	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 37317

FusionGeneSummary for TBC1D14_EVC

Fusion gene summary

Fusion gene information	Fusion gene name: TBC1D14_EVC
	Fusion gene ID: 37317
		Hgene	Tgene
	Gene symbol	TBC1D14	EVC
	Gene ID	57533	2121
	Gene name	TBC1 domain family member 14	EvC ciliary complex subunit 1
	Synonyms	-	DWF-1\|EVC1\|EVCL
	Cytomap	4p16.1	4p16.2
	Type of gene	protein-coding	protein-coding
	Description	TBC1 domain family member 14	ellis-van Creveld syndrome proteinEllis van Creveld proteinEllis van Creveld syndrome
	Modification date	20180523	20180519
	UniProtAcc	Q9P2M4	P57679
	Ensembl transtripts involved in fusion gene	ENST00000448507, ENST00000409757, ENST00000410031, ENST00000451522, ENST00000446947,	ENST00000264956, ENST00000382674, ENST00000509451, ENST00000515113,
Fusion gene scores	* DoF score	7 X 4 X 8=224	2 X 3 X 3=18
	# samples	9	3
	** MAII score	log2(9/224*10)=-1.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: TBC1D14 [Title/Abstract] AND EVC [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
TCGA	LD	BRCA	TCGA-EW-A3U0-01A	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
TCGA	RV	SARC	TCGA-DX-AB2O-01A	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+

* 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
Frame-shift	ENST00000448507	ENST00000264956	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
Frame-shift	ENST00000448507	ENST00000382674	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
5CDS-intron	ENST00000448507	ENST00000509451	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
5CDS-intron	ENST00000448507	ENST00000515113	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
Frame-shift	ENST00000409757	ENST00000264956	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
Frame-shift	ENST00000409757	ENST00000382674	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
5CDS-intron	ENST00000409757	ENST00000509451	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
5CDS-intron	ENST00000409757	ENST00000515113	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-3CDS	ENST00000410031	ENST00000264956	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-3CDS	ENST00000410031	ENST00000382674	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-intron	ENST00000410031	ENST00000509451	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-intron	ENST00000410031	ENST00000515113	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-3CDS	ENST00000451522	ENST00000264956	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-3CDS	ENST00000451522	ENST00000382674	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-intron	ENST00000451522	ENST00000509451	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-intron	ENST00000451522	ENST00000515113	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-3CDS	ENST00000446947	ENST00000264956	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-3CDS	ENST00000446947	ENST00000382674	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-intron	ENST00000446947	ENST00000509451	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-intron	ENST00000446947	ENST00000515113	TBC1D14	chr4	6925838	+	EVC	chr4	5803677	+
intron-3CDS	ENST00000448507	ENST00000264956	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-3CDS	ENST00000448507	ENST00000382674	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-intron	ENST00000448507	ENST00000509451	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-intron	ENST00000448507	ENST00000515113	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-3CDS	ENST00000409757	ENST00000264956	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-3CDS	ENST00000409757	ENST00000382674	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-intron	ENST00000409757	ENST00000509451	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-intron	ENST00000409757	ENST00000515113	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-3CDS	ENST00000410031	ENST00000264956	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-3CDS	ENST00000410031	ENST00000382674	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-intron	ENST00000410031	ENST00000509451	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-intron	ENST00000410031	ENST00000515113	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
In-frame	ENST00000451522	ENST00000264956	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
In-frame	ENST00000451522	ENST00000382674	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
5CDS-intron	ENST00000451522	ENST00000509451	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
5CDS-intron	ENST00000451522	ENST00000515113	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-3CDS	ENST00000446947	ENST00000264956	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-3CDS	ENST00000446947	ENST00000382674	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-intron	ENST00000446947	ENST00000509451	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+
intron-intron	ENST00000446947	ENST00000515113	TBC1D14	chr4	6989076	+	EVC	chr4	5785279	+

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FusionProtFeatures for TBC1D14_EVC

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

Hgene	Tgene
TBC1D14 Q9P2M4	EVC P57679
Negative regulator of starvation-induced autophagosomeformation. {ECO:0000269\|PubMed:22613832}.	Component of the EvC complex that positively regulatesciliary Hedgehog (Hh) signaling. Involved in endochondral growthand skeletal development. {ECO:0000250\|UniProtKB:P57680}.

