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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
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Fusion gene:ARHGEF7-ITM2B (FusionGDB2 ID:HG8874TG9445)

Fusion Gene Summary for ARHGEF7-ITM2B

Fusion gene summary

Fusion gene information	Fusion gene name: ARHGEF7-ITM2B
	Fusion gene ID: hg8874tg9445
		Hgene	Tgene
	Gene symbol	ARHGEF7	ITM2B
	Gene ID	8874	9445
	Gene name	Rho guanine nucleotide exchange factor 7	integral membrane protein 2B
	Synonyms	BETA-PIX\|COOL-1\|COOL1\|Nbla10314\|P50\|P50BP\|P85\|P85COOL1\|P85SPR\|PAK3\|PIXB	ABRI\|BRI\|BRI2\|BRICD2B\|E25B\|E3-16\|FBD\|RDGCA\|imBRI2
	Cytomap	('ARHGEF7')('ITM2B') 13q34	13q14.2
	Type of gene	protein-coding	protein-coding
	Description	rho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich protein	integral membrane protein 2BABri/ADan amyloid peptideBRICHOS domain containing 2Bepididymis secretory sperm binding proteinimmature BRI2transmembrane protein BRI
	Modification date	20200327	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000483189, ENST00000218789, ENST00000317133, ENST00000370623, ENST00000375723, ENST00000375736, ENST00000375737, ENST00000375739, ENST00000375741, ENST00000426073, ENST00000478679, ENST00000544132,
Fusion gene scores	* DoF score	25 X 17 X 12=5100	19 X 11 X 7=1463
	# samples	26	22
	** MAII score	log2(26/5100*10)=-4.29391371871777 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(22/1463*10)=-2.73335434061383 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ARHGEF7 [Title/Abstract] AND ITM2B [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ARHGEF7(111926299)-ITM2B(48832261), # samples:1
Anticipated loss of major functional domain due to fusion event.	ARHGEF7-ITM2B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ARHGEF7-ITM2B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ARHGEF7-ITM2B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ARHGEF7-ITM2B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
Hgene	ARHGEF7	GO:0043547	positive regulation of GTPase activity	21048939
Tgene	ITM2B	GO:0042985	negative regulation of amyloid precursor protein biosynthetic process	16027166\|18524908

Fusion gene breakpoints across ARHGEF7 (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 ITM2B (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
* 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	COAD	TCGA-AA-3561	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+

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Fusion Gene ORF analysis for ARHGEF7-ITM2B

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
3UTR-3CDS	ENST00000483189	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
3UTR-intron	ENST00000483189	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000218789	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000317133	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000370623	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000375723	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000375736	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000375737	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000375739	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000375741	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000426073	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
5CDS-intron	ENST00000478679	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000218789	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000317133	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000370623	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000375723	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000375736	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000375737	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000375739	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000375741	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000426073	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
In-frame	ENST00000478679	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
intron-3CDS	ENST00000544132	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+
intron-intron	ENST00000544132	ENST00000378549	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+

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)
ENST00000317133	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	3568	2120	710	2467	585
ENST00000375741	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	2973	1525	52	1872	606
ENST00000375739	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	2823	1375	52	1722	556
ENST00000370623	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	2444	996	0	1343	447
ENST00000218789	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	2686	1238	41	1585	514
ENST00000375736	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	2662	1214	17	1561	514
ENST00000426073	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	2545	1097	155	1444	429
ENST00000375737	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	2458	1010	14	1357	447
ENST00000375723	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	2408	960	18	1307	429
ENST00000478679	ARHGEF7	chr13	111926299	+	ENST00000378565	ITM2B	chr13	48832261	+	2018	570	63	917	284

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
ENST00000317133	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.000571165	0.9994288
ENST00000375741	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.00053481	0.99946517
ENST00000375739	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.00048519	0.9995148
ENST00000370623	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.000180107	0.99981993
ENST00000218789	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.000322901	0.99967706
ENST00000375736	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.000305415	0.9996946
ENST00000426073	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.000217009	0.999783
ENST00000375737	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.000300644	0.99969935
ENST00000375723	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.000214553	0.9997855
ENST00000478679	ENST00000378565	ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.00095423	0.9990458

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Fusion Genomic Features for ARHGEF7-ITM2B

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)
ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.000925046	0.99907494
ARHGEF7	chr13	111926299	+	ITM2B	chr13	48832261	+	0.000925046	0.99907494

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 ARHGEF7-ITM2B

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:111926299/chr13:48832261)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
.	.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000317133

184_243

404

783.0

Domain

SH3

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000317133

1_133

404

783.0

Domain

Calponin-homology (CH)

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000370623

184_243

332

732.0

Domain

SH3

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000370623

1_133

332

732.0

Domain

Calponin-homology (CH)

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375723

184_243

247

626.0

Domain

SH3

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375723

1_133

247

626.0

Domain

Calponin-homology (CH)

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375736

184_243

247

647.0

Domain

SH3

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375736

1_133

247

647.0

Domain

Calponin-homology (CH)

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375739

184_243

375

754.0

Domain

SH3

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375739

1_133

375

754.0

Domain

Calponin-homology (CH)

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375741

184_243

425

804.0

Domain

SH3

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375741

1_133

425

804.0

Domain

Calponin-homology (CH)

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000426073

184_243

247

647.0

Domain

SH3

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000426073

1_133

247

647.0

Domain

Calponin-homology (CH)

- 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

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000317133

271_451

404

783.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000317133

473_578

404

783.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000370623

271_451

332

732.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000370623

473_578

332

732.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375723

271_451

247

626.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375723

473_578

247

626.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375736

271_451

247

647.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375736

473_578

247

647.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375739

271_451

375

754.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375739

473_578

375

754.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375741

271_451

425

804.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000375741

473_578

425

804.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000426073

271_451

247

647.0

Domain

Hgene

ARHGEF7

chr13:111926299

chr13:48832261

ENST00000426073

473_578

247

647.0

Domain

Tgene

ITM2B

chr13:111926299

chr13:48832261

ENST00000378565

137_231

151

267.0

Domain

BRICHOS

Tgene

ITM2B

chr13:111926299

chr13:48832261

ENST00000378565

1_54

151

267.0

Topological domain

Cytoplasmic

Tgene

ITM2B

chr13:111926299

chr13:48832261

ENST00000378565

76_266

151

267.0

Topological domain

Lumenal

Tgene

ITM2B

chr13:111926299

chr13:48832261

ENST00000378565

55_75

151

267.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

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Fusion Gene Sequence for ARHGEF7-ITM2B

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.

