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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:CHD8-IMPG1 (FusionGDB2 ID:16420)

Fusion Gene Summary for CHD8-IMPG1

Fusion gene summary

Fusion gene information	Fusion gene name: CHD8-IMPG1
	Fusion gene ID: 16420
		Hgene	Tgene
	Gene symbol	CHD8	IMPG1
	Gene ID	57680	3617
	Gene name	chromodomain helicase DNA binding protein 8	interphotoreceptor matrix proteoglycan 1
	Synonyms	AUTS18\|HELSNF1	GP147\|IPM150\|SPACR\|VMD4
	Cytomap	14q11.2	6q14.1
	Type of gene	protein-coding	protein-coding
	Description	chromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1	interphotoreceptor matrix proteoglycan 1interphotoreceptor matrix proteoglycan of 150 kDasialoprotein associated with cones and rods
	Modification date	20200329	20200313
	UniProtAcc	Q9HCK8	Q17R60
	Ensembl transtripts involved in fusion gene	ENST00000430710, ENST00000399982, ENST00000557364, ENST00000555962,	ENST00000369963, ENST00000369950,
Fusion gene scores	* DoF score	12 X 12 X 10=1440	3 X 4 X 3=36
	# samples	18	3
	** MAII score	log2(18/1440*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/36*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CHD8 [Title/Abstract] AND IMPG1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CHD8(21894287)-IMPG1(76744504), # samples:3
Anticipated loss of major functional domain due to fusion event.	CHD8-IMPG1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CHD8-IMPG1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	CHD8	GO:0045893	positive regulation of transcription, DNA-templated	17938208
Hgene	CHD8	GO:0090090	negative regulation of canonical Wnt signaling pathway	18378692\|22083958

Fusion gene breakpoints across CHD8 (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 IMPG1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	BRCA	TCGA-PE-A5DD-01A	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-
ChimerDB4	BRCA	TCGA-PE-A5DD-01A	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-
ChimerDB4	BRCA	TCGA-PE-A5DD-01A	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-

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Fusion Gene ORF analysis for CHD8-IMPG1

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
Frame-shift	ENST00000430710	ENST00000369963	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-
Frame-shift	ENST00000430710	ENST00000369950	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-
In-frame	ENST00000399982	ENST00000369963	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-
Frame-shift	ENST00000399982	ENST00000369950	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-
Frame-shift	ENST00000557364	ENST00000369963	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-
In-frame	ENST00000557364	ENST00000369950	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-
intron-3CDS	ENST00000555962	ENST00000369963	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-
intron-3CDS	ENST00000555962	ENST00000369950	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-

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)
ENST00000399982	CHD8	chr14	21894287	-	ENST00000369963	IMPG1	chr6	76744504	-	7319	1781	4392	6344	650
ENST00000557364	CHD8	chr14	21894287	-	ENST00000369950	IMPG1	chr6	76744504	-	5047	1980	2018	4072	684

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
ENST00000399982	ENST00000369963	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-	0.000927795	0.9990722
ENST00000557364	ENST00000369950	CHD8	chr14	21894287	-	IMPG1	chr6	76744504	-	0.002437837	0.99756217

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Fusion Genomic Features for CHD8-IMPG1

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.

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 CHD8-IMPG1

Go to
FGviewer for the breakpoints of chr14:21894287-chr6:76744504
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

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

Hgene	Tgene
CHD8 Q9HCK8	IMPG1 Q17R60
FUNCTION: DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. {ECO:0000255\|HAMAP-Rule:MF_03071, ECO:0000269\|PubMed:17938208, ECO:0000269\|PubMed:18378692}.	FUNCTION: Chondroitin sulfate-, heparin- and hyaluronan-binding protein (By similarity). May serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix (PubMed:9813076). {ECO:0000250\|UniProtKB:Q8JIR8, ECO:0000269\|PubMed:9813076}.

