGCAGACACCCAGAAGGTGGGTGCACACT
GCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGAAGGTGGTGATTCTGGCCATGGCCCCTCTGCCAAGCCTGTG
TGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAGCAGCGCCATCTTTCCGTTTCAGGGGTTGTGATGAAGGCCA
AGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTCATTGGGTGTGCGAAACACCCTTTTTATCACTTTTAAATTT
GCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGTGAGTGTTAGAGCTGGTGAGAGAGGAGTCAGGTGGCCTTCC
CACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCGCTTTCCAATTTGCCCTTCAGAGAACTTAAGTCAAGGAGAG
TTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGCCAACAGAACTTGATTGTAAATAATAATAAAGAAATCTGTT
ATATACTTTTCAAACTCCA

>22445_22445_2_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000373525_length(amino acids)=370AA_BP=116
MAAAAGAPPPGPPQPPPPPPPEESSDSEPEAEPGSPQKLIRKVSTSGQIRQKTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKS
IIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGITSIEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFL
LDNARIVSGSHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPERTELLSCS
RDDLLKVIDLRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWSVLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDK
GCKAVLWAQY

--------------------------------------------------------------
>22445_22445_3_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000392017_length(transcript)=2554nt_BP=360nt
TGGCCCGGCAGCATGGCGGCGGCGGCGGGCGCCCCTCCGCCGGGTCCCCCGCAACCGCCTCCGCCGCCGCCGCCCGAGGAGTCGTCCGAC
AGCGAGCCCGAGGCGGAGCCCGGCTCCCCACAGAAGCTCATCCGCAAGGTGTCCACGTCGGGTCAGATCCGACAGAAGACCATCATCAAA
GAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCGAGGGCGAACGCTTTACTATGCCAAA
ACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACG
GATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGTTCCCGGTTACTGGCCACTGGAGGCATGGACCGCAGGGTTAAGCTT
TGGGAAGTATTTGGAGAAAAATGTGAGTTCAAGGGTTCCCTATCTGGCAGTAATGCAGGAATTACAAGCATTGAATTTGATAGTGCTGGA
TCTTACCTCTTAGCAGCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATTACGGCACACACTCACGGGACACAGT
GGGAAAGTGCTGTCTGCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCGGACTCTCAAACTCTGGGATCTACGC
AGCAAAGTCTGCATAAAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCAATGTGTAATGAGTGGACATTTTGAC
AAGAAAATTCGTTTCTGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAAGATTACTGCCCTGGACTTAAACCCA
GAAAGGACTGAGCTCCTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAATGCTATCAAGCAGACATTCAGTGCA
CCTGGGTTCAAGTGCGGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGCGGCAGGCTCTGCTGAGGGCTCTCTG
TATATCTGGAGTGTGCTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCATCAATGCGGTGGCGTGGTCGCCCTCT
GGCTCGCACGTTGTCAGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGGCTCTCAGGGCTGGGAGGACCCCAGT
GCCCTCCTCAGAAGAAGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATAGCATGGACCTCCCAGAGAAGCTCAA
GCTATGTGGCACTGTAGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGGCCTGGAAGAATAACACTGAAAAAAC
CTGACGCTGCGGTCACTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACCTTCCATACCTCACTTGGGGGAGCAC
AGGGCCCCGCTGGGCCTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTTCTCTGTGCTTTCTCTCGTCCTTCCA
AAGTCGGTTCTGGCCTAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTAAGCATTGGATTAACGGAAACTCCCG
AACTACAGACCCCTCCCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACATCTCTTTCACTGTTCTTCAGAGCTTT
CTGGCTCTCTTTCCCCCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGTTTTTTGTTTTTTTGTTTTTTTGAGG
TGGGAGAGGATGTGTGAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTCCTGTATCGATCTGCAGACACCCAGA
AGGTGGGTGCACACTGCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGAAGGTGGTGATTCTGGCCATGGCCCC
TCTGCCAAGCCTGTGTGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAGCAGCGCCATCTTTCCGTTTCAGGGG
TTGTGATGAAGGCCAAGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTCATTGGGTGTGCGAAACACCCTTTTT
ATCACTTTTAAATTTGCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGTGAGTGTTAGAGCTGGTGAGAGAGGA
GTCAGGTGGCCTTCCCACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCGCTTTCCAATTTGCCCTTCAGAGAAC
TTAAGTCAAGGAGAGTTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGCCAACAGAACTTGATTGTAAATAATA
ATAAAGAAATCTGTTATATACTTTTCAAACTCCA

