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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FAM222B-CHD7 (FusionGDB2 ID:28965)

Fusion Gene Summary for FAM222B-CHD7

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM222B-CHD7
Fusion gene ID: 28965
HgeneTgene
Gene symbol

FAM222B

CHD7

Gene ID

55731

55636

Gene namefamily with sequence similarity 222 member Bchromodomain helicase DNA binding protein 7
SynonymsC17orf63CRG|HH5|IS3|KAL5
Cytomap

17q11.2

8q12.2

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM222Buncharacterized protein C17orf63chromodomain-helicase-DNA-binding protein 7ATP-dependent helicase CHD7CHARGE associationchromodomain helicase DNA binding protein 7 isoform CRA_e
Modification date2020031320200328
UniProtAcc

Q8WU58

Q9P2D1

Ensembl transtripts involved in fusion geneENST00000452648, ENST00000341217, 
ENST00000577682, ENST00000581381, 
ENST00000581407, ENST00000582059, 
ENST00000582266, ENST00000583522, 
ENST00000583953, 		ENST00000423902, 
ENST00000524602, ENST00000525508, 
ENST00000529472, 
Fusion gene scores* DoF score29 X 15 X 15=65259 X 5 X 6=270
# samples 439
** MAII scorelog2(43/6525*10)=-3.92356933675515
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/270*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM222B [Title/Abstract] AND CHD7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM222B(27139227)-CHD7(61653818), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across FAM222B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CHD7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUADTCGA-55-1595-01AFAM222Bchr17

27139227

-CHD7chr8

61653818

+


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Fusion Gene ORF analysis for FAM222B-CHD7

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-5UTRENST00000452648ENST00000423902FAM222Bchr17

27139227

-CHD7chr8

61653818

+
5UTR-intronENST00000452648ENST00000524602FAM222Bchr17

27139227

-CHD7chr8

61653818

+
5UTR-intronENST00000452648ENST00000525508FAM222Bchr17

27139227

-CHD7chr8

61653818

+
5UTR-intronENST00000452648ENST00000529472FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-5UTRENST00000341217ENST00000423902FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-5UTRENST00000577682ENST00000423902FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-5UTRENST00000581381ENST00000423902FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-5UTRENST00000581407ENST00000423902FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-5UTRENST00000582059ENST00000423902FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-5UTRENST00000582266ENST00000423902FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-5UTRENST00000583522ENST00000423902FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-5UTRENST00000583953ENST00000423902FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000341217ENST00000524602FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000341217ENST00000525508FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000341217ENST00000529472FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000577682ENST00000524602FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000577682ENST00000525508FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000577682ENST00000529472FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000581381ENST00000524602FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000581381ENST00000525508FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000581381ENST00000529472FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000581407ENST00000524602FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000581407ENST00000525508FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000581407ENST00000529472FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000582059ENST00000524602FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000582059ENST00000525508FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000582059ENST00000529472FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000582266ENST00000524602FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000582266ENST00000525508FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000582266ENST00000529472FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000583522ENST00000524602FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000583522ENST00000525508FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000583522ENST00000529472FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000583953ENST00000524602FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000583953ENST00000525508FAM222Bchr17

27139227

-CHD7chr8

61653818

+
intron-intronENST00000583953ENST00000529472FAM222Bchr17

27139227

-CHD7chr8

61653818

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FAM222B-CHD7


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
FAM222Bchr1727139226-CHD7chr861653817+0.019792290.98020774
FAM222Bchr1727139226-CHD7chr861653817+0.019792290.98020774

check buttonDistribution 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.

check buttonDistribution 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.
genomic feature of top 1%

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Fusion Protein Features for FAM222B-CHD7


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:27139227/:61653818)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM222B

Q8WU58

CHD7

Q9P2D1

FUNCTION: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. {ECO:0000269|PubMed:22646239}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for FAM222B-CHD7


check button 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.

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Fusion Gene PPI Analysis for FAM222B-CHD7


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for FAM222B-CHD7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FAM222B-CHD7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource