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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:CREBBP-SH2D3C (FusionGDB2 ID:HG1387TG10044)

Fusion Gene Summary for CREBBP-SH2D3C

Fusion gene summary

Fusion gene information	Fusion gene name: CREBBP-SH2D3C
	Fusion gene ID: hg1387tg10044
		Hgene	Tgene
	Gene symbol	CREBBP	SH2D3C
	Gene ID	1387	10044
	Gene name	CREB binding protein	SH2 domain containing 3C
	Synonyms	CBP\|KAT3A\|MKHK1\|RSTS\|RSTS1	CHAT\|NSP3\|PRO34088\|SHEP1
	Cytomap	('CREBBP')('SH2D3C') 16p13.3	9q34.11
	Type of gene	protein-coding	protein-coding
	Description	CREB-binding proteinhistone lysine acetyltransferase CREBBPprotein-lysine acetyltransferase CREBBP	SH2 domain-containing protein 3CSH2 domain-containing Eph receptor-binding protein 1novel SH2-containing protein 3
	Modification date	20200329	20200313
	UniProtAcc	Q92793	.
	Ensembl transtripts involved in fusion gene	ENST00000262367, ENST00000382070,
Fusion gene scores	* DoF score	43 X 38 X 17=27778	5 X 5 X 4=100
	# samples	61	5
	** MAII score	log2(61/27778*10)=-5.50898967694577 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CREBBP [Title/Abstract] AND SH2D3C [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CREBBP(3799628)-SH2D3C(130523929), # samples:1
Anticipated loss of major functional domain due to fusion event.	CREBBP-SH2D3C 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. CREBBP-SH2D3C 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. CREBBP-SH2D3C 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. CREBBP-SH2D3C 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	CREBBP	GO:0000122	negative regulation of transcription by RNA polymerase II	21539536
Hgene	CREBBP	GO:0006355	regulation of transcription, DNA-templated	12169688
Hgene	CREBBP	GO:0006473	protein acetylation	15273251\|24207024\|24939902\|28790157\|30540930
Hgene	CREBBP	GO:0016573	histone acetylation	11742995
Hgene	CREBBP	GO:0018076	N-terminal peptidyl-lysine acetylation	12435739
Hgene	CREBBP	GO:0034644	cellular response to UV	24939902
Hgene	CREBBP	GO:0045893	positive regulation of transcription, DNA-templated	11742995
Hgene	CREBBP	GO:1990258	histone glutamine methylation	30540930

Fusion gene breakpoints across CREBBP (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 SH2D3C (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	STAD	TCGA-BR-8284-01A	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-

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Fusion Gene ORF analysis for CREBBP-SH2D3C

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
5CDS-5UTR	ENST00000262367	ENST00000314830	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-5UTR	ENST00000262367	ENST00000373276	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-5UTR	ENST00000262367	ENST00000429553	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-5UTR	ENST00000382070	ENST00000314830	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-5UTR	ENST00000382070	ENST00000373276	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-5UTR	ENST00000382070	ENST00000429553	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-intron	ENST00000262367	ENST00000373274	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-intron	ENST00000262367	ENST00000420366	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-intron	ENST00000262367	ENST00000471939	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-intron	ENST00000382070	ENST00000373274	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-intron	ENST00000382070	ENST00000420366	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
5CDS-intron	ENST00000382070	ENST00000471939	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
In-frame	ENST00000262367	ENST00000373277	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-
In-frame	ENST00000382070	ENST00000373277	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-

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)
ENST00000262367	CREBBP	chr16	3799628	-	ENST00000373277	SH2D3C	chr9	130523929	-	7143	4646	606	6713	2035
ENST00000382070	CREBBP	chr16	3799628	-	ENST00000373277	SH2D3C	chr9	130523929	-	6423	3926	0	5993	1997

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
ENST00000262367	ENST00000373277	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-	0.007856893	0.99214315
ENST00000382070	ENST00000373277	CREBBP	chr16	3799628	-	SH2D3C	chr9	130523929	-	0.004561588	0.9954384

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Fusion Genomic Features for CREBBP-SH2D3C

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)

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.

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Fusion Protein Features for CREBBP-SH2D3C

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:3799628/chr9:130523929)
- 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
CREBBP Q92793	.
FUNCTION: Acetylates histones, giving a specific tag for transcriptional activation (PubMed:24616510). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:9707565, PubMed:24207024, PubMed:28790157, PubMed:30540930). Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers (PubMed:14645221). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). Acetylates DDX21, thereby inhibiting DDX21 helicase activity (PubMed:28790157). Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493). {ECO:0000269\|PubMed:10490106, ECO:0000269\|PubMed:11154691, ECO:0000269\|PubMed:12738767, ECO:0000269\|PubMed:12929931, ECO:0000269\|PubMed:14645221, ECO:0000269\|PubMed:24207024, ECO:0000269\|PubMed:24616510, ECO:0000269\|PubMed:24939902, ECO:0000269\|PubMed:25514493, ECO:0000269\|PubMed:28790157, ECO:0000269\|PubMed:30540930, ECO:0000269\|PubMed:9707565}.	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

