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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:FAM172A-FHIT (FusionGDB2 ID:28700)

Fusion Gene Summary for FAM172A-FHIT

Fusion gene summary

Fusion gene information	Fusion gene name: FAM172A-FHIT
	Fusion gene ID: 28700
		Hgene	Tgene
	Gene symbol	FAM172A	FHIT
	Gene ID	83989	2272
	Gene name	family with sequence similarity 172 member A	fragile histidine triad diadenosine triphosphatase
	Synonyms	C5orf21\|Toupee	AP3Aase\|FRA3B
	Cytomap	5q15	3p14.2
	Type of gene	protein-coding	protein-coding
	Description	cotranscriptional regulator FAM172Aprotein FAM172A	bis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase
	Modification date	20200313	20200313
	UniProtAcc	Q8WUF8	P49789
	Ensembl transtripts involved in fusion gene	ENST00000395965, ENST00000509163, ENST00000504768, ENST00000505869, ENST00000509739,	ENST00000341848, ENST00000466788, ENST00000468189, ENST00000476844, ENST00000492590,
Fusion gene scores	* DoF score	18 X 17 X 8=2448	27 X 20 X 11=5940
	# samples	23	32
	** MAII score	log2(23/2448*10)=-3.41189779174828 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(32/5940*10)=-4.21431912080077 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: FAM172A [Title/Abstract] AND FHIT [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	FAM172A(93294482)-FHIT(59738047), # samples:3
Anticipated loss of major functional domain due to fusion event.	FAM172A-FHIT seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. FAM172A-FHIT seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. FAM172A-FHIT seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. FAM172A-FHIT seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted 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	FHIT	GO:0006163	purine nucleotide metabolic process	9323207

Fusion gene breakpoints across FAM172A (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 FHIT (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	KIRC	TCGA-B2-4101-01A	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-

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Fusion Gene ORF analysis for FAM172A-FHIT

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
5CDS-5UTR	ENST00000395965	ENST00000341848	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5CDS-5UTR	ENST00000395965	ENST00000466788	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5CDS-5UTR	ENST00000395965	ENST00000468189	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5CDS-5UTR	ENST00000509163	ENST00000341848	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5CDS-5UTR	ENST00000509163	ENST00000466788	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5CDS-5UTR	ENST00000509163	ENST00000468189	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5UTR-3CDS	ENST00000504768	ENST00000476844	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5UTR-3CDS	ENST00000504768	ENST00000492590	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5UTR-5UTR	ENST00000504768	ENST00000341848	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5UTR-5UTR	ENST00000504768	ENST00000466788	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
5UTR-5UTR	ENST00000504768	ENST00000468189	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
Frame-shift	ENST00000509163	ENST00000476844	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
Frame-shift	ENST00000509163	ENST00000492590	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
In-frame	ENST00000395965	ENST00000476844	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
In-frame	ENST00000395965	ENST00000492590	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-3CDS	ENST00000505869	ENST00000476844	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-3CDS	ENST00000505869	ENST00000492590	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-3CDS	ENST00000509739	ENST00000476844	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-3CDS	ENST00000509739	ENST00000492590	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-5UTR	ENST00000505869	ENST00000341848	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-5UTR	ENST00000505869	ENST00000466788	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-5UTR	ENST00000505869	ENST00000468189	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-5UTR	ENST00000509739	ENST00000341848	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-5UTR	ENST00000509739	ENST00000466788	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-
intron-5UTR	ENST00000509739	ENST00000468189	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-

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)
ENST00000395965	FAM172A	chr5	93294482	-	ENST00000476844	FHIT	chr3	59738047	-	1070	710	140	805	221
ENST00000395965	FAM172A	chr5	93294482	-	ENST00000492590	FHIT	chr3	59738047	-	1081	710	140	805	221

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
ENST00000395965	ENST00000476844	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-	0.003369195	0.99663085
ENST00000395965	ENST00000492590	FAM172A	chr5	93294482	-	FHIT	chr3	59738047	-	0.00328497	0.99671507

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Fusion Genomic Features for FAM172A-FHIT

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 FAM172A-FHIT

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:93294482/chr3:59738047)
- 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
FAM172A Q8WUF8	FHIT P49789
FUNCTION: Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity. {ECO:0000250\|UniProtKB:Q3TNH5}.	FUNCTION: Possesses dinucleoside triphosphate hydrolase activity (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9576908, PubMed:9543008). Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9576908, PubMed:9543008). Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP (PubMed:8794732). Exhibits adenylylsulfatase activity, hydrolyzing adenosine 5'-phosphosulfate to yield AMP and sulfate (PubMed:18694747). Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:18694747). Exhibits adenylylsulfate-ammonia adenylyltransferase, catalyzing the ammonolysis of adenosine 5'-phosphosulfate resulting in the formation of adenosine 5'-phosphoramidate (PubMed:26181368). Also catalyzes the ammonolysis of adenosine 5-phosphorofluoridate and diadenosine triphosphate (PubMed:26181368). Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5 (PubMed:18077326). Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways (PubMed:16407838). Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptosis (PubMed:15313915). Induction of apoptosis depends on the ability of FHIT to bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity, it may in part come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake (PubMed:12574506, PubMed:19622739). Functions as tumor suppressor (By similarity). {ECO:0000250\|UniProtKB:O89106, ECO:0000269\|PubMed:12574506, ECO:0000269\|PubMed:15313915, ECO:0000269\|PubMed:16407838, ECO:0000269\|PubMed:18077326, ECO:0000269\|PubMed:18694747, ECO:0000269\|PubMed:19622739, ECO:0000269\|PubMed:26181368, ECO:0000269\|PubMed:8794732, ECO:0000269\|PubMed:9323207, ECO:0000269\|PubMed:9543008}.

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

Hgene

FAM172A

chr5:93294482

chr3:59738047

ENST00000395965

413_416

189

417.0

Motif

Prevents secretion from ER

Hgene

FAM172A

chr5:93294482

chr3:59738047

ENST00000505869

413_416

307.0

Motif

Prevents secretion from ER

Hgene

FAM172A

chr5:93294482

chr3:59738047

ENST00000509163

413_416

143

371.0

Motif

Prevents secretion from ER

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000341848

2_109

116

148.0

Domain

HIT

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000468189

2_109

116

148.0

Domain

HIT

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000476844

2_109

116

214.0

Domain

HIT

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000492590

2_109

116

205.33333333333334

Domain

HIT

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000341848

94_98

116

148.0

Motif

Histidine triad motif

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000468189

94_98

116

148.0

Motif

Histidine triad motif

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000476844

94_98

116

214.0

Motif

Histidine triad motif

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000492590

94_98

116

205.33333333333334

Motif

Histidine triad motif

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000341848

89_92

116

148.0

Nucleotide binding

Substrate

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000468189

89_92

116

148.0

Nucleotide binding

Substrate

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000476844

89_92

116

214.0

Nucleotide binding

Substrate

Tgene

FHIT

chr5:93294482

chr3:59738047

ENST00000492590

89_92

116

205.33333333333334

Nucleotide binding

Substrate

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Fusion Gene Sequence for FAM172A-FHIT

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.

>28700_28700_1_FAM172A-FHIT_FAM172A_chr5_93294482_ENST00000395965_FHIT_chr3_59738047_ENST00000476844_length(transcript)=1070nt_BP=710nt
GGTCGGGGCGCGGATCCCGAGAGGGAAAGTCATAACAACCGCACGAGGGAGTTCGACTGGCGAACTGGAAGGCCACGCCTCCTCCCGCCT
GCCCCCTCAGCCCTGTGGCTGGGGGCAGAGCTCAGACTGTCTTCTGAAGATTGATGTCTATTTCCTTGAGCTCTTTAATTTTGTTGCCAA
TTTGGATAAACATGGCACAAATCCAGCAGGGAGGTCCAGATGAAAAAGAAAAGACTACCGCACTGAAAGATTTATTATCTAGGATAGATT
TGGATGAACTAATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTGGAAGGATTTGAATATGCTTTTAATGAAAAGGGACAGT
TAAGACACATAAAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTACACAGATGGAACCAGAAAAGATACGAGGCTCTAGGAG
AGATCATCACGAAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAAAAAGTATCTATTCCAGTAGATGCCACTGAGAGTGAAC
CAAAGAGTTTTATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTGATGGTTTTAATTCATGGTAGTGGTGTTGTCAGGGCAG
GGCAGTGGGCTAGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAGATACCGTTTATTAAAAGAGCTGTGGCTCTCCAGAAAC
ATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAAATGGCAGCAGAAGCCGCAGCTCTGCGGGTCTACTTTCAGTGACACA
GATCCTGAATTCCAGCAAAAGAGCTATTGCCAACCAGTTTGAAGACCGCCCCCCGCCTCTCCCCAAGAGGAACTGAATCAGCATGAAAAT
GCAGTTTCTTCATCTCACCATCCTGTATTCTTCAACCAGTGATCCCCCACCTCGGTCACTCCAACTCCCTTAAAATACCTAGACCTAAAC

