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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:SMDT1-NFAM1 (FusionGDB2 ID:84043)

Fusion Gene Summary for SMDT1-NFAM1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMDT1-NFAM1
Fusion gene ID: 84043
HgeneTgene
Gene symbol

SMDT1

NFAM1

Gene ID

91689

150372

Gene namesingle-pass membrane protein with aspartate rich tail 1NFAT activating protein with ITAM motif 1
SynonymsC22orf32|DDDD|EMRECNAIP
Cytomap

22q13.2

22q13.2

Type of geneprotein-codingprotein-coding
Descriptionessential MCU regulator, mitochondrialUPF0466 protein C22orf32, mitochondrialsingle-pass membrane protein with aspartate-rich tail 1, mitochondrialNFAT activation molecule 1calcineurin/NFAT-activating ITAM-containing protein
Modification date2020031320200313
UniProtAcc

Q9H4I9

Q8NET5

Ensembl transtripts involved in fusion geneENST00000331479, ENST00000329021, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 3 X 4=48
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMDT1 [Title/Abstract] AND NFAM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSMDT1(42475958)-NFAM1(42783084), # 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
TgeneNFAM1

GO:0007165

signal transduction

12615919

TgeneNFAM1

GO:0035556

intracellular signal transduction

12615919

TgeneNFAM1

GO:0051091

positive regulation of DNA-binding transcription factor activity

12615919


check buttonFusion gene breakpoints across SMDT1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across NFAM1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-44-6147-01ASMDT1chr22

42475958

+NFAM1chr22

42783084

-


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Fusion Gene ORF analysis for SMDT1-NFAM1

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
In-frameENST00000331479ENST00000329021SMDT1chr22

42475958

+NFAM1chr22

42783084

-

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)
ENST00000331479SMDT1chr2242475958+ENST00000329021NFAM1chr2242783084-516126010392100353

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
ENST00000331479ENST00000329021SMDT1chr2242475958+NFAM1chr2242783084-0.437064080.56293595

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Fusion Genomic Features for SMDT1-NFAM1


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.
genomic feature

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 SMDT1-NFAM1


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/chr22:42475958/chr22:42783084)
- 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
SMDT1

Q9H4I9

NFAM1

Q8NET5

FUNCTION: Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria (PubMed:24231807, PubMed:26774479, PubMed:27099988). Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU (PubMed:24231807). Plays a central role in regulating the uniplex complex response to intracellular calcium signaling (PubMed:27099988). Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling (PubMed:27099988). {ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:26774479, ECO:0000269|PubMed:27099988}.FUNCTION: May function in immune system as a receptor which activates via the calcineurin/NFAT-signaling pathway the downstream cytokine gene promoters. Activates the transcription of IL-13 and TNF-alpha promoters. May be involved in the regulation of B-cell, but not T-cell, development. Overexpression activates downstream effectors without ligand binding or antibody cross-linking. {ECO:0000269|PubMed:12615919, ECO:0000269|PubMed:15143214}.

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
HgeneSMDT1chr22:42475958chr22:42783084ENST00000331479+1353_6462410.0Topological domainMitochondrial matrix

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMDT1chr22:42475958chr22:42783084ENST00000331479+13102_10762410.0Compositional biasPoly-Asp
HgeneSMDT1chr22:42475958chr22:42783084ENST00000331479+1381_8562410.0MotifGXXXX[G/A/S]
HgeneSMDT1chr22:42475958chr22:42783084ENST00000331479+1385_10762410.0Topological domainMitochondrial intermembrane
HgeneSMDT1chr22:42475958chr22:42783084ENST00000331479+1365_8462410.0TransmembraneHelical
TgeneNFAM1chr22:42475958chr22:42783084ENST0000032902136209_237221271.0DomainITAM
TgeneNFAM1chr22:42475958chr22:42783084ENST000003290213650_150221271.0DomainNote=Ig-like V-type
TgeneNFAM1chr22:42475958chr22:42783084ENST0000032902136185_270221271.0Topological domainCytoplasmic
TgeneNFAM1chr22:42475958chr22:42783084ENST000003290213643_163221271.0Topological domainExtracellular
TgeneNFAM1chr22:42475958chr22:42783084ENST0000032902136164_184221271.0TransmembraneHelical


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Fusion Gene Sequence for SMDT1-NFAM1


