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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:TMEM67-UBE2K (FusionGDB2 ID:91595)

Fusion Gene Summary for TMEM67-UBE2K

Fusion gene summary

Fusion gene information	Fusion gene name: TMEM67-UBE2K
	Fusion gene ID: 91595
		Hgene	Tgene
	Gene symbol	TMEM67	UBE2K
	Gene ID	91147	3093
	Gene name	transmembrane protein 67	ubiquitin conjugating enzyme E2 K
	Synonyms	JBTS6\|MECKELIN\|MKS3\|NPHP11\|TNEM67	E2-25K\|HIP2\|HYPG\|LIG\|UBC1
	Cytomap	8q22.1	4p14
	Type of gene	protein-coding	protein-coding
	Description	meckelinmeckel syndrome type 3 protein	ubiquitin-conjugating enzyme E2 KE2 ubiquitin-conjugating enzyme KE2(25K)HIP-2huntingtin-interacting protein 2ubiquitin carrier proteinubiquitin conjugating enzyme E2Kubiquitin-conjugating enzyme E2(25K)ubiquitin-conjugating enzyme E2-25 KDAubiqu
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000453321, ENST00000409623, ENST00000425545,	ENST00000261427, ENST00000295963, ENST00000438068, ENST00000503368, ENST00000445950,
Fusion gene scores	* DoF score	3 X 3 X 3=27	17 X 12 X 8=1632
	# samples	3	18
	** MAII score	log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(18/1632*10)=-3.18057224564182 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: TMEM67 [Title/Abstract] AND UBE2K [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	TMEM67(94770804)-UBE2K(39779979), # samples:1
Anticipated loss of major functional domain due to fusion event.	TMEM67-UBE2K seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. TMEM67-UBE2K 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
Tgene	UBE2K	GO:0010800	positive regulation of peptidyl-threonine phosphorylation	24882218
Tgene	UBE2K	GO:0010994	free ubiquitin chain polymerization	24882218
Tgene	UBE2K	GO:0070936	protein K48-linked ubiquitination	20061386

Fusion gene breakpoints across TMEM67 (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 UBE2K (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	OV	TCGA-24-1545	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+

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Fusion Gene ORF analysis for TMEM67-UBE2K

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
In-frame	ENST00000453321	ENST00000261427	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
In-frame	ENST00000453321	ENST00000295963	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
5CDS-3UTR	ENST00000453321	ENST00000438068	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
5CDS-3UTR	ENST00000453321	ENST00000503368	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
5CDS-3UTR	ENST00000453321	ENST00000445950	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
Frame-shift	ENST00000409623	ENST00000261427	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
Frame-shift	ENST00000409623	ENST00000295963	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
5CDS-3UTR	ENST00000409623	ENST00000438068	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
5CDS-3UTR	ENST00000409623	ENST00000503368	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
5CDS-3UTR	ENST00000409623	ENST00000445950	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
intron-3CDS	ENST00000425545	ENST00000261427	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
intron-3CDS	ENST00000425545	ENST00000295963	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
intron-3UTR	ENST00000425545	ENST00000438068	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
intron-3UTR	ENST00000425545	ENST00000503368	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+
intron-3UTR	ENST00000425545	ENST00000445950	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+

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)

ENST00000453321

TMEM67

chr8

94770804

ENST00000261427

UBE2K

chr4

39779979

4897

464

534

158

ENST00000453321

TMEM67

chr8

94770804

ENST00000295963

UBE2K

chr4

39779979

1123

464

534

158

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
ENST00000453321	ENST00000261427	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+	0.009972195	0.99002784
ENST00000453321	ENST00000295963	TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+	0.010406261	0.98959374

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Fusion Genomic Features for TMEM67-UBE2K

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)
TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+	9.79E-06	0.9999902
TMEM67	chr8	94770804	+	UBE2K	chr4	39779979	+	9.79E-06	0.9999902

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 TMEM67-UBE2K

Go to
FGviewer for the breakpoints of chr8:94770804-chr4:39779979
.
- 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