>22445_22445_3_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000392017_length(amino acids)=405AA_BP=116
MAAAAGAPPPGPPQPPPPPPPEESSDSEPEAEPGSPQKLIRKVSTSGQIRQKTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKS
IIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGSRLLATGGMDRRVKLWEVFGEKCEFKGSLSGSNAGITSIEFDSAGSYLL
AASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSGSHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIR
FWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVIDLRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWS
VLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDKGCKAVLWAQY

--------------------------------------------------------------
>22445_22445_4_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000392018_length(transcript)=2554nt_BP=360nt
TGGCCCGGCAGCATGGCGGCGGCGGCGGGCGCCCCTCCGCCGGGTCCCCCGCAACCGCCTCCGCCGCCGCCGCCCGAGGAGTCGTCCGAC
AGCGAGCCCGAGGCGGAGCCCGGCTCCCCACAGAAGCTCATCCGCAAGGTGTCCACGTCGGGTCAGATCCGACAGAAGACCATCATCAAA
GAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCGAGGGCGAACGCTTTACTATGCCAAA
ACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACG
GATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGTTCCCGGTTACTGGCCACTGGAGGCATGGACCGCAGGGTTAAGCTT
TGGGAAGTATTTGGAGAAAAATGTGAGTTCAAGGGTTCCCTATCTGGCAGTAATGCAGGAATTACAAGCATTGAATTTGATAGTGCTGGA
TCTTACCTCTTAGCAGCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATTACGGCACACACTCACGGGACACAGT
GGGAAAGTGCTGTCTGCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCGGACTCTCAAACTCTGGGATCTACGC
AGCAAAGTCTGCATAAAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCAATGTGTAATGAGTGGACATTTTGAC
AAGAAAATTCGTTTCTGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAAGATTACTGCCCTGGACTTAAACCCA
GAAAGGACTGAGCTCCTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAATGCTATCAAGCAGACATTCAGTGCA
CCTGGGTTCAAGTGCGGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGCGGCAGGCTCTGCTGAGGGCTCTCTG
TATATCTGGAGTGTGCTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCATCAATGCGGTGGCGTGGTCGCCCTCT
GGCTCGCACGTTGTCAGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGGCTCTCAGGGCTGGGAGGACCCCAGT
GCCCTCCTCAGAAGAAGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATAGCATGGACCTCCCAGAGAAGCTCAA
GCTATGTGGCACTGTAGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGGCCTGGAAGAATAACACTGAAAAAAC
CTGACGCTGCGGTCACTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACCTTCCATACCTCACTTGGGGGAGCAC
AGGGCCCCGCTGGGCCTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTTCTCTGTGCTTTCTCTCGTCCTTCCA
AAGTCGGTTCTGGCCTAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTAAGCATTGGATTAACGGAAACTCCCG
AACTACAGACCCCTCCCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACATCTCTTTCACTGTTCTTCAGAGCTTT
CTGGCTCTCTTTCCCCCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGTTTTTTGTTTTTTTGTTTTTTTGAGG
TGGGAGAGGATGTGTGAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTCCTGTATCGATCTGCAGACACCCAGA
AGGTGGGTGCACACTGCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGAAGGTGGTGATTCTGGCCATGGCCCC
TCTGCCAAGCCTGTGTGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAGCAGCGCCATCTTTCCGTTTCAGGGG
TTGTGATGAAGGCCAAGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTCATTGGGTGTGCGAAACACCCTTTTT
ATCACTTTTAAATTTGCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGTGAGTGTTAGAGCTGGTGAGAGAGGA
GTCAGGTGGCCTTCCCACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCGCTTTCCAATTTGCCCTTCAGAGAAC
TTAAGTCAAGGAGAGTTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGCCAACAGAACTTGATTGTAAATAATA
ATAAAGAAATCTGTTATATACTTTTCAAACTCCA