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

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

292_410

572.0

2582.0

Compositional bias

Gln-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

292_410

572.0

2582.0

Compositional bias

Gln-rich

Tgene

IMPG1

chr14:21894287

chr6:76744504

ENST00000369950

232_354

100.33333333333333

798.0

Domain

SEA 1

Tgene

IMPG1

chr14:21894287

chr6:76744504

ENST00000369950

571_684

100.33333333333333

798.0

Domain

SEA 2

Tgene

IMPG1

chr14:21894287

chr6:76744504

ENST00000369950

621_629

100.33333333333333

798.0

Motif

Heparin- and hyaluronan-binding

- 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

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

2069_2098

572.0

2582.0

Compositional bias

Ser-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

2493_2508

572.0

2582.0

Compositional bias

His-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

2539_2581

572.0

2582.0

Compositional bias

Asp-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

2069_2098

293.0

2303.0

Compositional bias

Ser-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

2493_2508

293.0

2303.0

Compositional bias

His-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

2539_2581

293.0

2303.0

Compositional bias

Asp-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

292_410

293.0

2303.0

Compositional bias

Gln-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

2069_2098

572.0

2582.0

Compositional bias

Ser-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

2493_2508

572.0

2582.0

Compositional bias

His-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

2539_2581

572.0

2582.0

Compositional bias

Asp-rich

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

1137_1288

572.0

2582.0

Domain

Helicase C-terminal

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

642_709

572.0

2582.0

Domain

Chromo 1

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

724_790

572.0

2582.0

Domain

Chromo 2

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

823_997

572.0

2582.0

Domain

Helicase ATP-binding

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

1137_1288

293.0

2303.0

Domain

Helicase C-terminal

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

642_709

293.0

2303.0

Domain

Chromo 1

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

724_790

293.0

2303.0

Domain

Chromo 2

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

823_997

293.0

2303.0

Domain

Helicase ATP-binding

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

1137_1288

572.0

2582.0

Domain

Helicase C-terminal

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

642_709

572.0

2582.0

Domain

Chromo 1

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

724_790

572.0

2582.0

Domain

Chromo 2

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

823_997

572.0

2582.0

Domain

Helicase ATP-binding

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

948_951

572.0

2582.0

Motif

DEAH box

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

948_951

293.0

2303.0

Motif

DEAH box

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

948_951

572.0

2582.0

Motif

DEAH box

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000399982

836_843

572.0

2582.0

Nucleotide binding

ATP

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000430710

836_843

293.0

2303.0

Nucleotide binding

ATP

Hgene

CHD8

chr14:21894287

chr6:76744504

ENST00000557364

836_843

572.0

2582.0

Nucleotide binding

ATP

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Fusion Gene Sequence for CHD8-IMPG1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>In-frame_ENST00000399982_ENST00000369963_TCGA-PE-A5DD-01A_CHD8_chr14_21894287_-_IMPG1_chr6_76744504_length(transcript)=7319nt_BP=1781nt
GCCAGTACCCCCCCTCCCCTTCCCTCCCTAGACCTTGGAGAAGTACCCTCCATTACTTTCCCAAGATGGCAGACCCCATCATGGATCTGT
TCGATGACCCAAATTTATTTGGCCTGGACTCTCTGACTGATGACAGCTTTAACCAGGTCACACAAGACCCCATTGAGGAAGCCCTTGGAC
TGCCAAGCTCTCTGGACTCCTTGGATCAGATGAACCAGGATGGTGGAGGTGGTGATGTGGGGAATTCATCAGCAAGTGAACTGGTCCCTC
CACCAGAGGAAACAGCTCCCACAGAACTTTCCAAAGAATCCACAGCTCCAGCTCCAGAATCCATAACCTTGCATGATTATACCACTCAGC
CTGCCAGCCAGGAGCAGCCAGCCCAACCTGTCTTACAGACATCGACGCCAACATCAGGACTTTTGCAAGTCTCCAAGAGCCAGGAGATCC
TGAGCCAAGGGAATCCTTTCATGGGTGTCTCTGCCACAGCTGTCTCCTCCAGTAGTGCTGGAGGGCAGCCACCTCAGTCAGCCCCTAAGA
TTGTTATCCTTAAGGCCCCACCAAGCTCCTCAGTCACTGGTGCCCATGTGGCACAAATTCAGGCCCAAGGTATCACCAGCACAGCTCAGC
CCCTGGTGGCAGGCACAGCCAATGGTGGAAAAGTCACTTTTACCAAAGTGCTAACCGGCACACCCCTTCGACCAGGTGTTTCCATTGTCT
CTGGTAATACAGTGTTGGCCGCCAAGGTCCCTGGGAACCAGGCTGCTGTTCAGCGCATTGTCCAGCCCAGCCGACCAGTAAAGCAGCTGG
TCCTCCAGCCAGTTAAGGGTTCAGCTCCTGCTGGAAACCCTGGGGCCACAGGGCCCCCACTGAAGCCTGCAGTTACACTGACCTCTACAC
CTACCCAGGGTGAATCGAAACGCATCACCCTGGTCCTCCAGCAGCCACAGTCTGGAGGTCCCCAAGGACATCGGCATGTTGTGCTAGGGA
GTCTACCAGGCAAGATAGTGTTACAGGGCAACCAGCTGGCAGCCCTGACTCAAGCCAAGAATGCCCAAGGGCAGCCTGCCAAGGTAGTAA
CTATCCAGCTGCAGGTGCAGCAGCCACAGCAAAAAATCCAGATTGTACCACAACCACCATCATCGCAGCCACAGCCCCAGCAGCCACCCT
CCACCCAGCCAGTGACTCTGTCCTCTGTACAGCAGGCTCAGATAATGGGACCAGGACAAAGCCCAGGACAAAGACTTTCAGTACCAGTCA
AGGTGGTACTGCAGCCACAGGCTGGCTCTTCCCAAGGGGCCTCTTCTGGGCTCTCTGTAGTTAAAGTTCTGAGTGCCAGTGAAGTGGCAG
CTTTGTCATCACCAGCAAGCTCTGCTCCTCATTCGGGGGGAAAGACAGGAATGGAGGAAAACCGCAGATTGGAACACCAGAAGAAGCAAG
AGAAAGCAAATCGGATTGTAGCAGAGGCCATTGCGAGAGCCCGTGCCCGCGGTGAGCAGAACATACCTCGAGTCTTAAATGAGGACGAGT
TGCCCAGCGTTCGGCCAGAGGAGGAAGGCGAGAAGAAACGCAGGAAGAAGAGTGCTGGGGAGAGGCTGAAAGAGGAGAAGCCAAAGAAGA
GTAAAACATCTGGTGCCTCCAAAACAAAGGGCAAGAGCAAGCTCAACACCATCACTCCTGTAGTGGGTAAGAAGAGAAAACGTAATACCT
CATCTGATAATTCAGATGTGGAAGTCATGCCTGCACAGTCACCTCGAGAAGATGAAGAAAGCAGCATTCAGTGTGTCAGGAAGCAGTATG
GGAAGCATATCGGATCTTTCTGGATCGCATCCCTGACACAGGGGAATATCAGGACTGGGTCAGCATCTGCCAGCAGGAGACCTTCTGCCT
CTTTGACATTGGAAAAAACTTCAGCAATTCCCAGGAGCACCTGGATCTTCTCCAGCAGAGAATAAAACAGAGAAGTTTCCCTGACAGAAA
AGATGAAATATCTGCAGAGAAGACATTGGGAGAGCCTGGTGAAACCATTGTCATTTCAACAGAAAAGAATAAAGGTAAAACCAAACCATT
CAATATCTTACAGTTTGGAAACAACCATCATGAACATTTACTGCCTATTTTCTGCCTTCTTTCTTCTATTATATACACATATTACTGAGA
CCATATTTACTTAGAGTTTGTATCATTTTTTCCACTTAACCTGATGTAAAGGATATTTTATAGTTCACTAAAATTTCTTCAAAGTTATCA
TTTTAATGACTTGCAACATTCTGTTGCATCCATATGGATGTCATCAACTTAACCATTGCATCATTGTATCTGACATTACAAATAGTGTTT
TAATTAAGATATTTAAACATAAATCTTTGTCAAATCACTAATTTCTCAAAATAGATTACTAAGTCAAACACTATGGATTTTAAGGCTTTT
AATAAATTTTGCCAAATTTTTTTTCCAGAAATTTTGTTACAATTTAAATATCCCACTGGCAGAAAAGACAAGAACCTGTCTCATTGCAGC
ACTTATCAATATTGAATATTACTATTTATTCTAGAGTTTGCCAAAAGGCAGAGGAAAATCATTTCTCCTGTGTTTATTAGATGTTTGAAA
TTTCTCTTTCATGTATATTTCTATTGCAGTCTTCCCATTTTCACATAAAAGAATACTTTTAAATATACACAATAAAACTATTCTCTGGGC
AATGTGTTCCCCAGTTCATTTGATTTTTGGTAATGTGAATAATGTTTTAAGAAATTAATTTTTCATGACTTAAAATGTAGAAATTGAGAA
AATAGATATTTGTAAATAAATGATATTACTTTCCCATTTCTTCCTTTACTGACATTCAGAGAAAGCCGGCTGTGCCTATATTTCAATTTT
CTCCTAAGTTCAGCTAATTTATCATTTCTGGACTGACTTGTAGCTAATAATAGGACAAGCCTAGTTGAATTTTAATTATAAAATGACAGT
AAAATGCATTTTTAACAATAAAAAGAAGAGCTACATAGTTAATTCCCCCATATAAACAGCTCAAATTTGACCTGTGACACCTAATATCAA
GTCTTATTCAAAAAGGTATTATTTAGAGGAGGAGCATATAAACATGTAAAAAGACGTTTTGTACTGACTTCATTTTAATATGGGAAAACA
AAATTAATAAGAGAATTGAAATTTGTATTTCTACTTTAAACTTGAAGGTAATGTACTTTAGCTGATAGAAACTTTTGTAATAACAAGATT
AGATTTAGTAAGTTAGAGTAAGTTAATATGACCCCTTTCTTATAAATTATTTTTCATTTTTTTAAATAAAAACTTTGAGGGATCAGTGGA
CAATTCATATATTATAATATAATATGATATATCATCACCATATATTTAAGTTCTAGCAACAAATGTTTTAGAATTATTTCCCCAGTACTT
CTGGACACCTCCAGTTGAAGTATACACACAGAACAGTTAAGATTAGATTTTGATTGGGAAATGTTACTAGGTGCCTAGGTGTGAAGGAAG
AGTGAGAAATCTCCAAAAGAGGCTGAATGTGCTCGAAGACAAACCCAGGCTACCTAATAATTGTTTTTAGGTGTAAGTATGTGAATAATT
