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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:HN1L-SERPINH1 (FusionGDB2 ID:36843)

Fusion Gene Summary for HN1L-SERPINH1

Fusion gene summary

Fusion gene information	Fusion gene name: HN1L-SERPINH1
	Fusion gene ID: 36843
		Hgene	Tgene
	Gene symbol	HN1L	SERPINH1
	Gene ID	90861	871
	Gene name	Jupiter microtubule associated homolog 2	serpin family H member 1
	Synonyms	C16orf34\|HN1L\|L11	AsTP3\|CBP1\|CBP2\|HSP47\|OI10\|PIG14\|PPROM\|RA-A47\|SERPINH2\|gp46
	Cytomap	16p13.3	11q13.5
	Type of gene	protein-coding	protein-coding
	Description	jupiter microtubule associated homolog 2CRAMP_1 likeHN1 likeHN1-like proteinhematological and neurological expressed 1 likehematological and neurological expressed 1-like protein	serpin H147 kDa heat shock proteinarsenic-transactivated protein 3cell proliferation-inducing gene 14 proteincollagen binding protein 1colligin-1colligin-2rheumatoid arthritis antigen A-47rheumatoid arthritis-related antigen RA-A47serine (or cyst
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000569256, ENST00000248098, ENST00000562684, ENST00000561516, ENST00000382711, ENST00000569765, ENST00000382710,	ENST00000533603, ENST00000358171, ENST00000530284, ENST00000524558, ENST00000525876,
Fusion gene scores	* DoF score	9 X 9 X 3=243	5 X 5 X 3=75
	# samples	10	6
	** MAII score	log2(10/243*10)=-1.28095631383106 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: HN1L [Title/Abstract] AND SERPINH1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	HN1L(1749315)-SERPINH1(75282935), # 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)

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

Fusion gene breakpoints across HN1L (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 SERPINH1 (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
ChiTaRS5.0	N/A	BI044399	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+

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Fusion Gene ORF analysis for HN1L-SERPINH1

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
3UTR-3CDS	ENST00000569256	ENST00000533603	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-3CDS	ENST00000569256	ENST00000358171	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000569256	ENST00000530284	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000569256	ENST00000524558	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000569256	ENST00000525876	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-3CDS	ENST00000248098	ENST00000533603	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-3CDS	ENST00000248098	ENST00000358171	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000248098	ENST00000530284	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000248098	ENST00000524558	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000248098	ENST00000525876	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-3CDS	ENST00000562684	ENST00000533603	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-3CDS	ENST00000562684	ENST00000358171	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000562684	ENST00000530284	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000562684	ENST00000524558	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000562684	ENST00000525876	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-3CDS	ENST00000561516	ENST00000533603	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-3CDS	ENST00000561516	ENST00000358171	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000561516	ENST00000530284	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000561516	ENST00000524558	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
3UTR-intron	ENST00000561516	ENST00000525876	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-3CDS	ENST00000382711	ENST00000533603	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-3CDS	ENST00000382711	ENST00000358171	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-intron	ENST00000382711	ENST00000530284	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-intron	ENST00000382711	ENST00000524558	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-intron	ENST00000382711	ENST00000525876	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-3CDS	ENST00000569765	ENST00000533603	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-3CDS	ENST00000569765	ENST00000358171	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-intron	ENST00000569765	ENST00000530284	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-intron	ENST00000569765	ENST00000524558	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-intron	ENST00000569765	ENST00000525876	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-3CDS	ENST00000382710	ENST00000533603	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-3CDS	ENST00000382710	ENST00000358171	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-intron	ENST00000382710	ENST00000530284	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-intron	ENST00000382710	ENST00000524558	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+
intron-intron	ENST00000382710	ENST00000525876	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+

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)

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

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Fusion Genomic Features for HN1L-SERPINH1

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 HN1L-SERPINH1

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.

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

Hgene	Tgene
.	.
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.

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

- 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

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Fusion Gene Sequence for HN1L-SERPINH1

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 HN1L-SERPINH1

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 HN1L-SERPINH1

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

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Related Diseases for HN1L-SERPINH1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	SERPINH1	C0023893	Liver Cirrhosis, Experimental	2	CTD_human
Tgene	SERPINH1	C0268362	Osteogenesis imperfecta type III (disorder)	2	GENOMICS_ENGLAND;ORPHANET
Tgene	SERPINH1	C0022116	Ischemia	1	CTD_human
Tgene	SERPINH1	C0023890	Liver Cirrhosis	1	CTD_human
Tgene	SERPINH1	C0035222	Respiratory Distress Syndrome, Adult	1	CTD_human
Tgene	SERPINH1	C0238281	Middle Cerebral Artery Syndrome	1	CTD_human
Tgene	SERPINH1	C0239946	Fibrosis, Liver	1	CTD_human
Tgene	SERPINH1	C0729264	Preterm premature rupture of membranes (disorder)	1	CTD_human;GENOMICS_ENGLAND
Tgene	SERPINH1	C0740376	Middle Cerebral Artery Thrombosis	1	CTD_human
Tgene	SERPINH1	C0740391	Middle Cerebral Artery Occlusion	1	CTD_human
Tgene	SERPINH1	C0740392	Infarction, Middle Cerebral Artery	1	CTD_human
Tgene	SERPINH1	C0751845	Middle Cerebral Artery Embolus	1	CTD_human
Tgene	SERPINH1	C0751846	Left Middle Cerebral Artery Infarction	1	CTD_human
Tgene	SERPINH1	C0751847	Embolic Infarction, Middle Cerebral Artery	1	CTD_human
Tgene	SERPINH1	C0751848	Thrombotic Infarction, Middle Cerebral Artery	1	CTD_human
Tgene	SERPINH1	C0751849	Right Middle Cerebral Artery Infarction	1	CTD_human
Tgene	SERPINH1	C3151211	OSTEOGENESIS IMPERFECTA, TYPE X	1	CTD_human;GENOMICS_ENGLAND;UNIPROT