>22445_22445_4_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000392018_length(amino acids)=405AA_BP=116
MAAAAGAPPPGPPQPPPPPPPEESSDSEPEAEPGSPQKLIRKVSTSGQIRQKTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKS
IIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGSRLLATGGMDRRVKLWEVFGEKCEFKGSLSGSNAGITSIEFDSAGSYLL
AASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSGSHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIR
FWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVIDLRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWS
VLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDKGCKAVLWAQY

--------------------------------------------------------------
>22445_22445_5_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000392020_length(transcript)=2554nt_BP=360nt
TGGCCCGGCAGCATGGCGGCGGCGGCGGGCGCCCCTCCGCCGGGTCCCCCGCAACCGCCTCCGCCGCCGCCGCCCGAGGAGTCGTCCGAC
AGCGAGCCCGAGGCGGAGCCCGGCTCCCCACAGAAGCTCATCCGCAAGGTGTCCACGTCGGGTCAGATCCGACAGAAGACCATCATCAAA
GAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCGAGGGCGAACGCTTTACTATGCCAAA
ACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACG
GATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGTTCCCGGTTACTGGCCACTGGAGGCATGGACCGCAGGGTTAAGCTT
TGGGAAGTATTTGGAGAAAAATGTGAGTTCAAGGGTTCCCTATCTGGCAGTAATGCAGGAATTACAAGCATTGAATTTGATAGTGCTGGA
TCTTACCTCTTAGCAGCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATTACGGCACACACTCACGGGACACAGT
GGGAAAGTGCTGTCTGCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCGGACTCTCAAACTCTGGGATCTACGC
AGCAAAGTCTGCATAAAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCAATGTGTAATGAGTGGACATTTTGAC
AAGAAAATTCGTTTCTGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAAGATTACTGCCCTGGACTTAAACCCA
GAAAGGACTGAGCTCCTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAATGCTATCAAGCAGACATTCAGTGCA
CCTGGGTTCAAGTGCGGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGCGGCAGGCTCTGCTGAGGGCTCTCTG
TATATCTGGAGTGTGCTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCATCAATGCGGTGGCGTGGTCGCCCTCT
GGCTCGCACGTTGTCAGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGGCTCTCAGGGCTGGGAGGACCCCAGT
GCCCTCCTCAGAAGAAGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATAGCATGGACCTCCCAGAGAAGCTCAA
GCTATGTGGCACTGTAGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGGCCTGGAAGAATAACACTGAAAAAAC
CTGACGCTGCGGTCACTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACCTTCCATACCTCACTTGGGGGAGCAC
AGGGCCCCGCTGGGCCTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTTCTCTGTGCTTTCTCTCGTCCTTCCA
AAGTCGGTTCTGGCCTAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTAAGCATTGGATTAACGGAAACTCCCG
AACTACAGACCCCTCCCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACATCTCTTTCACTGTTCTTCAGAGCTTT
CTGGCTCTCTTTCCCCCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGTTTTTTGTTTTTTTGTTTTTTTGAGG
TGGGAGAGGATGTGTGAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTCCTGTATCGATCTGCAGACACCCAGA
AGGTGGGTGCACACTGCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGAAGGTGGTGATTCTGGCCATGGCCCC
TCTGCCAAGCCTGTGTGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAGCAGCGCCATCTTTCCGTTTCAGGGG
TTGTGATGAAGGCCAAGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTCATTGGGTGTGCGAAACACCCTTTTT
ATCACTTTTAAATTTGCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGTGAGTGTTAGAGCTGGTGAGAGAGGA
GTCAGGTGGCCTTCCCACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCGCTTTCCAATTTGCCCTTCAGAGAAC
TTAAGTCAAGGAGAGTTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGCCAACAGAACTTGATTGTAAATAATA
ATAAAGAAATCTGTTATATACTTTTCAAACTCCA

>22445_22445_5_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000264057_ATG16L1_chr2_234186214_ENST00000392020_length(amino acids)=405AA_BP=116
MAAAAGAPPPGPPQPPPPPPPEESSDSEPEAEPGSPQKLIRKVSTSGQIRQKTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKS
IIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGSRLLATGGMDRRVKLWEVFGEKCEFKGSLSGSNAGITSIEFDSAGSYLL
AASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSGSHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIR
FWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVIDLRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWS
VLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDKGCKAVLWAQY

--------------------------------------------------------------
>22445_22445_6_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000347464_length(transcript)=2488nt_BP=295nt
AGAGACACGAATATGTTTCAGCCGCAACAGGCTGCGTTTCAGCCGGAAGAGTGAAAGGGCACCTTGAAAACGCAAGTTTATGAATATGTT
TCTGTACTTTCAGACCATCATCAAAGAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCG
AGGGCGAACGCTTTACTATGCCAAAACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTAC
CAAAAACGTCAACAACAGTTTTACGGATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGTTCCCGGTTACTGGCCACTGG
AGGCATGGACCGCAGGGTTAAGCTTTGGGAAGTATTTGGAGAAAAATGTGAGTTCAAGGGTTCCCTATCTGGCAGTAATGCAGGAATTAC
AAGCATTGAATTTGATAGTGCTGGATCTTACCTCTTAGCAGCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATT
ACGGCACACACTCACGGGACACAGTGGGAAAGTGCTGTCTGCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCG
GACTCTCAAACTCTGGGATCTACGCAGCAAAGTCTGCATAAAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCA
ATGTGTAATGAGTGGACATTTTGACAAGAAAATTCGTTTCTGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAA
GATTACTGCCCTGGACTTAAACCCAGAAAGGACTGAGCTCCTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAA
TGCTATCAAGCAGACATTCAGTGCACCTGGGTTCAAGTGCGGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGC
GGCAGGCTCTGCTGAGGGCTCTCTGTATATCTGGAGTGTGCTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCAT
CAATGCGGTGGCGTGGTCGCCCTCTGGCTCGCACGTTGTCAGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGG
CTCTCAGGGCTGGGAGGACCCCAGTGCCCTCCTCAGAAGAAGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATA
GCATGGACCTCCCAGAGAAGCTCAAGCTATGTGGCACTGTAGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGG
CCTGGAAGAATAACACTGAAAAAACCTGACGCTGCGGTCACTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACC
TTCCATACCTCACTTGGGGGAGCACAGGGCCCCGCTGGGCCTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTT
CTCTGTGCTTTCTCTCGTCCTTCCAAAGTCGGTTCTGGCCTAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTA
AGCATTGGATTAACGGAAACTCCCGAACTACAGACCCCTCCCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACAT
CTCTTTCACTGTTCTTCAGAGCTTTCTGGCTCTCTTTCCCCCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGT
TTTTTGTTTTTTTGTTTTTTTGAGGTGGGAGAGGATGTGTGAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTC
CTGTATCGATCTGCAGACACCCAGAAGGTGGGTGCACACTGCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGA
AGGTGGTGATTCTGGCCATGGCCCCTCTGCCAAGCCTGTGTGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAG
CAGCGCCATCTTTCCGTTTCAGGGGTTGTGATGAAGGCCAAGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTC
ATTGGGTGTGCGAAACACCCTTTTTATCACTTTTAAATTTGCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGT
GAGTGTTAGAGCTGGTGAGAGAGGAGTCAGGTGGCCTTCCCACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCG
CTTTCCAATTTGCCCTTCAGAGAACTTAAGTCAAGGAGAGTTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGC
CAACAGAACTTGATTGTAAATAATAATAAAGAAATCTGTTATATACTTTTCAAACTCC

>22445_22445_6_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000347464_length(amino acids)=361AA_BP=72
MNMFLYFQTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKSIIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGSRL
LATGGMDRRVKLWEVFGEKCEFKGSLSGSNAGITSIEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSG
SHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVID
LRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWSVLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDKGCKAVLWAQ
Y

