Home

Download

Statistics

Examples

Help

Contact

	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:C1orf213-PTCH2 (FusionGDB2 ID:11403)

Fusion Gene Summary for C1orf213-PTCH2

Fusion gene summary

Fusion gene information	Fusion gene name: C1orf213-PTCH2
	Fusion gene ID: 11403
		Hgene	Tgene
	Gene symbol	C1orf213	PTCH2
	Gene ID	148898	8643
	Gene name	ZNF436 antisense RNA 1	patched 2
	Synonyms	C1orf213	PTC2
	Cytomap	1p36.12	1p34.1
	Type of gene	ncRNA	protein-coding
	Description	-	protein patched homolog 2patched homolog 2
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000458053, ENST00000454117, ENST00000335648, ENST00000518821, ENST00000437367,	ENST00000447098, ENST00000372192,
Fusion gene scores	* DoF score	1 X 2 X 1=2	2 X 3 X 2=12
	# samples	1	2
	** MAII score	log2(1/2*10)=2.32192809488736	log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: C1orf213 [Title/Abstract] AND PTCH2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	C1orf213(23696012)-PTCH2(45292575), # samples:1 C1orf213(23696006)-PTCH2(45292440), # samples:1
Anticipated loss of major functional domain due to fusion event.	C1orf213-PTCH2 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. C1orf213-PTCH2 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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

Fusion gene breakpoints across C1orf213 (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 PTCH2 (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	SKCM	TCGA-EB-A82C-01A	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
ChimerDB4	SKCM	TCGA-EB-A82C-01A	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-

Top

Fusion Gene ORF analysis for C1orf213-PTCH2

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	ENST00000458053	ENST00000447098	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
intron-intron	ENST00000458053	ENST00000372192	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
5CDS-intron	ENST00000454117	ENST00000447098	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
5CDS-intron	ENST00000454117	ENST00000372192	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
5CDS-intron	ENST00000335648	ENST00000447098	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
5CDS-intron	ENST00000335648	ENST00000372192	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
intron-intron	ENST00000518821	ENST00000447098	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
intron-intron	ENST00000518821	ENST00000372192	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
5CDS-intron	ENST00000437367	ENST00000447098	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
5CDS-intron	ENST00000437367	ENST00000372192	C1orf213	chr1	23696012	+	PTCH2	chr1	45292575	-
intron-3CDS	ENST00000458053	ENST00000447098	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-
intron-3CDS	ENST00000458053	ENST00000372192	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-
Frame-shift	ENST00000454117	ENST00000447098	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-
Frame-shift	ENST00000454117	ENST00000372192	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-
In-frame	ENST00000335648	ENST00000447098	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-
In-frame	ENST00000335648	ENST00000372192	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-
intron-3CDS	ENST00000518821	ENST00000447098	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-
intron-3CDS	ENST00000518821	ENST00000372192	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-
Frame-shift	ENST00000437367	ENST00000447098	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-
Frame-shift	ENST00000437367	ENST00000372192	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-

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)
ENST00000335648	C1orf213	chr1	23696006	-	ENST00000447098	PTCH2	chr1	45292440	-	3860	2269	3074	2256	272
ENST00000335648	C1orf213	chr1	23696006	-	ENST00000372192	PTCH2	chr1	45292440	-	3668	2269	3314	2256	352

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
ENST00000335648	ENST00000447098	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-	0.062650226	0.93734974
ENST00000335648	ENST00000372192	C1orf213	chr1	23696006	-	PTCH2	chr1	45292440	-	0.28346804	0.71653193

Top

Fusion Genomic Features for C1orf213-PTCH2

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)
C1orf213	chr1	23696006	+	PTCH2	chr1	45292573	-	0.6865592	0.31344083
C1orf213	chr1	23696006	+	PTCH2	chr1	45292573	-	0.6865592	0.31344083

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.