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1061_1064

1278

2443.0

Compositional bias

Note=Poly-Glu

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1061_1064

1240

2405.0

Compositional bias

Note=Poly-Glu

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1103_1175

1278

2443.0

Domain

Bromo

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

587_666

1278

2443.0

Domain

KIX

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1103_1175

1240

2405.0

Domain

Bromo

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

587_666

1240

2405.0

Domain

KIX

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

347_433

1278

2443.0

Zinc finger

TAZ-type 1

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

347_433

1240

2405.0

Zinc finger

TAZ-type 1

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000314830

220_319

171

861.0

Domain

SH2

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000314830

586_854

171

861.0

Domain

Ras-GEF

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000373274

220_319

701.0

Domain

SH2

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000373274

586_854

701.0

Domain

Ras-GEF

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000373277

220_319

704.0

Domain

SH2

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000373277

586_854

704.0

Domain

Ras-GEF

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000420366

220_319

703.0

Domain

SH2

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000420366

586_854

703.0

Domain

Ras-GEF

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000429553

220_319

507.0

Domain

SH2

Tgene

SH2D3C

chr16:3799628

chr9:130523929

ENST00000429553

586_854

507.0

Domain

Ras-GEF

- 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

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1199_1487

1278

2443.0

Compositional bias

Note=Cys/His-rich

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1555_1562

1278

2443.0

Compositional bias

Note=Poly-Glu

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1943_1948

1278

2443.0

Compositional bias

Note=Poly-Pro

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1967_1970

1278

2443.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

2081_2085

1278

2443.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

2199_2216

1278

2443.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

2245_2248

1278

2443.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

2297_2300

1278

2443.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1199_1487

1240

2405.0

Compositional bias

Note=Cys/His-rich

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1555_1562

1240

2405.0

Compositional bias

Note=Poly-Glu

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1943_1948

1240

2405.0

Compositional bias

Note=Poly-Pro

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1967_1970

1240

2405.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

2081_2085

1240

2405.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

2199_2216

1240

2405.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

2245_2248

1240

2405.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

2297_2300

1240

2405.0

Compositional bias

Note=Poly-Gln

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1323_1700

1278

2443.0

Domain

CBP/p300-type HAT

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1323_1700

1240

2405.0

Domain

CBP/p300-type HAT

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1434_1436

1278

2443.0

Region

Acetyl-CoA binding

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1446_1447

1278

2443.0

Region

Acetyl-CoA binding

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1434_1436

1240

2405.0

Region

Acetyl-CoA binding

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1446_1447

1240

2405.0

Region

Acetyl-CoA binding

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1701_1744

1278

2443.0

Zinc finger

ZZ-type

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000262367

1765_1846

1278

2443.0

Zinc finger

TAZ-type 2

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1701_1744

1240

2405.0

Zinc finger

ZZ-type

Hgene

CREBBP

chr16:3799628

chr9:130523929

ENST00000382070

1765_1846

1240

2405.0

Zinc finger

TAZ-type 2

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Fusion Gene Sequence for CREBBP-SH2D3C

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.

>19381_19381_1_CREBBP-SH2D3C_CREBBP_chr16_3799628_ENST00000262367_SH2D3C_chr9_130523929_ENST00000373277_length(transcript)=7143nt_BP=4646nt
TTCTTTTTTTTTTAATTGAGGAATCAACAGCCGCCATCTTGTCGCGGACCCGACCGGGGCTTCGAGCGCGATCTACTCGGCCCCGCCGGT
CCCGGGCCCCACAACCGCCCGCGCACCCCGCTCCGCCCGGCCGGCCCGCTCCGCCCGGCCCTCGGCGCCCGCCCCGGCGGCCCCGCTCGC
CTCTCGGCTCGGCCTCCCGGAGCCCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGAACGGGGGGTGGGGGGGCCGCGGCGGC
GGCGGCGACCCCGCTCGGCGCATTGTTTTTCCTCACGGCGGCGGCGGCGGCGGGCCGCGGGCCGGGAGCGGAGCCCGGAGCCCCCTCGTC
GTCGGGCCGCGAGCGAATTCATTAAGTGGGGCGCGGGGGGGGAGCGAGGCGGCGGCGGCGGCGGCACCATGTTCTCGGGGACTGCCTGAG
CCGCCCGGCCGGGCGCCGTCGCTGCCAGCCGGGCCCGGGGGGGCGGCCGGGCCGCCGGGGCGCCCCCACCGCGGAGTGTCGCGCTCGGGA
GGCGGGCAGGGGATGAGGGGGCCGCGGCCGGCGGCGGCGGCGGCGGCCGGGGGCGGGCGGTGAGCGCTGCGGGGCGCTGTTGCTGTGGCT
GAGATTTGGCCGCCGCCTCCCCCACCCGGCCTGCGCCCTCCCTCTCCCTCGGCGCCCGCCCGCCCGCTCGCGGCCCGCGCTCGCTCCTCT
CCCTCGCAGCCGGCAGGGCCCCCGACCCCCGTCCGGGCCCTCGCCGGCCCGGCCGCCCGTGCCCGGGGCTGTTTTCGCGAGCAGGTGAAA
ATGGCTGAGAACTTGCTGGACGGACCGCCCAACCCCAAAAGAGCCAAACTCAGCTCGCCCGGTTTCTCGGCGAATGACAGCACAGATTTT
GGATCATTGTTTGACTTGGAAAATGATCTTCCTGATGAGCTGATACCCAATGGAGGAGAATTAGGCCTTTTAAACAGTGGGAACCTTGTT
CCAGATGCTGCTTCCAAACATAAACAACTGTCGGAGCTTCTACGAGGAGGCAGCGGCTCTAGTATCAACCCAGGAATAGGAAATGTGAGC
GCCAGCAGCCCCGTGCAGCAGGGCCTGGGTGGCCAGGCTCAAGGGCAGCCGAACAGTGCTAACATGGCCAGCCTCAGTGCCATGGGCAAG
AGCCCTCTGAGCCAGGGAGATTCTTCAGCCCCCAGCCTGCCTAAACAGGCAGCCAGCACCTCTGGGCCCACCCCCGCTGCCTCCCAAGCA
CTGAATCCGCAAGCACAAAAGCAAGTGGGGCTGGCGACTAGCAGCCCTGCCACGTCACAGACTGGACCTGGTATCTGCATGAATGCTAAC
TTTAACCAGACCCACCCAGGCCTCCTCAATAGTAACTCTGGCCATAGCTTAATTAATCAGGCTTCACAAGGGCAGGCGCAAGTCATGAAT
GGATCTCTTGGGGCTGCTGGCAGAGGAAGGGGAGCTGGAATGCCGTACCCTACTCCAGCCATGCAGGGCGCCTCGAGCAGCGTGCTGGCT
GAGACCCTAACGCAGGTTTCCCCGCAAATGACTGGTCACGCGGGACTGAACACCGCACAGGCAGGAGGCATGGCCAAGATGGGAATAACT
GGGAACACAAGTCCATTTGGACAGCCCTTTAGTCAAGCTGGAGGGCAGCCAATGGGAGCCACTGGAGTGAACCCCCAGTTAGCCAGCAAA
CAGAGCATGGTCAACAGTTTGCCCACCTTCCCTACAGATATCAAGAATACTTCAGTCACCAACGTGCCAAATATGTCTCAGATGCAAACA
TCAGTGGGAATTGTACCCACACAAGCAATTGCAACAGGCCCCACTGCAGATCCTGAAAAACGCAAACTGATACAGCAGCAGCTGGTTCTA
CTGCTTCATGCTCATAAGTGTCAGAGACGAGAGCAAGCAAACGGAGAGGTTCGGGCCTGCTCGCTCCCGCATTGTCGAACCATGAAAAAC
GTTTTGAATCACATGACGCATTGTCAGGCTGGGAAAGCCTGCCAAGTTGCCCATTGTGCATCTTCACGACAAATCATCTCTCATTGGAAG
AACTGCACACGACATGACTGTCCTGTTTGCCTCCCTTTGAAAAATGCCAGTGACAAGCGAAACCAACAAACCATCCTGGGGTCTCCAGCT
AGTGGAATTCAAAACACAATTGGTTCTGTTGGCACAGGGCAACAGAATGCCACTTCTTTAAGTAACCCAAATCCCATAGACCCCAGCTCC
ATGCAGCGAGCCTATGCTGCTCTCGGACTCCCCTACATGAACCAGCCCCAGACGCAGCTGCAGCCTCAGGTTCCTGGCCAGCAACCAGCA
CAGCCTCAAACCCACCAGCAGATGAGGACTCTCAACCCCCTGGGAAATAATCCAATGAACATTCCAGCAGGAGGAATAACAACAGATCAG
CAGCCCCCAAACTTGATTTCAGAATCAGCTCTTCCGACTTCCCTGGGGGCCACAAACCCACTGATGAACGATGGCTCCAACTCTGGTAAC
ATTGGAACCCTCAGCACTATACCAACAGCAGCTCCTCCTTCTAGCACCGGTGTAAGGAAAGGCTGGCACGAACATGTCACTCAGGACCTG
CGGAGCCATCTAGTGCATAAACTCGTCCAAGCCATCTTCCCAACACCTGATCCCGCAGCTCTAAAGGATCGCCGCATGGAAAACCTGGTA
GCCTATGCTAAGAAAGTGGAAGGGGACATGTACGAGTCTGCCAACAGCAGGGATGAATATTATCACTTATTAGCAGAGAAAATCTACAAG
ATACAAAAAGAACTAGAAGAAAAACGGAGGTCGCGTTTACATAAACAAGGCATCTTGGGGAACCAGCCAGCCTTACCAGCCCCGGGGGCT
CAGCCCCCTGTGATTCCACAGGCACAACCTGTGAGACCTCCAAATGGACCCCTGTCCCTGCCAGTGAATCGCATGCAAGTTTCTCAAGGG
ATGAATTCATTTAACCCCATGTCCTTGGGGAACGTCCAGTTGCCACAAGCACCCATGGGACCTCGTGCAGCCTCCCCAATGAACCACTCT
GTCCAGATGAACAGCATGGGCTCAGTGCCAGGGATGGCCATTTCTCCTTCCCGAATGCCTCAGCCTCCGAACATGATGGGTGCACACACC
AACAACATGATGGCCCAGGCGCCCGCTCAGAGCCAGTTTCTGCCACAGAACCAGTTCCCGTCATCCAGCGGGGCGATGAGTGTGGGCATG
GGGCAGCCGCCAGCCCAAACAGGCGTGTCACAGGGACAGGTGCCTGGTGCTGCTCTTCCTAACCCTCTCAACATGCTGGGGCCTCAGGCC
AGCCAGCTACCTTGCCCTCCAGTGACACAGTCACCACTGCACCCAACACCGCCTCCTGCTTCCACGGCTGCTGGCATGCCATCTCTCCAG
CACACGACACCACCTGGGATGACTCCTCCCCAGCCAGCAGCTCCCACTCAGCCATCAACTCCTGTGTCGTCTTCCGGGCAGACTCCCACC
CCGACTCCTGGCTCAGTGCCCAGTGCTACCCAAACCCAGAGCACCCCTACAGTCCAGGCAGCAGCCCAGGCCCAGGTGACCCCGCAGCCT
CAAACCCCAGTTCAGCCCCCGTCTGTGGCTACCCCTCAGTCATCGCAGCAACAGCCGACGCCTGTGCACGCCCAGCCTCCTGGCACACCG
CTTTCCCAGGCAGCAGCCAGCATTGATAACAGAGTCCCTACCCCCTCCTCGGTGGCCAGCGCAGAAACCAATTCCCAGCAGCCAGGACCT
GACGTACCTGTGCTGGAAATGAAGACGGAGACCCAAGCAGAGGACACTGAGCCCGATCCTGGTGAATCCAAAGGGGAGCCCAGGTCTGAG
ATGATGGAGGAGGATTTGCAAGGAGCTTCCCAAGTTAAAGAAGAAACAGACATAGCAGAGCAGAAATCAGAACCAATGGAAGTGGATGAA
AAGAAACCTGAAGTGAAAGTAGAAGTTAAAGAGGAAGAAGAGAGTAGCAGTAACGGCACAGCCTCTCAGTCAACATCTCCTTCGCAGCCG
CGCAAAAAAATCTTTAAACCAGAGGAGTTACGCCAGGCCCTCATGCCAACCCTAGAAGCACTGTATCGACAGGACCCAGAGTCATTACCT
TTCCGGCAGCCTGTAGATCCCCAGCTCCTCGGAATTCCAGACTATTTTGACATCGTAAAGAATCCCATGGACCTCTCCACCATCAAGCGG
AAGCTGGACACAGGGCAATACCAAGAGCCCTGGCAGTACGTGGACGACGTCTGGCTCATGTTCAACAATGCCTGGCTCTATAATCGCAAG
ACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTCATGCAGTCCCTTGGATATTGCTGT
GGACGCAAGTATGAGTTTTCCCCACAGACTTTGTGCTGCTATGGGAAGCAGCTGTGTACCATTCCTCGCGATGCTGCCTACTACAGCTAT
CAGAATAGGTATCATTTCTGTGAGAAGTGTTTCACAGAGATCCAGGGCGAGAATGTGACCCTGGGTGACGACCCTTCACAGCCCCAGACG
ACAATTTCAAAGGATCAGTTTGAAAAGAAGAAAAATGATACCTTAGACCCCGAACCGGCTGCTGGAGAGCCAGAGGCTGGCAGCGACTAT
GTGAAGTTCTCCAAGGAGAAGTACATCCTGGACTCATCGCCAGAGAAACTCCACAAGGAATTGGAGGAGGAGCTCAAACTCAGCAGCACG
GATCTCCGCAGCCATGCCTGGTACCATGGCCGCATCCCCCGAGAGGTCTCGGAGACCTTGGTACAACGCAACGGCGACTTCCTCATCCGG
GACTCACTCACCAGCCTGGGCGACTATGTGCTCACGTGCCGCTGGCGCAACCAGGCCTTGCACTTCAAGATCAACAAGGTGGTGGTGAAG
GCAGGCGAGAGCTACACACACATCCAGTACCTGTTTGAGCAGGAGAGCTTTGACCACGTGCCCGCCCTCGTGCGCTATCATGTGGGCAGC
CGCAAGGCTGTGTCAGAGCAGAGTGGTGCCATCATCTACTGCCCGGTGAACCGCACCTTCCCACTGCGCTACCTCGAGGCCAGCTATGGC
CTGGGACAGGGGAGTAGCAAGCCTGCTAGCCCCGTCAGCCCCTCAGGCCCCAAGGGCAGCCACATGAAGCGGCGCAGCGTCACCATGACC
GATGGGCTCACTGCTGACAAGGTCACCCGCAGCGATGGCTGCCCCACCAGTACGTCGCTGCCCCGCCCTCGGGACTCCATCCGCAGCTGT
GCCCTCAGCATGGACCAGATCCCAGACCTGCACTCACCCATGTCGCCCATCTCCGAGAGCCCTAGCTCCCCTGCCTACAGCACTGTAACC
CGTGTCCATGCCGCCCCTGCAGCCCCTTCTGCCACAGCATTGCCTGCCTCCCCTGTCGCCCGCCGTTCCAGTGAGCCCCAGCTGTGTCCC
GGAAGTGCCCCAAAGACCCATGGGGAGTCAGACAAGGGCCCCCACACCAGCCCCTCCCACACCCTTGGCAAGGCCTCCCCGTCACCATCA
CTCAGCAGCTACAGTGACCCGGACTCTGGCCACTACTGCCAGCTCCAGCCTCCCGTGCGTGGCAGCCGAGAGTGGGCAGCGACTGAGACC
TCCAGCCAGCAGGCCAGGAGCTATGGGGAGAGGCTAAAGGAACTGTCAGAAAATGGGGCCCCTGAAGGGGACTGGGGCAAGACCTTCACA
GTCCCCATCGTGGAAGTCACTTCTTCCTTCAACCCGGCCACCTTCCAGTCACTACTGATCCCCAGGGATAACCGGCCACTGGAGGTGGGC
CTTCTGCGCAAGGTCAAGGAGCTGCTGGCAGAAGTGGATGCCCGGACGCTGGCCCGGCATGTCACCAAGGTGGACTGCCTGGTTGCTAGG
ATACTGGGCGTTACCAAGGAGATGCAGACCCTAATGGGAGTCCGCTGGGGCATGGAACTGCTCACCCTCCCCCATGGCCGGCAGCTACGC
CTAGACCTGCTGGAAAGGTTCCACACCATGTCCATCATGCTGGCCGTGGACATCCTGGGCTGCACCGGCTCTGCGGAGGAGCGGGCAGCG
CTGCTGCACAAGACCATTCAGCTGGCGGCCGAGCTGCGGGGGACTATGGGCAACATGTTCAGCTTCGCGGCGGTCATGGGTGCCCTGGAC
ATGGCCCAGATTTCTCGGCTGGAGCAGACATGGGTGACCCTGCGGCAGCGACACACAGAGGGTGCCATCCTGTACGAGAAGAAGCTCAAG
CCTTTTCTCAAGAGCCTCAACGAGGGCAAAGAAGGCCCGCCGCTGAGCAACACCACGTTTCCTCATGTGCTGCCCCTCATCACCCTGCTG
GAGTGTGACTCGGCCCCACCAGAGGGCCCTGAGCCCTGGGGCAGCACGGAGCACGGCGTGGAGGTGGTGCTGGCTCACCTGGAGGCCGCC
CGCACAGTGGCACACCACGGAGGCCTGTACCACACCAATGCTGAAGTCAAGCTGCAGGGGTTCCAGGCCCGGCCGGAGCTCCTGGAGGTG
TTCAGCACGGAGTTCCAGATGCGCCTTCTCTGGGGCAGTCAGGGTGCCAGCAGCAGCCAGGCCCGGCGCTATGAGAAGTTCGACAAGGTC
CTCACTGCCCTGTCCCACAAGCTGGAACCTGCTGTCCGCTCCAGCGAGCTGTGACCCCAGGGACATTTCCCCTCTGCAGCTGCGGACAGC
GTCAGGGGCAGAGGGGCACACAACTTTCCCCAGAGCACCCCAAGGACACTGTGATCAACCCGAGAATGTTCTGGGTTCAACTCAAGCATC
TCCCTTGCACCTCCAGGGTCCTGCGTGGACTCTGGGTTCCATCCCACCTGCTACATGCTCACCAGGTCTCCATTGAGGAAGAACAGGAAC
GCCGGTTCCCCCACCAGCTTTTGCTGCTCCCCTTCCTGCTGGGGTTCCCTGTTTTCGAGCCATGGGAGGCAGGCTGCTCACGCCTCCTCA
CTCTCTGTCTGTCCCTCACCAACACCAAGGCCTCCATCTCACTGTAAATAAGTCTCTGTTCTGTAAATAGATGTACAGAAGCCATGTTAT
TTCTTTCATATAATAAACTTTTATGACTCTTTA

>19381_19381_1_CREBBP-SH2D3C_CREBBP_chr16_3799628_ENST00000262367_SH2D3C_chr9_130523929_ENST00000373277_length(amino acids)=2035AA_BP=1347
MRGAVAVAEIWPPPPPPGLRPPSPSAPARPLAARARSSPSQPAGPPTPVRALAGPAARARGCFREQVKMAENLLDGPPNPKRAKLSSPGF
SANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANM
ASLSAMGKSPLSQGDSSAPSLPKQAASTSGPTPAASQALNPQAQKQVGLATSSPATSQTGPGICMNANFNQTHPGLLNSNSGHSLINQAS
QGQAQVMNGSLGAAGRGRGAGMPYPTPAMQGASSSVLAETLTQVSPQMTGHAGLNTAQAGGMAKMGITGNTSPFGQPFSQAGGQPMGATG
VNPQLASKQSMVNSLPTFPTDIKNTSVTNVPNMSQMQTSVGIVPTQAIATGPTADPEKRKLIQQQLVLLLHAHKCQRREQANGEVRACSL
PHCRTMKNVLNHMTHCQAGKACQVAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQTILGSPASGIQNTIGSVGTGQQNATSLSN
PNPIDPSSMQRAYAALGLPYMNQPQTQLQPQVPGQQPAQPQTHQQMRTLNPLGNNPMNIPAGGITTDQQPPNLISESALPTSLGATNPLM
NDGSNSGNIGTLSTIPTAAPPSSTGVRKGWHEHVTQDLRSHLVHKLVQAIFPTPDPAALKDRRMENLVAYAKKVEGDMYESANSRDEYYH
LLAEKIYKIQKELEEKRRSRLHKQGILGNQPALPAPGAQPPVIPQAQPVRPPNGPLSLPVNRMQVSQGMNSFNPMSLGNVQLPQAPMGPR
AASPMNHSVQMNSMGSVPGMAISPSRMPQPPNMMGAHTNNMMAQAPAQSQFLPQNQFPSSSGAMSVGMGQPPAQTGVSQGQVPGAALPNP
LNMLGPQASQLPCPPVTQSPLHPTPPPASTAAGMPSLQHTTPPGMTPPQPAAPTQPSTPVSSSGQTPTPTPGSVPSATQTQSTPTVQAAA
QAQVTPQPQTPVQPPSVATPQSSQQQPTPVHAQPPGTPLSQAAASIDNRVPTPSSVASAETNSQQPGPDVPVLEMKTETQAEDTEPDPGE
SKGEPRSEMMEEDLQGASQVKEETDIAEQKSEPMEVDEKKPEVKVEVKEEEESSSNGTASQSTSPSQPRKKIFKPEELRQALMPTLEALY
RQDPESLPFRQPVDPQLLGIPDYFDIVKNPMDLSTIKRKLDTGQYQEPWQYVDDVWLMFNNAWLYNRKTSRVYKFCSKLAEVFEQEIDPV
MQSLGYCCGRKYEFSPQTLCCYGKQLCTIPRDAAYYSYQNRYHFCEKCFTEIQGENVTLGDDPSQPQTTISKDQFEKKKNDTLDPEPAAG
EPEAGSDYVKFSKEKYILDSSPEKLHKELEEELKLSSTDLRSHAWYHGRIPREVSETLVQRNGDFLIRDSLTSLGDYVLTCRWRNQALHF
KINKVVVKAGESYTHIQYLFEQESFDHVPALVRYHVGSRKAVSEQSGAIIYCPVNRTFPLRYLEASYGLGQGSSKPASPVSPSGPKGSHM
KRRSVTMTDGLTADKVTRSDGCPTSTSLPRPRDSIRSCALSMDQIPDLHSPMSPISESPSSPAYSTVTRVHAAPAAPSATALPASPVARR
SSEPQLCPGSAPKTHGESDKGPHTSPSHTLGKASPSPSLSSYSDPDSGHYCQLQPPVRGSREWAATETSSQQARSYGERLKELSENGAPE
GDWGKTFTVPIVEVTSSFNPATFQSLLIPRDNRPLEVGLLRKVKELLAEVDARTLARHVTKVDCLVARILGVTKEMQTLMGVRWGMELLT
LPHGRQLRLDLLERFHTMSIMLAVDILGCTGSAEERAALLHKTIQLAAELRGTMGNMFSFAAVMGALDMAQISRLEQTWVTLRQRHTEGA
ILYEKKLKPFLKSLNEGKEGPPLSNTTFPHVLPLITLLECDSAPPEGPEPWGSTEHGVEVVLAHLEAARTVAHHGGLYHTNAEVKLQGFQ
ARPELLEVFSTEFQMRLLWGSQGASSSQARRYEKFDKVLTALSHKLEPAVRSSEL

