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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:SLC39A7-RB1 (FusionGDB2 ID:82624)

Fusion Gene Summary for SLC39A7-RB1

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC39A7-RB1
Fusion gene ID: 82624
HgeneTgene
Gene symbol

SLC39A7

RB1

Gene ID

7922

5925

Gene namesolute carrier family 39 member 7RB transcriptional corepressor 1
SynonymsD6S115E|D6S2244E|H2-KE4|HKE4|KE4|RING5|ZIP7OSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110
Cytomap

6p21.32

13q14.2

Type of geneprotein-codingprotein-coding
Descriptionzinc transporter SLC39A7HLA class II region expressed gene KE4Ke4 gene, mouse, human homolog ofhistidine-rich membrane protein Ke4really interesting new gene 5 proteinsolute carrier family 39 (zinc transporter), member 7zrt-, Irt-like protein 7retinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblas
Modification date2020031320200329
UniProtAcc.

RB1CC1

Ensembl transtripts involved in fusion geneENST00000374675, ENST00000374677, 
ENST00000463972, ENST00000423043, 
ENST00000418477, ENST00000486338, 
ENST00000416369, ENST00000441854, 
ENST00000477713, ENST00000441953, 
ENST00000431735, ENST00000462670, 
ENST00000383214, ENST00000383213, 
ENST00000486373, ENST00000443773, 
ENST00000456261, ENST00000487655, 
ENST00000267163, ENST00000484879, 
Fusion gene scores* DoF score5 X 4 X 4=8013 X 16 X 11=2288
# samples 627
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(27/2288*10)=-3.08305573972756
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC39A7 [Title/Abstract] AND RB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLC39A7(33168715)-RB1(48954188), # 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
TgeneRB1

GO:0043550

regulation of lipid kinase activity

16286473

TgeneRB1

GO:0045892

negative regulation of transcription, DNA-templated

10783144|12065415|19223331

TgeneRB1

GO:2000679

positive regulation of transcription regulatory region DNA binding

25100735


check buttonFusion gene breakpoints across SLC39A7 (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 RB1 (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
ChimerDB4Non-CancerTCGA-BH-A0DP-11ASLC39A7chr6

33168715

+RB1chr13

48954188

+


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Fusion Gene ORF analysis for SLC39A7-RB1

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-3CDSENST00000374675ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
5UTR-intronENST00000374675ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
5UTR-3CDSENST00000374677ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
5UTR-intronENST00000374677ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000463972ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000463972ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000423043ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000423043ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000418477ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000418477ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000486338ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000486338ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000416369ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000416369ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000441854ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000441854ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000477713ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000477713ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000441953ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000441953ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000431735ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000431735ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000462670ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000462670ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000383214ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000383214ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000383213ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000383213ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000486373ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000486373ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000443773ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000443773ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000456261ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000456261ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-3CDSENST00000487655ENST00000267163SLC39A7chr6

33168715

+RB1chr13

48954188

+
intron-intronENST00000487655ENST00000484879SLC39A7chr6

33168715

+RB1chr13

48954188

+

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 SLC39A7-RB1


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)
SLC39A7chr633168715+RB1chr1348954188+0.99990759.25E-05
SLC39A7chr633168715+RB1chr1348954188+0.99990759.25E-05

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.

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Fusion Protein Features for SLC39A7-RB1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.RB1

RB1CC1

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.1594

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 SLC39A7-RB1


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 SLC39A7-RB1


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 SLC39A7-RB1


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 SLC39A7-RB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC39A7C0001768Agammaglobulinemia1GENOMICS_ENGLAND
TgeneRB1C0035335Retinoblastoma15CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneRB1C0006142Malignant neoplasm of breast3CGI;CTD_human
TgeneRB1C0149925Small cell carcinoma of lung3CGI;CTD_human;ORPHANET
TgeneRB1C0678222Breast Carcinoma3CGI;CTD_human
TgeneRB1C0751483Familial Retinoblastoma3CTD_human;ORPHANET
TgeneRB1C1257931Mammary Neoplasms, Human3CTD_human
TgeneRB1C1458155Mammary Neoplasms3CTD_human
TgeneRB1C4704874Mammary Carcinoma, Human3CTD_human
TgeneRB1C0029463Osteosarcoma2CTD_human;ORPHANET
TgeneRB1C2239176Liver carcinoma2CTD_human
TgeneRB1C0001624Adrenal Gland Neoplasms1CTD_human
TgeneRB1C0007097Carcinoma1CTD_human
TgeneRB1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneRB1C0007786Brain Ischemia1CTD_human
TgeneRB1C0014518Toxic Epidermal Necrolysis1CTD_human
TgeneRB1C0019207Hepatoma, Morris1CTD_human
TgeneRB1C0019208Hepatoma, Novikoff1CTD_human
TgeneRB1C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneRB1C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneRB1C0023904Liver Neoplasms, Experimental1CTD_human
TgeneRB1C0024667Animal Mammary Neoplasms1CTD_human
TgeneRB1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneRB1C0027627Neoplasm Metastasis1CTD_human
TgeneRB1C0027659Neoplasms, Experimental1CTD_human
TgeneRB1C0030297Pancreatic Neoplasm1CTD_human
TgeneRB1C0033578Prostatic Neoplasms1CTD_human
TgeneRB1C0036920Sezary Syndrome1CTD_human
TgeneRB1C0038325Stevens-Johnson Syndrome1CTD_human
TgeneRB1C0086404Experimental Hepatoma1CTD_human
TgeneRB1C0205696Anaplastic carcinoma1CTD_human
TgeneRB1C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneRB1C0205698Undifferentiated carcinoma1CTD_human
TgeneRB1C0205699Carcinomatosis1CTD_human
TgeneRB1C0206686Adrenocortical carcinoma1CTD_human
TgeneRB1C0238198Gastrointestinal Stromal Tumors1CTD_human
TgeneRB1C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneRB1C0346647Malignant neoplasm of pancreas1CTD_human
TgeneRB1C0376358Malignant neoplasm of prostate1CTD_human
TgeneRB1C0750887Adrenal Cancer1CTD_human
TgeneRB1C0917798Cerebral Ischemia1CTD_human
TgeneRB1C1257925Mammary Carcinoma, Animal1CTD_human
TgeneRB1C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
TgeneRB1C1368275Pigmented Basal Cell Carcinoma1CTD_human
TgeneRB1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneRB1C2608045Trilateral Retinoblastoma1GENOMICS_ENGLAND
TgeneRB1C2930974Acute erythroleukemia1CTD_human
TgeneRB1C2930975Acute erythroleukemia - M6a subtype1CTD_human
TgeneRB1C2930976Acute myeloid leukemia FAB-M61CTD_human
TgeneRB1C2930977Acute erythroleukemia - M6b subtype1CTD_human
TgeneRB1C3151302Chromosome 13q14 deletion syndrome1ORPHANET
TgeneRB1C3179349Gastrointestinal Stromal Sarcoma1CTD_human
TgeneRB1C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
TgeneRB1C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
TgeneRB1C4721806Carcinoma, Basal Cell1CTD_human