Top

Fusion Protein Features for C1orf213-PTCH2

Go to
FGviewer for the breakpoints of chr1:23696006-chr1:45292440
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

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

Hgene	Tgene
.	.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

1013_1013

898.3333333333334

1204.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

1035_1064

898.3333333333334

1204.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

1086_1093

898.3333333333334

1204.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

1115_1203

898.3333333333334

1204.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

985_991

898.3333333333334

1204.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

1013_1013

898.3333333333334

1147.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

1035_1064

898.3333333333334

1147.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

1086_1093

898.3333333333334

1147.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

1115_1203

898.3333333333334

1147.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

985_991

898.3333333333334

1147.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

1014_1034

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

1065_1085

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

1094_1114

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

964_984

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

992_1012

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

1014_1034

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

1065_1085

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

1094_1114

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

964_984

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

992_1012

898.3333333333334

1147.0

Transmembrane

Helical

- 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

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

394_552

898.3333333333334

1204.0

Domain

SSD

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

394_552

898.3333333333334

1147.0

Domain

SSD

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

1_57

898.3333333333334

1204.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

414_428

898.3333333333334

1204.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

450_457

898.3333333333334

1204.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

479_501

898.3333333333334

1204.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

523_531

898.3333333333334

1204.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

553_686

898.3333333333334

1204.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

708_963

898.3333333333334

1204.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

79_392

898.3333333333334

1204.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

1_57

898.3333333333334

1147.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

414_428

898.3333333333334

1147.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

450_457

898.3333333333334

1147.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

479_501

898.3333333333334

1147.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

523_531

898.3333333333334

1147.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

553_686

898.3333333333334

1147.0

Topological domain

Cytoplasmic

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

708_963

898.3333333333334

1147.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

79_392

898.3333333333334

1147.0

Topological domain

Extracellular

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

393_413

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

429_449

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

458_478

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

502_522

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

532_552

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

58_78

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000372192

687_707

898.3333333333334

1204.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

393_413

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

429_449

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

458_478

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

502_522

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

532_552

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

58_78

898.3333333333334

1147.0

Transmembrane

Helical

Tgene

PTCH2

chr1:23696006

chr1:45292440

ENST00000447098

687_707

898.3333333333334

1147.0

Transmembrane

Helical

Top

Fusion Gene Sequence for C1orf213-PTCH2

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.