--------------------------------------------------------------
>19381_19381_2_CREBBP-SH2D3C_CREBBP_chr16_3799628_ENST00000382070_SH2D3C_chr9_130523929_ENST00000373277_length(transcript)=6423nt_BP=3926nt
CTGCGGGGCGCTGTTGCTGTGGCTGAGATTTGGCCGCCGCCTCCCCCACCCGGCCTGCGCCCTCCCTCTCCCTCGGCGCCCGCCCGCCCG
CTCGCGGCCCGCGCTCGCTCCTCTCCCTCGCAGCCGGCAGGGCCCCCGACCCCCGTCCGGGCCCTCGCCGGCCCGGCCGCCCGTGCCCGG
GGCTGTTTTCGCGAGCAGGTGAAAATGGCTGAGAACTTGCTGGACGGACCGCCCAACCCCAAAAGAGCCAAACTCAGCTCGCCCGGTTTC
TCGGCGAATGACAGCACAGATTTTGGATCATTGTTTGACTTGGAAAATGATCTTCCTGATGAGCTGATACCCAATGGAGGAGAATTAGGC
CTTTTAAACAGTGGGAACCTTGTTCCAGATGCTGCTTCCAAACATAAACAACTGTCGGAGCTTCTACGAGGAGGCAGCGGCTCTAGTATC
AACCCAGGAATAGGAAATGTGAGCGCCAGCAGCCCCGTGCAGCAGGGCCTGGGTGGCCAGGCTCAAGGGCAGCCGAACAGTGCTAACATG
GCCAGCCTCAGTGCCATGGGCAAGAGCCCTCTGAGCCAGGGAGATTCTTCAGCCCCCAGCCTGCCTAAACAGGCAGCCAGCACCTCTGGG
CCCACCCCCGCTGCCTCCCAAGCACTGAATCCGCAAGCACAAAAGCAAGTGGGGCTGGCGACTAGCAGCCCTGCCACGTCACAGACTGGA
CCTGGTATCTGCATGAATGCTAACTTTAACCAGACCCACCCAGGCCTCCTCAATAGTAACTCTGGCCATAGCTTAATTAATCAGGCTTCA
CAAGGGCAGGCGCAAGTCATGAATGGATCTCTTGGGGCTGCTGGCAGAGGAAGGGGAGCTGGAATGCCGTACCCTACTCCAGCCATGCAG
GGCGCCTCGAGCAGCGTGCTGGCTGAGACCCTAACGCAGGTTTCCCCGCAAATGACTGGTCACGCGGGACTGAACACCGCACAGGCAGGA
GGCATGGCCAAGATGGGAATAACTGGGAACACAAGTCCATTTGGACAGCCCTTTAGTCAAGCTGGAGGGCAGCCAATGGGAGCCACTGGA
GTGAACCCCCAGTTAGCCAGCAAACAGAGCATGGTCAACAGTTTGCCCACCTTCCCTACAGATATCAAGAATACTTCAGTCACCAACGTG
CCAAATATGTCTCAGATGCAAACATCAGTGGGAATTGTACCCACACAAGCAATTGCAACAGGCCCCACTGCAGATCCTGAAAAACGCAAA
CTGATACAGCAGCAGCTGGTTCTACTGCTTCATGCTCATAAGTGTCAGAGACGAGAGCAAGCAAACGGAGAGGTTCGGGCCTGCTCGCTC
CCGCATTGTCGAACCATGAAAAACGTTTTGAATCACATGACGCATTGTCAGGCTGGGAAAGCCTGCCAAGCCATCCTGGGGTCTCCAGCT
AGTGGAATTCAAAACACAATTGGTTCTGTTGGCACAGGGCAACAGAATGCCACTTCTTTAAGTAACCCAAATCCCATAGACCCCAGCTCC
ATGCAGCGAGCCTATGCTGCTCTCGGACTCCCCTACATGAACCAGCCCCAGACGCAGCTGCAGCCTCAGGTTCCTGGCCAGCAACCAGCA
CAGCCTCAAACCCACCAGCAGATGAGGACTCTCAACCCCCTGGGAAATAATCCAATGAACATTCCAGCAGGAGGAATAACAACAGATCAG
CAGCCCCCAAACTTGATTTCAGAATCAGCTCTTCCGACTTCCCTGGGGGCCACAAACCCACTGATGAACGATGGCTCCAACTCTGGTAAC
ATTGGAACCCTCAGCACTATACCAACAGCAGCTCCTCCTTCTAGCACCGGTGTAAGGAAAGGCTGGCACGAACATGTCACTCAGGACCTG
CGGAGCCATCTAGTGCATAAACTCGTCCAAGCCATCTTCCCAACACCTGATCCCGCAGCTCTAAAGGATCGCCGCATGGAAAACCTGGTA
GCCTATGCTAAGAAAGTGGAAGGGGACATGTACGAGTCTGCCAACAGCAGGGATGAATATTATCACTTATTAGCAGAGAAAATCTACAAG
ATACAAAAAGAACTAGAAGAAAAACGGAGGTCGCGTTTACATAAACAAGGCATCTTGGGGAACCAGCCAGCCTTACCAGCCCCGGGGGCT
CAGCCCCCTGTGATTCCACAGGCACAACCTGTGAGACCTCCAAATGGACCCCTGTCCCTGCCAGTGAATCGCATGCAAGTTTCTCAAGGG
ATGAATTCATTTAACCCCATGTCCTTGGGGAACGTCCAGTTGCCACAAGCACCCATGGGACCTCGTGCAGCCTCCCCAATGAACCACTCT
GTCCAGATGAACAGCATGGGCTCAGTGCCAGGGATGGCCATTTCTCCTTCCCGAATGCCTCAGCCTCCGAACATGATGGGTGCACACACC
AACAACATGATGGCCCAGGCGCCCGCTCAGAGCCAGTTTCTGCCACAGAACCAGTTCCCGTCATCCAGCGGGGCGATGAGTGTGGGCATG
GGGCAGCCGCCAGCCCAAACAGGCGTGTCACAGGGACAGGTGCCTGGTGCTGCTCTTCCTAACCCTCTCAACATGCTGGGGCCTCAGGCC
AGCCAGCTACCTTGCCCTCCAGTGACACAGTCACCACTGCACCCAACACCGCCTCCTGCTTCCACGGCTGCTGGCATGCCATCTCTCCAG
CACACGACACCACCTGGGATGACTCCTCCCCAGCCAGCAGCTCCCACTCAGCCATCAACTCCTGTGTCGTCTTCCGGGCAGACTCCCACC
CCGACTCCTGGCTCAGTGCCCAGTGCTACCCAAACCCAGAGCACCCCTACAGTCCAGGCAGCAGCCCAGGCCCAGGTGACCCCGCAGCCT
CAAACCCCAGTTCAGCCCCCGTCTGTGGCTACCCCTCAGTCATCGCAGCAACAGCCGACGCCTGTGCACGCCCAGCCTCCTGGCACACCG
CTTTCCCAGGCAGCAGCCAGCATTGATAACAGAGTCCCTACCCCCTCCTCGGTGGCCAGCGCAGAAACCAATTCCCAGCAGCCAGGACCT
GACGTACCTGTGCTGGAAATGAAGACGGAGACCCAAGCAGAGGACACTGAGCCCGATCCTGGTGAATCCAAAGGGGAGCCCAGGTCTGAG
ATGATGGAGGAGGATTTGCAAGGAGCTTCCCAAGTTAAAGAAGAAACAGACATAGCAGAGCAGAAATCAGAACCAATGGAAGTGGATGAA
AAGAAACCTGAAGTGAAAGTAGAAGTTAAAGAGGAAGAAGAGAGTAGCAGTAACGGCACAGCCTCTCAGTCAACATCTCCTTCGCAGCCG
CGCAAAAAAATCTTTAAACCAGAGGAGTTACGCCAGGCCCTCATGCCAACCCTAGAAGCACTGTATCGACAGGACCCAGAGTCATTACCT
TTCCGGCAGCCTGTAGATCCCCAGCTCCTCGGAATTCCAGACTATTTTGACATCGTAAAGAATCCCATGGACCTCTCCACCATCAAGCGG
AAGCTGGACACAGGGCAATACCAAGAGCCCTGGCAGTACGTGGACGACGTCTGGCTCATGTTCAACAATGCCTGGCTCTATAATCGCAAG
ACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTCATGCAGTCCCTTGGATATTGCTGT
GGACGCAAGTATGAGTTTTCCCCACAGACTTTGTGCTGCTATGGGAAGCAGCTGTGTACCATTCCTCGCGATGCTGCCTACTACAGCTAT
CAGAATAGGTATCATTTCTGTGAGAAGTGTTTCACAGAGATCCAGGGCGAGAATGTGACCCTGGGTGACGACCCTTCACAGCCCCAGACG
ACAATTTCAAAGGATCAGTTTGAAAAGAAGAAAAATGATACCTTAGACCCCGAACCGGCTGCTGGAGAGCCAGAGGCTGGCAGCGACTAT
GTGAAGTTCTCCAAGGAGAAGTACATCCTGGACTCATCGCCAGAGAAACTCCACAAGGAATTGGAGGAGGAGCTCAAACTCAGCAGCACG
GATCTCCGCAGCCATGCCTGGTACCATGGCCGCATCCCCCGAGAGGTCTCGGAGACCTTGGTACAACGCAACGGCGACTTCCTCATCCGG
GACTCACTCACCAGCCTGGGCGACTATGTGCTCACGTGCCGCTGGCGCAACCAGGCCTTGCACTTCAAGATCAACAAGGTGGTGGTGAAG
GCAGGCGAGAGCTACACACACATCCAGTACCTGTTTGAGCAGGAGAGCTTTGACCACGTGCCCGCCCTCGTGCGCTATCATGTGGGCAGC
CGCAAGGCTGTGTCAGAGCAGAGTGGTGCCATCATCTACTGCCCGGTGAACCGCACCTTCCCACTGCGCTACCTCGAGGCCAGCTATGGC
CTGGGACAGGGGAGTAGCAAGCCTGCTAGCCCCGTCAGCCCCTCAGGCCCCAAGGGCAGCCACATGAAGCGGCGCAGCGTCACCATGACC
GATGGGCTCACTGCTGACAAGGTCACCCGCAGCGATGGCTGCCCCACCAGTACGTCGCTGCCCCGCCCTCGGGACTCCATCCGCAGCTGT
GCCCTCAGCATGGACCAGATCCCAGACCTGCACTCACCCATGTCGCCCATCTCCGAGAGCCCTAGCTCCCCTGCCTACAGCACTGTAACC
CGTGTCCATGCCGCCCCTGCAGCCCCTTCTGCCACAGCATTGCCTGCCTCCCCTGTCGCCCGCCGTTCCAGTGAGCCCCAGCTGTGTCCC
GGAAGTGCCCCAAAGACCCATGGGGAGTCAGACAAGGGCCCCCACACCAGCCCCTCCCACACCCTTGGCAAGGCCTCCCCGTCACCATCA
CTCAGCAGCTACAGTGACCCGGACTCTGGCCACTACTGCCAGCTCCAGCCTCCCGTGCGTGGCAGCCGAGAGTGGGCAGCGACTGAGACC
TCCAGCCAGCAGGCCAGGAGCTATGGGGAGAGGCTAAAGGAACTGTCAGAAAATGGGGCCCCTGAAGGGGACTGGGGCAAGACCTTCACA
GTCCCCATCGTGGAAGTCACTTCTTCCTTCAACCCGGCCACCTTCCAGTCACTACTGATCCCCAGGGATAACCGGCCACTGGAGGTGGGC
CTTCTGCGCAAGGTCAAGGAGCTGCTGGCAGAAGTGGATGCCCGGACGCTGGCCCGGCATGTCACCAAGGTGGACTGCCTGGTTGCTAGG
ATACTGGGCGTTACCAAGGAGATGCAGACCCTAATGGGAGTCCGCTGGGGCATGGAACTGCTCACCCTCCCCCATGGCCGGCAGCTACGC
CTAGACCTGCTGGAAAGGTTCCACACCATGTCCATCATGCTGGCCGTGGACATCCTGGGCTGCACCGGCTCTGCGGAGGAGCGGGCAGCG
CTGCTGCACAAGACCATTCAGCTGGCGGCCGAGCTGCGGGGGACTATGGGCAACATGTTCAGCTTCGCGGCGGTCATGGGTGCCCTGGAC
ATGGCCCAGATTTCTCGGCTGGAGCAGACATGGGTGACCCTGCGGCAGCGACACACAGAGGGTGCCATCCTGTACGAGAAGAAGCTCAAG
CCTTTTCTCAAGAGCCTCAACGAGGGCAAAGAAGGCCCGCCGCTGAGCAACACCACGTTTCCTCATGTGCTGCCCCTCATCACCCTGCTG
GAGTGTGACTCGGCCCCACCAGAGGGCCCTGAGCCCTGGGGCAGCACGGAGCACGGCGTGGAGGTGGTGCTGGCTCACCTGGAGGCCGCC
CGCACAGTGGCACACCACGGAGGCCTGTACCACACCAATGCTGAAGTCAAGCTGCAGGGGTTCCAGGCCCGGCCGGAGCTCCTGGAGGTG
TTCAGCACGGAGTTCCAGATGCGCCTTCTCTGGGGCAGTCAGGGTGCCAGCAGCAGCCAGGCCCGGCGCTATGAGAAGTTCGACAAGGTC
CTCACTGCCCTGTCCCACAAGCTGGAACCTGCTGTCCGCTCCAGCGAGCTGTGACCCCAGGGACATTTCCCCTCTGCAGCTGCGGACAGC
GTCAGGGGCAGAGGGGCACACAACTTTCCCCAGAGCACCCCAAGGACACTGTGATCAACCCGAGAATGTTCTGGGTTCAACTCAAGCATC
TCCCTTGCACCTCCAGGGTCCTGCGTGGACTCTGGGTTCCATCCCACCTGCTACATGCTCACCAGGTCTCCATTGAGGAAGAACAGGAAC
GCCGGTTCCCCCACCAGCTTTTGCTGCTCCCCTTCCTGCTGGGGTTCCCTGTTTTCGAGCCATGGGAGGCAGGCTGCTCACGCCTCCTCA
CTCTCTGTCTGTCCCTCACCAACACCAAGGCCTCCATCTCACTGTAAATAAGTCTCTGTTCTGTAAATAGATGTACAGAAGCCATGTTAT
TTCTTTCATATAATAAACTTTTATGACTCTTTA

