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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:FAM49B-NDRG1 (FusionGDB2 ID:28993)

Fusion Gene Summary for FAM49B-NDRG1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM49B-NDRG1
Fusion gene ID: 28993
HgeneTgene
Gene symbol

FAM49B

NDRG1

Gene ID

51571

10397

Gene nameCYFIP related Rac1 interactor BN-myc downstream regulated 1
SynonymsBM-009|CYRI|CYRI-B|FAM49B|L1CAP43|CMT4D|DRG-1|DRG1|GC4|HMSNL|NDR1|NMSL|PROXY1|RIT42|RTP|TARG1|TDD5
Cytomap

8q24.21

8q24.22

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM49BFAM49B/JPH1 fusionMTSS1/FAM49B fusionfamily with sequence similarity 49 member Bprotein NDRG1N-myc downstream-regulated gene 1 proteindifferentiation-related gene 1 proteinnickel-specific induction protein Cap43protein regulated by oxygen-1reducing agents and tunicamycin-responsive protein
Modification date2020031320200328
UniProtAcc.

Q92597

Ensembl transtripts involved in fusion geneENST00000519824, ENST00000522746, 
ENST00000523509, ENST00000401979, 
ENST00000519110, ENST00000522250, 
ENST00000517654, ENST00000519540, 
ENST00000522941, ENST00000518879, 
ENST00000323851, ENST00000354944, 
ENST00000521414, ENST00000537882, 
ENST00000414097, ENST00000518176, 
ENST00000522476, ENST00000518066, 
Fusion gene scores* DoF score30 X 20 X 14=840024 X 17 X 10=4080
# samples 3726
** MAII scorelog2(37/8400*10)=-4.50479215203717
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/4080*10)=-3.9719856238304
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM49B [Title/Abstract] AND NDRG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM49B(131028615)-NDRG1(134276895), # 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 FAM49B (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 NDRG1 (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-Cancer61NFAM49Bchr8

131028615

-NDRG1chr8

134276895

-


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Fusion Gene ORF analysis for FAM49B-NDRG1

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
intron-3CDSENST00000519824ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000519824ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519824ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519824ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519824ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519824ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-5UTRENST00000519824ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519824ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000522746ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000522746ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522746ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522746ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522746ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522746ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-5UTRENST00000522746ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522746ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-3CDSENST00000523509ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-3CDSENST00000523509ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000523509ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000523509ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000523509ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000523509ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-5UTRENST00000523509ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000523509ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-3CDSENST00000401979ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-3CDSENST00000401979ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000401979ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000401979ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000401979ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000401979ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-5UTRENST00000401979ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000401979ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000519110ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000519110ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519110ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519110ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519110ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519110ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-5UTRENST00000519110ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519110ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000522250ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000522250ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522250ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522250ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522250ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522250ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-5UTRENST00000522250ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522250ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-3CDSENST00000517654ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-3CDSENST00000517654ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000517654ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000517654ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000517654ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000517654ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-5UTRENST00000517654ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000517654ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000519540ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000519540ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519540ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519540ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519540ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519540ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-5UTRENST00000519540ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000519540ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000522941ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-3CDSENST00000522941ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522941ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522941ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522941ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522941ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-5UTRENST00000522941ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
intron-intronENST00000522941ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-3CDSENST00000518879ENST00000323851FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-3CDSENST00000518879ENST00000354944FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000518879ENST00000521414FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000518879ENST00000537882FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000518879ENST00000414097FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000518879ENST00000518176FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-5UTRENST00000518879ENST00000522476FAM49Bchr8

131028615

-NDRG1chr8

134276895

-
5UTR-intronENST00000518879ENST00000518066FAM49Bchr8

131028615

-NDRG1chr8

134276895

-

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 FAM49B-NDRG1


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)

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 FAM49B-NDRG1


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
.NDRG1

Q92597

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.FUNCTION: Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy. {ECO:0000269|PubMed:15247272, ECO:0000269|PubMed:15377670, ECO:0000269|PubMed:17786215, ECO:0000269|PubMed:9766676}.

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 FAM49B-NDRG1


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 FAM49B-NDRG1


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 FAM49B-NDRG1


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 FAM49B-NDRG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNDRG1C0027627Neoplasm Metastasis2CTD_human
TgeneNDRG1C1832334CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneNDRG1C0004114Astrocytoma1CTD_human
TgeneNDRG1C0006142Malignant neoplasm of breast1CTD_human
TgeneNDRG1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneNDRG1C0007134Renal Cell Carcinoma1CTD_human
TgeneNDRG1C0017636Glioblastoma1CTD_human
TgeneNDRG1C0022665Kidney Neoplasm1CTD_human
TgeneNDRG1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneNDRG1C0023903Liver neoplasms1CTD_human
TgeneNDRG1C0025202melanoma1CTD_human
TgeneNDRG1C0026640Mouth Neoplasms1CTD_human
TgeneNDRG1C0029295Oropharyngeal Neoplasms1CTD_human
TgeneNDRG1C0033578Prostatic Neoplasms1CTD_human
TgeneNDRG1C0149925Small cell carcinoma of lung1CTD_human
TgeneNDRG1C0153381Malignant neoplasm of mouth1CTD_human
TgeneNDRG1C0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneNDRG1C0206658Smooth Muscle Tumor1CTD_human
TgeneNDRG1C0206734Hemangioblastoma1CTD_human
TgeneNDRG1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneNDRG1C0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneNDRG1C0280785Diffuse Astrocytoma1CTD_human
TgeneNDRG1C0334579Anaplastic astrocytoma1CTD_human
TgeneNDRG1C0334580Protoplasmic astrocytoma1CTD_human
TgeneNDRG1C0334581Gemistocytic astrocytoma1CTD_human
TgeneNDRG1C0334582Fibrillary Astrocytoma1CTD_human
TgeneNDRG1C0334583Pilocytic Astrocytoma1CTD_human
TgeneNDRG1C0334588Giant Cell Glioblastoma1CTD_human
TgeneNDRG1C0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneNDRG1C0345904Malignant neoplasm of liver1CTD_human
TgeneNDRG1C0376358Malignant neoplasm of prostate1CTD_human
TgeneNDRG1C0547065Mixed oligoastrocytoma1CTD_human
TgeneNDRG1C0678222Breast Carcinoma1CTD_human
TgeneNDRG1C0740457Malignant neoplasm of kidney1CTD_human
TgeneNDRG1C0750935Cerebral Astrocytoma1CTD_human
TgeneNDRG1C0750936Intracranial Astrocytoma1CTD_human
TgeneNDRG1C0751692Multiple Hemangioblastomas1CTD_human
TgeneNDRG1C0887833Carcinoma, Pancreatic Ductal1CTD_human
TgeneNDRG1C1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneNDRG1C1257931Mammary Neoplasms, Human1CTD_human
TgeneNDRG1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneNDRG1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneNDRG1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneNDRG1C1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneNDRG1C1458155Mammary Neoplasms1CTD_human
TgeneNDRG1C1621958Glioblastoma Multiforme1CTD_human
TgeneNDRG1C1704230Grade I Astrocytoma1CTD_human
TgeneNDRG1C2349952Oropharyngeal Carcinoma1CTD_human
TgeneNDRG1C4704874Mammary Carcinoma, Human1CTD_human