	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 16500

FusionGeneSummary for HN1L_SERPINH1

Fusion gene summary

Fusion gene information	Fusion gene name: HN1L_SERPINH1
	Fusion gene ID: 16500
		Hgene	Tgene
	Gene symbol	HN1L	SERPINH1
	Gene ID	57585	871
	Gene name	cramped chromatin regulator homolog 1	serpin family H member 1
	Synonyms	CRAMP1L\|HN1L\|TCE4	AsTP3\|CBP1\|CBP2\|HSP47\|OI10\|PIG14\|PPROM\|RA-A47\|SERPINH2\|gp46
	Cytomap	16p13.3	11q13.5
	Type of gene	protein-coding	protein-coding
	Description	protein cramped-likeCrm, cramped-likeT-complex expressed gene 4hematological 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	20180523	20180523
	UniProtAcc		P50454
	Ensembl transtripts involved in fusion gene	ENST00000569256, ENST00000248098, ENST00000562684, ENST00000561516, ENST00000382711, ENST00000569765, ENST00000382710,	ENST00000533603, ENST00000358171, ENST00000530284, ENST00000524558, ENST00000525876,
Fusion gene scores	* DoF score	6 X 6 X 2=72	4 X 3 X 3=36
	# samples	7	4
	** MAII score	log2(7/72*10)=-0.0406419844973459 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: HN1L [Title/Abstract] AND SERPINH1 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* 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 information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BI044399	HN1L	chr16	1749315	+	SERPINH1	chr11	75282935	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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	+

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FusionProtFeatures for HN1L_SERPINH1

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

Hgene	Tgene
HN1L	SERPINH1 P50454
Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269\|PubMed:10224141, ECO:0000269\|PubMed:28301481}.	Binds specifically to collagen. Could be involved as achaperone in the biosynthetic pathway of collagen.

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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FusionGeneSequence for HN1L_SERPINH1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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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RelatedDrugs for HN1L_SERPINH1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases 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	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	C0740392	Infarction, Middle Cerebral Artery	1	CTD_human
Tgene	SERPINH1	C3151211	OSTEOGENESIS IMPERFECTA, TYPE X	1	UNIPROT

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Fusion gene ID: 16500

FusionGeneSummary for HN1L_SERPINH1

FusionProtFeatures for HN1L_SERPINH1

FusionGeneSequence for HN1L_SERPINH1

FusionGenePPI for HN1L_SERPINH1

RelatedDrugs for HN1L_SERPINH1

RelatedDiseases for HN1L_SERPINH1