>6348_6348_1_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000218789_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=2686nt_BP=1238nt
AAAAAAGGGTGAGGAGAAGCAGCGGCTGAGCGGGTTGGCATCTGGGGCAGCGGGCTCGCTCCAGGCCGTCGGGGGCCGCTCGCCAGCGTC
GCCCGCTGTGTTGGGAGCGCGGGCCGTGGGCGTCGCTCGGCCTTGTCCGCGGCGTCCCCGCTGCCGGCCACGGCGCTCAGCGCTTGTGCT
CTGTATTGCAGGTCTACCCCGAGCCCCGGAGCGAGAGCGAGTGCCTGAGCAACATCCGCGAGTTCCTGCGCGGCTGCGGGGCTTCCCTGC
GGCTGGAGACGTTTGATGCAAATGATTTGTATCAGGGGCAGAATTTTAACAAGGTCCTCAGTTCCTTAGTGACTCTAAATAAAGTAACAG
CAGACATCGGGCTGGGGAGTGACTCCGTGTGTGCCCGGCCCTCGTCTCACCGCATAAAGTCTTTTGACTCCCTTGGATCACAGTCTTTGC
ACACTCGGACTTCAAAACTGTTCCAGGGCCAGTATCGGAGTTTGGACATGACCGATAATAGCAACAATCAACTGGTAGTAAGAGCAAAGT
TTAACTTCCAGCAGACCAATGAGGACGAGCTTTCCTTCTCAAAAGGAGACGTCATCCATGTCACCCGTGTGGAAGAGGGAGGCTGGTGGG
AGGGCACACTCAACGGCCGGACCGGCTGGTTCCCCAGCAACTACGTGCGCGAGGTCAAGGCCAGCGAGAAGCCTGTGTCTCCCAAATCAG
GAACACTGAAGAGCCCTCCCAAAGGATTTGATACGACTGCCATAAACAAAAGCTATTACAATGTGGTGCTACAGAATATTTTAGAAACAG
AAAATGAATATTCTAAAGAACTTCAGACTGTGCTTTCAACGTACCTACGGCCATTGCAGACCAGTGAGAAGTTAAGTTCAGCAAACATTT
CATATTTAATGGGAAATCTAGAAGAAATATGTTCTTTCCAGCAAATGCTCGTACAGTCTTTAGAAGAATGCACCAAGTTGCCCGAAGCTC
AGCAGAGAGTCGGAGGCTGCTTTTTAAACCTGATGCCACAGATGAAAACCCTGTACCTCACGTATTGTGCCAATCACCCTTCTGCAGTGA
ATGTCCTCACGGAACACAGTGAGGAGTTGGGGGAGTTCATGGAGACCAAAGGTGCCAGCAGCCCTGGGATTCTCGTGCTGACCACGGGCC
TGAGCAAACCCTTCATGCGCCTGGATAAATACCCTACGCTGCTCAAAGAGCTCGAGAGACACATGGAGAAACTTACAGCCTATTTAGATC
TTAACCTGGATAAGTGCTATGTGATCCCTCTGAACACTTCCATTGTTATGCCACCCAGAAACCTACTGGAGTTACTTATTAACATCAAGG
CTGGAACCTATTTGCCTCAGTCCTATCTGATTCATGAGCACATGGTTATTACTGATCGCATTGAAAACATTGATCACCTGGGTTTCTTTA
TTTATCGACTGTGTCATGACAAGGAAACTTACAAACTGCAACGCAGAGAAACTATTAAAGGTATTCAGAAACGTGAAGCCAGCAATTGTT
TCGCAATTCGGCATTTTGAAAACAAATTTGCCGTGGAAACTTTAATTTGTTCTTGAACAGTCAAGAAAAACATTATTGAGGAAAATTAAT
ATCACAGCATAACCCCACCCTTTACATTTTGTGCAGTGATTATTTTTTAAAGTCTTCTTTCATGTAAGTAGCAAACAGGGCTTTACTATC
TTTTCATCTCATTAATTCAATTAAAACCATTACCTTAAAATTTTTTTCTTTCGAAGTGTGGTGTCTTTTATATTTGAATTAGTAACTGTA
TGAAGTCATAGATAATAGTACATGTCACCTTAGGTAGTAGGAAGAATTACAATTTCTTTAAATCATTTATCTGGATTTTTATGTTTTATT
AGCATTTTCAAGAAGACGGATTATCTAGAGAATAATCATATATATGCATACGTAAAAATGGACCACAGTGACTTATTTGTAGTTGTTAGT
TGCCCTGCTACCTAGTTTGTTAGTGCATTTGAGCACACATTTTAATTTTCCTCTAATTAAAATGTGCAGTATTTTCAGTGTCAAATATAT
TTAACTATTTAGAGAATGATTTCCACCTTTATGTTTTAATATCCTAGGCATCTGCTGTAATAATATTTTAGAAAATGTTTGGAATTTAAG
AAATAACTTGTGTTACTAATTTGTATAACCCATATCTGTGCAATGGAATATAAATATCACAAAGTTGTTTAACTAGACTGCGTGTTGTTT
TTCCCGTATAATAAAACCAAAGAATAGTTTGGTTCTTCAAATCTTAAGAGAATCCACATAAAAGAAGAAACTATTTTTTAAAAATTCACT
TCTATATATACAATGAGTAAAATCACAGATTTTTTCTTTAAATAAAAATAAGTCATTTTAATAACTAAACCAGATTCTTTGTGGATACTA
TTAAAGTAACATTTAAGCCTCAACCTTGAATGATGTTGTTTAATATAAAATGCTTTTATTTTTGATGGAAAGGCAATCAAAGCCTAAAGT
TTCCAAGGAACGTAAAATAACTGTGCTTCTCTGAGAATGCCCGCCTCACAAGTGGAACATTTTGAGTTAATAATGATGATTTTTATGTTT

>6348_6348_1_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000218789_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=514AA_BP=399
MGQRARSRPSGAARQRRPLCWERGPWASLGLVRGVPAAGHGAQRLCSVLQVYPEPRSESECLSNIREFLRGCGASLRLETFDANDLYQGQ
NFNKVLSSLVTLNKVTADIGLGSDSVCARPSSHRIKSFDSLGSQSLHTRTSKLFQGQYRSLDMTDNSNNQLVVRAKFNFQQTNEDELSFS
KGDVIHVTRVEEGGWWEGTLNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQTVLST
YLRPLQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLTYCANHPSAVNVLTEHSEELGEFM
ETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEKLTAYLDLNLDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIHEH

--------------------------------------------------------------
>6348_6348_2_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000317133_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=3568nt_BP=2120nt
CCCCGAGACGCAGCCAGGCGCCCGGCCCGGCCCGGCCCGGCCCTCTGCACAGCCCCACTTCAGGCCACGCCGTTTCCTTGACCTTCCCCC
GGCAGGGTCTGAAGCGTCACCGTCCGTCTAGAGCAGAGTCGCGCAGGCCCCTGCCCTGCCGGTGAGGTCGGCGCCGCGCTCCGGAGAGTC
GGTTCCTCCCGATTCAGACCCATATGGCTTCAGATGGAACCATCATTTCTGTTCCGTCATGACCGGCTTGCAAGGTAGCAAAGCGAAACA
AACGTCTCGTTTTCAGCCTGTCCCCGCCACCTTGAAATAAAACCGGCAAAAATAAAAAGAGCATTCTGGGAAGTACTTCATCATTTCAAC
GCTCACGAATTCAAAACATAAACAAAGGCTTCCGAGTGCCCCGGCCAGGGGCGCGGGGCGCACGGCGGGCCCGGGGCAGGTAAGCGCAGG
TGCGCGCCCGCCCCCACCCCCGGCTCCCTCCCCATCCGCTCCCCGCTCCCCTTCCCCTTTCCCTTCCCCGCCCGCTCCCAGCCGCCGCCG
CCGCCCCGCGCACGGCCTGGAGCGGAGGCTGCGCAGGGCGCGGGGCGGCGCGGGCCGGGCGCGGGCCGGGCGGACGGCCGCGTCTTTCTT
CTCCTGGCGGTGATGTCATTGGGCGACGGCGGCCGAGGCCGGGGGGCGGCGGCGGGCGCCCGCAGGTTCCCGAGCCGCTCCTGAGAAGGC
GCCTGACAGCGGGCCGGGGCGCACGGAGAAGCGGGCCGGGCCGGACCTGCTGGGCCGCGCCGAGCCAATCGCCGGCGCCGGCCGCTCGAT
GGGCGAGGCGGCGGCGGCGGCGGCGGGGGCCGCGGGCCGGGCCGCCGCTCCGAGGTGAAGGCGCGCGCCCCTCCCCGCCTGCCTCCCGGG
CCGCAGCGATGAATTCCGCCGAGCAAACCGTTACGTGGCTCATCACTCTGGGGGTGCTGGAGTCGCCCAAAAAAACCATCTCGGACCCGG
AGGGCTTTCTGCAGGCGTCGCTGAAGGATGGGGTGGTCCTCTGCAGGCTGCTGGAGCGCCTGCTCCCCGGGACCATCGAGAAAGTCTACC
CCGAGCCCCGGAGCGAGAGCGAGTGCCTGAGCAACATCCGCGAGTTCCTGCGCGGCTGCGGGGCTTCCCTGCGGCTGGAGACGTTTGATG
CAAATGATTTGTATCAGGGGCAGAATTTTAACAAGGTCCTCAGTTCCTTAGTGACTCTAAATAAAGTAACAGCAGACATCGGGCTGGGGA
GTGACTCCGTGTGTGCCCGGCCCTCGTCTCACCGCATAAAGTCTTTTGACTCCCTTGGATCACAGTCTTTGCACACTCGGACTTCAAAAC
TGTTCCAGGGCCAGTATCGGAGTTTGGACATGACCGATAATAGCAACAATCAACTGGTAGTAAGAGCAAAGTTTAACTTCCAGCAGACCA
ATGAGGACGAGCTTTCCTTCTCAAAAGGAGACGTCATCCATGTCACCCGTGTGGAAGAGGGAGGCTGGTGGGAGGGCACACTCAACGGCC
GGACCGGCTGGTTCCCCAGCAACTACGTGCGCGAGGTCAAGGCCAGCGAGAAGCCTGTGTCTCCCAAATCAGGAACACTGAAGAGCCCTC
CCAAAGGATTTGATACGACTGCCATAAACAAAAGCTATTACAATGTGGTGCTACAGAATATTTTAGAAACAGAAAATGAATATTCTAAAG
AACTTCAGACTGTGCTTTCAACGTACCTACGGCCATTGCAGACCAGTGAGAAGTTAAGTTCAGCAAACATTTCATATTTAATGGGAAATC
TAGAAGAAATATGTTCTTTCCAGCAAATGCTCGTACAGTCTTTAGAAGAATGCACCAAGTTGCCCGAAGCTCAGCAGAGAGTCGGAGGCT
GCTTTTTAAACCTGATGCCACAGATGAAAACCCTGTACCTCACGTATTGTGCCAATCACCCTTCTGCAGTGAATGTCCTCACGGAACACA
GTGAGGAGTTGGGGGAGTTCATGGAGACCAAAGGTGCCAGCAGCCCTGGGATTCTCGTGCTGACCACGGGCCTGAGCAAACCCTTCATGC
GCCTGGATAAATACCCTACGCTGCTCAAAGAGCTCGAGAGACACATGGAGAAACTTACAGCCTATTTAGATCTTAACCTGGATAAGTGCT
ATGTGATCCCTCTGAACACTTCCATTGTTATGCCACCCAGAAACCTACTGGAGTTACTTATTAACATCAAGGCTGGAACCTATTTGCCTC
AGTCCTATCTGATTCATGAGCACATGGTTATTACTGATCGCATTGAAAACATTGATCACCTGGGTTTCTTTATTTATCGACTGTGTCATG
ACAAGGAAACTTACAAACTGCAACGCAGAGAAACTATTAAAGGTATTCAGAAACGTGAAGCCAGCAATTGTTTCGCAATTCGGCATTTTG
AAAACAAATTTGCCGTGGAAACTTTAATTTGTTCTTGAACAGTCAAGAAAAACATTATTGAGGAAAATTAATATCACAGCATAACCCCAC
CCTTTACATTTTGTGCAGTGATTATTTTTTAAAGTCTTCTTTCATGTAAGTAGCAAACAGGGCTTTACTATCTTTTCATCTCATTAATTC
AATTAAAACCATTACCTTAAAATTTTTTTCTTTCGAAGTGTGGTGTCTTTTATATTTGAATTAGTAACTGTATGAAGTCATAGATAATAG
TACATGTCACCTTAGGTAGTAGGAAGAATTACAATTTCTTTAAATCATTTATCTGGATTTTTATGTTTTATTAGCATTTTCAAGAAGACG
GATTATCTAGAGAATAATCATATATATGCATACGTAAAAATGGACCACAGTGACTTATTTGTAGTTGTTAGTTGCCCTGCTACCTAGTTT
GTTAGTGCATTTGAGCACACATTTTAATTTTCCTCTAATTAAAATGTGCAGTATTTTCAGTGTCAAATATATTTAACTATTTAGAGAATG
ATTTCCACCTTTATGTTTTAATATCCTAGGCATCTGCTGTAATAATATTTTAGAAAATGTTTGGAATTTAAGAAATAACTTGTGTTACTA
ATTTGTATAACCCATATCTGTGCAATGGAATATAAATATCACAAAGTTGTTTAACTAGACTGCGTGTTGTTTTTCCCGTATAATAAAACC
AAAGAATAGTTTGGTTCTTCAAATCTTAAGAGAATCCACATAAAAGAAGAAACTATTTTTTAAAAATTCACTTCTATATATACAATGAGT
AAAATCACAGATTTTTTCTTTAAATAAAAATAAGTCATTTTAATAACTAAACCAGATTCTTTGTGGATACTATTAAAGTAACATTTAAGC
CTCAACCTTGAATGATGTTGTTTAATATAAAATGCTTTTATTTTTGATGGAAAGGCAATCAAAGCCTAAAGTTTCCAAGGAACGTAAAAT
AACTGTGCTTCTCTGAGAATGCCCGCCTCACAAGTGGAACATTTTGAGTTAATAATGATGATTTTTATGTTTCTAAGGTTGCTTCCTCTC