TATCTTTTCAAGGCAATAAAATGGAAGGATAGCCAAATAAAAATTTGTTCTTCTAGGGTACCAGCTAAGTACTTTTTTATTGTAACAAAA
ATTGTAGCATAAACCGATTATTCATAGAATTACAAAGTTTGAAGGTGCCTTACATTGGTAATAGTCTGATGAAGTCCAGAGCACAGAACA
CCTCCATCCCAATTGCTCACAGCAGGATTCTTCAATGAGGGCAGAAGGGGAAGATGCCAGGGACCACATCCTTTGAGGTTCTGATATGCC
ACAGGGTATGTACTTTATTAGCCAAAAAACTGCCTTGCCTAGATGATTCTGATACCCACTCTCACGCCCCCACTAGGAAGCACAATTCCA
CACCCAGGGCAATTACTTCACAGAGCCTCACAGTGACAAGTAACCACTTGTGACCGCAGATTCCCAGGTACCACATACTCTTCAGGGAGT
AAGGAAAGATTGAATCATTTTTCAGTATATCTTGTTTTCTAAAACACAAGAATAAACTAAGGCATTCTATGTTTTTGCCTAATTAAGGTT
GAAATGGAAAGTTGTTTCTGGCTAAATATAAACCAATTAACTATAACACTATTTTCTCTGAGCATTTTTTTAAATAATAATTTATTACAA
AATAGAAATGCATTTGTATTATAATAACGCTTTTTTCTTTGCTTGAATAGAACCCAGACTTGCACTCTATGAAGATCTTTAAAAATATCA
AAACATTTGCCACATATTTGAAATGGTTTATGGTGATCTGTTCTAAAAGAAGTGAAATTCATAGCATCTTAAATGTTCTTTCATCTCTTG
GATTTTCTGATTAAAATCTTATTCCTCAATGATTGCTTAAGCAATCTACATTTTAAAGACTTGGGCAGTATTCTAAGAAAACCCTCAGAA
GAGCAAATTCAAGATGTTGCCAACGTCTCACTTGGGCCTTTCCCTCTCACTCCTGATGACACCCTCCTCAATGAAATTCTCGATAATACA
CTCAACGACACCAAGATGCCTACAACAGAAAGAGAAACAGAATTCGCTGTGTTGGAGGAGCAGAGGGTGGAGCTCAGCGTCTCTCTGGTA
AACCAGAAGTTCAAGGCAGAGCTCGCTGACTCCCAGTCCCCATATTACCAGGAGCTAGCAGGAAAGTCCCAACTTCAGATGCAAAAGATA
TTTAAGAAACTTCCAGGATTCAAAAAAATCCATGTGTTAGGATTTAGACCAAAGAAAGAAAAAGATGGCTCAAGCTCCACAGAGATGCAA
CTTACGGCCATCTTTAAGAGACACAGTGCAGAAGCAAAAAGCCCTGCAAGTGACCTCCTGTCTTTTGATTCCAACAAAATTGAAAGTGAG
GAAGTCTATCATGGAACCATGGAGGAGGACAAGCAACCAGAAATCTATCTCACAGCTACAGACCTCAAAAGGCTGATCAGCAAAGCACTA
GAGGAAGAACAATCTTTGGATGTGGGGACAATTCAGTTCACTGATGAAATTGCTGGATCACTGCCAGCCTTTGGTCCTGACACCCAATCA
GAGCTGCCCACATCTTTTGCTGTTATAACAGAGGATGCTACTTTGAGTCCAGAACTTCCTCCTGTTGAACCCCAGCTTGAGACAGTGGAC
GGAGCAGAGCATGGTCTACCTGACACTTCTTGGTCTCCACCTGCTATGGCCTCTACCTCCCTGTCAGAAGCTCCACCTTTCTTTATGGCA
TCAAGCATCTTCTCTCTGACTGATCAAGGCACCACAGATACAATGGCCACTGACCAGACAATGCTAGTACCAGGGCTCACCATCCCCACC
AGTGATTATTCTGCAATCAGCCAACTGGCTCTGGGAATTTCACATCCACCTGCATCTTCAGATGACAGCCGATCAAGTGCAGGTGGCGAA
GATATGGTCAGACACCTAGATGAAATGGATCTGTCTGACACTCCTGCCCCATCTGAGGTACCAGAGCTCAGCGAATATGTTTCTGTCCCA
GATCATTTCTTGGAGGATACCACTCCTGTCTCAGCTTTACAGTATATCACCACTAGTTCTATGACCATTGCCCCCAAGGGCCGAGAGCTG
GTAGTGTTCTTCAGTCTGCGTGTTGCTAACATGGCCTTCTCCAACGACCTGTTCAACAAGAGCTCTCTGGAGTACCGAGCTCTGGAGCAA
CAATTCACACAGCTGCTGGTTCCATATCTACGATCCAATCTTACAGGATTTAAGCAACTTGAAATACTTAACTTCAGAAACGGGAGTGTG
ATTGTGAATAGCAAAATGAAGTTTGCTAAGTCAGTGCCGTATAACCTCACCAAGGCTGTGCACGGGGTCTTGGAGGATTTTCGTTCTGCT
GCAGCCCAACAACTCCATCTGGAAATAGACAGCTACTCTCTCAACATTGAACCAGCTGATCAAGCAGATCCCTGCAAGTTCCTGGCCTGC
GGCGAATTTGCCCAATGTGTAAAGAACGAACGGACTGAGGAAGCGGAGTGTCGCTGCAAACCAGGATATGACAGCCAGGGGAGCCTGGAC
GGTCTGGAACCAGGCCTCTGTGGCCCTGGCACAAAGGAATGCGAGGTCCTCCAGGGAAAGGGAGCTCCATGCAGGTTGCCAGATCACTCT
GAAAATCAAGCATACAAAACTAGTGTTAAAAAGTTCCAAAATCAACAAAATAACAAGGTAATCAGTAAAAGAAATTCTGAATTACTGACC
GTAGAATATGAAGAATTTAACCATCAAGATTGGGAAGGAAATTAAAAACTGAAAATGTACAATTATCATTTAGGCTATCTCAAGAGAGAT
GATTTGCCTTCTCAAGGAAAATGGAGACAGGCATATTCATGGGTCATCAAAATCCAGACATACAGTCAACACTGAGAATCAGCACACACC
ATATTTCAAATATAGAAGAGTCATGTACTTGGCAACCAGTAAATTCTGAAGAAAAAGACACTTACTTATTATTAAAACCCCAAATGCAAT
CAGCGAAACATATTTTTACTATTCTTGGATGATAGTCAAAATGATCATAAGCCAGGTTTGCTTCCACCTTCCCTGAAAATTTTACTCACA
GATCATTTGCAACAAGCATAGCTTACTTATTGTTTAGGGACTGAACAATTTATTGGGAAGCAAACTCTTTATATGCTAGAAAGTACATTT
AAAAGATGACTACTTACGCAGGGAGATGCAGGTCTCTCTAAACGCATGAATGTATGTAGTGTGTAGGCACTGTAGTGAGTGTATATATGC
TCCACACTACGTCTGATAAACACAAACCTCAGTATTCAGTTATTAGGCACACTAGTTTTATACGCAACTACTGCTTACATAGTAGACTGT
TTTGTTGCCAATAATCTTTGAATTGTTCTTTAAAAGAAACTGAGGTTCAGATACACATACCATGGAAAAATCTTACTTTTCTTGTTACTA
CACAAAGCTATTTTAAAGAAGATGCTATGTTGGGAGAAGGGCGAAGTTGTACTATATGACATAATCAATTCCTGTCTTCCACCACAGATG
AACAATGTCTTCCTATAATAACTTCAGAATATTTCCTCACACCAACTTTAGTGTGTGTATACCTAGACTGGCATCAATGTAATCCAATTC
AGTCCATTTTTTATGTGCTGCTTAATGAAAATGAATCTGTCTCTATCTCTTTCAAATGTTCTAATATCAGATATATTTGCTACAAACCTT