UBE2K

chr8:94770804

chr4:39779979

ENST00000445950

160_200

133.0

158.0

Domain

UBA

Tgene

UBE2K

chr8:94770804

chr4:39779979

ENST00000503368

160_200

125.0

150.0

Domain

UBA

- 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

TMEM67

chr8:94770804

chr4:39779979

ENST00000409623

526_546

9.666666666666666

915.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000409623

570_590

9.666666666666666

915.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000409623

609_629

9.666666666666666

915.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000409623

689_709

9.666666666666666

915.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000409623

734_754

9.666666666666666

915.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000409623

939_959

9.666666666666666

915.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000453321

526_546

135.33333333333334

996.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000453321

570_590

135.33333333333334

996.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000453321

609_629

135.33333333333334

996.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000453321

689_709

135.33333333333334

996.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000453321

734_754

135.33333333333334

996.0

Transmembrane

Helical

Hgene

TMEM67

chr8:94770804

chr4:39779979

ENST00000453321

939_959

135.33333333333334

996.0

Transmembrane

Helical

Tgene

UBE2K

chr8:94770804

chr4:39779979

ENST00000261427

160_200

176.0

201.0

Domain

UBA

Tgene

UBE2K

chr8:94770804

chr4:39779979

ENST00000261427

4_154

176.0

201.0

Domain

UBC core

Tgene

UBE2K

chr8:94770804

chr4:39779979

ENST00000445950

4_154

133.0

158.0

Domain

UBC core

Tgene

UBE2K

chr8:94770804

chr4:39779979

ENST00000503368

4_154

125.0

150.0

Domain

UBC core

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Fusion Gene Sequence for TMEM67-UBE2K