>6348_6348_2_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000317133_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=585AA_BP=470
MRRRLTAGRGARRSGPGRTCWAAPSQSPAPAARWARRRRRRRGPRAGPPLRGEGARPSPPASRAAAMNSAEQTVTWLITLGVLESPKKTI
SDPEGFLQASLKDGVVLCRLLERLLPGTIEKVYPEPRSESECLSNIREFLRGCGASLRLETFDANDLYQGQNFNKVLSSLVTLNKVTADI
GLGSDSVCARPSSHRIKSFDSLGSQSLHTRTSKLFQGQYRSLDMTDNSNNQLVVRAKFNFQQTNEDELSFSKGDVIHVTRVEEGGWWEGT
LNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQTVLSTYLRPLQTSEKLSSANISYL
MGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLTYCANHPSAVNVLTEHSEELGEFMETKGASSPGILVLTTGLSK
PFMRLDKYPTLLKELERHMEKLTAYLDLNLDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIHEHMVITDRIENIDHLGFFIYR

--------------------------------------------------------------
>6348_6348_3_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000370623_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=2444nt_BP=996nt
ATGAATTCCGCCGAGCAAACCGTTACGTGGCTCATCACTCTGGGGGTGCTGGAGTCGCCCAAAAAAACCATCTCGGACCCGGAGGGCTTT
CTGCAGGCGTCGCTGAAGGATGGGGTGGTCCTCTGCAGGCTGCTGGAGCGCCTGCTCCCCGGGACCATCGAGAAAGTCTACCCCGAGCCC
CGGAGCGAGAGCGAGTGCCTGAGCAACATCCGCGAGTTCCTGCGCGGCTGCGGGGCTTCCCTGCGGCTGGAGGACATGACCGATAATAGC
AACAATCAACTGGTAGTAAGAGCAAAGTTTAACTTCCAGCAGACCAATGAGGACGAGCTTTCCTTCTCAAAAGGAGACGTCATCCATGTC
ACCCGTGTGGAAGAGGGAGGCTGGTGGGAGGGCACACTCAACGGCCGGACCGGCTGGTTCCCCAGCAACTACGTGCGCGAGGTCAAGGCC
AGCGAGAAGCCTGTGTCTCCCAAATCAGGAACACTGAAGAGCCCTCCCAAAGGATTTGATACGACTGCCATAAACAAAAGCTATTACAAT
GTGGTGCTACAGAATATTTTAGAAACAGAAAATGAATATTCTAAAGAACTTCAGACTGTGCTTTCAACGTACCTACGGCCATTGCAGACC
AGTGAGAAGTTAAGTTCAGCAAACATTTCATATTTAATGGGAAATCTAGAAGAAATATGTTCTTTCCAGCAAATGCTCGTACAGTCTTTA
GAAGAATGCACCAAGTTGCCCGAAGCTCAGCAGAGAGTCGGAGGCTGCTTTTTAAACCTGATGCCACAGATGAAAACCCTGTACCTCACG
TATTGTGCCAATCACCCTTCTGCAGTGAATGTCCTCACGGAACACAGTGAGGAGTTGGGGGAGTTCATGGAGACCAAAGGTGCCAGCAGC
CCTGGGATTCTCGTGCTGACCACGGGCCTGAGCAAACCCTTCATGCGCCTGGATAAATACCCTACGCTGCTCAAAGAGCTCGAGAGACAC
ATGGAGAAACTTACAGCCTATTTAGATCTTAACCTGGATAAGTGCTATGTGATCCCTCTGAACACTTCCATTGTTATGCCACCCAGAAAC
CTACTGGAGTTACTTATTAACATCAAGGCTGGAACCTATTTGCCTCAGTCCTATCTGATTCATGAGCACATGGTTATTACTGATCGCATT
GAAAACATTGATCACCTGGGTTTCTTTATTTATCGACTGTGTCATGACAAGGAAACTTACAAACTGCAACGCAGAGAAACTATTAAAGGT
ATTCAGAAACGTGAAGCCAGCAATTGTTTCGCAATTCGGCATTTTGAAAACAAATTTGCCGTGGAAACTTTAATTTGTTCTTGAACAGTC
AAGAAAAACATTATTGAGGAAAATTAATATCACAGCATAACCCCACCCTTTACATTTTGTGCAGTGATTATTTTTTAAAGTCTTCTTTCA
TGTAAGTAGCAAACAGGGCTTTACTATCTTTTCATCTCATTAATTCAATTAAAACCATTACCTTAAAATTTTTTTCTTTCGAAGTGTGGT
GTCTTTTATATTTGAATTAGTAACTGTATGAAGTCATAGATAATAGTACATGTCACCTTAGGTAGTAGGAAGAATTACAATTTCTTTAAA
TCATTTATCTGGATTTTTATGTTTTATTAGCATTTTCAAGAAGACGGATTATCTAGAGAATAATCATATATATGCATACGTAAAAATGGA
CCACAGTGACTTATTTGTAGTTGTTAGTTGCCCTGCTACCTAGTTTGTTAGTGCATTTGAGCACACATTTTAATTTTCCTCTAATTAAAA
TGTGCAGTATTTTCAGTGTCAAATATATTTAACTATTTAGAGAATGATTTCCACCTTTATGTTTTAATATCCTAGGCATCTGCTGTAATA
ATATTTTAGAAAATGTTTGGAATTTAAGAAATAACTTGTGTTACTAATTTGTATAACCCATATCTGTGCAATGGAATATAAATATCACAA
AGTTGTTTAACTAGACTGCGTGTTGTTTTTCCCGTATAATAAAACCAAAGAATAGTTTGGTTCTTCAAATCTTAAGAGAATCCACATAAA
AGAAGAAACTATTTTTTAAAAATTCACTTCTATATATACAATGAGTAAAATCACAGATTTTTTCTTTAAATAAAAATAAGTCATTTTAAT
AACTAAACCAGATTCTTTGTGGATACTATTAAAGTAACATTTAAGCCTCAACCTTGAATGATGTTGTTTAATATAAAATGCTTTTATTTT
TGATGGAAAGGCAATCAAAGCCTAAAGTTTCCAAGGAACGTAAAATAACTGTGCTTCTCTGAGAATGCCCGCCTCACAAGTGGAACATTT
TGAGTTAATAATGATGATTTTTATGTTTCTAAGGTTGCTTCCTCTCTGAAATAATTCAGAATCCACCCCCATTTAATAAAATACCTATGA