>28700_28700_1_FAM172A-FHIT_FAM172A_chr5_93294482_ENST00000395965_FHIT_chr3_59738047_ENST00000476844_length(amino acids)=221AA_BP=190
MMSISLSSLILLPIWINMAQIQQGGPDEKEKTTALKDLLSRIDLDELMKKDEPPLDFPDTLEGFEYAFNEKGQLRHIKTGEPFVFNYRED
LHRWNQKRYEALGEIITKYVYELLEKDCNLKKVSIPVDATESEPKSFIFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGT

--------------------------------------------------------------
>28700_28700_2_FAM172A-FHIT_FAM172A_chr5_93294482_ENST00000395965_FHIT_chr3_59738047_ENST00000492590_length(transcript)=1081nt_BP=710nt
GGTCGGGGCGCGGATCCCGAGAGGGAAAGTCATAACAACCGCACGAGGGAGTTCGACTGGCGAACTGGAAGGCCACGCCTCCTCCCGCCT
GCCCCCTCAGCCCTGTGGCTGGGGGCAGAGCTCAGACTGTCTTCTGAAGATTGATGTCTATTTCCTTGAGCTCTTTAATTTTGTTGCCAA
TTTGGATAAACATGGCACAAATCCAGCAGGGAGGTCCAGATGAAAAAGAAAAGACTACCGCACTGAAAGATTTATTATCTAGGATAGATT
TGGATGAACTAATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTGGAAGGATTTGAATATGCTTTTAATGAAAAGGGACAGT
TAAGACACATAAAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTACACAGATGGAACCAGAAAAGATACGAGGCTCTAGGAG
AGATCATCACGAAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAAAAAGTATCTATTCCAGTAGATGCCACTGAGAGTGAAC
CAAAGAGTTTTATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTGATGGTTTTAATTCATGGTAGTGGTGTTGTCAGGGCAG
GGCAGTGGGCTAGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAGATACCGTTTATTAAAAGAGCTGTGGCTCTCCAGAAAC
ATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAAATGGCAGCAGAAGCCGCAGCTCTGCGGGTCTACTTTCAGTGACACA
GATGTTTTTCAGATCCTGAATTCCAGCAAAAGAGCTATTGCCAACCAGTTTGAAGACCGCCCCCCGCCTCTCCCCAAGAGGAACTGAATC
AGCATGAAAATGCAGTTTCTTCATCTCACCATCCTGTATTCTTCAACCAGTGATCCCCCACCTCGGTCACTCCAACTCCCTTAAAATACC
TAGACCTAAACGGCTCAGACAGGCAGATTTGAGGTTTCCCCCTGTCTCCTTATTCGGCAGCCTTATGATTAAACTTCCTTCTCTGCTGCA

>28700_28700_2_FAM172A-FHIT_FAM172A_chr5_93294482_ENST00000395965_FHIT_chr3_59738047_ENST00000492590_length(amino acids)=221AA_BP=190
MMSISLSSLILLPIWINMAQIQQGGPDEKEKTTALKDLLSRIDLDELMKKDEPPLDFPDTLEGFEYAFNEKGQLRHIKTGEPFVFNYRED
LHRWNQKRYEALGEIITKYVYELLEKDCNLKKVSIPVDATESEPKSFIFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGT

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

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Fusion Gene PPI Analysis for FAM172A-FHIT

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 FAM172A-FHIT

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 FAM172A-FHIT

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source