>In-frame_ENST00000399982_ENST00000369963_TCGA-PE-A5DD-01A_CHD8_chr14_21894287_-_IMPG1_chr6_76744504_length(amino acids)=650AA_start in transcript=4392_stop in transcript=6344
MFFHLLDFLIKILFLNDCLSNLHFKDLGSILRKPSEEQIQDVANVSLGPFPLTPDDTLLNEILDNTLNDTKMPTTERETEFAVLEEQRVE
LSVSLVNQKFKAELADSQSPYYQELAGKSQLQMQKIFKKLPGFKKIHVLGFRPKKEKDGSSSTEMQLTAIFKRHSAEAKSPASDLLSFDS
NKIESEEVYHGTMEEDKQPEIYLTATDLKRLISKALEEEQSLDVGTIQFTDEIAGSLPAFGPDTQSELPTSFAVITEDATLSPELPPVEP
QLETVDGAEHGLPDTSWSPPAMASTSLSEAPPFFMASSIFSLTDQGTTDTMATDQTMLVPGLTIPTSDYSAISQLALGISHPPASSDDSR
SSAGGEDMVRHLDEMDLSDTPAPSEVPELSEYVSVPDHFLEDTTPVSALQYITTSSMTIAPKGRELVVFFSLRVANMAFSNDLFNKSSLE
YRALEQQFTQLLVPYLRSNLTGFKQLEILNFRNGSVIVNSKMKFAKSVPYNLTKAVHGVLEDFRSAAAQQLHLEIDSYSLNIEPADQADP
CKFLACGEFAQCVKNERTEEAECRCKPGYDSQGSLDGLEPGLCGPGTKECEVLQGKGAPCRLPDHSENQAYKTSVKKFQNQQNNKVISKR