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 TBC1D14_EVC

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.

>In-frame_TBC1D14_ENST00000451522_chr4_6989076_+_EVC_ENST00000264956_chr4_5785279_+_473aa
MELYFSTVDTFQKFVDALFLQTLPGMTGLPPEECDYLRQEVQENAAWQLGKSNRFRRQQWKLFQELLEQDQQVWMEECALSSVLQTHLRE
DHEGTIRGVLGRLGGLTEESTRCVLQGHDLLLRSALRRLALRGNALATLTQMRLSGKKHLLQELREQRALEQGSSQCLDEHQWQLLRALE
ARVLEEASRLEEEAQQTRLQLQQRLLAEAQEVGQLLQQHMECAIGQALLVHARNAATKSRAKDRDDFKRTLMEAAVESVYVTSAGVSRLV
QAYYQQIGRIMEDHEERKLQHLKTLQGERMENYKLRKKQELSNPSSGSRTAGGAHETSQAVHQRMLSQQKRFLAQFPVHQQMRLHAQQQQ
AGVMDLLEAQLETQLQEAEQNFISELAALARVPLAESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQTSGSLSSKRLS

>In-frame_TBC1D14_ENST00000451522_chr4_6989076_+_EVC_ENST00000382674_chr4_5785279_+_473aa
MELYFSTVDTFQKFVDALFLQTLPGMTGLPPEECDYLRQEVQENAAWQLGKSNRFRRQQWKLFQELLEQDQQVWMEECALSSVLQTHLRE
DHEGTIRGVLGRLGGLTEESTRCVLQGHDLLLRSALRRLALRGNALATLTQMRLSGKKHLLQELREQRALEQGSSQCLDEHQWQLLRALE
ARVLEEASRLEEEAQQTRLQLQQRLLAEAQEVGQLLQQHMECAIGQALLVHARNAATKSRAKDRDDFKRTLMEAAVESVYVTSAGVSRLV
QAYYQQIGRIMEDHEERKLQHLKTLQGERMENYKLRKKQELSNPSSGSRTAGGAHETSQAVHQRMLSQQKRFLAQFPVHQQMRLHAQQQQ
AGVMDLLEAQLETQLQEAEQNFISELAALARVPLAESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQTSGSLSSKRLS

* Fusion transcript sequences (only coding sequence (CDS) region).

>In-frame_TBC1D14_ENST00000451522_chr4_6989076_+_EVC_ENST00000264956_chr4_5785279_+_1419nt
ATGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCCTCCCC
CCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGCAGTGG
AAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAGGTGTGGATGGAGGAGTGTGCGCTGTCCAGCGTGCTGCAGACACACCTGCGGGAG
GACCACGAGGGCACCATCCGCGGCGTCTTGGGCCGACTGGGCGGCCTCACTGAAGAGTCCACGCGGTGTGTCCTGCAGGGGCATGACCTG
CTGTTGCGCTCAGCCCTCCGGAGGCTGGCACTCCGCGGCAACGCCCTGGCCACCCTGACGCAGATGCGGCTATCGGGGAAGAAGCACCTC
CTGCAGGAGCTGCGGGAACAGCGTGCACTGGAGCAGGGGTCCTCCCAGTGCCTGGACGAGCATCAGTGGCAGCTGCTCAGGGCCCTGGAG
GCGCGTGTGCTGGAGGAGGCCAGCCGGCTAGAGGAGGAAGCACAGCAGACACGGCTGCAGCTCCAGCAGCGGCTCCTGGCCGAGGCCCAG
GAGGTGGGGCAGCTTCTGCAGCAGCACATGGAGTGCGCCATTGGGCAGGCGCTGCTGGTGCATGCACGGAATGCAGCCACCAAGAGCCGG
GCCAAGGACAGGGATGACTTCAAGAGGACACTGATGGAGGCGGCAGTGGAGAGCGTCTACGTGACCAGCGCTGGTGTCAGCCGCCTGGTG
CAGGCGTATTACCAGCAAATCGGAAGGATCATGGAGGACCACGAGGAGAGAAAACTGCAGCACCTGAAGACCCTGCAGGGTGAGAGGATG
GAAAATTACAAACTGCGGAAAAAGCAAGAACTCAGCAACCCTTCGTCGGGCAGCAGGACGGCAGGTGGCGCTCATGAGACCTCCCAGGCG
GTCCACCAGAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAG
GCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCC
CGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCCTGCCC
CAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGCAGCAAAAGGCTGAGT

>In-frame_TBC1D14_ENST00000451522_chr4_6989076_+_EVC_ENST00000382674_chr4_5785279_+_1419nt
ATGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCCTCCCC
CCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGCAGTGG
AAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAGGTGTGGATGGAGGAGTGTGCGCTGTCCAGCGTGCTGCAGACACACCTGCGGGAG
GACCACGAGGGCACCATCCGCGGCGTCTTGGGCCGACTGGGCGGCCTCACTGAAGAGTCCACGCGGTGTGTCCTGCAGGGGCATGACCTG
CTGTTGCGCTCAGCCCTCCGGAGGCTGGCACTCCGCGGCAACGCCCTGGCCACCCTGACGCAGATGCGGCTATCGGGGAAGAAGCACCTC
CTGCAGGAGCTGCGGGAACAGCGTGCACTGGAGCAGGGGTCCTCCCAGTGCCTGGACGAGCATCAGTGGCAGCTGCTCAGGGCCCTGGAG
GCGCGTGTGCTGGAGGAGGCCAGCCGGCTAGAGGAGGAAGCACAGCAGACACGGCTGCAGCTCCAGCAGCGGCTCCTGGCCGAGGCCCAG
GAGGTGGGGCAGCTTCTGCAGCAGCACATGGAGTGCGCCATTGGGCAGGCGCTGCTGGTGCATGCACGGAATGCAGCCACCAAGAGCCGG
GCCAAGGACAGGGATGACTTCAAGAGGACACTGATGGAGGCGGCAGTGGAGAGCGTCTACGTGACCAGCGCTGGTGTCAGCCGCCTGGTG
CAGGCGTATTACCAGCAAATCGGAAGGATCATGGAGGACCACGAGGAGAGAAAACTGCAGCACCTGAAGACCCTGCAGGGTGAGAGGATG
GAAAATTACAAACTGCGGAAAAAGCAAGAACTCAGCAACCCTTCGTCGGGCAGCAGGACGGCAGGTGGCGCTCATGAGACCTCCCAGGCG
GTCCACCAGAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAG
GCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCC
CGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCCTGCCC
CAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGCAGCAAAAGGCTGAGT

* Fusion transcript sequences (Full-length transcript).

