	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 34554

FusionGeneSummary for SLC4A1AP_GPN1

Fusion gene summary

Fusion gene information	Fusion gene name: SLC4A1AP_GPN1
	Fusion gene ID: 34554
		Hgene	Tgene
	Gene symbol	SLC4A1AP	GPN1
	Gene ID	22950	11321
	Gene name	solute carrier family 4 member 1 adaptor protein	GPN-loop GTPase 1
	Synonyms	HLC3	ATPBD1A\|MBDIN\|NTPBP\|RPAP4\|XAB1
	Cytomap	2p23.3	2p23.3
	Type of gene	protein-coding	protein-coding
	Description	kanadaptinHLC-3human lung cancer oncogene 3 proteinkidney anion exchanger adapter proteinkidney anion exchanger adaptor proteinlung cancer oncogene 3solute carrier family 4 (anion exchanger), member 1, adapter proteinsolute carrier family 4 (anion	GPN-loop GTPase 1ATP(GTP)-binding proteinMBD2-interacting proteinRNA polymerase II associated protein 4RNAPII-associated protein 4XPA binding protein 1, GTPase
	Modification date	20180523	20180523
	UniProtAcc	Q9BWU0	Q9HCN4
	Ensembl transtripts involved in fusion gene	ENST00000326019,	ENST00000515877, ENST00000503738, ENST00000458167, ENST00000424214, ENST00000407583, ENST00000264718, ENST00000610189, ENST00000461249,
Fusion gene scores	* DoF score	2 X 2 X 2=8	3 X 3 X 4=36
	# samples	2	4
	** MAII score	log2(2/8*10)=1.32192809488736	log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: SLC4A1AP [Title/Abstract] AND GPN1 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Oncogene involved fusion gene, in-frame and retained their domain.

* 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
TCGA	RV	GBM	TCGA-06-0743-01A	SLC4A1AP	chr2	27892254	+	GPN1	chr2	27870703	+

* 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
In-frame	ENST00000326019	ENST00000515877	SLC4A1AP	chr2	27892254	+	GPN1	chr2	27870703	+
In-frame	ENST00000326019	ENST00000503738	SLC4A1AP	chr2	27892254	+	GPN1	chr2	27870703	+
In-frame	ENST00000326019	ENST00000458167	SLC4A1AP	chr2	27892254	+	GPN1	chr2	27870703	+
In-frame	ENST00000326019	ENST00000424214	SLC4A1AP	chr2	27892254	+	GPN1	chr2	27870703	+
In-frame	ENST00000326019	ENST00000407583	SLC4A1AP	chr2	27892254	+	GPN1	chr2	27870703	+
In-frame	ENST00000326019	ENST00000264718	SLC4A1AP	chr2	27892254	+	GPN1	chr2	27870703	+
In-frame	ENST00000326019	ENST00000610189	SLC4A1AP	chr2	27892254	+	GPN1	chr2	27870703	+
5CDS-3UTR	ENST00000326019	ENST00000461249	SLC4A1AP	chr2	27892254	+	GPN1	chr2	27870703	+

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FusionProtFeatures for SLC4A1AP_GPN1

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

Hgene	Tgene
SLC4A1AP Q9BWU0	GPN1 Q9HCN4
	Small GTPase required for proper nuclear import of RNApolymerase II (RNAPII) (PubMed:20855544, PubMed:21768307). May actat an RNAP assembly step prior to nuclear import(PubMed:21768307). Forms an interface between the RNA polymeraseII enzyme and chaperone/scaffolding proteins, suggesting that itis required to connect RNA polymerase II to regulators of proteincomplex formation (PubMed:17643375). May be involved in nuclearlocalization of XPA (PubMed:11058119).{ECO:0000269\|PubMed:17643375, ECO:0000269\|PubMed:20855544,ECO:0000269\|PubMed:21768307, ECO:0000305\|PubMed:11058119}.