--------------------------------------------------------------
>In-frame_ENST00000557364_ENST00000369950_TCGA-PE-A5DD-01A_CHD8_chr14_21894287_-_IMPG1_chr6_76744504_length(transcript)=5047nt_BP=1980nt
AGGGTGAGTTGAAACGCTGCCTGGAAAGGAAGTACCAGGACTTGCACAGGAGTTCCACCATCTTCCTCTGAAGACGTAGCCATCTTGCTC
CATGAAGGTCAGGACAATCTGACATGCACTTGTTTCTTGCCTCTATACTTGAAGAGTAGTCCTCTTACATTGTGTACATTTTTTTCTTAA
TAGGGGAGGGGAGGGGAGAGCCAGTACCCCCCCTCCCCTTCCCTCCCTAGACCTTGGAGAAGTACCCTCCATTACTTTCCCAAGATGGCA
GACCCCATCATGGATCTGTTCGATGACCCAAATTTATTTGGCCTGGACTCTCTGACTGATGACAGCTTTAACCAGGTCACACAAGACCCC
ATTGAGGAAGCCCTTGGACTGCCAAGCTCTCTGGACTCCTTGGATCAGATGAACCAGGATGGTGGAGGTGGTGATGTGGGGAATTCATCA
GCAAGTGAACTGGTCCCTCCACCAGAGGAAACAGCTCCCACAGAACTTTCCAAAGAATCCACAGCTCCAGCTCCAGAATCCATAACCTTG
CATGATTATACCACTCAGCCTGCCAGCCAGGAGCAGCCAGCCCAACCTGTCTTACAGACATCGACGCCAACATCAGGACTTTTGCAAGTC
TCCAAGAGCCAGGAGATCCTGAGCCAAGGGAATCCTTTCATGGGTGTCTCTGCCACAGCTGTCTCCTCCAGTAGTGCTGGAGGGCAGCCA
CCTCAGTCAGCCCCTAAGATTGTTATCCTTAAGGCCCCACCAAGCTCCTCAGTCACTGGTGCCCATGTGGCACAAATTCAGGCCCAAGGT
ATCACCAGCACAGCTCAGCCCCTGGTGGCAGGCACAGCCAATGGTGGAAAAGTCACTTTTACCAAAGTGCTAACCGGCACACCCCTTCGA
CCAGGTGTTTCCATTGTCTCTGGTAATACAGTGTTGGCCGCCAAGGTCCCTGGGAACCAGGCTGCTGTTCAGCGCATTGTCCAGCCCAGC
CGACCAGTAAAGCAGCTGGTCCTCCAGCCAGTTAAGGGTTCAGCTCCTGCTGGAAACCCTGGGGCCACAGGGCCCCCACTGAAGCCTGCA
GTTACACTGACCTCTACACCTACCCAGGGTGAATCGAAACGCATCACCCTGGTCCTCCAGCAGCCACAGTCTGGAGGTCCCCAAGGACAT
CGGCATGTTGTGCTAGGGAGTCTACCAGGCAAGATAGTGTTACAGGGCAACCAGCTGGCAGCCCTGACTCAAGCCAAGAATGCCCAAGGG
CAGCCTGCCAAGGTAGTAACTATCCAGCTGCAGGTGCAGCAGCCACAGCAAAAAATCCAGATTGTACCACAACCACCATCATCGCAGCCA
CAGCCCCAGCAGCCACCCTCCACCCAGCCAGTGACTCTGTCCTCTGTACAGCAGGCTCAGATAATGGGACCAGGACAAAGCCCAGGACAA
AGACTTTCAGTACCAGTCAAGGTGGTACTGCAGCCACAGGCTGGCTCTTCCCAAGGGGCCTCTTCTGGGCTCTCTGTAGTTAAAGTTCTG
AGTGCCAGTGAAGTGGCAGCTTTGTCATCACCAGCAAGCTCTGCTCCTCATTCGGGGGGAAAGACAGGAATGGAGGAAAACCGCAGATTG
GAACACCAGAAGAAGCAAGAGAAAGCAAATCGGATTGTAGCAGAGGCCATTGCGAGAGCCCGTGCCCGCGGTGAGCAGAACATACCTCGA
GTCTTAAATGAGGACGAGTTGCCCAGCGTTCGGCCAGAGGAGGAAGGCGAGAAGAAACGCAGGAAGAAGAGTGCTGGGGAGAGGCTGAAA
GAGGAGAAGCCAAAGAAGAGTAAAACATCTGGTGCCTCCAAAACAAAGGGCAAGAGCAAGCTCAACACCATCACTCCTGTAGTGGGTAAG
AAGAGAAAACGTAATACCTCATCTGATAATTCAGATGTGGAAGTCATGCCTGCACAGTCACCTCGAGAAGATGAAGAAAGCAGCATTCAG
TGTGTCAGGAAGCAGTATGGGAAGCATATCGGATCTTTCTGGATCGCATCCCTGACACAGGGGAATATCAGGACTGGGTCAGCATCTGCC
AGCAGGAGACCTTCTGCCTCTTTGACATTGGAAAAAACTTCAGCAATTCCCAGGAGCACCTGGATCTTCTCCAGCAGAGAATAAAACAGA
GAAGTTTCCCTGACAGAAAAGATGAAATATCTGCAGAGAAGACATTGGGAGAGCCTGGTGAAACCATTGTCATTTCAACAGATGTTGCCA
ACGTCTCACTTGGGCCTTTCCCTCTCACTCCTGATGACACCCTCCTCAATGAAATTCTCGATAATACACTCAACGACACCAAGATGCCTA
CAACAGAAAGAGAAACAGAATTCGCTGTGTTGGAGGAGCAGAGGGTGGAGCTCAGCGTCTCTCTGGTAAACCAGAAGTTCAAGGCAGAGC
TCGCTGACTCCCAGTCCCCATATTACCAGGAGCTAGCAGGAAAGTCCCAACTTCAGATGCAAAAGATATTTAAGAAACTTCCAGGATTCA
AAAAAATCCATGTGTTAGGATTTAGACCAAAGAAAGAAAAAGATGGCTCAAGCTCCACAGAGATGCAACTTACGGCCATCTTTAAGAGAC
ACAGTGCAGAAGCAAAAAGCCCTGCAAGTGACCTCCTGTCTTTTGATTCCAACAAAATTGAAAGTGAGGAAGTCTATCATGGAACCATGG
AGGAGGACAAGCAACCAGAAATCTATCTCACAGCTACAGACCTCAAAAGGCTGATCAGCAAAGCACTAGAGGAAGAACAATCTTTGGATG
TGGGGACAATTCAGTTCACTGATGAAATTGCTGGATCACTGCCAGCCTTTGGTCCTGACACCCAATCAGAGCTGCCCACATCTTTTGCTG
TTATAACAGAGGATGCTACTTTGAGTCCAGAACTTCCTCCTGTTGAACCCCAGCTTGAGACAGTGGACGGAGCAGAGCATGGTCTACCTG
ACACTTCTTGGTCTCCACCTGCTATGGCCTCTACCTCCCTGTCAGAAGCTCCACCTTTCTTTATGGCATCAAGCATCTTCTCTCTGACTG
ATCAAGGCACCACAGATACAATGGCCACTGACCAGACAATGCTAGTACCAGGGCTCACCATCCCCACCAGTGATTATTCTGCAATCAGCC
AACTGGCTCTGGGAATTTCACATCCACCTGCATCTTCAGATGACAGCCGATCAAGTGCAGGTGGCGAAGATATGGTCAGACACCTAGATG
AAATGGATCTGTCTGACACTCCTGCCCCATCTGAGGTACCAGAGCTCAGCGAATATGTTTCTGTCCCAGATCATTTCTTGGAGGATACCA
CTCCTGTCTCAGCTTTACAGTATATCACCACTAGTTCTATGACCATTGCCCCCAAGGGCCGAGAGCTGGTAGTGTTCTTCAGTCTGCGTG
TTGCTAACATGGCCTTCTCCAACGACCTGTTCAACAAGAGCTCTCTGGAGTACCGAGCTCTGGAGCAACAATTCACACAGCTGCTGGTTC
CATATCTACGATCCAATCTTACAGGATTTAAGCAACTTGAAATACTTAACTTCAGAAACGGGAGTGTGATTGTGAATAGCAAAATGAAGT
TTGCTAAGTCAGTGCCGTATAACCTCACCAAGGCTGTGCACGGGGTCTTGGAGGATTTTCGTTCTGCTGCAGCCCAACAACTCCATCTGG
AAATAGACAGCTACTCTCTCAACATTGAACCAGCTGATCAAGCAGATCCCTGCAAGTTCCTGGCCTGCGGCGAATTTGCCCAATGTGTAA
AGAACGAACGGACTGAGGAAGCGGAGTGTCGCTGCAAACCAGGATATGACAGCCAGGGGAGCCTGGACGGTCTGGAACCAGGCCTCTGTG
GCCCTGGCACAAAGGAATGCGAGGTCCTCCAGGGAAAGGGAGCTCCATGCAGGTTGCCAGATCACTCTGAAAATCAAGCATACAAAACTA
GTGTTAAAAAGTTCCAAAATCAACAAAATAACAAGGTAATCAGTAAAAGAAATTCTGAATTACTGACCGTAGAATATGAAGAATTTAACC
ATCAAGATTGGGAAGGAAATTAAAAACTGAAAATGTACAATTATCATTTAGGCTATCTCAAGAGAGATGATTTGCCTTCTCAAGGAAAAT
GGAGACAGGCATATTCATGGGTCATCAAAATCCAGACATACAGTCAACACTGAGAATCAGCACACACCATATTTCAAATATAGAAGAGTC
ATGTACTTGGCAACCAGTAAATTCTGAAGAAAAAGACACTTACTTATTATTAAAACCCCAAATGCAATCAGCGAAACATATTTTTACTAT
TCTTGGATGATAGTCAAAATGATCATAAGCCAGGTTTGCTTCCACCTTCCCTGAAAATTTTACTCACAGATCATTTGCAACAAGCATAGC
TTACTTATTGTTTAGGGACTGAACAATTTATTGGGAAGCAAACTCTTTATATGCTAGAAAGTACATTTAAAAGATGACTACTTACGCAGG
GAGATGCAGGTCTCTCTAAACGCATGAATGTATGTAGTGTGTAGGCACTGTAGTGAGTGTATATATGCTCCACACTACGTCTGATAAACA
CAAACCTCAGTATTCAGTTATTAGGCACACTAGTTTTATACGCAACTACTGCTTACATAGTAGACTGTTTTGTTGCCAATAATCTTTGAA
TTGTTCTTTAAAAGAAACTGAGGTTCAGATACACATACCATGGAAAAATCTTACTTTTCTTGTTACTACACAAAGCTATTTTAAAGAAGA
TGCTATGTTGGGAGAAGGGCGAAGTTGTACTATATGACATAATCAATTCCTGTCTTCCACCACAGATGAACAATGTCTTCCTATAATAAC
TTCAGAATATTTCCTCACACCAACTTTAGTGTGTGTATACCTAGACTGGCATCAATGTAATCCAATTCAGTCCATTTTTTATGTGCTGCT
TAATGAAAATGAATCTGTCTCTATCTCTTTCAAATGTTCTAATATCAGATATATTTGCTACAAACCTTAATTTCAATAAAGTAAAAGTGA

