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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:FANCA-GRWD1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: FANCA-GRWD1
	FusionPDB ID: 29307
	FusionGDB2.0 ID: 29307
		Hgene	Tgene
	Gene symbol	FANCA	GRWD1
	Gene ID	2175	83743
	Gene name	FA complementation group A	glutamate rich WD repeat containing 1
	Synonyms	FA\|FA-H\|FA1\|FAA\|FACA\|FAH\|FANCH	CDW4\|GRWD\|RRB1\|WDR28
	Cytomap	16q24.3	19q13.33
	Type of gene	protein-coding	protein-coding
	Description	Fanconi anemia group A proteinFanconi anemia complementation group AFanconi anemia, complementation group HFanconi anemia, type 1	glutamate-rich WD repeat-containing protein 1CUL4- and DDB1-associated WDR protein 4WD repeat domain 28glutamate rich WD repeat protein GRWDregulator of ribosome biogenesis 1 homolog
	Modification date	20200313	20200329
	UniProtAcc	O15360	Q9BQ67
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000389301, ENST00000389302, ENST00000534992, ENST00000563673, ENST00000568369, ENST00000543736, ENST00000567284,	ENST00000253237,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	13 X 12 X 5=780	4 X 5 X 3=60
	# samples	13	4
	** MAII score	log2(13/780*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/60*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: FANCA [Title/Abstract] AND GRWD1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	FANCA(89877114)-GRWD1(48953569), # samples:1
Anticipated loss of major functional domain due to fusion event.	FANCA-GRWD1 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. FANCA-GRWD1 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. FANCA-GRWD1 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. FANCA-GRWD1 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.

* 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	GRWD1	GO:0006334	nucleosome assembly	25990725

Fusion gene breakpoints across FANCA (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 GRWD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	STAD	TCGA-BR-A4J9	FANCA	chr16	89877114	-	GRWD1	chr19	48953569	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000389301	FANCA	chr16	89877114	-	ENST00000253237	GRWD1	chr19	48953569	+	5423	553	31	1425	464
ENST00000568369	FANCA	chr16	89877114	-	ENST00000253237	GRWD1	chr19	48953569	+	5423	553	31	1425	464
ENST00000389302	FANCA	chr16	89877114	-	ENST00000253237	GRWD1	chr19	48953569	+	5434	564	42	1436	464
ENST00000563673	FANCA	chr16	89877114	-	ENST00000253237	GRWD1	chr19	48953569	+	5412	542	20	1414	464
ENST00000534992	FANCA	chr16	89877114	-	ENST00000253237	GRWD1	chr19	48953569	+	5432	562	40	1434	464

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
ENST00000389301	ENST00000253237	FANCA	chr16	89877114	-	GRWD1	chr19	48953569	+	0.02946337	0.9705366
ENST00000568369	ENST00000253237	FANCA	chr16	89877114	-	GRWD1	chr19	48953569	+	0.02946337	0.9705366
ENST00000389302	ENST00000253237	FANCA	chr16	89877114	-	GRWD1	chr19	48953569	+	0.029687112	0.9703129
ENST00000563673	ENST00000253237	FANCA	chr16	89877114	-	GRWD1	chr19	48953569	+	0.029957386	0.9700426
ENST00000534992	ENST00000253237	FANCA	chr16	89877114	-	GRWD1	chr19	48953569	+	0.029675974	0.970324

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>29307_29307_1_FANCA-GRWD1_FANCA_chr16_89877114_ENST00000389301_GRWD1_chr19_48953569_ENST00000253237_length(amino acids)=464AA_BP=173
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHS
SSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQVSWLGE
EPVAGVWSEKGQVEVFALRRLLQVVEEPQALAAFLRDEQAQMKPIFSFAGHMGEGFALDWSPRVTGRLLTGDCQKNIHLWTPTDGGSWHV
DQRPFVGHTRSVEDLQWSPTENTVFASCSADASIRIWDIRAAPSKACMLTTATAHDGDVNVISWSRREPFLLSGGDDGALKIWDLRQFKS
GSPVATFKQHVAPVTSVEWHPQDSGVFAASGADHQITQWDLAVERDPEAGDVEADPGLADLPQQLLFVHQGETELKELHWHPQCPGLLVS

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

>29307_29307_2_FANCA-GRWD1_FANCA_chr16_89877114_ENST00000389302_GRWD1_chr19_48953569_ENST00000253237_length(amino acids)=464AA_BP=173
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHS
SSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQVSWLGE
EPVAGVWSEKGQVEVFALRRLLQVVEEPQALAAFLRDEQAQMKPIFSFAGHMGEGFALDWSPRVTGRLLTGDCQKNIHLWTPTDGGSWHV
DQRPFVGHTRSVEDLQWSPTENTVFASCSADASIRIWDIRAAPSKACMLTTATAHDGDVNVISWSRREPFLLSGGDDGALKIWDLRQFKS
GSPVATFKQHVAPVTSVEWHPQDSGVFAASGADHQITQWDLAVERDPEAGDVEADPGLADLPQQLLFVHQGETELKELHWHPQCPGLLVS