>6348_6348_3_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000370623_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=447AA_BP=332
MNSAEQTVTWLITLGVLESPKKTISDPEGFLQASLKDGVVLCRLLERLLPGTIEKVYPEPRSESECLSNIREFLRGCGASLRLEDMTDNS
NNQLVVRAKFNFQQTNEDELSFSKGDVIHVTRVEEGGWWEGTLNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYN
VVLQNILETENEYSKELQTVLSTYLRPLQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLT
YCANHPSAVNVLTEHSEELGEFMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEKLTAYLDLNLDKCYVIPLNTSIVMPPRN

--------------------------------------------------------------
>6348_6348_4_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375723_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=2408nt_BP=960nt
ACGTTTGATGCAAATGATTTGTATCAGGGGCAGAATTTTAACAAGGTCCTCAGTTCCTTAGTGACTCTAAATAAAGTAACAGCAGACATC
GGGCTGGGGAGTGACTCCGTGTGTGCCCGGCCCTCGTCTCACCGCATAAAGTCTTTTGACTCCCTTGGATCACAGTCTTTGCACACTCGG
ACTTCAAAACTGTTCCAGGGCCAGTATCGGAGTTTGGACATGACCGATAATAGCAACAATCAACTGGTAGTAAGAGCAAAGTTTAACTTC
CAGCAGACCAATGAGGACGAGCTTTCCTTCTCAAAAGGAGACGTCATCCATGTCACCCGTGTGGAAGAGGGAGGCTGGTGGGAGGGCACA
CTCAACGGCCGGACCGGCTGGTTCCCCAGCAACTACGTGCGCGAGGTCAAGGCCAGCGAGAAGCCTGTGTCTCCCAAATCAGGAACACTG
AAGAGCCCTCCCAAAGGATTTGATACGACTGCCATAAACAAAAGCTATTACAATGTGGTGCTACAGAATATTTTAGAAACAGAAAATGAA
TATTCTAAAGAACTTCAGACTGTGCTTTCAACGTACCTACGGCCATTGCAGACCAGTGAGAAGTTAAGTTCAGCAAACATTTCATATTTA
ATGGGAAATCTAGAAGAAATATGTTCTTTCCAGCAAATGCTCGTACAGTCTTTAGAAGAATGCACCAAGTTGCCCGAAGCTCAGCAGAGA
GTCGGAGGCTGCTTTTTAAACCTGATGCCACAGATGAAAACCCTGTACCTCACGTATTGTGCCAATCACCCTTCTGCAGTGAATGTCCTC
ACGGAACACAGTGAGGAGTTGGGGGAGTTCATGGAGACCAAAGGTGCCAGCAGCCCTGGGATTCTCGTGCTGACCACGGGCCTGAGCAAA
CCCTTCATGCGCCTGGATAAATACCCTACGCTGCTCAAAGAGCTCGAGAGACACATGGAGAAACTTACAGCCTATTTAGATCTTAACCTG
GATAAGTGCTATGTGATCCCTCTGAACACTTCCATTGTTATGCCACCCAGAAACCTACTGGAGTTACTTATTAACATCAAGGCTGGAACC
TATTTGCCTCAGTCCTATCTGATTCATGAGCACATGGTTATTACTGATCGCATTGAAAACATTGATCACCTGGGTTTCTTTATTTATCGA
CTGTGTCATGACAAGGAAACTTACAAACTGCAACGCAGAGAAACTATTAAAGGTATTCAGAAACGTGAAGCCAGCAATTGTTTCGCAATT
CGGCATTTTGAAAACAAATTTGCCGTGGAAACTTTAATTTGTTCTTGAACAGTCAAGAAAAACATTATTGAGGAAAATTAATATCACAGC
ATAACCCCACCCTTTACATTTTGTGCAGTGATTATTTTTTAAAGTCTTCTTTCATGTAAGTAGCAAACAGGGCTTTACTATCTTTTCATC
TCATTAATTCAATTAAAACCATTACCTTAAAATTTTTTTCTTTCGAAGTGTGGTGTCTTTTATATTTGAATTAGTAACTGTATGAAGTCA
TAGATAATAGTACATGTCACCTTAGGTAGTAGGAAGAATTACAATTTCTTTAAATCATTTATCTGGATTTTTATGTTTTATTAGCATTTT
CAAGAAGACGGATTATCTAGAGAATAATCATATATATGCATACGTAAAAATGGACCACAGTGACTTATTTGTAGTTGTTAGTTGCCCTGC
TACCTAGTTTGTTAGTGCATTTGAGCACACATTTTAATTTTCCTCTAATTAAAATGTGCAGTATTTTCAGTGTCAAATATATTTAACTAT
TTAGAGAATGATTTCCACCTTTATGTTTTAATATCCTAGGCATCTGCTGTAATAATATTTTAGAAAATGTTTGGAATTTAAGAAATAACT
TGTGTTACTAATTTGTATAACCCATATCTGTGCAATGGAATATAAATATCACAAAGTTGTTTAACTAGACTGCGTGTTGTTTTTCCCGTA
TAATAAAACCAAAGAATAGTTTGGTTCTTCAAATCTTAAGAGAATCCACATAAAAGAAGAAACTATTTTTTAAAAATTCACTTCTATATA
TACAATGAGTAAAATCACAGATTTTTTCTTTAAATAAAAATAAGTCATTTTAATAACTAAACCAGATTCTTTGTGGATACTATTAAAGTA
ACATTTAAGCCTCAACCTTGAATGATGTTGTTTAATATAAAATGCTTTTATTTTTGATGGAAAGGCAATCAAAGCCTAAAGTTTCCAAGG
AACGTAAAATAACTGTGCTTCTCTGAGAATGCCCGCCTCACAAGTGGAACATTTTGAGTTAATAATGATGATTTTTATGTTTCTAAGGTT

>6348_6348_4_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375723_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=429AA_BP=314
MYQGQNFNKVLSSLVTLNKVTADIGLGSDSVCARPSSHRIKSFDSLGSQSLHTRTSKLFQGQYRSLDMTDNSNNQLVVRAKFNFQQTNED
ELSFSKGDVIHVTRVEEGGWWEGTLNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQ
TVLSTYLRPLQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLTYCANHPSAVNVLTEHSEE
LGEFMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEKLTAYLDLNLDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSY

--------------------------------------------------------------
>6348_6348_5_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375736_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=2662nt_BP=1214nt
GCTGAGCGGGTTGGCATCTGGGGCAGCGGGCTCGCTCCAGGCCGTCGGGGGCCGCTCGCCAGCGTCGCCCGCTGTGTTGGGAGCGCGGGC
CGTGGGCGTCGCTCGGCCTTGTCCGCGGCGTCCCCGCTGCCGGCCACGGCGCTCAGCGCTTGTGCTCTGTATTGCAGGTCTACCCCGAGC
CCCGGAGCGAGAGCGAGTGCCTGAGCAACATCCGCGAGTTCCTGCGCGGCTGCGGGGCTTCCCTGCGGCTGGAGACGTTTGATGCAAATG
ATTTGTATCAGGGGCAGAATTTTAACAAGGTCCTCAGTTCCTTAGTGACTCTAAATAAAGTAACAGCAGACATCGGGCTGGGGAGTGACT
CCGTGTGTGCCCGGCCCTCGTCTCACCGCATAAAGTCTTTTGACTCCCTTGGATCACAGTCTTTGCACACTCGGACTTCAAAACTGTTCC
AGGGCCAGTATCGGAGTTTGGACATGACCGATAATAGCAACAATCAACTGGTAGTAAGAGCAAAGTTTAACTTCCAGCAGACCAATGAGG
ACGAGCTTTCCTTCTCAAAAGGAGACGTCATCCATGTCACCCGTGTGGAAGAGGGAGGCTGGTGGGAGGGCACACTCAACGGCCGGACCG
GCTGGTTCCCCAGCAACTACGTGCGCGAGGTCAAGGCCAGCGAGAAGCCTGTGTCTCCCAAATCAGGAACACTGAAGAGCCCTCCCAAAG
GATTTGATACGACTGCCATAAACAAAAGCTATTACAATGTGGTGCTACAGAATATTTTAGAAACAGAAAATGAATATTCTAAAGAACTTC
AGACTGTGCTTTCAACGTACCTACGGCCATTGCAGACCAGTGAGAAGTTAAGTTCAGCAAACATTTCATATTTAATGGGAAATCTAGAAG
AAATATGTTCTTTCCAGCAAATGCTCGTACAGTCTTTAGAAGAATGCACCAAGTTGCCCGAAGCTCAGCAGAGAGTCGGAGGCTGCTTTT
TAAACCTGATGCCACAGATGAAAACCCTGTACCTCACGTATTGTGCCAATCACCCTTCTGCAGTGAATGTCCTCACGGAACACAGTGAGG
AGTTGGGGGAGTTCATGGAGACCAAAGGTGCCAGCAGCCCTGGGATTCTCGTGCTGACCACGGGCCTGAGCAAACCCTTCATGCGCCTGG
ATAAATACCCTACGCTGCTCAAAGAGCTCGAGAGACACATGGAGAAACTTACAGCCTATTTAGATCTTAACCTGGATAAGTGCTATGTGA
TCCCTCTGAACACTTCCATTGTTATGCCACCCAGAAACCTACTGGAGTTACTTATTAACATCAAGGCTGGAACCTATTTGCCTCAGTCCT
ATCTGATTCATGAGCACATGGTTATTACTGATCGCATTGAAAACATTGATCACCTGGGTTTCTTTATTTATCGACTGTGTCATGACAAGG
AAACTTACAAACTGCAACGCAGAGAAACTATTAAAGGTATTCAGAAACGTGAAGCCAGCAATTGTTTCGCAATTCGGCATTTTGAAAACA
AATTTGCCGTGGAAACTTTAATTTGTTCTTGAACAGTCAAGAAAAACATTATTGAGGAAAATTAATATCACAGCATAACCCCACCCTTTA
CATTTTGTGCAGTGATTATTTTTTAAAGTCTTCTTTCATGTAAGTAGCAAACAGGGCTTTACTATCTTTTCATCTCATTAATTCAATTAA
AACCATTACCTTAAAATTTTTTTCTTTCGAAGTGTGGTGTCTTTTATATTTGAATTAGTAACTGTATGAAGTCATAGATAATAGTACATG
TCACCTTAGGTAGTAGGAAGAATTACAATTTCTTTAAATCATTTATCTGGATTTTTATGTTTTATTAGCATTTTCAAGAAGACGGATTAT
CTAGAGAATAATCATATATATGCATACGTAAAAATGGACCACAGTGACTTATTTGTAGTTGTTAGTTGCCCTGCTACCTAGTTTGTTAGT
GCATTTGAGCACACATTTTAATTTTCCTCTAATTAAAATGTGCAGTATTTTCAGTGTCAAATATATTTAACTATTTAGAGAATGATTTCC
ACCTTTATGTTTTAATATCCTAGGCATCTGCTGTAATAATATTTTAGAAAATGTTTGGAATTTAAGAAATAACTTGTGTTACTAATTTGT
ATAACCCATATCTGTGCAATGGAATATAAATATCACAAAGTTGTTTAACTAGACTGCGTGTTGTTTTTCCCGTATAATAAAACCAAAGAA
TAGTTTGGTTCTTCAAATCTTAAGAGAATCCACATAAAAGAAGAAACTATTTTTTAAAAATTCACTTCTATATATACAATGAGTAAAATC
ACAGATTTTTTCTTTAAATAAAAATAAGTCATTTTAATAACTAAACCAGATTCTTTGTGGATACTATTAAAGTAACATTTAAGCCTCAAC
CTTGAATGATGTTGTTTAATATAAAATGCTTTTATTTTTGATGGAAAGGCAATCAAAGCCTAAAGTTTCCAAGGAACGTAAAATAACTGT
GCTTCTCTGAGAATGCCCGCCTCACAAGTGGAACATTTTGAGTTAATAATGATGATTTTTATGTTTCTAAGGTTGCTTCCTCTCTGAAAT