--------------------------------------------------------------
>22445_22445_7_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000373525_length(transcript)=2384nt_BP=295nt
AGAGACACGAATATGTTTCAGCCGCAACAGGCTGCGTTTCAGCCGGAAGAGTGAAAGGGCACCTTGAAAACGCAAGTTTATGAATATGTT
TCTGTACTTTCAGACCATCATCAAAGAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCG
AGGGCGAACGCTTTACTATGCCAAAACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTAC
CAAAAACGTCAACAACAGTTTTACGGATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGAATTACAAGCATTGAATTTGA
TAGTGCTGGATCTTACCTCTTAGCAGCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATTACGGCACACACTCAC
GGGACACAGTGGGAAAGTGCTGTCTGCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCGGACTCTCAAACTCTG
GGATCTACGCAGCAAAGTCTGCATAAAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCAATGTGTAATGAGTGG
ACATTTTGACAAGAAAATTCGTTTCTGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAAGATTACTGCCCTGGA
CTTAAACCCAGAAAGGACTGAGCTCCTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAATGCTATCAAGCAGAC
ATTCAGTGCACCTGGGTTCAAGTGCGGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGCGGCAGGCTCTGCTGA
GGGCTCTCTGTATATCTGGAGTGTGCTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCATCAATGCGGTGGCGTG
GTCGCCCTCTGGCTCGCACGTTGTCAGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGGCTCTCAGGGCTGGGA
GGACCCCAGTGCCCTCCTCAGAAGAAGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATAGCATGGACCTCCCAG
AGAAGCTCAAGCTATGTGGCACTGTAGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGGCCTGGAAGAATAACA
CTGAAAAAACCTGACGCTGCGGTCACTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACCTTCCATACCTCACTT
GGGGGAGCACAGGGCCCCGCTGGGCCTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTTCTCTGTGCTTTCTCT
CGTCCTTCCAAAGTCGGTTCTGGCCTAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTAAGCATTGGATTAACG
GAAACTCCCGAACTACAGACCCCTCCCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACATCTCTTTCACTGTTCT
TCAGAGCTTTCTGGCTCTCTTTCCCCCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGTTTTTTGTTTTTTTGT
TTTTTTGAGGTGGGAGAGGATGTGTGAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTCCTGTATCGATCTGCA
GACACCCAGAAGGTGGGTGCACACTGCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGAAGGTGGTGATTCTGG
CCATGGCCCCTCTGCCAAGCCTGTGTGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAGCAGCGCCATCTTTCC
GTTTCAGGGGTTGTGATGAAGGCCAAGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTCATTGGGTGTGCGAAA
CACCCTTTTTATCACTTTTAAATTTGCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGTGAGTGTTAGAGCTGG
TGAGAGAGGAGTCAGGTGGCCTTCCCACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCGCTTTCCAATTTGCCC
TTCAGAGAACTTAAGTCAAGGAGAGTTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGCCAACAGAACTTGATT
GTAAATAATAATAAAGAAATCTGTTATATACTTTTCAAACTCCA

>22445_22445_7_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000373525_length(amino acids)=326AA_BP=72
MNMFLYFQTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKSIIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGITS
IEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSGSHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQC
VMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVIDLRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAA
GSAEGSLYIWSVLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDKGCKAVLWAQY

--------------------------------------------------------------
>22445_22445_8_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000392017_length(transcript)=2489nt_BP=295nt
AGAGACACGAATATGTTTCAGCCGCAACAGGCTGCGTTTCAGCCGGAAGAGTGAAAGGGCACCTTGAAAACGCAAGTTTATGAATATGTT
TCTGTACTTTCAGACCATCATCAAAGAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCG
AGGGCGAACGCTTTACTATGCCAAAACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTAC
CAAAAACGTCAACAACAGTTTTACGGATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGTTCCCGGTTACTGGCCACTGG
AGGCATGGACCGCAGGGTTAAGCTTTGGGAAGTATTTGGAGAAAAATGTGAGTTCAAGGGTTCCCTATCTGGCAGTAATGCAGGAATTAC
AAGCATTGAATTTGATAGTGCTGGATCTTACCTCTTAGCAGCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATT
ACGGCACACACTCACGGGACACAGTGGGAAAGTGCTGTCTGCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCG
GACTCTCAAACTCTGGGATCTACGCAGCAAAGTCTGCATAAAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCA
ATGTGTAATGAGTGGACATTTTGACAAGAAAATTCGTTTCTGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAA
GATTACTGCCCTGGACTTAAACCCAGAAAGGACTGAGCTCCTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAA
TGCTATCAAGCAGACATTCAGTGCACCTGGGTTCAAGTGCGGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGC
GGCAGGCTCTGCTGAGGGCTCTCTGTATATCTGGAGTGTGCTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCAT
CAATGCGGTGGCGTGGTCGCCCTCTGGCTCGCACGTTGTCAGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGG
CTCTCAGGGCTGGGAGGACCCCAGTGCCCTCCTCAGAAGAAGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATA
GCATGGACCTCCCAGAGAAGCTCAAGCTATGTGGCACTGTAGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGG
CCTGGAAGAATAACACTGAAAAAACCTGACGCTGCGGTCACTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACC
TTCCATACCTCACTTGGGGGAGCACAGGGCCCCGCTGGGCCTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTT
CTCTGTGCTTTCTCTCGTCCTTCCAAAGTCGGTTCTGGCCTAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTA
AGCATTGGATTAACGGAAACTCCCGAACTACAGACCCCTCCCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACAT
CTCTTTCACTGTTCTTCAGAGCTTTCTGGCTCTCTTTCCCCCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGT
TTTTTGTTTTTTTGTTTTTTTGAGGTGGGAGAGGATGTGTGAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTC
CTGTATCGATCTGCAGACACCCAGAAGGTGGGTGCACACTGCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGA
AGGTGGTGATTCTGGCCATGGCCCCTCTGCCAAGCCTGTGTGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAG
CAGCGCCATCTTTCCGTTTCAGGGGTTGTGATGAAGGCCAAGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTC
ATTGGGTGTGCGAAACACCCTTTTTATCACTTTTAAATTTGCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGT
GAGTGTTAGAGCTGGTGAGAGAGGAGTCAGGTGGCCTTCCCACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCG
CTTTCCAATTTGCCCTTCAGAGAACTTAAGTCAAGGAGAGTTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGC
CAACAGAACTTGATTGTAAATAATAATAAAGAAATCTGTTATATACTTTTCAAACTCCA

