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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:ALG14-JAK1 (FusionGDB2 ID:4116)

Fusion Gene Summary for ALG14-JAK1

Fusion gene summary

Fusion gene information	Fusion gene name: ALG14-JAK1
	Fusion gene ID: 4116
		Hgene	Tgene
	Gene symbol	ALG14	JAK1
	Gene ID	199857	3716
	Gene name	ALG14 UDP-N-acetylglucosaminyltransferase subunit	Janus kinase 1
	Synonyms	CMS15	JAK1A\|JAK1B\|JTK3
	Cytomap	1p21.3	1p31.3
	Type of gene	protein-coding	protein-coding
	Description	UDP-N-acetylglucosamine transferase subunit ALG14 homolog	tyrosine-protein kinase JAK1
	Modification date	20200313	20200327
	UniProtAcc	.	P23458
	Ensembl transtripts involved in fusion gene	ENST00000370205, ENST00000495856,	ENST00000342505, ENST00000465376,
Fusion gene scores	* DoF score	8 X 5 X 5=200	19 X 18 X 6=2052
	# samples	8	19
	** MAII score	log2(8/200*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(19/2052*10)=-3.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ALG14 [Title/Abstract] AND JAK1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ALG14(95492685)-JAK1(65313358), # samples:2
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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	JAK1	GO:0038110	interleukin-2-mediated signaling pathway	11909529
Tgene	JAK1	GO:0046677	response to antibiotic	16280321

Fusion gene breakpoints across ALG14 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across JAK1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	BLCA	TCGA-DK-AA6R-01A	ALG14	chr1	95492685	-	JAK1	chr1	65313358	-
ChimerDB4	BLCA	TCGA-DK-AA6R-01A	ALG14	chr1	95492685	-	JAK1	chr1	65313358	-

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Fusion Gene ORF analysis for ALG14-JAK1

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
In-frame	ENST00000370205	ENST00000342505	ALG14	chr1	95492685	-	JAK1	chr1	65313358	-
5CDS-5UTR	ENST00000370205	ENST00000465376	ALG14	chr1	95492685	-	JAK1	chr1	65313358	-
intron-3CDS	ENST00000495856	ENST00000342505	ALG14	chr1	95492685	-	JAK1	chr1	65313358	-
intron-5UTR	ENST00000495856	ENST00000465376	ALG14	chr1	95492685	-	JAK1	chr1	65313358	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

ENST00000370205

ALG14

chr1

95492685

ENST00000342505

JAK1

chr1

65313358

3510

467

2176

722

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000370205	ENST00000342505	ALG14	chr1	95492685	-	JAK1	chr1	65313358	-	0.000602672	0.9993973

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Fusion Genomic Features for ALG14-JAK1

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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 ALG14-JAK1

Go to
FGviewer for the breakpoints of chr1:95492685-chr1:65313358
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	JAK1 P23458
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: Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:7615558). Kinase partner for the interleukin (IL)-2 receptor (PubMed:11909529) as well as interleukin (IL)-10 receptor (PubMed:12133952). {ECO:0000269\|PubMed:11909529, ECO:0000269\|PubMed:7615558}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