>In-frame_TBC1D14_ENST00000451522_chr4_6989076_+_EVC_ENST00000264956_chr4_5785279_+_4872nt
CAGCGCGGATCGCCTCGCTGTGTCTGCGCGCGATTGAGCGGCCTGCCGCCCCGCCCCGCCCCGCGAGTCTGAGGAGCCGCCGCGTCCGCC
CGCCCGCCCGCGGTCCGGGAGGGAGGGAGGGAGGCCGGCCCTCCGCTCGCTGGGCATGGAGCCTCCGGCCGCGCGCCTCTAAGGCCCCGG
CGTTCATGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCC
TCCCCCCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGC
AGTGGAAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAGGTGTGGATGGAGGAGTGTGCGCTGTCCAGCGTGCTGCAGACACACCTGC
GGGAGGACCACGAGGGCACCATCCGCGGCGTCTTGGGCCGACTGGGCGGCCTCACTGAAGAGTCCACGCGGTGTGTCCTGCAGGGGCATG
ACCTGCTGTTGCGCTCAGCCCTCCGGAGGCTGGCACTCCGCGGCAACGCCCTGGCCACCCTGACGCAGATGCGGCTATCGGGGAAGAAGC
ACCTCCTGCAGGAGCTGCGGGAACAGCGTGCACTGGAGCAGGGGTCCTCCCAGTGCCTGGACGAGCATCAGTGGCAGCTGCTCAGGGCCC
TGGAGGCGCGTGTGCTGGAGGAGGCCAGCCGGCTAGAGGAGGAAGCACAGCAGACACGGCTGCAGCTCCAGCAGCGGCTCCTGGCCGAGG
CCCAGGAGGTGGGGCAGCTTCTGCAGCAGCACATGGAGTGCGCCATTGGGCAGGCGCTGCTGGTGCATGCACGGAATGCAGCCACCAAGA
GCCGGGCCAAGGACAGGGATGACTTCAAGAGGACACTGATGGAGGCGGCAGTGGAGAGCGTCTACGTGACCAGCGCTGGTGTCAGCCGCC
TGGTGCAGGCGTATTACCAGCAAATCGGAAGGATCATGGAGGACCACGAGGAGAGAAAACTGCAGCACCTGAAGACCCTGCAGGGTGAGA
GGATGGAAAATTACAAACTGCGGAAAAAGCAAGAACTCAGCAACCCTTCGTCGGGCAGCAGGACGGCAGGTGGCGCTCATGAGACCTCCC
AGGCGGTCCACCAGAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGC
AGCAGGCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCT
TGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCC
TGCCCCAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGCAGCAAAAGGC
TGAGTCAGCAAGAAAGTGAAGCTGGGGACAGTGGGAACTCAAAGAAGATGCTAAAGAGAAGAAGCAACTTGTAGTTTAAGACCAGTCGGT
GGGACAAGACCTGAAGCCCTGGGTCTGGGTGTGAATTCCACCTTCCCTCCTGCAGTGCTGAGAGGCAGCGAGGACGGAGAGGACAGCGGC
ATCTCTAGGCTCTTCTGAGAGGGACAGAGAAAGAATAGAAATGTGCCCTAAAAGCATAAATGAGTATCACCTGAGAAAATTAGGCATTCC
CGTCTTGGAAACACGTCTCTGTGAGTTTGCATTTCATTTGGCTTGGAGCCCTGGCTCGATGCCTCATGGATCTTTCTCCCCAAGGAGGGA
CGTCTTGAGGGGTCCGAGCCTCAGGCCAAGGACCCCTGATGCAGACTCTGGAATCCCTGGCCCAAAGGCCTGTCTGGGCCCATCTGGGGC
TGAGGACACACAGATACATAATGACACCTGCAGAAATGTATTCTCTGAGGACACTTAGAATATGAGGAAGAGGGTGTGGCCCAACCCTCA
CTTCACCTGGGGAGGGGCTTCTTCCGGACAGTAGACACCCTGCCCGTGCAGAGAGATGTCATGGGGGCACCTGCTCTCCCTGATAGATGC
TGAGAGCATCCAGAAACTTCCAGACCAGCCCTCTCACCACACCCAGAAGAGGCCTTTCCCATCTGGAGAGAAGCTTCCAGACCAGCCCTT
CACACACCACAGCCAGGAGGGGCCTTTCCCACCTGGAGAGAAACTTCCAGACCAGCCCCTCATACCACAGCCAAGAGGGGCCTTTCTCAC
CTGGAGAGAAATTTCCAGACCATCCCCTCTCACCACAGCCAGGAGAGGCCTTTCCCACCGGTAGAGAAACTTCCAGACCAGCCCCTCACA
CCACAGCCAAGAGAAGCCTTTCCAGCCTGGAGAGAAACTTCCAGACCAGCCCTCTCACTACAGCCAGGAGAGGCCTTTCCCGCCTGGAAA
CTTCCGGACAAGCCTCTCACACACCACAGCCAGGAGAGGCCTTTCCCACCTGGACAGAAACTTCCAGACCAGCCCCTCTCACCACAGCCA
GGAGAGGCCTTTACCACCTGGAGAGAAGCTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCACCTGGAGAGAAACTTC
CAGACCAGCCCCTCATACCACAGCCAAGAGGGGCCTTTCTCACCTGGAGAGAAACTTCCAGACCAGCCCCTCACACCACCGCCAGGAGAG
GCCTTTCCCACCGGGAGAGAAACTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCACCGGGAGAGAAACTTCCAGACC
AGCCCTCTCACTACAGCCAGAAGAGGCCTTTCCCACCGGGAGAGGAACTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTC
CCGCCTGGAGAGAAGCTTCAGGCCAGCTCCTCACACCACAGCCAGGAGAGACCTTTTCTGCCTGGAGAGAAACTTTCAGACCAGCCCCAC
ACACCACAGCCAGGAGAGGCCGTTCCTGCCTGGAGAGAAGCTTCCAGACCAGCCCTTCACACCACAGCCAGGAGAGGCCTTTCCCACCTG
GAGAGAAACTTCCAGACCAGCCCCTCTCACCACAGCCAGGAGAGGCCGTTCCCACCTGGAGGGAAAATTGCTCCTTTGATGGAGGTTAGG
GACTGTCACCCTCAGCACTGTGAACATACCGGGCGAGATCATTCTTCAGGGGAAGGAGCTGCCCAGAGCATCACAGGATGTTCCAGTGTC
CCTGGTCTCTGCCCACCAGATGCCAGCACTCCCACCATTCGTGGCAACCAAGGATGTCTCCAGACACTGCCCCGTGTCCATGGGGTTATC
ACCCACTGTGCTGAGTCAAAGGGTGCCTTGCCCTGGTCTAATCCAGGACATAGCCGTGGATACGTCCAAAAATCCCCAGAACCTAGTGAG
CCCTCTGGCTCTGGGAGCCCCTATCTCAGGAATTTTCAGGGTCATTTGTGACTTTTCATTTCTTAAAACCTGAAATAGACTCTCTTAGAA
ACAAGTGACTCCTTCCCAGTGGCCAAAACTTAATCATCAGAGCGCTTCCTTCAGTTCCTCACCCATCAGCCAGTGGGCTCTCCAAAGTTA
ACCAACAGCTCCCTCTTGTGGTTCACTAAAAAACTTGGTTATTCCATGGAGTTGTGCAAAGCTATGGCTTCCTTGGTGCAATATTCTTAA
AACCTGCTTTGCATAGAAATCACTTTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCATGGCAATCTCCATCTCCCGGGTTCAAG
CGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGACGTGTGCCACCACGCCTGGCTAAATCTTTTTTGTATTTTATTTTAGTA
GAGACGGGGTTTCACCATACTGGCCAGGCTGCTCTCGAACTCCTGACCTCATCGTCCACCTGCCTCGGCCTCCCCAAAGTGCTGAGATTA
GGCGTTAGCCACCGCGCCCGGCCAGAAATCACTTTTATATTGTCACATGGGCCCTCTGCACAGAGTCCGATGGCTCCTCCCGGGGAAGCC
TGATTTTGTGACGTGTGTATAGTAAATGCAGGCCCTCTGGCAGCACCATAATTGGTCGGTTACCCTGAGCCCAGAGCTCTGAAAGCATCT
GTGGAATGATCACGGGACCCTTCTCCTCTGAGAAGGCTCCCGGCTGCCTCCCCGCCACCGAGCTTGTAGCCTGAATGCCTGGCTGTCGCA
TGGAGCATTTTGCTTCTGGGGTGTCTTCCTTAGCCAAAGGGAACGTGTCATTTGCTCGACCCTGGCCCACCCTTGCCGCCCAGCTGTTGT
GCTGGGCACAGTCTGGGGCACAGGCCTCCATGATGAAGACGCGTGGGCTGTCGGTGCTTTCATCCGTCACAAACTGGCACCTGTACCTGC
CAGCAGGAGCATGATGGGGACTTCCATGCTGGAATTGCTCCCTGATTAAAATGAGATATGGCTATTTGGAAGACACTGCATTTTAGCCAG
TGTACCTGGGCACAGACTCGGGGCTGCCCTGAAGCTGATGAAGGCTTGAAGGACGGAAGGGCTGAGCCACATGAAGGCAGCACTCAGGGC
CAGGGGAGAGAGAAGAGGATCAGCAGTGCAGCCCCAGGATGCCTCGCAGGTACCCTGCCTCCATTTTGGTTACCATCCCCACTTATTATG
GGCTGTGGGCTGTTATGGTGATGGATGGATGTGGATTTGGAAGGGGACCATGAGAGATGATGTATTATGATGAACTCATGATTTAATTCT