>6348_6348_5_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375736_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=514AA_BP=399
MGQRARSRPSGAARQRRPLCWERGPWASLGLVRGVPAAGHGAQRLCSVLQVYPEPRSESECLSNIREFLRGCGASLRLETFDANDLYQGQ
NFNKVLSSLVTLNKVTADIGLGSDSVCARPSSHRIKSFDSLGSQSLHTRTSKLFQGQYRSLDMTDNSNNQLVVRAKFNFQQTNEDELSFS
KGDVIHVTRVEEGGWWEGTLNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQTVLST
YLRPLQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLTYCANHPSAVNVLTEHSEELGEFM
ETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEKLTAYLDLNLDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIHEH

--------------------------------------------------------------
>6348_6348_6_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375737_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=2458nt_BP=1010nt
CACATCCTGTTATTCTGGGTTTTGTGACTTGCTGCCTTGCCACTATGAAGACGTTTGATGCAAATGATTTGTATCAGGGGCAGAATTTTA
ACAAGGTCCTCAGTTCCTTAGTGACTCTAAATAAAGTAACAGCAGACATCGGGCTGGGGAGTGACTCCGTGTGTGCCCGGCCCTCGTCTC
ACCGCATAAAGTCTTTTGACTCCCTTGGATCACAGTCTTTGCACACTCGGACTTCAAAACTGTTCCAGGGCCAGTATCGGAGTTTGGACA
TGACCGATAATAGCAACAATCAACTGGTAGTAAGAGCAAAGTTTAACTTCCAGCAGACCAATGAGGACGAGCTTTCCTTCTCAAAAGGAG
ACGTCATCCATGTCACCCGTGTGGAAGAGGGAGGCTGGTGGGAGGGCACACTCAACGGCCGGACCGGCTGGTTCCCCAGCAACTACGTGC
GCGAGGTCAAGGCCAGCGAGAAGCCTGTGTCTCCCAAATCAGGAACACTGAAGAGCCCTCCCAAAGGATTTGATACGACTGCCATAAACA
AAAGCTATTACAATGTGGTGCTACAGAATATTTTAGAAACAGAAAATGAATATTCTAAAGAACTTCAGACTGTGCTTTCAACGTACCTAC
GGCCATTGCAGACCAGTGAGAAGTTAAGTTCAGCAAACATTTCATATTTAATGGGAAATCTAGAAGAAATATGTTCTTTCCAGCAAATGC
TCGTACAGTCTTTAGAAGAATGCACCAAGTTGCCCGAAGCTCAGCAGAGAGTCGGAGGCTGCTTTTTAAACCTGATGCCACAGATGAAAA
CCCTGTACCTCACGTATTGTGCCAATCACCCTTCTGCAGTGAATGTCCTCACGGAACACAGTGAGGAGTTGGGGGAGTTCATGGAGACCA
AAGGTGCCAGCAGCCCTGGGATTCTCGTGCTGACCACGGGCCTGAGCAAACCCTTCATGCGCCTGGATAAATACCCTACGCTGCTCAAAG
AGCTCGAGAGACACATGGAGAAACTTACAGCCTATTTAGATCTTAACCTGGATAAGTGCTATGTGATCCCTCTGAACACTTCCATTGTTA
TGCCACCCAGAAACCTACTGGAGTTACTTATTAACATCAAGGCTGGAACCTATTTGCCTCAGTCCTATCTGATTCATGAGCACATGGTTA
TTACTGATCGCATTGAAAACATTGATCACCTGGGTTTCTTTATTTATCGACTGTGTCATGACAAGGAAACTTACAAACTGCAACGCAGAG
AAACTATTAAAGGTATTCAGAAACGTGAAGCCAGCAATTGTTTCGCAATTCGGCATTTTGAAAACAAATTTGCCGTGGAAACTTTAATTT
GTTCTTGAACAGTCAAGAAAAACATTATTGAGGAAAATTAATATCACAGCATAACCCCACCCTTTACATTTTGTGCAGTGATTATTTTTT
AAAGTCTTCTTTCATGTAAGTAGCAAACAGGGCTTTACTATCTTTTCATCTCATTAATTCAATTAAAACCATTACCTTAAAATTTTTTTC
TTTCGAAGTGTGGTGTCTTTTATATTTGAATTAGTAACTGTATGAAGTCATAGATAATAGTACATGTCACCTTAGGTAGTAGGAAGAATT
ACAATTTCTTTAAATCATTTATCTGGATTTTTATGTTTTATTAGCATTTTCAAGAAGACGGATTATCTAGAGAATAATCATATATATGCA
TACGTAAAAATGGACCACAGTGACTTATTTGTAGTTGTTAGTTGCCCTGCTACCTAGTTTGTTAGTGCATTTGAGCACACATTTTAATTT
TCCTCTAATTAAAATGTGCAGTATTTTCAGTGTCAAATATATTTAACTATTTAGAGAATGATTTCCACCTTTATGTTTTAATATCCTAGG
CATCTGCTGTAATAATATTTTAGAAAATGTTTGGAATTTAAGAAATAACTTGTGTTACTAATTTGTATAACCCATATCTGTGCAATGGAA
TATAAATATCACAAAGTTGTTTAACTAGACTGCGTGTTGTTTTTCCCGTATAATAAAACCAAAGAATAGTTTGGTTCTTCAAATCTTAAG
AGAATCCACATAAAAGAAGAAACTATTTTTTAAAAATTCACTTCTATATATACAATGAGTAAAATCACAGATTTTTTCTTTAAATAAAAA
TAAGTCATTTTAATAACTAAACCAGATTCTTTGTGGATACTATTAAAGTAACATTTAAGCCTCAACCTTGAATGATGTTGTTTAATATAA
AATGCTTTTATTTTTGATGGAAAGGCAATCAAAGCCTAAAGTTTCCAAGGAACGTAAAATAACTGTGCTTCTCTGAGAATGCCCGCCTCA
CAAGTGGAACATTTTGAGTTAATAATGATGATTTTTATGTTTCTAAGGTTGCTTCCTCTCTGAAATAATTCAGAATCCACCCCCATTTAA

>6348_6348_6_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375737_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=447AA_BP=332
MGFVTCCLATMKTFDANDLYQGQNFNKVLSSLVTLNKVTADIGLGSDSVCARPSSHRIKSFDSLGSQSLHTRTSKLFQGQYRSLDMTDNS
NNQLVVRAKFNFQQTNEDELSFSKGDVIHVTRVEEGGWWEGTLNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYN
VVLQNILETENEYSKELQTVLSTYLRPLQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLT
YCANHPSAVNVLTEHSEELGEFMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEKLTAYLDLNLDKCYVIPLNTSIVMPPRN