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.
>84043_84043_1_SMDT1-NFAM1_SMDT1_chr22_42475958_ENST00000331479_NFAM1_chr22_42783084_ENST00000329021_length(transcript)=5161nt_BP=260nt
GCTTTCTTCCCGAGGGCGGCACGAGGGCTGGGCGGTGGGGTGCGGGTGCCCGGGTGAGGGGCGGAGCTGGGGGCATGGCGTCCGGAGCGG
CTCGCTGGCTAGTATTGGCACCCGTCAGGTCCGGGGCTCTCCGGAGCGGGCCTAGCTTGAGGAAAGATGGCGATGTCTCCGCCGCATGGA
GCGGCTCAGGCCGGAGCCTGGTACCGTCGAGGTCAGTCATCGTTACCCGCAGCGGCGCCATTTTGCCCAAACCGGTGAAAGCTCTGCAGC
GCCGCGAGACCGAGGTCTATGCCTGCATCGAGAATGAGGATGGCAGCTCACCCACCGCCAAGCAGAGCCCCCTCTCCCAGGAGAGACCGC
ATAGATTCGAAGATGATGGCGAACTTAACCTGGTCTATGAAAATCTCTAGGATGGGCTCCACCGCTCATAGAGCTTGCCCTGGGTCAGAG
GACCGGGGCAGCCCCTGCCACCAAAGGACTTGATCTGAGTTGGGAGTAAGGCCCCCAGGGACACCCCATCATTTCACCCTCACATTCAAG
GCCCTTCCTGTCTTGGCCGGCCCCACTGCCCCCCCATTCTATGCCCCAACCACCAAGGCTTTCCCATCTTGGGGCCTTTGCCCAGGCTGT
TCCTTCTGCCAGGCAGGCCCTTCCTCCCTTGGCCCAACCAGCAAAGCGCCCCTCAGTCTTCAAGGGCTTTCCTGGATGCCACCCTTGCCC
AGAGCCCTGCTCACTGCCTCATGCTGACAGAGCAGCATGCTCTCTTGGCACCAGCCTGCACCTCAGCCAGTAGGGCAGCCTCTGAGCTGA
GGGAGGACCCTGCAGGGGCGCCTAGCAGTGCTGTGTGGGGAGCCGAGGTATGGAGGAGCTGGGGAGCAGCTATGCAAATCCCTACCTACC
CAGCTGGGCCAGAGGCACGAGGCAGCCAGGCAGGGTGGGAGCAGGGGCTGGCGTGGGAGGTCTGGGGGACAGACAAGGATGATGGACCCC
TCAGAGGCAAGACTAGGATCAGGGACAGATCTGGAGGCCCAGGACATGGCTGAGAGGTGGTCAGCAGGCTGGGGGCATGGAGCAGAGAGG
GCTTGGGTACAAGCTGGAGAGGAAGGAGATTCTGGCATGTTGGGGTGAGGGCAGAGGGACAGATGAGGGGAGGAGGGTGCTGGCTAAACA
GGAACTGAATGAATGGCCTGAAGCTCCCTCTCCCAAGGGTTCCCACTCCCATTGGCCTGGCCCTGTACGTGCACTCTGTCATCTCCTTGG
TCACCCTCTGCTCCAGGCCTTCTCCACCACAGGACCTCAGCTGTCCCTCCTTCTACCCAAGGTGGAGTCCCCCAAAGTCCCTTCTGTCTG
GCCTATCCTGTGCCCACCACCTGTGGCTTCATCCAGCCCTCCTCCTCTATCTTTATCTGCCATAGGCCGCAGCCCTGGCCCCCTGTGGAT
TGAGGTCCCAAGTGGTCCAGCTGTGGGGTTTGGTGCTGGGACCCTCAATGGCAGCCGGAAGGTCCCTCTGAGGCAGAAGCTCAAGCCCCA
TGGGGACAGTGGCTCCCCAGTGCCTGGCCCTGAGCCATTTCTGCTGTTTCAGGTGCCCACATCACCCTCATTTCCTCCTCGCAGTAGCCC
TGCACCGTGGCCAGAAACCCATCCACAGGCAGGCAGTGGCTGGGGTCCGGGTGCCCCGGGCTGTTGGGCTCTGCTTCCTCCCTCTGCTCC
CCCATGTCTCCCTGAGTTCTCCCACCTTTGCTCATTTGTAAAATGGGCAGGTCAATCTTCCCACCCCACCGTGTGGGCTGCCCCAACCCC
AAATGTGCCCAGGGAGGGGGGGGAACCCAAGGCACAGGCCCCGCCCCTGCCCCCAAGCAGCACTGGGCTACTGGCTCACAGAAGCACCTT