>In-frame_TBC1D14_ENST00000451522_chr4_6989076_+_EVC_ENST00000382674_chr4_5785279_+_5504nt
CAGCGCGGATCGCCTCGCTGTGTCTGCGCGCGATTGAGCGGCCTGCCGCCCCGCCCCGCCCCGCGAGTCTGAGGAGCCGCCGCGTCCGCC
CGCCCGCCCGCGGTCCGGGAGGGAGGGAGGGAGGCCGGCCCTCCGCTCGCTGGGCATGGAGCCTCCGGCCGCGCGCCTCTAAGGCCCCGG
CGTTCATGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCC
TCCCCCCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGC
AGTGGAAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAGGTGTGGATGGAGGAGTGTGCGCTGTCCAGCGTGCTGCAGACACACCTGC
GGGAGGACCACGAGGGCACCATCCGCGGCGTCTTGGGCCGACTGGGCGGCCTCACTGAAGAGTCCACGCGGTGTGTCCTGCAGGGGCATG
ACCTGCTGTTGCGCTCAGCCCTCCGGAGGCTGGCACTCCGCGGCAACGCCCTGGCCACCCTGACGCAGATGCGGCTATCGGGGAAGAAGC
ACCTCCTGCAGGAGCTGCGGGAACAGCGTGCACTGGAGCAGGGGTCCTCCCAGTGCCTGGACGAGCATCAGTGGCAGCTGCTCAGGGCCC
TGGAGGCGCGTGTGCTGGAGGAGGCCAGCCGGCTAGAGGAGGAAGCACAGCAGACACGGCTGCAGCTCCAGCAGCGGCTCCTGGCCGAGG
CCCAGGAGGTGGGGCAGCTTCTGCAGCAGCACATGGAGTGCGCCATTGGGCAGGCGCTGCTGGTGCATGCACGGAATGCAGCCACCAAGA
GCCGGGCCAAGGACAGGGATGACTTCAAGAGGACACTGATGGAGGCGGCAGTGGAGAGCGTCTACGTGACCAGCGCTGGTGTCAGCCGCC
TGGTGCAGGCGTATTACCAGCAAATCGGAAGGATCATGGAGGACCACGAGGAGAGAAAACTGCAGCACCTGAAGACCCTGCAGGGTGAGA
GGATGGAAAATTACAAACTGCGGAAAAAGCAAGAACTCAGCAACCCTTCGTCGGGCAGCAGGACGGCAGGTGGCGCTCATGAGACCTCCC
AGGCGGTCCACCAGAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGC
AGCAGGCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCT
TGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCC
TGCCCCAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGCAGCAAAAGGC
TGAGTCAGCAAGAAAGTGAAGCTGGGGACAGTGGGAACTCAAAGAAGATGCTAAAGAGAAGAAGCAACTTGTAGTTTAAGACCAGTCGGT
GGGACAAGACCTGAAGCCCTGGGTCTGGGTGTGAATTCCACCTTCCCTCCTGCAGTGCTGAGAGGCAGCGAGGACGGAGAGGACAGCGGC
ATCTCTAGGCTCTTCTGAGAGGGACAGAGAAAGAATAGAAATGTGCCCTAAAAGCATAAATGAGTATCACCTGAGAAAATTAGGCATTCC
CGTCTTGGAAACACGTCTCTGTGAGTTTGCATTTCATTTGGCTTGGAGCCCTGGCTCGATGCCTCATGGATCTTTCTCCCCAAGGAGGGA
CGTCTTGAGGGGTCCGAGCCTCAGGCCAAGGACCCCTGATGCAGACTCTGGAATCCCTGGCCCAAAGGCCTGTCTGGGCCCATCTGGGGC
TGAGGACACACAGATACATAATGACACCTGCAGAAATGTATTCTCTGAGGACACTTAGAATATGAGGAAGAGGGTGTGGCCCAACCCTCA
CTTCACCTGGGGAGGGGCTTCTTCCGGACAGTAGACACCCTGCCCGTGCAGAGAGATGTCATGGGGGCACCTGCTCTCCCTGATAGATGC