--------------------------------------------------------------
>6348_6348_7_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375739_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=2823nt_BP=1375nt
GCGGCCGAGGCCGGGGGGCGGCGGCGGGCGCCCGCAGGTTCCCGAGCCGCTCCTGAGAAGGCGCCTGACAGCGGGCCGGGGCGCACGGAG
AAGCGGGCCGGGCCGGACCTGCTGGGCCGCGCCGAGCCAATCGCCGGCGCCGGCCGCTCGATGGGCGAGGCGGCGGCGGCGGCGGCGGGG
GCCGCGGGCCGGGCCGCCGCTCCGAGGTGAAGGCGCGCGCCCCTCCCCGCCTGCCTCCCGGGCCGCAGCGATGAATTCCGCCGAGCAAAC
CGTTACGTGGCTCATCACTCTGGGGGTGCTGGAGTCGCCCAAAAAAACCATCTCGGACCCGGAGGGCTTTCTGCAGGCGTCGCTGAAGGA
TGGGGTGGTCCTCTGCAGGCTGCTGGAGCGCCTGCTCCCCGGGACCATCGAGAAAACGTTTGATGCAAATGATTTGTATCAGGGGCAGAA
TTTTAACAAGGTCCTCAGTTCCTTAGTGACTCTAAATAAAGTAACAGCAGACATCGGGCTGGGGAGTGACTCCGTGTGTGCCCGGCCCTC
GTCTCACCGCATAAAGTCTTTTGACTCCCTTGGATCACAGTCTTTGCACACTCGGACTTCAAAACTGTTCCAGGGCCAGTATCGGAGTTT
GGACATGACCGATAATAGCAACAATCAACTGGTAGTAAGAGCAAAGTTTAACTTCCAGCAGACCAATGAGGACGAGCTTTCCTTCTCAAA
AGGAGACGTCATCCATGTCACCCGTGTGGAAGAGGGAGGCTGGTGGGAGGGCACACTCAACGGCCGGACCGGCTGGTTCCCCAGCAACTA
CGTGCGCGAGGTCAAGGCCAGCGAGAAGCCTGTGTCTCCCAAATCAGGAACACTGAAGAGCCCTCCCAAAGGATTTGATACGACTGCCAT
AAACAAAAGCTATTACAATGTGGTGCTACAGAATATTTTAGAAACAGAAAATGAATATTCTAAAGAACTTCAGACTGTGCTTTCAACGTA
CCTACGGCCATTGCAGACCAGTGAGAAGTTAAGTTCAGCAAACATTTCATATTTAATGGGAAATCTAGAAGAAATATGTTCTTTCCAGCA
AATGCTCGTACAGTCTTTAGAAGAATGCACCAAGTTGCCCGAAGCTCAGCAGAGAGTCGGAGGCTGCTTTTTAAACCTGATGCCACAGAT
GAAAACCCTGTACCTCACGTATTGTGCCAATCACCCTTCTGCAGTGAATGTCCTCACGGAACACAGTGAGGAGTTGGGGGAGTTCATGGA
GACCAAAGGTGCCAGCAGCCCTGGGATTCTCGTGCTGACCACGGGCCTGAGCAAACCCTTCATGCGCCTGGATAAATACCCTACGCTGCT
CAAAGAGCTCGAGAGACACATGGAGAAACTTACAGCCTATTTAGATCTTAACCTGGATAAGTGCTATGTGATCCCTCTGAACACTTCCAT
TGTTATGCCACCCAGAAACCTACTGGAGTTACTTATTAACATCAAGGCTGGAACCTATTTGCCTCAGTCCTATCTGATTCATGAGCACAT
GGTTATTACTGATCGCATTGAAAACATTGATCACCTGGGTTTCTTTATTTATCGACTGTGTCATGACAAGGAAACTTACAAACTGCAACG
CAGAGAAACTATTAAAGGTATTCAGAAACGTGAAGCCAGCAATTGTTTCGCAATTCGGCATTTTGAAAACAAATTTGCCGTGGAAACTTT
AATTTGTTCTTGAACAGTCAAGAAAAACATTATTGAGGAAAATTAATATCACAGCATAACCCCACCCTTTACATTTTGTGCAGTGATTAT
TTTTTAAAGTCTTCTTTCATGTAAGTAGCAAACAGGGCTTTACTATCTTTTCATCTCATTAATTCAATTAAAACCATTACCTTAAAATTT
TTTTCTTTCGAAGTGTGGTGTCTTTTATATTTGAATTAGTAACTGTATGAAGTCATAGATAATAGTACATGTCACCTTAGGTAGTAGGAA
GAATTACAATTTCTTTAAATCATTTATCTGGATTTTTATGTTTTATTAGCATTTTCAAGAAGACGGATTATCTAGAGAATAATCATATAT
ATGCATACGTAAAAATGGACCACAGTGACTTATTTGTAGTTGTTAGTTGCCCTGCTACCTAGTTTGTTAGTGCATTTGAGCACACATTTT
AATTTTCCTCTAATTAAAATGTGCAGTATTTTCAGTGTCAAATATATTTAACTATTTAGAGAATGATTTCCACCTTTATGTTTTAATATC
CTAGGCATCTGCTGTAATAATATTTTAGAAAATGTTTGGAATTTAAGAAATAACTTGTGTTACTAATTTGTATAACCCATATCTGTGCAA
TGGAATATAAATATCACAAAGTTGTTTAACTAGACTGCGTGTTGTTTTTCCCGTATAATAAAACCAAAGAATAGTTTGGTTCTTCAAATC
TTAAGAGAATCCACATAAAAGAAGAAACTATTTTTTAAAAATTCACTTCTATATATACAATGAGTAAAATCACAGATTTTTTCTTTAAAT
AAAAATAAGTCATTTTAATAACTAAACCAGATTCTTTGTGGATACTATTAAAGTAACATTTAAGCCTCAACCTTGAATGATGTTGTTTAA
TATAAAATGCTTTTATTTTTGATGGAAAGGCAATCAAAGCCTAAAGTTTCCAAGGAACGTAAAATAACTGTGCTTCTCTGAGAATGCCCG
CCTCACAAGTGGAACATTTTGAGTTAATAATGATGATTTTTATGTTTCTAAGGTTGCTTCCTCTCTGAAATAATTCAGAATCCACCCCCA

>6348_6348_7_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375739_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=556AA_BP=441
MRRRLTAGRGARRSGPGRTCWAAPSQSPAPAARWARRRRRRRGPRAGPPLRGEGARPSPPASRAAAMNSAEQTVTWLITLGVLESPKKTI
SDPEGFLQASLKDGVVLCRLLERLLPGTIEKTFDANDLYQGQNFNKVLSSLVTLNKVTADIGLGSDSVCARPSSHRIKSFDSLGSQSLHT
RTSKLFQGQYRSLDMTDNSNNQLVVRAKFNFQQTNEDELSFSKGDVIHVTRVEEGGWWEGTLNGRTGWFPSNYVREVKASEKPVSPKSGT
LKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQTVLSTYLRPLQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQ
RVGGCFLNLMPQMKTLYLTYCANHPSAVNVLTEHSEELGEFMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEKLTAYLDLN
LDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIHEHMVITDRIENIDHLGFFIYRLCHDKETYKLQRRETIKGIQKREASNCFA