ALG14

chr1:95492685

chr1:65313358

ENST00000370205

1_3

140.0

217.0

Topological domain

Lumenal

Hgene

ALG14

chr1:95492685

chr1:65313358

ENST00000370205

4_24

140.0

217.0

Transmembrane

Helical

Tgene

JAK1

chr1:95492685

chr1:65313358

ENST00000342505

583_855

585.0

1155.0

Domain

Protein kinase 1

Tgene

JAK1

chr1:95492685

chr1:65313358

ENST00000342505

875_1153

585.0

1155.0

Domain

Protein kinase 2

Tgene

JAK1

chr1:95492685

chr1:65313358

ENST00000342505

881_889

585.0

1155.0

Nucleotide binding

ATP

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

ALG14

chr1:95492685

chr1:65313358

ENST00000370205

25_216

140.0

217.0

Topological domain

Cytoplasmic

Tgene

JAK1

chr1:95492685

chr1:65313358

ENST00000342505

34_420

585.0

1155.0

Domain

FERM

Tgene

JAK1

chr1:95492685

chr1:65313358

ENST00000342505

439_544

585.0

1155.0

Domain

SH2

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Fusion Gene Sequence for ALG14-JAK1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>In-frame_ENST00000370205_ENST00000342505_TCGA-DK-AA6R-01A_ALG14_chr1_95492685_-_JAK1_chr1_65313358_length(transcript)=3510nt_BP=467nt
GACAGCGGCTGGTCCCCGGAAGTTGGACGCATGCGCCGTTTCTCTGCATGGTGTGCGTTCTCGTTCTAGCTGCGGCCGCAGGAGCTGTGG
CGGTTTTCCTAATCCTGCGAATATGGGTAGTGCTTCGTTCCATGGACGTTACGCCCCGGGAGTCTCTCAGTATCTTGGTAGTGGCTGGGT
CCGGTGGGCATACCACTGAGATCCTGAGGCTGCTTGGGAGCTTGTCCAATGCCTACTCACCTAGACATTATGTCATTGCTGACACTGATG
AAATGAGTGCCAATAAAATAAATTCTTTTGAACTAGATCGAGCTGATAGAGACCCTAGTAACATGTATACCAAATACTACATTCACCGAA
TTCCAAGAAGCCGGGAGGTTCAGCAGTCCTGGCCCTCCACCGTTTTCACCACCTTGCACTCCATGTGGCTCTCCTTTCCCCTAATTCACA
GGGTGAAGCCAGATTTGGGCGAGCACCTTGGGAGAGGCACGAGAACACACATCTATTCTGGGACCCTGATGGATTACAAGGATGACGAAG
GAACTTCTGAAGAGAAGAAGATAAAAGTGATCCTCAAAGTCTTAGACCCCAGCCACAGGGATATTTCCCTGGCCTTCTTCGAGGCAGCCA
GCATGATGAGACAGGTCTCCCACAAACACATCGTGTACCTCTATGGCGTCTGTGTCCGCGACGTGGAGAATATCATGGTGGAAGAGTTTG
TGGAAGGGGGTCCTCTGGATCTCTTCATGCACCGGAAAAGCGATGTCCTTACCACACCATGGAAATTCAAAGTTGCCAAACAGCTGGCCA
GTGCCCTGAGCTACTTGGAGGATAAAGACCTGGTCCATGGAAATGTGTGTACTAAAAACCTCCTCCTGGCCCGTGAGGGCATCGACAGTG
AGTGTGGCCCATTCATCAAGCTCAGTGACCCCGGCATCCCCATTACGGTGCTGTCTAGGCAAGAATGCATTGAACGAATCCCATGGATTG
CTCCTGAGTGTGTTGAGGACTCCAAGAACCTGAGTGTGGCTGCTGACAAGTGGAGCTTTGGAACCACGCTCTGGGAAATCTGCTACAATG
GCGAGATCCCCTTGAAAGACAAGACGCTGATTGAGAAAGAGAGATTCTATGAAAGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGC
TGGCTGACCTCATGACCCGCTGCATGAACTATGACCCCAATCAGAGGCCTTTCTTCCGAGCCATCATGAGAGACATTAATAAGCTTGAAG
AGCAGAATCCAGATATTGTTTCAGAAAAAAAACCAGCAACTGAAGTGGACCCCACACATTTTGAAAAGCGCTTCCTAAAGAGGATCCGTG
ACTTGGGAGAGGGCCACTTTGGGAAGGTTGAGCTCTGCAGGTATGACCCCGAAGGGGACAATACAGGGGAGCAGGTGGCTGTTAAATCTC
TGAAGCCTGAGAGTGGAGGTAACCACATAGCTGATCTGAAAAAGGAAATCGAGATCTTAAGGAACCTCTATCATGAGAACATTGTGAAGT
ACAAAGGAATCTGCACAGAAGACGGAGGAAATGGTATTAAGCTCATCATGGAATTTCTGCCTTCGGGAAGCCTTAAGGAATATCTTCCAA
AGAATAAGAACAAAATAAACCTCAAACAGCAGCTAAAATATGCCGTTCAGATTTGTAAGGGGATGGACTATTTGGGTTCTCGGCAATACG
TTCACCGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGAGTGAACACCAAGTGAAAATTGGAGACTTCGGTTTAACCAAAGCAATTGAAA
CCGATAAGGAGTATTACACCGTCAAGGATGACCGGGACAGCCCTGTGTTTTGGTATGCTCCAGAATGTTTAATGCAATCTAAATTTTATA
TTGCCTCTGACGTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTGACTTACTGTGATTCAGATTCTAGTCCCATGGCTTTGTTCCTGA
AAATGATAGGCCCAACCCATGGCCAGATGACAGTCACAAGACTTGTGAATACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCTAACT
GTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGAATTCCAACCATCCAATCGGACAAGCTTTCAGAACCTTATTGAAGGATTTG
AAGCACTTTTAAAATAAGAAGCATGAATAACATTTAAATTCCACAGATTATCAAGTCCTTCTCCTGCAACAAATGCCCAAGTCATTTTTT
AAAAATTTCTAATGAAAGAAGTTTGTGTTCTGTCCAAAAAGTCACTGAACTCATACTTCAGTACATATACATGTATAAGGCACACTGTAG
TGCTTAATATGTGTAAGGACTTCCTCTTTAAATTTGGTACCAGTAACTTAGTGACACATAATGACAACCAAAATATTTGAAAGCACTTAA
GCACTCCTCCTTGTGGAAAGAATATACCACCATTTCATCTGGCTAGTTCACCATCACAACTGCATTACCAAAAGGGGATTTTTGAAAACG
AGGAGTTGACCAAAATAATATCTGAAGATGATTGCTTTTCCCTGCTGCCAGCTGATCTGAAATGTTTTGCTGGCACATTAATCATAGATA
AAGAAAGATTGATGGACTTAGCCCTCAAATTTCAGTATCTATACAGTACTAGACCATGCATTCTTAAAATATTAGATACCAGGTAGTATA
TATTGTTTCTGTACAAAAATGACTGTATTCTCTCACCAGTAGGACTTAAACTTTGTTTCTCCAGTGGCTTAGCTCCTGTTCCTTTGGGTG
ATCACTAGCACCCATTTTTGAGAAAGCTGGTTCTACATGGGGGGATAGCTGTGGAATAGATAATTTGCTGCATGTTAATTCTCAAGAACT
AAGCCTGTGCCAGTGCTTTCCTAAGCAGTATACCTTTAATCAGAACTCATTCCCAGAACCTGGATGCTATTACACATGCTTTTAAGAAAC
GTCAATGTATATCCTTTTATAACTCTACCACTTTGGGGCAAGCTATTCCAGCACTGGTTTTGAATGCTGTATGCAACCAGTCTGAATACC
ACATACGCTGCACTGTTCTTAGAGGGTTTCCATACTTACCACCGATCTACAAGGGTTGATCCCTGTTTTTACCATCAATCATCACCCTGT
GGTGCAACACTTGAAAGACCCGGCTAGAGGCACTATGGACTTCAGGATCCACTAGACAGTTTTCAGTTTGCTTGGAGGTAGCTGGGTAAT
CAAAAATGTTTAGTCATTGATTCAATGTGAACGATTACGGTCTTTATGACCAAGAGTCTGAAAATCTTTTTGTTATGCTGTTTAGTATTC
GTTTGATATTGTTACTTTTCACCTGTTGAGCCCAAATTCAGGATTGGTTCAGTGGCAGCAATGAAGTTGCCATTTAAATTTGTTCATAGC
CTACATCACCAAGGTCTCTGTGTCAAACCTGTGGCCACTCTATATGCACTTTGTTTACTCTTTATACAAATAAATATACTAAAGACTTTA