>19381_19381_2_CREBBP-SH2D3C_CREBBP_chr16_3799628_ENST00000382070_SH2D3C_chr9_130523929_ENST00000373277_length(amino acids)=1997AA_BP=1309
LRGAVAVAEIWPPPPPPGLRPPSPSAPARPLAARARSSPSQPAGPPTPVRALAGPAARARGCFREQVKMAENLLDGPPNPKRAKLSSPGF
SANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANM
ASLSAMGKSPLSQGDSSAPSLPKQAASTSGPTPAASQALNPQAQKQVGLATSSPATSQTGPGICMNANFNQTHPGLLNSNSGHSLINQAS
QGQAQVMNGSLGAAGRGRGAGMPYPTPAMQGASSSVLAETLTQVSPQMTGHAGLNTAQAGGMAKMGITGNTSPFGQPFSQAGGQPMGATG
VNPQLASKQSMVNSLPTFPTDIKNTSVTNVPNMSQMQTSVGIVPTQAIATGPTADPEKRKLIQQQLVLLLHAHKCQRREQANGEVRACSL
PHCRTMKNVLNHMTHCQAGKACQAILGSPASGIQNTIGSVGTGQQNATSLSNPNPIDPSSMQRAYAALGLPYMNQPQTQLQPQVPGQQPA
QPQTHQQMRTLNPLGNNPMNIPAGGITTDQQPPNLISESALPTSLGATNPLMNDGSNSGNIGTLSTIPTAAPPSSTGVRKGWHEHVTQDL
RSHLVHKLVQAIFPTPDPAALKDRRMENLVAYAKKVEGDMYESANSRDEYYHLLAEKIYKIQKELEEKRRSRLHKQGILGNQPALPAPGA
QPPVIPQAQPVRPPNGPLSLPVNRMQVSQGMNSFNPMSLGNVQLPQAPMGPRAASPMNHSVQMNSMGSVPGMAISPSRMPQPPNMMGAHT
NNMMAQAPAQSQFLPQNQFPSSSGAMSVGMGQPPAQTGVSQGQVPGAALPNPLNMLGPQASQLPCPPVTQSPLHPTPPPASTAAGMPSLQ
HTTPPGMTPPQPAAPTQPSTPVSSSGQTPTPTPGSVPSATQTQSTPTVQAAAQAQVTPQPQTPVQPPSVATPQSSQQQPTPVHAQPPGTP
LSQAAASIDNRVPTPSSVASAETNSQQPGPDVPVLEMKTETQAEDTEPDPGESKGEPRSEMMEEDLQGASQVKEETDIAEQKSEPMEVDE
KKPEVKVEVKEEEESSSNGTASQSTSPSQPRKKIFKPEELRQALMPTLEALYRQDPESLPFRQPVDPQLLGIPDYFDIVKNPMDLSTIKR
KLDTGQYQEPWQYVDDVWLMFNNAWLYNRKTSRVYKFCSKLAEVFEQEIDPVMQSLGYCCGRKYEFSPQTLCCYGKQLCTIPRDAAYYSY
QNRYHFCEKCFTEIQGENVTLGDDPSQPQTTISKDQFEKKKNDTLDPEPAAGEPEAGSDYVKFSKEKYILDSSPEKLHKELEEELKLSST
DLRSHAWYHGRIPREVSETLVQRNGDFLIRDSLTSLGDYVLTCRWRNQALHFKINKVVVKAGESYTHIQYLFEQESFDHVPALVRYHVGS
RKAVSEQSGAIIYCPVNRTFPLRYLEASYGLGQGSSKPASPVSPSGPKGSHMKRRSVTMTDGLTADKVTRSDGCPTSTSLPRPRDSIRSC
ALSMDQIPDLHSPMSPISESPSSPAYSTVTRVHAAPAAPSATALPASPVARRSSEPQLCPGSAPKTHGESDKGPHTSPSHTLGKASPSPS
LSSYSDPDSGHYCQLQPPVRGSREWAATETSSQQARSYGERLKELSENGAPEGDWGKTFTVPIVEVTSSFNPATFQSLLIPRDNRPLEVG
LLRKVKELLAEVDARTLARHVTKVDCLVARILGVTKEMQTLMGVRWGMELLTLPHGRQLRLDLLERFHTMSIMLAVDILGCTGSAEERAA
LLHKTIQLAAELRGTMGNMFSFAAVMGALDMAQISRLEQTWVTLRQRHTEGAILYEKKLKPFLKSLNEGKEGPPLSNTTFPHVLPLITLL
ECDSAPPEGPEPWGSTEHGVEVVLAHLEAARTVAHHGGLYHTNAEVKLQGFQARPELLEVFSTEFQMRLLWGSQGASSSQARRYEKFDKV
LTALSHKLEPAVRSSEL