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

>29307_29307_3_FANCA-GRWD1_FANCA_chr16_89877114_ENST00000534992_GRWD1_chr19_48953569_ENST00000253237_length(amino acids)=464AA_BP=173
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHS
SSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQVSWLGE
EPVAGVWSEKGQVEVFALRRLLQVVEEPQALAAFLRDEQAQMKPIFSFAGHMGEGFALDWSPRVTGRLLTGDCQKNIHLWTPTDGGSWHV
DQRPFVGHTRSVEDLQWSPTENTVFASCSADASIRIWDIRAAPSKACMLTTATAHDGDVNVISWSRREPFLLSGGDDGALKIWDLRQFKS
GSPVATFKQHVAPVTSVEWHPQDSGVFAASGADHQITQWDLAVERDPEAGDVEADPGLADLPQQLLFVHQGETELKELHWHPQCPGLLVS

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

>29307_29307_4_FANCA-GRWD1_FANCA_chr16_89877114_ENST00000563673_GRWD1_chr19_48953569_ENST00000253237_length(amino acids)=464AA_BP=173
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHS
SSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQVSWLGE
EPVAGVWSEKGQVEVFALRRLLQVVEEPQALAAFLRDEQAQMKPIFSFAGHMGEGFALDWSPRVTGRLLTGDCQKNIHLWTPTDGGSWHV
DQRPFVGHTRSVEDLQWSPTENTVFASCSADASIRIWDIRAAPSKACMLTTATAHDGDVNVISWSRREPFLLSGGDDGALKIWDLRQFKS
GSPVATFKQHVAPVTSVEWHPQDSGVFAASGADHQITQWDLAVERDPEAGDVEADPGLADLPQQLLFVHQGETELKELHWHPQCPGLLVS

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

>29307_29307_5_FANCA-GRWD1_FANCA_chr16_89877114_ENST00000568369_GRWD1_chr19_48953569_ENST00000253237_length(amino acids)=464AA_BP=173
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHS
SSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQVSWLGE
EPVAGVWSEKGQVEVFALRRLLQVVEEPQALAAFLRDEQAQMKPIFSFAGHMGEGFALDWSPRVTGRLLTGDCQKNIHLWTPTDGGSWHV
DQRPFVGHTRSVEDLQWSPTENTVFASCSADASIRIWDIRAAPSKACMLTTATAHDGDVNVISWSRREPFLLSGGDDGALKIWDLRQFKS
GSPVATFKQHVAPVTSVEWHPQDSGVFAASGADHQITQWDLAVERDPEAGDVEADPGLADLPQQLLFVHQGETELKELHWHPQCPGLLVS

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:89877114/chr19:48953569)
- 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.

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

Hgene	Tgene
FANCA O15360	GRWD1 Q9BQ67
FUNCTION: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.	FUNCTION: Histone binding-protein that regulates chromatin dynamics and minichromosome maintenance (MCM) loading at replication origins, possibly by promoting chromatin openness (PubMed:25990725). {ECO:0000269\|PubMed:25990725}.

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.

- 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

FANCA

chr16:89877114

chr19:48953569

ENST00000389301

18_34

174.0

1456.0

Motif

Nuclear localization signal

Hgene

FANCA

chr16:89877114

chr19:48953569

ENST00000389302

18_34

174.0

298.0

Motif

Nuclear localization signal

Tgene

GRWD1

chr16:89877114

chr19:48953569

ENST00000253237

163_204

156.0

447.0

Repeat

Note=WD 2

Tgene

GRWD1

chr16:89877114

chr19:48953569

ENST00000253237

205_250

156.0

447.0

Repeat

Note=WD 3

Tgene

GRWD1

chr16:89877114

chr19:48953569

ENST00000253237

251_297

156.0

447.0

Repeat

Note=WD 4

Tgene

GRWD1

chr16:89877114

chr19:48953569

ENST00000253237

298_343

156.0

447.0

Repeat

Note=WD 5

Tgene

GRWD1

chr16:89877114

chr19:48953569

ENST00000253237

344_405

156.0

447.0

Repeat

Note=WD 6

Tgene

GRWD1

chr16:89877114

chr19:48953569

ENST00000253237

406_442

156.0

447.0

Repeat

Note=WD 7

- 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

Tgene

GRWD1

chr16:89877114

chr19:48953569

ENST00000253237

123_136

156.0

447.0

Compositional bias

Note=Asp/Glu-rich (acidic)

Tgene

GRWD1

chr16:89877114

chr19:48953569

ENST00000253237

54_110

156.0

447.0

Repeat

Note=WD 1

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
FANCA
GRWD1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to FANCA-GRWD1

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to FANCA-GRWD1

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source