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_ENST00000453321_ENST00000261427_TCGA-24-1545_TMEM67_chr8_94770804_+_UBE2K_chr4_39779979_length(transcript)=4897nt_BP=464nt
AAGCCGCCGCAGAGGCTGATGGGGGGCTGGAGGCTGTGAGGCTTCCAGCGTCGGTACCATGGCGACGCGCGGTGGGGCTGGGGTGGCAAT
GGCGGTTTGGTCCCTCTTATCCGCCCGGGCCGTGACCGCGTTCCTTCTGTTGTTCCTCCCTCGCTTCTTACAGGCCCAGACCTTCTCTTT
CCCTTTCCAGCAGCCGGAGAAGTGCGACAACAACCAGTACTTTGATATCTCCGCCCTCTCGTGTGTTCCTTGTGGAGCTAACCAGAGGCA
AGATGCCCGAGGAACTTCATGTGTATGTCTACCAGGATTTCAGATGATCTCTAATAATGGAGGACCTGCTATTATTTGTAAAAAGTGCCC
AGAAAACATGAAAGGTGTTACAGAAGATGGCTGGAACTGCATTTCTTGCCCTAGTGACTTAACTGCCGAAGGAAAATGTCACTGTCCCAT
TGGCCATATTTTAGAATGCAGTAATAGTGGCCTTGTCTTCAAAATCATGGGATGTAGAGACTGCAACAGAATTGCTTCTGAGTAACTGAG
GCATAGAGAGCTGCTGATATAGTCAAGCTTGCCTCTTCTTGAGGAGCACCAACATCTGTTATTTTTAGGATTCTGCATAGATTTCTTTTA
AACTGGCATTCTTGCCTAATGATGTTATCTAGGCACCATTGGAGACTGAAAAAAAAAAATCCCTGCTCTGTAAATAAAGCTAATTAAACG
TCTGTGTAAATTTAAAAAGGGGAAATACTTTAATTTTTTTTCTTAATAGTGTAAAAATTCCCTGAGCTAAGCTAAAACCATGGAAGAAAC
ATGCTACTTTAGTGTTTAGCAGTGTACCAAGACTAGCAAGAGTTTGCTTCAGGATTTTGTTGAATAATTAAGATAATATTTTGAGTGTGT
CAGGGCCATTCAAATTGTTGGTGTTGCATCACAGCTACCTTAACTGTTTTTAACATGGATCCTCTGTGCCTGTGAATTTACTTGCATGCT
TGTACTTGACTTCTTAGGATGGGTAGCTGAAAAGACCACCATTTTAAGCATTTGAGAATTCTTAAATATGAAATTTATTCAGAATTGAAG
ATGGTGACCTATTCAGAGCCTTTTTGTCCTTGTCAACAGACTGGGACAGTGTCTGATTCCCCCTTCACCCCCCCCACCCCCGCCTTGCCA
CACACAGCTAATATTCTAATGGTAAATTTCTCTGTATCAGGTGGGGAAATGTGCTGAAGGACAGTATGTATCCCTTGCTTCATTTTTAGG
TCGTAGGTTTGGAATGTCTTGTCCCAGTTCTTCAAACACTCTTAAATTTTTCTTAAGTAATGTAAAAATGGAACTGCCAATTTTATTTCT
CTTGCAAAAATAGTAAATACTTGATGTTACATTATTCCCAGGTTTAATGAAAGAACCCAACTTAGTTTTTCAGTGAATTTGACACCTATT
TTTTAGTGATGAAATTTTTCTTTGAGAACTGGCAAGGATGCAGTCAGCTGTTTGCAGTTTTTAGCCTGATTTTGGGGTCTATAGAGATTG
CTTTATTGGATACTTCAAGTCATTCTTGCTTGCACTTCCCCTATTGACACATGAAAGCTGTGTTGGTGTTTTATTGTACATACTTCAGAT
GCACATAGGAATAGAAGTGTGTTATAAATCTAGCTTTCTTTATGATGTTTCTGATAATACGAGAATTGAAAACTTTACCTTCTCTTGTAC
ATAGTCAGACTATTTGTATTAAATTTACATTTCATTCTAAGTTCAAAAGTTTGAAAATTATTAGTTTTGCAAGATCACACACTAATGTAA
CCATTTTATGAAGGTTGAAGTGGATTTATGCAGGCAGTTCTATATATAGAAATACAATTCTTTTTAAATTTTTAGGACCAATACAAAATA
ACAAAAATGTAATGGAATCAGACTGAATTAAAGTAAGGCTGTATATTGAAAGTCATATTATAAAAGGTTTGCTTTCTTTAAGTGTTATTT
ATCTTAAATTATAATCGTTAAATGTTTGGAAGATAATTTTTGAATCATAACGTCAGCATAACTTCATTTGACTTCTCAATAATCTTGATA
CTAGAAGCAATAAAAGAACCATTATTAAATATATTGTAATGTTAAAGATGTGAAGGTTCTTCCAAAAATTTGTAAGGCTTTCCTAATTAA
CAGTAAACTCTTATAGCTGATATTATTACATACTAAACACAAGTTGCTGTTTTTTCCCCATATGTTTGCTTACGCATGTCTTTATACAAT
CACCTCTTTTTATTGCTGTAGTTTATTTTCTAAAGATGCCAAAGGAAACAAGATTTTTCTTTATTTATTTTAAATACCTGAAACCTCGTA