>In-frame_ENST00000335648_ENST00000447098_TCGA-EB-A82C-01A_C1orf213_chr1_23696006_-_PTCH2_chr1_45292440_length(transcript)=3860nt_BP=2269nt
GTAGATCTCGAATTCGTAGACTTGCAGGCGAAGCCCAGATATCGTAGGCTGATCCTAAAGACTCAGATTCCCGAGGCCTCAGACTCGCAG
GCAGCTCAGAAACCACAGGCTCATAGGCAGATCCCTGAGACCACAGAGGCTGGCCGAGAAACCACCAGCAACTAAGCTGCATTCAGCTGG
AGTTCCTCGGAACGGGAGGACTCGCAGCTCTCCCTTTCCCCAGCCAGGATGAGGGAATTAGACAATGGAAGTCGAGCACTGGGGAAAGCA
GGCATTCTGCGTGGGGAAGAGCTCCCAGCTCGCTGTAGCCTTGGAGAGGGAAGTGATGGAAAAAGAATATAGCAGCTTATTAGGGACTCC
CACCCTCTTCAAGTTATAAATATCCCCAGAACCTTGGCTACGTGCCCGGAAGCCTGTTGTCTCTAACTGTACAGGAGACTTCTCTGCCTG
GGCTGGGAAAGGGGCCTTTCTTTTGTTTTGCAGATAGATCCACCCACTGAGGAACTTGAAAATTTTTTTCAAACATAACTCCAGGCCTTG
CTTTTATTAGTGAGTGTCCTGTTCCCAGTGCCCGGTTATTTATGATTAAATTACTGAAGTGTCTAAAAAGAACAGAAGGACCCACCCCAG
CCATAATGCAGACTTTCCCATTCCTTCTCTTTCCACCCGCAACTGTGGGGCTAAGAATTCTTAAGATGTCACAGAATTATACCATCCTAC
CTCATCTAAAGTCGATCCGAGGCTGGTCCGATGGTAGTGGGTTACCAGAACTTAATAACATTAATAACTCTAAAGTTAGTATACAACCCC
CCACTGCTAAATTTGGCTATAAAAATAAAATTGATCTGAGCACCATATAAAATGGAATCCTGGAGGGTCCCCTAGAGGCAGTATCCCCAG
TGGAAAGAGCGTGGGCCTCAAGGTCAGACAAGCCTGGTTTGGAATCCAGGCTGTGTATCCTTTGGAAAGTCATTGAATCCAGGCCCATTT
CCTTTTCTCTAAAATGAGGGTCATCATACCTAAGGATGTTGTGAGGCGTGAGTGAGATGATTAAAGCGTTCCAGAGAGTGCGCTCTTGGA
TGATAGCCGTTACTTTTTATTAACCCTGGCTTTGGTGGTAAGGGAAACTTCCAGAAATGCTTGTGGGTATATTGGATAGCTCAGAAAATC
TGGGAAATCAAAGTGGCTCAATAGCTGTGAGGAACTGTGGGTGACTTTATCCTCACATCGTGTTTCTTCCAGAAATTCAGACGCAACAGA
GGTTAGGCCAGTTTGGTGGGTTCCAGTGAGCGGTGTGTTGAGCCTAGTAGAGCATAGGTACTTGGGGTTGCCAAAACCCCAGCAAGTTGA
GGCTTCACGCTCAGGGAAACTTCTGGGTCAGAGGTTAATAACCACGCTCCTTGGAGCAAGGAGGAGGGGAGCCTTTCTGACTAGCTGAAG
TAATTGCAGGTTTCTAACTGGGCCTAAGGTGAGCTGAGGGCTTGAGCCCCTCAGCCCAGCGGGGGTCCCTTTTCATCCCTTCTCTGACAG
ATTGCTTTGTAAACTTTCTTAGGCCTTCCCCCCACCCCTTTGCCCCAGTGCTTTAAGCCCTTCTTTGTCTTCTTGCTGTTTCTTTTATTC
CTCAGGCCTGCGGGGCGGGGGCGGGGTGGCGCCCAGGACGACTCCCCGGGCTCAGCTTGGCTGCCTGCCTCCTTCTGTAAGTGCTTTTTT
TTTCTTCACCTGGGACCCTCTAGAGGTTGGAAAGAGAAGAGAGGCTGGGAGCGGATGGAAAGCATGACTGCATCTGGAGCCCCTGGGGGG
AGTGGGGAAGAGGGAGTGGAAGGACAGTGGCTGAGGGGCTTCCTGTTGCAGCCTTCAGCTGGACTCAGGGTTGGGGTCACTGGAGGAGGA
GGTGGCTTCCTGCCCCATTGTTCTGGACTGCAGTGTTTCTTGGGAATACTTACTGTATGTGGATTTTCAGTAACCAACTTGGAAAGCTGT
ATTTGTTCCCATGATTCAGCAAACAATGAGTACCTACTGTGTGTAGAAGCAGCAGGACAGCCTGTCATCACTGGGAAAGAGGCCAGAAGA
GCCGTTTGGCCAGGGTCTCCAATTTAGGCTTTCAACATTATCTCTAAAGAAGGTTATACATTATGTCGGCTCCACTGGCTGATGGGATCA
AAGACCCTCCTTGTATATCCTTAAACCTGTACTCTATTACCAGGCCACTGTGCCTGTGGAGCACTGTAAGTTCCTACCTTTTAATAAATT
TTATAATTATCTTGTGAGCTCCCGCCAGCTCAGCCCTTGGAGTTTGCCCAGTTCCCCTTCCTGCTGCGTGGCCTCCAGAAGACTGCAGAC
TTTGTGGAGGCCATCGAGGGGGCCCGGGCAGCATGCGCAGAGGCCGGCCAGGCTGGGGTGCACGCCTACCCCAGCGGCTCCCCCTTCCTC
TTCTGGGAACAGTATCTGGGCCTGCGGCGCTGCTTCCTGCTGGCCGTCTGCATCCTGCTGGTGTGCACTTTCCTCGTCTGTGCTCTGCTG
CTCCTCAACCCCTGGACGGCTGGCCTCATAGTGCTGGTCCTGGCGATGATGACAGTGGAACTCTTTGGTATCATGGGTTTCCTGGGCATC
AAGCTGAGTGCCATCCCCGTGGTGATCCTTGTGGCCTCTGTAGGCATTGGCGTTGAGTTCACAGTCCACGTGGCTCTGGGCTTCCTGACC
ACCCAGGGCAGCCGGAACCTGCGGGCCGCCCATGCCCTTGAGCACACATTTGCCCCCGTGACCGATGGGGCCATCTCCACATTGCTGGGT
CTGCTCATGCTTGCTGGTTCCCACTTTGACTTCATTGTAAGGTACTTCTTTGCGGCGCTGACAGTGCTCACGCTCCTGGGCCTCCTCCAT
GGACTCGTGCTGCTGCCTGTGCTGCTGTCCATCCTGGGCCCGCCGCCAGAGGTGATACAGATGTACAAGGAAAGCCCAGAGATCCTGAGT
CCACCAGCTCCACAGGGAGGCGGGCTTAGGCCCGAGGAGATCTAGCCTCTGCCTCCCACCCCAGCACCCCCTCATCAGACACACGGAGCG
CCACTGTCTGGACAGGCTGAATTGGTCTTCGGGTCCCTAATTTCTCATACGCCATTCCCTCTGCCTAGAACACTTTCTCACCTCCCCTTG
ATGTGACCCCATATCACCCTTCGAGGTGAATTGGATCGGATGCCATCTCCTCCAGGAGGGGTGGGGTCGTGCCTCCTGTGAGGTCCCAGT
GCCCCTGAGTGTCTGTGCCCGTCTGTTTCCCCGTCCCTCTCTCTAAGCCCGGAGGCTTACTGCGGGTAAGGACGGCGGGACAGGACCTTA
ACCCCTGGGACGAACACCAGCTCCGCAAAGGACTCCGCACCCGGCGCCGCCCACGGGGTGCGGGTCCCAGGAGGACCAGCAGAGAGGAGC
ATAGGAGAGCAAAGGAGATCAGTGACCCATGGCTTCCCCGGTGGCGCGGAACAGCCCGGAGCCGCCTGTGATTTGCATACCCATGGTGCA
CCACGAAAAGATACCCTCAAGATGCTTGCACTCCCTCTGTGCGCGCATTTCTGCACTGTTTTAGAGCATGATGCCTCTTACACGCATCTG
TGTGCATAAACTACATATAGGGAGTGCGTACCACGCAGGCATCCAACAACCATAAGTGTGTTAAGTGTTAGTTCTCCCTGCGAGGTTCGA
AGCGGAAGTCACGAATATACTCGGGTTTCTCTTCAAAGCGCATAAATCTTTCGCCTTTTACTAAAGATTTCCGTGGAGAGAAAGTTGTGA