>In-frame_ENST00000557364_ENST00000369950_TCGA-PE-A5DD-01A_CHD8_chr14_21894287_-_IMPG1_chr6_76744504_length(amino acids)=684AA_start in transcript=2018_stop in transcript=4072
MDRIPDTGEYQDWVSICQQETFCLFDIGKNFSNSQEHLDLLQQRIKQRSFPDRKDEISAEKTLGEPGETIVISTDVANVSLGPFPLTPDD
TLLNEILDNTLNDTKMPTTERETEFAVLEEQRVELSVSLVNQKFKAELADSQSPYYQELAGKSQLQMQKIFKKLPGFKKIHVLGFRPKKE
KDGSSSTEMQLTAIFKRHSAEAKSPASDLLSFDSNKIESEEVYHGTMEEDKQPEIYLTATDLKRLISKALEEEQSLDVGTIQFTDEIAGS
LPAFGPDTQSELPTSFAVITEDATLSPELPPVEPQLETVDGAEHGLPDTSWSPPAMASTSLSEAPPFFMASSIFSLTDQGTTDTMATDQT
MLVPGLTIPTSDYSAISQLALGISHPPASSDDSRSSAGGEDMVRHLDEMDLSDTPAPSEVPELSEYVSVPDHFLEDTTPVSALQYITTSS
MTIAPKGRELVVFFSLRVANMAFSNDLFNKSSLEYRALEQQFTQLLVPYLRSNLTGFKQLEILNFRNGSVIVNSKMKFAKSVPYNLTKAV
HGVLEDFRSAAAQQLHLEIDSYSLNIEPADQADPCKFLACGEFAQCVKNERTEEAECRCKPGYDSQGSLDGLEPGLCGPGTKECEVLQGK