CTTTATATTTTGAAGTAAGGTGGGATTGTGTGAAAATGTGGATGGTTTTTCTCCAGTGTTGGTTAGAACTACTTTTTTTAAGTGGAGGGC
AACTTGGTAGTATTAGTAGAATTTGGGTTTAAAAATATCAGACACATCTACCCAGTTTATTTTTTGCCTGTATTATCAGGGTATATTTAA
TTGTCCTGTGGTTAAACAAAGGTGAGAGAGCTCAGAGGTTTCTAAAGGTCAAGCATTTTACATATATACATACATACATGCTCTTGGAGG
CAGCTATATCCTGCTTTGATTTTTATGCACATGAGCCCTATAGGGTTATATACTCATCTAACTACACTTCAGCATCCCCAGTGCCCAAGA
AATTGGAAAGTACAATATTTGGTTTGAGACATTCTTCATAAAAGATTCTTTATTATAAAAATTTACCTCATTTACATTTAATGTGATGAT
CTTTTTTTTCCTTTCTGGTATATTTCCCACTGTACTGTTTGGTTTTTGTTATTCTCTTGTCTGTGGGTAGATTTAGTTACCCAAACATAG
AAACTAAAGCAATTGCTTTTTTCCTCTGGTCTTAAATATGTTTGGACAAAAAGACACTAAAAGGTCAGGCCTAGGGGAAAAGTACCCTGG
TGGAAATTATTTTTGTAATTCTTAATATTTTTGAGTTGGCTCCGTTTGTCAGTTTTAAAAGCCTCAAAAATTATGTTAAAAAAAAAATCC
AGTGAAATCCCATTTAGGGCAGGCCGATTTGTTAGAAGTCACTGATGCTCCAGTAGGCTTTTGTTATAATCAGGCCTGTTTCCTGAGTAT
GTGCCTCTTTTAAAAGAAGAAATAATTAGCTGTATAGTATTTCAGTACTGATGAATGAATGAATGAATGAATGGCAGTTAGTGGACCCAA
ATAAGTATTCAGTGGTATATAAATATTTGAGGAACTAGGTACTGAATTAGGTGCTCTGAGTTGGCACCCCGAAATGTTTGGAATCACGAC
TATGATTTACTTAAACACGTAACACATTCAAGGATATATAAATGGAGTCTAAGTATTTTGCTTTTGAAGAGAATAATCTATGAAATGGAA
GACTTGATTTTTTTTTTCATTTTTTAGAAGTAATACACATTTATGATTGTTGGCACATAAAACTATGCAAAATAATTCTTTTTAAGTATC
TGTAAGAAAGAATTGGCAGTTTAAACGGATTTTGCTTATTTATGCACTACAGAATGCAGCATACTGTATTACTGTTGAGGCTGCTTAATA
AGTTTACCAATGTGAAAAGCAGATCTTGGGTATAAGTGTATGCCTGATTTGAGCTTTTAAAACTGTGCAGTAGGTGTATGGTAATGTTTT
ACAATCCTATGTAGCAAAATAGGAAATTATGAATTTTTGTTGTTATTGTTTTAAAGATTTAAGATGGATTGGGGTAGGGAACAGCTGGAG
CCAGGTATACCTTCTAGTATGTAGAGGGAAACAATGTTTAGATAGGAAAAAGGAAGCCGTCTGTTTACAGTTAACTTTATTTCATGGACT
TCTACAAAATGTTGTATTAATCACTTTTTCTAGTTCAAGGAATTTCAATTCCAGGGTACAAACCATTGATTTAAAAATTACGTTTCCATT
CTTTTTAGTATCAGTTTAAAGTAAATGCTTACCATCAGCCAGTTGCTGTCACTGGGAAGAAGGCAACTTGAAGTATTTACTGATAAAATA
GCCTTTATTCCCAAGTGTGACTTTTCTTCAGTGTCTACATATTATGTCACACGTTCTATTTGCACTGCTGCAATATAGATCAAAGATCTT
GTGGCATAGGGGTAGGGGAGTGTTAGTATCTCCCTTGTCCCATTTGTTCTGTTACTGCTTCATTGGACTGATACACCCTCATGAACTTGC
AATCACCTAAATGGAAGTCTTGAATGTGTCACCTTTTGCTTGGTTATTTCAACCATGCTGCTATATATAATCAGGTGTGGCACAGTTTGT
CAGTTTGATTATAGGTGTGAGTGGATAGAAATCATTACACTGTGCTGTTAACGATCCTTGTCTGCTTGCTGTTACCTACTTTTTACAGGC
ATCATAATAAAAGCTAGACTATTTCTTTGGGGGGAAAGAGACTTATTTAATGTAATTTAAAAAACTTTTCCAATAGAAAATGAAATATTA
TTGAAAATAATATCTATTTTTTAGCTTTCAGCAATTGATGGTGCTTTGTTGTGGTGTCTGCTGGAAGTCTACTGCCATTATAGGGAACCT
TGCTTGTTAGCTTCTCTAGATCTCTATTCTAAACAATCTGTTAGTGATGATAAATTCTGTAGGAGGGTCTATTCTGAGCCGTTAACTTCC
TGTAAGGGGAAAATGGGTGGGTTACCAGAAATACCATTGAAGCAGGGTGGGCTGTGGGGTGGAAGGTTGGGGTATTTGTCTTGAGAATTA
AAAACTACGAAACACTTTTGTACACAACTGATTTTTTAAAAAATAAACACATTTTTAAAGATGTTGAATTTTTCCCCCCTTATTGGGAAT