TGAGAGCATCCAGAAACTTCCAGACCAGCCCTCTCACCACACCCAGAAGAGGCCTTTCCCATCTGGAGAGAAGCTTCCAGACCAGCCCTT
CACACACCACAGCCAGGAGGGGCCTTTCCCACCTGGAGAGAAACTTCCAGACCAGCCCCTCATACCACAGCCAAGAGGGGCCTTTCTCAC
CTGGAGAGAAATTTCCAGACCATCCCCTCTCACCACAGCCAGGAGAGGCCTTTCCCACCGGTAGAGAAACTTCCAGACCAGCCCCTCACA
CCACAGCCAAGAGAAGCCTTTCCAGCCTGGAGAGAAACTTCCAGACCAGCCCTCTCACTACAGCCAGGAGAGGCCTTTCCCGCCTGGAAA
CTTCCGGACAAGCCTCTCACACACCACAGCCAGGAGAGGCCTTTCCCACCTGGACAGAAACTTCCAGACCAGCCCCTCTCACCACAGCCA
GGAGAGGCCTTTACCACCTGGAGAGAAGCTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCACCTGGAGAGAAACTTC
CAGACCAGCCCCTCATACCACAGCCAAGAGGGGCCTTTCTCACCTGGAGAGAAACTTCCAGACCAGCCCCTCACACCACCGCCAGGAGAG
GCCTTTCCCACCGGGAGAGAAACTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCACCGGGAGAGAAACTTCCAGACC
AGCCCTCTCACTACAGCCAGAAGAGGCCTTTCCCACCGGGAGAGGAACTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTC
CCGCCTGGAGAGAAGCTTCAGGCCAGCTCCTCACACCACAGCCAGGAGAGACCTTTTCTGCCTGGAGAGAAACTTTCAGACCAGCCCCAC
ACACCACAGCCAGGAGAGGCCGTTCCTGCCTGGAGAGAAGCTTCCAGACCAGCCCTTCACACCACAGCCAGGAGAGGCCTTTCCCACCTG
GAGAGAAACTTCCAGACCAGCCCCTCTCACCACAGCCAGGAGAGGCCGTTCCCACCTGGAGGGAAAATTGCTCCTTTGATGGAGGTTAGG
GACTGTCACCCTCAGCACTGTGAACATACCGGGCGAGATCATTCTTCAGGGGAAGGAGCTGCCCAGAGCATCACAGGATGTTCCAGTGTC
CCTGGTCTCTGCCCACCAGATGCCAGCACTCCCACCATTCGTGGCAACCAAGGATGTCTCCAGACACTGCCCCGTGTCCATGGGGTTATC
ACCCACTGTGCTGAGTCAAAGGGTGCCTTGCCCTGGTCTAATCCAGGACATAGCCGTGGATACGTCCAAAAATCCCCAGAACCTAGTGAG
CCCTCTGGCTCTGGGAGCCCCTATCTCAGGAATTTTCAGGGTCATTTGTGACTTTTCATTTCTTAAAACCTGAAATAGACTCTCTTAGAA
ACAAGTGACTCCTTCCCAGTGGCCAAAACTTAATCATCAGAGCGCTTCCTTCAGTTCCTCACCCATCAGCCAGTGGGCTCTCCAAAGTTA
ACCAACAGCTCCCTCTTGTGGTTCACTAAAAAACTTGGTTATTCCATGGAGTTGTGCAAAGCTATGGCTTCCTTGGTGCAATATTCTTAA
AACCTGCTTTGCATAGAAATCACTTTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCATGGCAATCTCCATCTCCCGGGTTCAAG
CGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGACGTGTGCCACCACGCCTGGCTAAATCTTTTTTGTATTTTATTTTAGTA
GAGACGGGGTTTCACCATACTGGCCAGGCTGCTCTCGAACTCCTGACCTCATCGTCCACCTGCCTCGGCCTCCCCAAAGTGCTGAGATTA
GGCGTTAGCCACCGCGCCCGGCCAGAAATCACTTTTATATTGTCACATGGGCCCTCTGCACAGAGTCCGATGGCTCCTCCCGGGGAAGCC
TGATTTTGTGACGTGTGTATAGTAAATGCAGGCCCTCTGGCAGCACCATAATTGGTCGGTTACCCTGAGCCCAGAGCTCTGAAAGCATCT
GTGGAATGATCACGGGACCCTTCTCCTCTGAGAAGGCTCCCGGCTGCCTCCCCGCCACCGAGCTTGTAGCCTGAATGCCTGGCTGTCGCA
