	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 33699

FusionGeneSummary for SH3TC2_SH3TC2

Fusion gene summary

Fusion gene information	Fusion gene name: SH3TC2_SH3TC2
	Fusion gene ID: 33699
		Hgene	Tgene
	Gene symbol	SH3TC2	SH3TC2
	Gene ID	79628	79628
	Gene name	SH3 domain and tetratricopeptide repeats 2	SH3 domain and tetratricopeptide repeats 2
	Synonyms	CMT4C\|MNMN	CMT4C\|MNMN
	Cytomap	5q32	5q32
	Type of gene	protein-coding	protein-coding
	Description	SH3 domain and tetratricopeptide repeat-containing protein 2SH3 domain and tetratricopeptide repeats-containing protein 2	SH3 domain and tetratricopeptide repeat-containing protein 2SH3 domain and tetratricopeptide repeats-containing protein 2
	Modification date	20180421	20180421
	UniProtAcc	Q8TF17	Q8TF17
	Ensembl transtripts involved in fusion gene	ENST00000538184, ENST00000502274, ENST00000515425, ENST00000512049, ENST00000394358, ENST00000513340,	ENST00000538184, ENST00000502274, ENST00000515425, ENST00000512049, ENST00000394358, ENST00000513340,
Fusion gene scores	* DoF score	1 X 2 X 1=2	2 X 3 X 2=12
	# samples	2	3
	** MAII score	log2(2/2*10)=3.32192809488736	log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: SH3TC2 [Title/Abstract] AND SH3TC2 [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			AV726151	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
ChiTaRS3.1			AJ413271	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+

* 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	ENST00000538184	ENST00000538184	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000538184	ENST00000502274	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000538184	ENST00000515425	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000538184	ENST00000512049	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000538184	ENST00000394358	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000538184	ENST00000513340	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000502274	ENST00000538184	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000502274	ENST00000502274	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000502274	ENST00000515425	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000502274	ENST00000512049	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000502274	ENST00000394358	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000502274	ENST00000513340	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000515425	ENST00000538184	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000515425	ENST00000502274	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000515425	ENST00000515425	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000515425	ENST00000512049	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000515425	ENST00000394358	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000515425	ENST00000513340	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000512049	ENST00000538184	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000512049	ENST00000502274	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000512049	ENST00000515425	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000512049	ENST00000512049	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000512049	ENST00000394358	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000512049	ENST00000513340	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000394358	ENST00000538184	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000394358	ENST00000502274	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000394358	ENST00000515425	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000394358	ENST00000512049	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000394358	ENST00000394358	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000394358	ENST00000513340	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000513340	ENST00000538184	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000513340	ENST00000502274	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000513340	ENST00000515425	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000513340	ENST00000512049	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000513340	ENST00000394358	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000513340	ENST00000513340	SH3TC2	chr5	148250111	+	SH3TC2	chr5	148248823	+
intron-intron	ENST00000538184	ENST00000538184	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000538184	ENST00000502274	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000538184	ENST00000515425	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000538184	ENST00000512049	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000538184	ENST00000394358	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000538184	ENST00000513340	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000502274	ENST00000538184	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000502274	ENST00000502274	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000502274	ENST00000515425	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000502274	ENST00000512049	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000502274	ENST00000394358	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000502274	ENST00000513340	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000515425	ENST00000538184	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000515425	ENST00000502274	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000515425	ENST00000515425	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000515425	ENST00000512049	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000515425	ENST00000394358	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000515425	ENST00000513340	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000512049	ENST00000538184	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000512049	ENST00000502274	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000512049	ENST00000515425	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000512049	ENST00000512049	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000512049	ENST00000394358	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000512049	ENST00000513340	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000394358	ENST00000538184	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000394358	ENST00000502274	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000394358	ENST00000515425	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000394358	ENST00000512049	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000394358	ENST00000394358	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000394358	ENST00000513340	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000513340	ENST00000538184	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000513340	ENST00000502274	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000513340	ENST00000515425	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000513340	ENST00000512049	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000513340	ENST00000394358	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+
intron-intron	ENST00000513340	ENST00000513340	SH3TC2	chr5	148230794	+	SH3TC2	chr5	148214469	+

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FusionProtFeatures for SH3TC2_SH3TC2

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

Hgene	Tgene
SH3TC2 Q8TF17	SH3TC2 Q8TF17

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 SH3TC2_SH3TC2

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 SH3TC2_SH3TC2

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 SH3TC2_SH3TC2

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 SH3TC2_SH3TC2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	SH3TC2	C1866636	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C	1	CTD_human;ORPHANET;UNIPROT
Hgene	SH3TC2	C3150596	MONONEUROPATHY OF THE MEDIAN NERVE, MILD	1	CTD_human;UNIPROT
Tgene	SH3TC2	C1866636	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C	1	CTD_human;ORPHANET;UNIPROT
Tgene	SH3TC2	C3150596	MONONEUROPATHY OF THE MEDIAN NERVE, MILD	1	CTD_human;UNIPROT

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Fusion gene ID: 33699

FusionGeneSummary for SH3TC2_SH3TC2

FusionProtFeatures for SH3TC2_SH3TC2

FusionGeneSequence for SH3TC2_SH3TC2

FusionGenePPI for SH3TC2_SH3TC2

RelatedDrugs for SH3TC2_SH3TC2

RelatedDiseases for SH3TC2_SH3TC2