>In-frame_ENST00000335648_ENST00000447098_TCGA-EB-A82C-01A_C1orf213_chr1_23696006_-_PTCH2_chr1_45292440_length(amino acids)=272AA_start in transcript=3074_stop in transcript=2256
MSRQWRSVCLMRGCWGGRQRLDLLGPKPASLWSWWTQDLWAFLVHLYHLWRRAQDGQQHRQQHESMEEAQEREHCQRRKEVPYNEVKVGT
SKHEQTQQCGDGPIGHGGKCVLKGMGGPQVPAALGGQEAQSHVDCELNANAYRGHKDHHGDGTQLDAQETHDTKEFHCHHRQDQHYEASR
PGVEEQQSTDEESAHQQDADGQQEAAPQAQILFPEEEGGAAGVGVHPSLAGLCACCPGPLDGLHKVCSLLEATQQEGELGKLQGLSWREL

--------------------------------------------------------------
>In-frame_ENST00000335648_ENST00000372192_TCGA-EB-A82C-01A_C1orf213_chr1_23696006_-_PTCH2_chr1_45292440_length(transcript)=3668nt_BP=2269nt
GTAGATCTCGAATTCGTAGACTTGCAGGCGAAGCCCAGATATCGTAGGCTGATCCTAAAGACTCAGATTCCCGAGGCCTCAGACTCGCAG
GCAGCTCAGAAACCACAGGCTCATAGGCAGATCCCTGAGACCACAGAGGCTGGCCGAGAAACCACCAGCAACTAAGCTGCATTCAGCTGG
AGTTCCTCGGAACGGGAGGACTCGCAGCTCTCCCTTTCCCCAGCCAGGATGAGGGAATTAGACAATGGAAGTCGAGCACTGGGGAAAGCA
GGCATTCTGCGTGGGGAAGAGCTCCCAGCTCGCTGTAGCCTTGGAGAGGGAAGTGATGGAAAAAGAATATAGCAGCTTATTAGGGACTCC
CACCCTCTTCAAGTTATAAATATCCCCAGAACCTTGGCTACGTGCCCGGAAGCCTGTTGTCTCTAACTGTACAGGAGACTTCTCTGCCTG
GGCTGGGAAAGGGGCCTTTCTTTTGTTTTGCAGATAGATCCACCCACTGAGGAACTTGAAAATTTTTTTCAAACATAACTCCAGGCCTTG
CTTTTATTAGTGAGTGTCCTGTTCCCAGTGCCCGGTTATTTATGATTAAATTACTGAAGTGTCTAAAAAGAACAGAAGGACCCACCCCAG
CCATAATGCAGACTTTCCCATTCCTTCTCTTTCCACCCGCAACTGTGGGGCTAAGAATTCTTAAGATGTCACAGAATTATACCATCCTAC
CTCATCTAAAGTCGATCCGAGGCTGGTCCGATGGTAGTGGGTTACCAGAACTTAATAACATTAATAACTCTAAAGTTAGTATACAACCCC
CCACTGCTAAATTTGGCTATAAAAATAAAATTGATCTGAGCACCATATAAAATGGAATCCTGGAGGGTCCCCTAGAGGCAGTATCCCCAG
TGGAAAGAGCGTGGGCCTCAAGGTCAGACAAGCCTGGTTTGGAATCCAGGCTGTGTATCCTTTGGAAAGTCATTGAATCCAGGCCCATTT
CCTTTTCTCTAAAATGAGGGTCATCATACCTAAGGATGTTGTGAGGCGTGAGTGAGATGATTAAAGCGTTCCAGAGAGTGCGCTCTTGGA
TGATAGCCGTTACTTTTTATTAACCCTGGCTTTGGTGGTAAGGGAAACTTCCAGAAATGCTTGTGGGTATATTGGATAGCTCAGAAAATC
TGGGAAATCAAAGTGGCTCAATAGCTGTGAGGAACTGTGGGTGACTTTATCCTCACATCGTGTTTCTTCCAGAAATTCAGACGCAACAGA
GGTTAGGCCAGTTTGGTGGGTTCCAGTGAGCGGTGTGTTGAGCCTAGTAGAGCATAGGTACTTGGGGTTGCCAAAACCCCAGCAAGTTGA
GGCTTCACGCTCAGGGAAACTTCTGGGTCAGAGGTTAATAACCACGCTCCTTGGAGCAAGGAGGAGGGGAGCCTTTCTGACTAGCTGAAG