>In-frame_ENST00000370205_ENST00000342505_TCGA-DK-AA6R-01A_ALG14_chr1_95492685_-_JAK1_chr1_65313358_length(amino acids)=722AA_start in transcript=8_stop in transcript=2176
MVPGSWTHAPFLCMVCVLVLAAAAGAVAVFLILRIWVVLRSMDVTPRESLSILVVAGSGGHTTEILRLLGSLSNAYSPRHYVIADTDEMS
ANKINSFELDRADRDPSNMYTKYYIHRIPRSREVQQSWPSTVFTTLHSMWLSFPLIHRVKPDLGEHLGRGTRTHIYSGTLMDYKDDEGTS
EEKKIKVILKVLDPSHRDISLAFFEAASMMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASAL
SYLEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSKNLSVAADKWSFGTTLWEICYNGEI
PLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDPNQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLG
EGHFGKVELCRYDPEGDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLPSGSLKEYLPKNK
NKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGLTKAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIAS
DVWSFGVTLHELLTYCDSDSSPMALFLKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEAL

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

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Fusion Gene PPI Analysis for ALG14-JAK1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for ALG14-JAK1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Tgene	JAK1	P23458	DB08877	Ruxolitinib	Inhibitor	Small molecule	Approved
Tgene	JAK1	P23458	DB08877	Ruxolitinib	Inhibitor	Small molecule	Approved
Tgene	JAK1	P23458	DB08877	Ruxolitinib	Inhibitor	Small molecule	Approved
Tgene	JAK1	P23458	DB08895	Tofacitinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB08895	Tofacitinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB08895	Tofacitinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB11817	Baricitinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB11817	Baricitinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB11817	Baricitinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB12010	Fostamatinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB12010	Fostamatinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB12010	Fostamatinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB12500	Fedratinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB12500	Fedratinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB12500	Fedratinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB14845	Filgotinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB14845	Filgotinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB14845	Filgotinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB15091	Upadacitinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB15091	Upadacitinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB15091	Upadacitinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB15822	Pralsetinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB15822	Pralsetinib	Inhibitor	Small molecule	Approved\|Investigational
Tgene	JAK1	P23458	DB15822	Pralsetinib	Inhibitor	Small molecule	Approved\|Investigational

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Related Diseases for ALG14-JAK1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ALG14	C4015596	MYASTHENIC SYNDROME, CONGENITAL, 15	3	GENOMICS_ENGLAND;UNIPROT
Hgene	ALG14	C0751882	Myasthenic Syndromes, Congenital	1	CTD_human;GENOMICS_ENGLAND
Hgene	ALG14	C3714756	Intellectual Disability	1	GENOMICS_ENGLAND
Tgene	JAK1	C0033578	Prostatic Neoplasms	1	CTD_human
Tgene	JAK1	C0376358	Malignant neoplasm of prostate	1	CTD_human
Tgene	JAK1	C1540912	Hypereosinophilic syndrome	1	GENOMICS_ENGLAND