	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 20499

FusionGeneSummary for MACF1_C1D

Fusion gene summary

Fusion gene information	Fusion gene name: MACF1_C1D
	Fusion gene ID: 20499
		Hgene	Tgene
	Gene symbol	MACF1	C1D
	Gene ID	23499	10438
	Gene name	microtubule-actin crosslinking factor 1	C1D nuclear receptor corepressor
	Synonyms	ABP620\|ACF7\|MACF\|OFC4	LRP1\|Rrp47\|SUN-CoR\|SUNCOR\|hC1D
	Cytomap	1p34.3	2p14
	Type of gene	protein-coding	protein-coding
	Description	microtubule-actin cross-linking factor 1620 kDa actin binding proteinactin cross-linking family protein 7macrophin 1 isoformtrabeculin-alpha	nuclear nucleic acid-binding protein C1DC1D DNA-binding proteinC1D nuclear receptor co-repressornuclear DNA-binding proteinsmall unique nuclear receptor co-repressorsmall unique nuclear receptor corepressor
	Modification date	20180523	20180519
	UniProtAcc	Q9UPN3	Q13901
	Ensembl transtripts involved in fusion gene	ENST00000545844, ENST00000567887, ENST00000372915, ENST00000361689, ENST00000539005, ENST00000317713, ENST00000564288, ENST00000289893, ENST00000536367, ENST00000484793, ENST00000602421, ENST00000476350,	ENST00000355848, ENST00000407324, ENST00000410067, ENST00000409302, ENST00000470189,
Fusion gene scores	* DoF score	21 X 18 X 11=4158	4 X 3 X 3=36
	# samples	21	4
	** MAII score	log2(21/4158*10)=-4.30742852519225 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: MACF1 [Title/Abstract] AND C1D [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
Hgene	MACF1	GO:0030334	regulation of cell migration	27693509
Hgene	MACF1	GO:0043001	Golgi to plasma membrane protein transport	15265687
Hgene	MACF1	GO:0045773	positive regulation of axon extension	22705394
Hgene	MACF1	GO:0051893	regulation of focal adhesion assembly	27693509

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			BC017884	MACF1	chr1	39688637	+	C1D	chr2	68290122	-

* 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
intron-intron	ENST00000545844	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000545844	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000545844	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000545844	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000545844	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000567887	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000567887	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000567887	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000567887	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000567887	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000372915	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000372915	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000372915	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000372915	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000372915	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000361689	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000361689	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000361689	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000361689	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000361689	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000539005	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000539005	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000539005	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000539005	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000539005	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000317713	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000317713	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000317713	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000317713	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000317713	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000564288	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000564288	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000564288	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000564288	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000564288	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000289893	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000289893	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000289893	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000289893	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000289893	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000536367	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000536367	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000536367	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000536367	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000536367	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000484793	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000484793	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000484793	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000484793	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000484793	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000602421	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000602421	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000602421	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000602421	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000602421	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000476350	ENST00000355848	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000476350	ENST00000407324	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000476350	ENST00000410067	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-5UTR	ENST00000476350	ENST00000409302	MACF1	chr1	39688637	+	C1D	chr2	68290122	-
intron-intron	ENST00000476350	ENST00000470189	MACF1	chr1	39688637	+	C1D	chr2	68290122	-

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FusionProtFeatures for MACF1_C1D

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

Hgene	Tgene
MACF1 Q9UPN3	C1D Q13901
	Plays a role in the recruitment of the RNA exosomecomplex to pre-rRNA to mediate the 3'-5' end processing of the5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDCnot only in the presence of linear DNA but also in the presence ofsupercoiled DNA. Can induce apoptosis in a p53/TP53 dependentmanner. May regulate the TRAX/TSN complex formation. Potentiatestranscriptional repression by NR1D1 and THRB (By similarity).{ECO:0000250, ECO:0000269\|PubMed:10362552,ECO:0000269\|PubMed:11801738, ECO:0000269\|PubMed:17412707,ECO:0000269\|PubMed:9679063}.

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 MACF1_C1D

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 MACF1_C1D

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 MACF1_C1D

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 MACF1_C1D

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	C1D	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET

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Fusion gene ID: 20499

FusionGeneSummary for MACF1_C1D

FusionProtFeatures for MACF1_C1D

FusionGeneSequence for MACF1_C1D

FusionGenePPI for MACF1_C1D

RelatedDrugs for MACF1_C1D

RelatedDiseases for MACF1_C1D