TAATTGCAGGTTTCTAACTGGGCCTAAGGTGAGCTGAGGGCTTGAGCCCCTCAGCCCAGCGGGGGTCCCTTTTCATCCCTTCTCTGACAG
ATTGCTTTGTAAACTTTCTTAGGCCTTCCCCCCACCCCTTTGCCCCAGTGCTTTAAGCCCTTCTTTGTCTTCTTGCTGTTTCTTTTATTC
CTCAGGCCTGCGGGGCGGGGGCGGGGTGGCGCCCAGGACGACTCCCCGGGCTCAGCTTGGCTGCCTGCCTCCTTCTGTAAGTGCTTTTTT
TTTCTTCACCTGGGACCCTCTAGAGGTTGGAAAGAGAAGAGAGGCTGGGAGCGGATGGAAAGCATGACTGCATCTGGAGCCCCTGGGGGG
AGTGGGGAAGAGGGAGTGGAAGGACAGTGGCTGAGGGGCTTCCTGTTGCAGCCTTCAGCTGGACTCAGGGTTGGGGTCACTGGAGGAGGA
GGTGGCTTCCTGCCCCATTGTTCTGGACTGCAGTGTTTCTTGGGAATACTTACTGTATGTGGATTTTCAGTAACCAACTTGGAAAGCTGT
ATTTGTTCCCATGATTCAGCAAACAATGAGTACCTACTGTGTGTAGAAGCAGCAGGACAGCCTGTCATCACTGGGAAAGAGGCCAGAAGA
GCCGTTTGGCCAGGGTCTCCAATTTAGGCTTTCAACATTATCTCTAAAGAAGGTTATACATTATGTCGGCTCCACTGGCTGATGGGATCA
AAGACCCTCCTTGTATATCCTTAAACCTGTACTCTATTACCAGGCCACTGTGCCTGTGGAGCACTGTAAGTTCCTACCTTTTAATAAATT
TTATAATTATCTTGTGAGCTCCCGCCAGCTCAGCCCTTGGAGTTTGCCCAGTTCCCCTTCCTGCTGCGTGGCCTCCAGAAGACTGCAGAC
TTTGTGGAGGCCATCGAGGGGGCCCGGGCAGCATGCGCAGAGGCCGGCCAGGCTGGGGTGCACGCCTACCCCAGCGGCTCCCCCTTCCTC
TTCTGGGAACAGTATCTGGGCCTGCGGCGCTGCTTCCTGCTGGCCGTCTGCATCCTGCTGGTGTGCACTTTCCTCGTCTGTGCTCTGCTG
CTCCTCAACCCCTGGACGGCTGGCCTCATAGTGCTGGTCCTGGCGATGATGACAGTGGAACTCTTTGGTATCATGGGTTTCCTGGGCATC
AAGCTGAGTGCCATCCCCGTGGTGATCCTTGTGGCCTCTGTAGGCATTGGCGTTGAGTTCACAGTCCACGTGGCTCTGGGCTTCCTGACC
ACCCAGGGCAGCCGGAACCTGCGGGCCGCCCATGCCCTTGAGCACACATTTGCCCCCGTGACCGATGGGGCCATCTCCACATTGCTGGGT
CTGCTCATGCTTGCTGGTTCCCACTTTGACTTCATTGTAAGGTACTTCTTTGCGGCGCTGACAGTGCTCACGCTCCTGGGCCTCCTCCAT
GGACTCGTGCTGCTGCCTGTGCTGCTGTCCATCCTGGGCCCGCCGCCAGAGGTGATACAGATGTACAAGGAAAGCCCAGAGATCCTGAGT
CCACCAGCTCCACAGGGAGGCGGGCTTAGGTGGGGGGCATCCTCCTCCCTGCCCCAGAGCTTTGCCAGAGTGACTACCTCCATGACCGTG
GCCATCCACCCACCCCCCCTGCCTGGTGCCTACATCCATCCAGCCCCTGATGAGCCCCCTTGGTCCCCTGCTGCCACTAGCTCTGGCAAC
CTCAGTTCCAGGGGACCAGGTCCAGCCACTGGGTGAAAGAGCAGCTGAAGCACAGAGACCATGTGTGGGGCGTGTGGGGTCACTGGGAAG
CACTGGGTCTGGTGTTAGACGCAGGATGGACCCCTGGAGGGCCCTGCTGCTGCTGCATCCCCTCTCCCGACCCAGCTGTCATGGGCCTCC
CTGATATCCATACAGAACAGCCACCGATTTGCACATCCAGGCCTGTGTGAGCCTGTATCTGTGTCACTTGAGAGTGAAAGCTGGCACTTG
GGGCTGCAGTGCAGCCCTGTCCCCCTTCCCACCCCACACCACTGCCTGCCCAGCTGACCAAGCCTGAGGGACCCTCCAGCACCCTTCCGT
CTGGTGACTCCTGGGCAGGCTCTCCATATCCCTGCCCACCTCCTACCACATCCATTATTTATATGAAAATGTCTATTTTTGTAGTATACA