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

Top

Fusion Gene PPI Analysis for CHD8-IMPG1

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
Hgene	CHD8	chr14:21894287	chr6:76744504	ENST00000399982	-	4	37	1789_2302	572.0	2582.0	FAM124B
Hgene	CHD8	chr14:21894287	chr6:76744504	ENST00000430710	-	5	38	1789_2302	293.0	2303.0	FAM124B
Hgene	CHD8	chr14:21894287	chr6:76744504	ENST00000557364	-	5	38	1789_2302	572.0	2582.0	FAM124B

- 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 CHD8-IMPG1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

Related Diseases for CHD8-IMPG1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CHD8	C1510586	Autism Spectrum Disorders	8	CLINGEN;CTD_human
Hgene	CHD8	C3554373	AUTISM, SUSCEPTIBILITY TO, 18	3	GENOMICS_ENGLAND;UNIPROT
Hgene	CHD8	C0004352	Autistic Disorder	2	CTD_human;GENOMICS_ENGLAND
Hgene	CHD8	C0221355	Macrocephaly	2	CTD_human
Hgene	CHD8	C0017178	Gastrointestinal Diseases	1	CTD_human
Hgene	CHD8	C0020796	Profound Mental Retardation	1	CTD_human
Hgene	CHD8	C0025363	Mental Retardation, Psychosocial	1	CTD_human
Hgene	CHD8	C0282631	Facies	1	CTD_human
Hgene	CHD8	C0559031	Functional Gastrointestinal Disorders	1	CTD_human
Hgene	CHD8	C0917816	Mental deficiency	1	CTD_human
Hgene	CHD8	C1565321	Cholera Infantum	1	CTD_human
Hgene	CHD8	C3714756	Intellectual Disability	1	CTD_human
Tgene	IMPG1	C1842914	Adult-Onset Vitelliform Macular Dystrophy	1	CTD_human;ORPHANET
Tgene	IMPG1	C4015342	MACULAR DYSTROPHY, VITELLIFORM, 4	1	GENOMICS_ENGLAND;UNIPROT