>22445_22445_8_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000392017_length(amino acids)=361AA_BP=72
MNMFLYFQTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKSIIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGSRL
LATGGMDRRVKLWEVFGEKCEFKGSLSGSNAGITSIEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSG
SHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVID
LRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWSVLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDKGCKAVLWAQ
Y

--------------------------------------------------------------
>22445_22445_9_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000392018_length(transcript)=2489nt_BP=295nt
AGAGACACGAATATGTTTCAGCCGCAACAGGCTGCGTTTCAGCCGGAAGAGTGAAAGGGCACCTTGAAAACGCAAGTTTATGAATATGTT
TCTGTACTTTCAGACCATCATCAAAGAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCG
AGGGCGAACGCTTTACTATGCCAAAACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTAC
CAAAAACGTCAACAACAGTTTTACGGATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGTTCCCGGTTACTGGCCACTGG
AGGCATGGACCGCAGGGTTAAGCTTTGGGAAGTATTTGGAGAAAAATGTGAGTTCAAGGGTTCCCTATCTGGCAGTAATGCAGGAATTAC
AAGCATTGAATTTGATAGTGCTGGATCTTACCTCTTAGCAGCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATT
ACGGCACACACTCACGGGACACAGTGGGAAAGTGCTGTCTGCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCG
GACTCTCAAACTCTGGGATCTACGCAGCAAAGTCTGCATAAAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCA
ATGTGTAATGAGTGGACATTTTGACAAGAAAATTCGTTTCTGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAA
GATTACTGCCCTGGACTTAAACCCAGAAAGGACTGAGCTCCTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAA
TGCTATCAAGCAGACATTCAGTGCACCTGGGTTCAAGTGCGGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGC
GGCAGGCTCTGCTGAGGGCTCTCTGTATATCTGGAGTGTGCTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCAT
CAATGCGGTGGCGTGGTCGCCCTCTGGCTCGCACGTTGTCAGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGG
CTCTCAGGGCTGGGAGGACCCCAGTGCCCTCCTCAGAAGAAGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATA
GCATGGACCTCCCAGAGAAGCTCAAGCTATGTGGCACTGTAGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGG
CCTGGAAGAATAACACTGAAAAAACCTGACGCTGCGGTCACTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACC
TTCCATACCTCACTTGGGGGAGCACAGGGCCCCGCTGGGCCTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTT
CTCTGTGCTTTCTCTCGTCCTTCCAAAGTCGGTTCTGGCCTAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTA
AGCATTGGATTAACGGAAACTCCCGAACTACAGACCCCTCCCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACAT
CTCTTTCACTGTTCTTCAGAGCTTTCTGGCTCTCTTTCCCCCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGT
TTTTTGTTTTTTTGTTTTTTTGAGGTGGGAGAGGATGTGTGAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTC
CTGTATCGATCTGCAGACACCCAGAAGGTGGGTGCACACTGCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGA
AGGTGGTGATTCTGGCCATGGCCCCTCTGCCAAGCCTGTGTGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAG
CAGCGCCATCTTTCCGTTTCAGGGGTTGTGATGAAGGCCAAGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTC
ATTGGGTGTGCGAAACACCCTTTTTATCACTTTTAAATTTGCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGT
GAGTGTTAGAGCTGGTGAGAGAGGAGTCAGGTGGCCTTCCCACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCG
CTTTCCAATTTGCCCTTCAGAGAACTTAAGTCAAGGAGAGTTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGC
CAACAGAACTTGATTGTAAATAATAATAAAGAAATCTGTTATATACTTTTCAAACTCCA