>In-frame_ENST00000335648_ENST00000372192_TCGA-EB-A82C-01A_C1orf213_chr1_23696006_-_PTCH2_chr1_45292440_length(amino acids)=352AA_start in transcript=3314_stop in transcript=2256
MGRERGCSSSRALQGSILRLTPDPVLPSDPTRPTHGLCASAALSPSGWTWSPGTEVARASGSRGPRGLIRGWMDVGTRQGGWVDGHGHGG
SHSGKALGQGGGCPPPKPASLWSWWTQDLWAFLVHLYHLWRRAQDGQQHRQQHESMEEAQEREHCQRRKEVPYNEVKVGTSKHEQTQQCG
DGPIGHGGKCVLKGMGGPQVPAALGGQEAQSHVDCELNANAYRGHKDHHGDGTQLDAQETHDTKEFHCHHRQDQHYEASRPGVEEQQSTD

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

Top

Fusion Gene PPI Analysis for C1orf213-PTCH2

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

Top

Related Drugs for C1orf213-PTCH2

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

Top

Related Diseases for C1orf213-PTCH2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	PTCH2	C0004779	Basal Cell Nevus Syndrome	6	CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	PTCH2	C0812437	Oculo-dento-digital syndrome	2	ORPHANET
Tgene	PTCH2	C0024433	Macrostomia	1	ORPHANET
Tgene	PTCH2	C0238198	Gastrointestinal Stromal Tumors	1	CTD_human
Tgene	PTCH2	C3179349	Gastrointestinal Stromal Sarcoma	1	CTD_human