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Top

Fusion Gene PPI Analysis for CREBBP-SH2D3C

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
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000262367	-	21	31	1162_1180	1278.6666666666667	2443.0	ASF1A
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000382070	-	20	30	1162_1180	1240.6666666666667	2405.0	ASF1A
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000262367	-	21	31	1124_1170	1278.6666666666667	2443.0	histone
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000382070	-	20	30	1124_1170	1240.6666666666667	2405.0	histone
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000262367	-	21	31	227_410	1278.6666666666667	2443.0	SRCAP
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000382070	-	20	30	227_410	1240.6666666666667	2405.0	SRCAP

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000262367	-	21	31	1433_1435	1278.6666666666667	2443.0	histone
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000382070	-	20	30	1433_1435	1240.6666666666667	2405.0	histone
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000262367	-	21	31	1460_1891	1278.6666666666667	2443.0	TRERF1
Hgene	CREBBP	chr16:3799628	chr9:130523929	ENST00000382070	-	20	30	1460_1891	1240.6666666666667	2405.0	TRERF1

- 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 CREBBP-SH2D3C

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 CREBBP-SH2D3C

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CREBBP	C4551859	RUBINSTEIN-TAYBI SYNDROME 1	12	CLINGEN;GENOMICS_ENGLAND;UNIPROT
Hgene	CREBBP	C0035934	Rubinstein-Taybi Syndrome	6	CLINGEN;CTD_human
Hgene	CREBBP	C0033578	Prostatic Neoplasms	2	CTD_human
Hgene	CREBBP	C0376358	Malignant neoplasm of prostate	2	CTD_human
Hgene	CREBBP	C4511003	Acute myeloid leukemia with t(8;16)(p11;p13) translocation	2	ORPHANET
Hgene	CREBBP	C0005684	Malignant neoplasm of urinary bladder	1	CTD_human
Hgene	CREBBP	C0005695	Bladder Neoplasm	1	CTD_human
Hgene	CREBBP	C0007137	Squamous cell carcinoma	1	CTD_human
Hgene	CREBBP	C0007138	Carcinoma, Transitional Cell	1	CTD_human
Hgene	CREBBP	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
Hgene	CREBBP	C0011573	Endogenous depression	1	PSYGENET
Hgene	CREBBP	C0024301	Lymphoma, Follicular	1	CTD_human
Hgene	CREBBP	C0036920	Sezary Syndrome	1	CTD_human
Hgene	CREBBP	C0079745	Lymphoma, Large-Cell, Follicular	1	CTD_human
Hgene	CREBBP	C0079758	Lymphoma, Mixed-Cell, Follicular	1	CTD_human
Hgene	CREBBP	C0079765	Lymphoma, Small Cleaved-Cell, Follicular	1	CTD_human
Hgene	CREBBP	C0149925	Small cell carcinoma of lung	1	CTD_human
Hgene	CREBBP	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
Hgene	CREBBP	C0279626	Squamous cell carcinoma of esophagus	1	CTD_human
Hgene	CREBBP	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	1	CTD_human
Hgene	CREBBP	C1862941	Amyotrophic Lateral Sclerosis, Sporadic	1	CTD_human
Hgene	CREBBP	C1956130	Lymphoma, Follicular, Grade 1	1	CTD_human
Hgene	CREBBP	C1956131	Lymphoma, Follicular, Grade 3	1	CTD_human
Hgene	CREBBP	C1956132	Lymphoma, Follicular, Grade 2	1	CTD_human
Hgene	CREBBP	C4551993	Amyotrophic Lateral Sclerosis, Familial	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:CREBBP-SH2D3C (FusionGDB2 ID:HG1387TG10044)

Fusion Gene Summary for CREBBP-SH2D3C

Fusion Gene ORF analysis for CREBBP-SH2D3C

Fusion Genomic Features for CREBBP-SH2D3C

Fusion Protein Features for CREBBP-SH2D3C

Fusion Gene Sequence for CREBBP-SH2D3C

Fusion Gene PPI Analysis for CREBBP-SH2D3C

Related Drugs for CREBBP-SH2D3C

Related Diseases for CREBBP-SH2D3C

Fusion Gene Studies
in Kim Lab