>22445_22445_9_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000392018_length(amino acids)=361AA_BP=72
MNMFLYFQTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKSIIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGSRL
LATGGMDRRVKLWEVFGEKCEFKGSLSGSNAGITSIEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSG
SHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVID
LRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWSVLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDKGCKAVLWAQ
Y

--------------------------------------------------------------
>22445_22445_10_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000392020_length(transcript)=2489nt_BP=295nt
AGAGACACGAATATGTTTCAGCCGCAACAGGCTGCGTTTCAGCCGGAAGAGTGAAAGGGCACCTTGAAAACGCAAGTTTATGAATATGTT
TCTGTACTTTCAGACCATCATCAAAGAGGGGATGCTGACCAAACAGAACAATTCATTCCAGCGATCAAAAAGGAGATACTTTAAGCTTCG
AGGGCGAACGCTTTACTATGCCAAAACGGCAAAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTAC
CAAAAACGTCAACAACAGTTTTACGGATGCACATGATGGGGAAGTCAACGCTGTGCAGTTCAGTCCAGGTTCCCGGTTACTGGCCACTGG
AGGCATGGACCGCAGGGTTAAGCTTTGGGAAGTATTTGGAGAAAAATGTGAGTTCAAGGGTTCCCTATCTGGCAGTAATGCAGGAATTAC
AAGCATTGAATTTGATAGTGCTGGATCTTACCTCTTAGCAGCTTCAAATGATTTTGCAAGCCGAATCTGGACTGTGGATGATTATCGATT
ACGGCACACACTCACGGGACACAGTGGGAAAGTGCTGTCTGCTAAGTTCCTGCTGGACAATGCGCGGATTGTCTCAGGAAGTCACGACCG
GACTCTCAAACTCTGGGATCTACGCAGCAAAGTCTGCATAAAGACAGTGTTTGCAGGATCCAGTTGCAATGATATTGTCTGCACAGAGCA
ATGTGTAATGAGTGGACATTTTGACAAGAAAATTCGTTTCTGGGACATTCGATCAGAGAGCATAGTTCGAGAGATGGAGCTGTTGGGAAA
GATTACTGCCCTGGACTTAAACCCAGAAAGGACTGAGCTCCTGAGCTGCTCCCGTGATGACTTGCTAAAAGTTATTGATCTCCGAACAAA
TGCTATCAAGCAGACATTCAGTGCACCTGGGTTCAAGTGCGGCTCTGACTGGACCAGAGTTGTCTTCAGCCCTGATGGCAGTTACGTGGC
GGCAGGCTCTGCTGAGGGCTCTCTGTATATCTGGAGTGTGCTCACAGGGAAAGTGGAAAAGGTTCTTTCAAAGCAGCACAGCTCATCCAT
CAATGCGGTGGCGTGGTCGCCCTCTGGCTCGCACGTTGTCAGTGTGGACAAAGGATGCAAAGCTGTGCTGTGGGCACAGTACTGACGGGG
CTCTCAGGGCTGGGAGGACCCCAGTGCCCTCCTCAGAAGAAGCACATGGGCTCCTGCAGCCCTGTCCTGGCAGGTGATGTGCTGGGTATA
GCATGGACCTCCCAGAGAAGCTCAAGCTATGTGGCACTGTAGCTTTGCCGTGAATGGGATTTCTGAAGATTTGACTGAGGTCTCTCTTGG
CCTGGAAGAATAACACTGAAAAAACCTGACGCTGCGGTCACTTAGCAGAGGCTCAGGTTCTTGCCTTGGGAAACACTACTAGCTCTGACC
TTCCATACCTCACTTGGGGGAGCACAGGGCCCCGCTGGGCCTCCTCACCAACGGCAGTGCCAAAATCAGCCCCCACATCAAGGTGGTGTT
CTCTGTGCTTTCTCTCGTCCTTCCAAAGTCGGTTCTGGCCTAACGCATGTCCCAACACCTTGGGTTCATTTGCCCGGTGAACTCACTTTA
AGCATTGGATTAACGGAAACTCCCGAACTACAGACCCCTCCCTGGTGGGTTGCATGAATGTGTCTCATTACTGCTGAAATGTCCTCACAT
CTCTTTCACTGTTCTTCAGAGCTTTCTGGCTCTCTTTCCCCCACAAAATTCGACATATTTAAAAATCTCCGTGTGGCTTTAAAAAATGGT
TTTTTGTTTTTTTGTTTTTTTGAGGTGGGAGAGGATGTGTGAAAATCTTTTCCAGGGAAATGGGTTCGCTGCAGAGGTAAGGATGTGTTC
CTGTATCGATCTGCAGACACCCAGAAGGTGGGTGCACACTGCATGCTTGGGGGTGCCAAGGGATTCGAGACCTCCAACATACTTGTCTGA
AGGTGGTGATTCTGGCCATGGCCCCTCTGCCAAGCCTGTGTGCGATGCCCTTGGTGCTTTAGTGCAAGAAGCCTAGGCTCAGAAGCACAG
CAGCGCCATCTTTCCGTTTCAGGGGTTGTGATGAAGGCCAAGGAAAAACATTTATCTTTACTATTTTACCTACGTATAAAGTTTTAGTTC
ATTGGGTGTGCGAAACACCCTTTTTATCACTTTTAAATTTGCACTTTATTTTTTTTCTTCCATGCTTGTTCTCTGGACATTTGGGGATGT
GAGTGTTAGAGCTGGTGAGAGAGGAGTCAGGTGGCCTTCCCACCGATGGTCCTGGCCTCCACCTGCCCTCTCTTCCCTGCCTGATCACCG
CTTTCCAATTTGCCCTTCAGAGAACTTAAGTCAAGGAGAGTTGAAATTCACAGGCCAGGGCACATCTTTTATTTATTTCATTATGTTGGC
CAACAGAACTTGATTGTAAATAATAATAAAGAAATCTGTTATATACTTTTCAAACTCCA

>22445_22445_10_DGKD-ATG16L1_DGKD_chr2_234299129_ENST00000409813_ATG16L1_chr2_234186214_ENST00000392020_length(amino acids)=361AA_BP=72
MNMFLYFQTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKSIIFDEVDLTDASVAESSTKNVNNSFTDAHDGEVNAVQFSPGSRL
LATGGMDRRVKLWEVFGEKCEFKGSLSGSNAGITSIEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSG
SHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVID
LRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWSVLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVDKGCKAVLWAQ
Y

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

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Fusion Gene PPI Analysis for DGKD-ATG16L1


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
TgeneATG16L1chr2:234299129chr2:234186214ENST0000034746441413_43155.0445.0ATG5
TgeneATG16L1chr2:234299129chr2:234186214ENST0000037352551513_43174.0429.0ATG5
TgeneATG16L1chr2:234299129chr2:234186214ENST0000039201781813_43318.0608.0ATG5
TgeneATG16L1chr2:234299129chr2:234186214ENST0000039202071713_43299.0589.0ATG5


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 DGKD-ATG16L1


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 DGKD-ATG16L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDGKDC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC1970207Inflammatory Bowel Disease 1011CTD_human;UNIPROT
TgeneC0010346Crohn Disease2CTD_human;GENOMICS_ENGLAND
TgeneC0156147Crohn's disease of large bowel2CTD_human
TgeneC0267380Crohn's disease of the ileum2CTD_human
TgeneC0678202Regional enteritis2CTD_human
TgeneC0949272IIeocolitis2CTD_human
TgeneC0021390Inflammatory Bowel Diseases1CTD_human