TGGAGCATTTTGCTTCTGGGGTGTCTTCCTTAGCCAAAGGGAACGTGTCATTTGCTCGACCCTGGCCCACCCTTGCCGCCCAGCTGTTGT
GCTGGGCACAGTCTGGGGCACAGGCCTCCATGATGAAGACGCGTGGGCTGTCGGTGCTTTCATCCGTCACAAACTGGCACCTGTACCTGC
CAGCAGGAGCATGATGGGGACTTCCATGCTGGAATTGCTCCCTGATTAAAATGAGATATGGCTATTTGGAAGACACTGCATTTTAGCCAG
TGTACCTGGGCACAGACTCGGGGCTGCCCTGAAGCTGATGAAGGCTTGAAGGACGGAAGGGCTGAGCCACATGAAGGCAGCACTCAGGGC
CAGGGGAGAGAGAAGAGGATCAGCAGTGCAGCCCCAGGATGCCTCGCAGACGTGCCTTCTGCCATGATTGTGAAGTTCTAGCCACGTGGA
ACTCTCTCGGAAGAACTGGTTGTTAAAGAGCACCTCTGCCTTCTTCCTCTGTTGCCATGTGATCTCTGCACACGCTAGCTCTCCTTCGCC
TTCTGCCATGCTGGAAGTAGCCTGAGGCCCTCACCAGAAGCAGACGCTGGCACCGTGCTGCTTGTACAGCCTGCAGAGCCGTGAGCCAAG
TAAACCTCTTTAATTACCCAGCCTCAGGTGCTCCGGGAACGCCTTCCGCGGAATGAAGCGGCCCATGCCCTTGTTGACGTTGATGTTTCC
GTCTTCAAAGACGATCTTGCCCTGGCTGATGACCACTAGTGGGGAGCCGTGGCACTCCATACCCTCGAAGATGTTGTACTCCACCGCCTG
CACCAACAGCCTCAGTGTTACTTCCCAGGATTTGCTCTGCCCCAAACGAGCTGTTCATAACAGCGATTTTGCCTAACATTATATCATAAG
CGTGTTCCAATGTTTTTTTTTCTCTCTAAAAATACCTTTTATTGACTGTAATATTCCACTGTATGGTCCACAGTGTATATAACCAACAAC
TCACCGTTGCGCATGTAGGCTGCCGGTGGCTTTCTATAATCAAATCAATATTGTTCTGGGGCATCACAAAGAGGAAGGGGGTCCCCCGGG
GTTATGCAATGTGGCTGCTTTGACTGTACTGGACATAAAAATAAGTAAAATGTTCTTCATTTTACTTAAAATGTGTCTTTAAATAAAATT

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FusionGenePPI for TBC1D14_EVC

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
TBC1D14	UBE3A, XPO1, CENPA, PML, TFEB, TRAPPC11, TRAPPC12, TRAPPC13, ADRBK1, TRAPPC8, TRAPPC4, TRAPPC3, TRAPPC6B, SELENBP1, HEPHL1, TRAPPC2, TRAPPC9, TRAPPC5, LRRC15, TRAPPC2L, TRAPPC10, TRAPPC1, TCHH	EVC	SHMT2, NXF1

- 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 TBC1D14_EVC

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 TBC1D14_EVC

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	EVC	C0013903	Ellis-Van Creveld Syndrome	3	CTD_human;ORPHANET;UNIPROT
Tgene	EVC	C0457013	Weyers acrofacial dysostosis	1	CTD_human;ORPHANET;UNIPROT

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Fusion gene ID: 37317

FusionGeneSummary for TBC1D14_EVC

FusionProtFeatures for TBC1D14_EVC

FusionGeneSequence for TBC1D14_EVC

FusionGenePPI for TBC1D14_EVC

RelatedDrugs for TBC1D14_EVC

RelatedDiseases for TBC1D14_EVC