--------------------------------------------------------------
>6348_6348_8_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375741_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=2973nt_BP=1525nt
GCGGCCGAGGCCGGGGGGCGGCGGCGGGCGCCCGCAGGTTCCCGAGCCGCTCCTGAGAAGGCGCCTGACAGCGGGCCGGGGCGCACGGAG
AAGCGGGCCGGGCCGGACCTGCTGGGCCGCGCCGAGCCAATCGCCGGCGCCGGCCGCTCGATGGGCGAGGCGGCGGCGGCGGCGGCGGGG
GCCGCGGGCCGGGCCGCCGCTCCGAGGTGAAGGCGCGCGCCCCTCCCCGCCTGCCTCCCGGGCCGCAGCGATGAATTCCGCCGAGCAAAC
CGTTACGTGGCTCATCACTCTGGGGGTGCTGGAGTCGCCCAAAAAAACCATCTCGGACCCGGAGGGCTTTCTGCAGGCGTCGCTGAAGGA
TGGGGTGGTCCTCTGCAGGCTGCTGGAGCGCCTGCTCCCCGGGACCATCGAGAAAGTCTACCCCGAGCCCCGGAGCGAGAGCGAGTGCCT
GAGCAACATCCGCGAGTTCCTGCGCGGCTGCGGGGCTTCCCTGCGGCTGGAGCTCCTGTTTCCTCCTTCCCAGCCTCCTCAGCATCTGGT
AACCACCATTCTCTTGTCTGCTTCTACGTTTGATGCAAATGATTTGTATCAGGGGCAGAATTTTAACAAGGTCCTCAGTTCCTTAGTGAC
TCTAAATAAAGTAACAGCAGACATCGGGCTGGGGAGTGACTCCGTGTGTGCCCGGCCCTCGTCTCACCGCATAAAGTCTTTTGACTCCCT
TGGATCACAGTCTTTGCACACTCGGACTTCAAAACTGTTCCAGGGCCAGTATCGGAGTTTGGACATGACCGATAATAGCAACAATCAACT
GGTAGTAAGAGCAAAGTTTAACTTCCAGCAGACCAATGAGGACGAGCTTTCCTTCTCAAAAGGAGACGTCATCCATGTCACCCGTGTGGA
AGAGGGAGGCTGGTGGGAGGGCACACTCAACGGCCGGACCGGCTGGTTCCCCAGCAACTACGTGCGCGAGGTCAAGGCCAGCGAGAAGCC
TGTGTCTCCCAAATCAGGAACACTGAAGAGCCCTCCCAAAGGATTTGATACGACTGCCATAAACAAAAGCTATTACAATGTGGTGCTACA
GAATATTTTAGAAACAGAAAATGAATATTCTAAAGAACTTCAGACTGTGCTTTCAACGTACCTACGGCCATTGCAGACCAGTGAGAAGTT
AAGTTCAGCAAACATTTCATATTTAATGGGAAATCTAGAAGAAATATGTTCTTTCCAGCAAATGCTCGTACAGTCTTTAGAAGAATGCAC
CAAGTTGCCCGAAGCTCAGCAGAGAGTCGGAGGCTGCTTTTTAAACCTGATGCCACAGATGAAAACCCTGTACCTCACGTATTGTGCCAA
TCACCCTTCTGCAGTGAATGTCCTCACGGAACACAGTGAGGAGTTGGGGGAGTTCATGGAGACCAAAGGTGCCAGCAGCCCTGGGATTCT
CGTGCTGACCACGGGCCTGAGCAAACCCTTCATGCGCCTGGATAAATACCCTACGCTGCTCAAAGAGCTCGAGAGACACATGGAGAAACT
TACAGCCTATTTAGATCTTAACCTGGATAAGTGCTATGTGATCCCTCTGAACACTTCCATTGTTATGCCACCCAGAAACCTACTGGAGTT
ACTTATTAACATCAAGGCTGGAACCTATTTGCCTCAGTCCTATCTGATTCATGAGCACATGGTTATTACTGATCGCATTGAAAACATTGA
TCACCTGGGTTTCTTTATTTATCGACTGTGTCATGACAAGGAAACTTACAAACTGCAACGCAGAGAAACTATTAAAGGTATTCAGAAACG
TGAAGCCAGCAATTGTTTCGCAATTCGGCATTTTGAAAACAAATTTGCCGTGGAAACTTTAATTTGTTCTTGAACAGTCAAGAAAAACAT
TATTGAGGAAAATTAATATCACAGCATAACCCCACCCTTTACATTTTGTGCAGTGATTATTTTTTAAAGTCTTCTTTCATGTAAGTAGCA
AACAGGGCTTTACTATCTTTTCATCTCATTAATTCAATTAAAACCATTACCTTAAAATTTTTTTCTTTCGAAGTGTGGTGTCTTTTATAT
TTGAATTAGTAACTGTATGAAGTCATAGATAATAGTACATGTCACCTTAGGTAGTAGGAAGAATTACAATTTCTTTAAATCATTTATCTG
GATTTTTATGTTTTATTAGCATTTTCAAGAAGACGGATTATCTAGAGAATAATCATATATATGCATACGTAAAAATGGACCACAGTGACT
TATTTGTAGTTGTTAGTTGCCCTGCTACCTAGTTTGTTAGTGCATTTGAGCACACATTTTAATTTTCCTCTAATTAAAATGTGCAGTATT
TTCAGTGTCAAATATATTTAACTATTTAGAGAATGATTTCCACCTTTATGTTTTAATATCCTAGGCATCTGCTGTAATAATATTTTAGAA
AATGTTTGGAATTTAAGAAATAACTTGTGTTACTAATTTGTATAACCCATATCTGTGCAATGGAATATAAATATCACAAAGTTGTTTAAC
TAGACTGCGTGTTGTTTTTCCCGTATAATAAAACCAAAGAATAGTTTGGTTCTTCAAATCTTAAGAGAATCCACATAAAAGAAGAAACTA
TTTTTTAAAAATTCACTTCTATATATACAATGAGTAAAATCACAGATTTTTTCTTTAAATAAAAATAAGTCATTTTAATAACTAAACCAG
ATTCTTTGTGGATACTATTAAAGTAACATTTAAGCCTCAACCTTGAATGATGTTGTTTAATATAAAATGCTTTTATTTTTGATGGAAAGG
CAATCAAAGCCTAAAGTTTCCAAGGAACGTAAAATAACTGTGCTTCTCTGAGAATGCCCGCCTCACAAGTGGAACATTTTGAGTTAATAA
TGATGATTTTTATGTTTCTAAGGTTGCTTCCTCTCTGAAATAATTCAGAATCCACCCCCATTTAATAAAATACCTATGATTCATTTCACC

>6348_6348_8_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000375741_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=606AA_BP=491
MRRRLTAGRGARRSGPGRTCWAAPSQSPAPAARWARRRRRRRGPRAGPPLRGEGARPSPPASRAAAMNSAEQTVTWLITLGVLESPKKTI
SDPEGFLQASLKDGVVLCRLLERLLPGTIEKVYPEPRSESECLSNIREFLRGCGASLRLELLFPPSQPPQHLVTTILLSASTFDANDLYQ
GQNFNKVLSSLVTLNKVTADIGLGSDSVCARPSSHRIKSFDSLGSQSLHTRTSKLFQGQYRSLDMTDNSNNQLVVRAKFNFQQTNEDELS
FSKGDVIHVTRVEEGGWWEGTLNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQTVL
STYLRPLQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLTYCANHPSAVNVLTEHSEELGE
FMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEKLTAYLDLNLDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIH

--------------------------------------------------------------
>6348_6348_9_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000426073_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=2545nt_BP=1097nt
GATGGTGGAAAGTGAGGAGAAGCAAAAAGACGACTACTTCTTTCCCCATTTCCCGGTCTGGTCTTTTTGGGGTCTACTACGTAGAGGTGC
ATCAGCCAGCGCTACCATGGAGGCAGGAGGCATTCTTTTGCTCTCGTACGTTTGATGCAAATGATTTGTATCAGGGGCAGAATTTTAACA
AGGTCCTCAGTTCCTTAGTGACTCTAAATAAAGTAACAGCAGACATCGGGCTGGGGAGTGACTCCGTGTGTGCCCGGCCCTCGTCTCACC
GCATAAAGTCTTTTGACTCCCTTGGATCACAGTCTTTGCACACTCGGACTTCAAAACTGTTCCAGGGCCAGTATCGGAGTTTGGACATGA
CCGATAATAGCAACAATCAACTGGTAGTAAGAGCAAAGTTTAACTTCCAGCAGACCAATGAGGACGAGCTTTCCTTCTCAAAAGGAGACG
TCATCCATGTCACCCGTGTGGAAGAGGGAGGCTGGTGGGAGGGCACACTCAACGGCCGGACCGGCTGGTTCCCCAGCAACTACGTGCGCG
AGGTCAAGGCCAGCGAGAAGCCTGTGTCTCCCAAATCAGGAACACTGAAGAGCCCTCCCAAAGGATTTGATACGACTGCCATAAACAAAA
GCTATTACAATGTGGTGCTACAGAATATTTTAGAAACAGAAAATGAATATTCTAAAGAACTTCAGACTGTGCTTTCAACGTACCTACGGC
CATTGCAGACCAGTGAGAAGTTAAGTTCAGCAAACATTTCATATTTAATGGGAAATCTAGAAGAAATATGTTCTTTCCAGCAAATGCTCG
TACAGTCTTTAGAAGAATGCACCAAGTTGCCCGAAGCTCAGCAGAGAGTCGGAGGCTGCTTTTTAAACCTGATGCCACAGATGAAAACCC
TGTACCTCACGTATTGTGCCAATCACCCTTCTGCAGTGAATGTCCTCACGGAACACAGTGAGGAGTTGGGGGAGTTCATGGAGACCAAAG
GTGCCAGCAGCCCTGGGATTCTCGTGCTGACCACGGGCCTGAGCAAACCCTTCATGCGCCTGGATAAATACCCTACGCTGCTCAAAGAGC
TCGAGAGACACATGGAGAAACTTACAGCCTATTTAGATCTTAACCTGGATAAGTGCTATGTGATCCCTCTGAACACTTCCATTGTTATGC
CACCCAGAAACCTACTGGAGTTACTTATTAACATCAAGGCTGGAACCTATTTGCCTCAGTCCTATCTGATTCATGAGCACATGGTTATTA
CTGATCGCATTGAAAACATTGATCACCTGGGTTTCTTTATTTATCGACTGTGTCATGACAAGGAAACTTACAAACTGCAACGCAGAGAAA
CTATTAAAGGTATTCAGAAACGTGAAGCCAGCAATTGTTTCGCAATTCGGCATTTTGAAAACAAATTTGCCGTGGAAACTTTAATTTGTT
CTTGAACAGTCAAGAAAAACATTATTGAGGAAAATTAATATCACAGCATAACCCCACCCTTTACATTTTGTGCAGTGATTATTTTTTAAA
GTCTTCTTTCATGTAAGTAGCAAACAGGGCTTTACTATCTTTTCATCTCATTAATTCAATTAAAACCATTACCTTAAAATTTTTTTCTTT
CGAAGTGTGGTGTCTTTTATATTTGAATTAGTAACTGTATGAAGTCATAGATAATAGTACATGTCACCTTAGGTAGTAGGAAGAATTACA
ATTTCTTTAAATCATTTATCTGGATTTTTATGTTTTATTAGCATTTTCAAGAAGACGGATTATCTAGAGAATAATCATATATATGCATAC
GTAAAAATGGACCACAGTGACTTATTTGTAGTTGTTAGTTGCCCTGCTACCTAGTTTGTTAGTGCATTTGAGCACACATTTTAATTTTCC
TCTAATTAAAATGTGCAGTATTTTCAGTGTCAAATATATTTAACTATTTAGAGAATGATTTCCACCTTTATGTTTTAATATCCTAGGCAT
CTGCTGTAATAATATTTTAGAAAATGTTTGGAATTTAAGAAATAACTTGTGTTACTAATTTGTATAACCCATATCTGTGCAATGGAATAT
AAATATCACAAAGTTGTTTAACTAGACTGCGTGTTGTTTTTCCCGTATAATAAAACCAAAGAATAGTTTGGTTCTTCAAATCTTAAGAGA
ATCCACATAAAAGAAGAAACTATTTTTTAAAAATTCACTTCTATATATACAATGAGTAAAATCACAGATTTTTTCTTTAAATAAAAATAA
GTCATTTTAATAACTAAACCAGATTCTTTGTGGATACTATTAAAGTAACATTTAAGCCTCAACCTTGAATGATGTTGTTTAATATAAAAT
GCTTTTATTTTTGATGGAAAGGCAATCAAAGCCTAAAGTTTCCAAGGAACGTAAAATAACTGTGCTTCTCTGAGAATGCCCGCCTCACAA
GTGGAACATTTTGAGTTAATAATGATGATTTTTATGTTTCTAAGGTTGCTTCCTCTCTGAAATAATTCAGAATCCACCCCCATTTAATAA