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

SLC4A1AP

chr2:27892254

chr2:27870703

ENST00000326019

189_249

448

797

Domain

FHA

- 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

SLC4A1AP

chr2:27892254

chr2:27870703

ENST00000326019

497_530

448

797

Coiled coil

Ontology_term=ECO:0000255

Hgene

SLC4A1AP

chr2:27892254

chr2:27870703

ENST00000326019

644_715

448

797

Compositional bias

Note=Glu-rich

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000407583

86_88

298

363

Motif

Gly-Pro-Asn (GPN)-loop%3B involved in dimer interface

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000424214

86_88

231

296

Motif

Gly-Pro-Asn (GPN)-loop%3B involved in dimer interface

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000458167

86_88

215

280

Motif

Gly-Pro-Asn (GPN)-loop%3B involved in dimer interface

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000503738

86_88

215

280

Motif

Gly-Pro-Asn (GPN)-loop%3B involved in dimer interface

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000515877

86_88

231

296

Motif

Gly-Pro-Asn (GPN)-loop%3B involved in dimer interface

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000407583

189_192

298

363

Nucleotide binding

GTP

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000407583

29_34

298

363

Nucleotide binding

GTP

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000424214

189_192

231

296

Nucleotide binding

GTP

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000424214

29_34

231

296

Nucleotide binding

GTP

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000458167

189_192

215

280

Nucleotide binding

GTP

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000458167

29_34

215

280

Nucleotide binding

GTP

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000503738

189_192

215

280

Nucleotide binding

GTP

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000503738

29_34

215

280

Nucleotide binding

GTP

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000515877

189_192

231

296

Nucleotide binding

GTP

Tgene

GPN1

chr2:27892254

chr2:27870703

ENST00000515877

29_34

231

296

Nucleotide binding

GTP

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FusionGeneSequence for SLC4A1AP_GPN1

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 SLC4A1AP_GPN1

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
SLC4A1AP	SLC4A1, APP, WIPF2, KDM1A, EIF4B, CSNK2A1, SRPK1, WWOX, ASB3, TCF4, SNRPA1, RBM7, RBM11, ZRSR2, FAM177A1, DCLK1, MCM4, TPM2, NTRK1, EWSR1, SMEK1, PPP4R2, MTMR1, SSH3, SNRPE, SNRPG, SNRPN, TCEANC2, SNRPF, CYLD	GPN1	MBD2, ZBED1, XPA, WDR48, RPAP2, RPAP3, POLR2J, RPAP1, CCT5, HNRNPH1, PIH1D1, POLR2B, POLR3A, CCT4, HNRNPU, TCP1, POLR2A, URI1, POLR3E, POLR3B, KPNA2, RUVBL1, EFTUD2, CCT8, HSPA8, CCT6A, HSP90AB1, HSP90AA2P, GPN3, PUF60, HNRNPH2, TCOF1, MED17, HNRNPD, ARMCX3, HSPA9, DDB1, UBC, CUL3, CUL5, CDK19, BRCA1, CSNK2A1, SOX2, AGFG1, ALAD, C14orf142, C18orf25, CBS, CRTAP, DBNL, P3H1, PPME1, SURF2, HSPBP1, OGT, GPN2, POLR2M, POLR2G, XPO1, POLR2F, XRCC3, POLR1A, WWP2, LMO2, RPRD1B

- 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 SLC4A1AP_GPN1

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 SLC4A1AP_GPN1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	GPN1	C0026640	Mouth Neoplasms	1	CTD_human

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Fusion gene ID: 34554

FusionGeneSummary for SLC4A1AP_GPN1

FusionProtFeatures for SLC4A1AP_GPN1

FusionGeneSequence for SLC4A1AP_GPN1

FusionGenePPI for SLC4A1AP_GPN1

RelatedDrugs for SLC4A1AP_GPN1

RelatedDiseases for SLC4A1AP_GPN1