>In-frame_ENST00000453321_ENST00000261427_TCGA-24-1545_TMEM67_chr8_94770804_+_UBE2K_chr4_39779979_length(amino acids)=158AA_start in transcript=58_stop in transcript=534
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQRQDARGTSCVCLPGFQMISNN

--------------------------------------------------------------
>In-frame_ENST00000453321_ENST00000295963_TCGA-24-1545_TMEM67_chr8_94770804_+_UBE2K_chr4_39779979_length(transcript)=1123nt_BP=464nt
AAGCCGCCGCAGAGGCTGATGGGGGGCTGGAGGCTGTGAGGCTTCCAGCGTCGGTACCATGGCGACGCGCGGTGGGGCTGGGGTGGCAAT
GGCGGTTTGGTCCCTCTTATCCGCCCGGGCCGTGACCGCGTTCCTTCTGTTGTTCCTCCCTCGCTTCTTACAGGCCCAGACCTTCTCTTT
CCCTTTCCAGCAGCCGGAGAAGTGCGACAACAACCAGTACTTTGATATCTCCGCCCTCTCGTGTGTTCCTTGTGGAGCTAACCAGAGGCA
AGATGCCCGAGGAACTTCATGTGTATGTCTACCAGGATTTCAGATGATCTCTAATAATGGAGGACCTGCTATTATTTGTAAAAAGTGCCC
AGAAAACATGAAAGGTGTTACAGAAGATGGCTGGAACTGCATTTCTTGCCCTAGTGACTTAACTGCCGAAGGAAAATGTCACTGTCCCAT
TGGCCATATTTTAGAATGCAGTAATAGTGGCCTTGTCTTCAAAATCATGGGATGTAGAGACTGCAACAGAATTGCTTCTGAGTAACTGAG
GCATAGAGAGCTGCTGATATAGTCAAGCTTGCCTCTTCTTGAGGAGCACCAACATCTGTTATTTTTAGGATTCTGCATAGATTTCTTTTA
AACTGGCATTCTTGCCTAATGATGTTATCTAGGCACCATTGGAGACTGAAAAAAAAAAATCCCTGCTCTGTAAATAAAGCTAATTAAACG
TCTGTGTAAATTTAAAAAGGGGAAATACTTTAATTTTTTTTCTTAATAGTGTAAAAATTCCCTGAGCTAAGCTAAAACCATGGAAGAAAC
ATGCTACTTTAGTGTTTAGCAGTGTACCAAGACTAGCAAGAGTTTGCTTCAGGATTTTGTTGAATAATTAAGATAATATTTTGAGTGTGT
CAGGGCCATTCAAATTGTTGGTGTTGCATCACAGCTACCTTAACTGTTTTTAACATGGATCCTCTGTGCCTGTGAATTTACTTGCATGCT
TGTACTTGACTTCTTAGGATGGGTAGCTGAAAAGACCACCATTTTAAGCATTTGAGAATTCTTAAATATGAAATTTATTCAGAATTGAAG

>In-frame_ENST00000453321_ENST00000295963_TCGA-24-1545_TMEM67_chr8_94770804_+_UBE2K_chr4_39779979_length(amino acids)=158AA_start in transcript=58_stop in transcript=534
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQRQDARGTSCVCLPGFQMISNN

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

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Fusion Gene PPI Analysis for TMEM67-UBE2K

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 TMEM67-UBE2K

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 TMEM67-UBE2K

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	TMEM67	C1846357	Meckel syndrome type 3	11	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	TMEM67	C1857662	COACH syndrome	11	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	TMEM67	C1853153	JOUBERT SYNDROME 6	10	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	TMEM67	C3150796	NEPHRONOPHTHISIS 11	7	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	TMEM67	C0431399	Familial aplasia of the vermis	5	GENOMICS_ENGLAND;ORPHANET
Hgene	TMEM67	C0687120	Nephronophthisis	4	GENOMICS_ENGLAND
Hgene	TMEM67	C3714506	Meckel syndrome type 1	4	GENOMICS_ENGLAND
Hgene	TMEM67	C0265215	Meckel-Gruber syndrome	3	ORPHANET
Hgene	TMEM67	C2673874	BARDET-BIEDL SYNDROME 14 (disorder)	3	CTD_human;GENOMICS_ENGLAND
Hgene	TMEM67	C0009714	Hepatic Fibrosis, Congenital	2	GENOMICS_ENGLAND
Hgene	TMEM67	C0022679	Cystic kidney	1	CTD_human
Hgene	TMEM67	C0023890	Liver Cirrhosis	1	CTD_human
Hgene	TMEM67	C0239946	Fibrosis, Liver	1	CTD_human
Hgene	TMEM67	C0752166	Bardet-Biedl Syndrome	1	CTD_human
Hgene	TMEM67	C1691228	Cystic Kidney Diseases	1	CTD_human
Hgene	TMEM67	C1865794	RHYNS syndrome	1	GENOMICS_ENGLAND;UNIPROT
Hgene	TMEM67	C4551568	Joubert syndrome 1	1	ORPHANET