>6348_6348_9_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000426073_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=429AA_BP=314
MYQGQNFNKVLSSLVTLNKVTADIGLGSDSVCARPSSHRIKSFDSLGSQSLHTRTSKLFQGQYRSLDMTDNSNNQLVVRAKFNFQQTNED
ELSFSKGDVIHVTRVEEGGWWEGTLNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQ
TVLSTYLRPLQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLTYCANHPSAVNVLTEHSEE
LGEFMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEKLTAYLDLNLDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSY

--------------------------------------------------------------
>6348_6348_10_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000478679_ITM2B_chr13_48832261_ENST00000378565_length(transcript)=2018nt_BP=570nt
CTGCGTCCTCTGGGTTCCCAGCGTTGGTGGGATGGAGCTGTGGCGTCCAGGCTGTGAGGTCTCATGGGGTCCTGCAGCAGCCAGAGCGTG
CAGAAGACGAGGAGGGGAAGAAAGGTGGTGCTACAGAATATTTTAGAAACAGAAAATGAATATTCTAAAGAACTTCAGACTGTGCTTTCA
ACGTACCTACGGCCATTGCAGACCAGTGAGAAGTTAAGTTCAGCAAACATTTCATATTTAATGGGAAATCTAGAAGAAATATGTTCTTTC
CAGCAAATGCTCGTACAGTCTTTAGAAGAATGCACCAAGTTGCCCGAAGCTCAGCAGAGAGTCGGAGGCTGCTTTTTAAACCTGATGCCA
CAGATGAAAACCCTGTACCTCACGTATTGTGCCAATCACCCTTCTGCAGTGAATGTCCTCACGGAACACAGTGAGGAGTTGGGGGAGTTC
ATGGAGACCAAAGGTGCCAGCAGCCCTGGGATTCTCGTGCTGACCACGGGCCTGAGCAAACCCTTCATGCGCCTGGATAAATACCCTACG
CTGCTCAAAGAGCTCGAGAGACACATGGAGAAACTTACAGCCTATTTAGATCTTAACCTGGATAAGTGCTATGTGATCCCTCTGAACACT
TCCATTGTTATGCCACCCAGAAACCTACTGGAGTTACTTATTAACATCAAGGCTGGAACCTATTTGCCTCAGTCCTATCTGATTCATGAG
CACATGGTTATTACTGATCGCATTGAAAACATTGATCACCTGGGTTTCTTTATTTATCGACTGTGTCATGACAAGGAAACTTACAAACTG
CAACGCAGAGAAACTATTAAAGGTATTCAGAAACGTGAAGCCAGCAATTGTTTCGCAATTCGGCATTTTGAAAACAAATTTGCCGTGGAA
ACTTTAATTTGTTCTTGAACAGTCAAGAAAAACATTATTGAGGAAAATTAATATCACAGCATAACCCCACCCTTTACATTTTGTGCAGTG
ATTATTTTTTAAAGTCTTCTTTCATGTAAGTAGCAAACAGGGCTTTACTATCTTTTCATCTCATTAATTCAATTAAAACCATTACCTTAA
AATTTTTTTCTTTCGAAGTGTGGTGTCTTTTATATTTGAATTAGTAACTGTATGAAGTCATAGATAATAGTACATGTCACCTTAGGTAGT
AGGAAGAATTACAATTTCTTTAAATCATTTATCTGGATTTTTATGTTTTATTAGCATTTTCAAGAAGACGGATTATCTAGAGAATAATCA
TATATATGCATACGTAAAAATGGACCACAGTGACTTATTTGTAGTTGTTAGTTGCCCTGCTACCTAGTTTGTTAGTGCATTTGAGCACAC
ATTTTAATTTTCCTCTAATTAAAATGTGCAGTATTTTCAGTGTCAAATATATTTAACTATTTAGAGAATGATTTCCACCTTTATGTTTTA
ATATCCTAGGCATCTGCTGTAATAATATTTTAGAAAATGTTTGGAATTTAAGAAATAACTTGTGTTACTAATTTGTATAACCCATATCTG
TGCAATGGAATATAAATATCACAAAGTTGTTTAACTAGACTGCGTGTTGTTTTTCCCGTATAATAAAACCAAAGAATAGTTTGGTTCTTC
AAATCTTAAGAGAATCCACATAAAAGAAGAAACTATTTTTTAAAAATTCACTTCTATATATACAATGAGTAAAATCACAGATTTTTTCTT
TAAATAAAAATAAGTCATTTTAATAACTAAACCAGATTCTTTGTGGATACTATTAAAGTAACATTTAAGCCTCAACCTTGAATGATGTTG
TTTAATATAAAATGCTTTTATTTTTGATGGAAAGGCAATCAAAGCCTAAAGTTTCCAAGGAACGTAAAATAACTGTGCTTCTCTGAGAAT
GCCCGCCTCACAAGTGGAACATTTTGAGTTAATAATGATGATTTTTATGTTTCTAAGGTTGCTTCCTCTCTGAAATAATTCAGAATCCAC

>6348_6348_10_ARHGEF7-ITM2B_ARHGEF7_chr13_111926299_ENST00000478679_ITM2B_chr13_48832261_ENST00000378565_length(amino acids)=284AA_BP=169
MGSCSSQSVQKTRRGRKVVLQNILETENEYSKELQTVLSTYLRPLQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRV
GGCFLNLMPQMKTLYLTYCANHPSAVNVLTEHSEELGEFMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEKLTAYLDLNLD
KCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIHEHMVITDRIENIDHLGFFIYRLCHDKETYKLQRRETIKGIQKREASNCFAIR

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

Top

Fusion Gene PPI Analysis for ARHGEF7-ITM2B

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 ARHGEF7-ITM2B

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 ARHGEF7-ITM2B

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene		C1867773	CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	2	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene		C0020538	Hypertensive disease	1	CTD_human
Tgene		C0038454	Cerebrovascular accident	1	GENOMICS_ENGLAND
Tgene		C0270790	Quadriparesis	1	GENOMICS_ENGLAND
Tgene		C0553692	Brain hemorrhage	1	GENOMICS_ENGLAND
Tgene		C0575059	Spastic tetraparesis	1	GENOMICS_ENGLAND
Tgene		C0948008	Ischemic stroke	1	GENOMICS_ENGLAND
Tgene		C1861735	Dementia, familial Danish	1	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene		C4015146	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES	1	CTD_human;ORPHANET;UNIPROT

Fusion Gene Studies in Kim Lab

Fusion gene:ARHGEF7-ITM2B (FusionGDB2 ID:HG8874TG9445)

Fusion Gene Summary for ARHGEF7-ITM2B

Fusion Gene ORF analysis for ARHGEF7-ITM2B

Fusion Genomic Features for ARHGEF7-ITM2B

Fusion Protein Features for ARHGEF7-ITM2B

Fusion Gene Sequence for ARHGEF7-ITM2B

Fusion Gene PPI Analysis for ARHGEF7-ITM2B

Related Drugs for ARHGEF7-ITM2B

Related Diseases for ARHGEF7-ITM2B

Fusion Gene Studies
in Kim Lab