TGGTTCTGCAGGTCATGCCCCTCCCTGCAGGGAAGGGAAAGCTGGTGGTAGAGGCTGGGCACAGACTGACGTCCAGAAGAAGTCCCTTGG
CCCTGCTAGGGTGGCACCAGACTTCTCTGGTCCCACAGGACAGCCAGTGGCCTCCCAACTTGGTTCTGGGCCCCCGCCTGCAAGCACACA
TGGCAAGGAGGGCTTTAGCAGGCTCACATAACCGAGTGGCAAGGCCCCTGCTCCCAGAGGCTGGATTTGAATGAACTCCGGGCCTGTTTG
GGGAGGTGAAGCTGCCAGGTGTGCACAGGGGCCTCCCAGGCTCCTGGCTCCACCAGCCAAGGAGGTGGGGGCAAGGGTCAGGGCAATGGG
GGACAATGCCGCTCAGGGTGCAGTGAGCTCCCCTGGGAAAACCGAAGCCAGCAAGACCAGGAGAGGGCCACCTCACTGGGCCTGCCTCCC
CCACCTCCTGGGCCTCTCTGACCTCAGCTCCTAGACCCTGGACCCTTGGCTGGGACTCAGCATTTTCCAGTCTTTTTCAGGGGTAGACAG
GGGAGCCTGGGTTAAACTTTACCACTGTGCCCTGGCCCAGGCATCACCAACACGGCCTCCCTGCAGCTGCCCTGCCACCGACAGACCCCG
ATTAAACCCACACCTGGCCTTGGCCTCCCCTGCTCTATACCTTGCATGGTTTTTGCCTCACTTGGAATAAAATTCCAACTCCTCCCTGTG
GCGTAGGAGGTTCTTGGGGGCTGACCCATCACCCCTCTGGTGGACAGAGACATTGCCAGCGTGGTGGTCGTCTGTGCTTGGTTCAGGGCA
AGGCTGGGAGGCAGTGGGTGCTGAGGTCTTCAGTGAGCAAGGAGAGAGGCAGGGAGGAGGAGGAGGAGGAGGAGAGCACAGCATGAAAGG
ACGGGACCCTAAAGGGCTTTGGCCCAAGGGAGGGTGGGGCAAGAATGTTCTGAGACTTCTGTGGGCAGCAAAGAGGACTGAGCACCTGTT
CTCCAGCCCCCAGGACTGAGAGCCTGCAGAGACAAGCTGGCACAGGGCGAGGGGTGGCAGGGAACTTCAGGGTGGGAGGTGCATGGGGCA
GGCGGGAGGAGGAAGAACAGAGAGGGGACAGAGAGGGTATGAATGGGAGCTCCTGGGGTGCAGGCTTGCTTTCCACTATGAATGGGTGGA
GGAGGGAAGAGAAGAAAATTGCTTTTGAGACCCACCCAGGCTGGGTGGCCTCAGGGCCTCCCTTGAATCCCTGCTCCACCTCCCACAGCC
TTGTGGACTTGGGCAAGTCACTGGCCACCTGAGCCTCAGTTTGCAGTGACAGTCAAGACAGCTCAGGCCAGGCGTAGTGGCTTATGCCTG
TAATCCCAGCATGTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCT
CTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTCGAGAGGCTAAGGCAGGAGAATCTCTTGAAC
CTGGGAGACAGAGGTTGCAGTGAGCCGAAGTGGCACCACTGCACACCAGCCTGGGCTACAGAGCACGCTCTGTCCAAATAAACAAACAAA
CAAACACTACTCAGTGTCTCAGAAAGGACAGAAGGGGACTCCCTGGCTCAGGCAGAAGCTCAGTGGGTGTGCATTTCCTTCAAGACTCGT
CCTTCAGAAGGAATAGGCTTCTGGGGCAGTACAGAGGAGTCTAAGTGAGAGGCAGGCCTCCCTGGGAGCTGGGCCCAGGCTCTCTGCAGC
CATGCCTTTAAGGAGTGCCTACGGGGTAGCACGATCAGATGGACAGGCCAGGGCTGCCCAGAGCTGGGGGTGGGAGCAAGGTAAGCAGAG
AGGTGAGGGAAGGAGGGTGCTGGCTTAGCAGGAGCTGAATGAATGGGCCTGGAGGGGAAAAGCTAAGGGGGATGGGGTGGCTTGAGTGGA
GTAGGTGAGGCCTAGGTGAAGGGGAGCTGTGGACCTTCCAGGACGGACGGATGTGAGCAGTCCTGAGTGGGGACTGGAGTTAGGGTGGGG
AAGGGAAGCCCCAGGCAGCCCCTGCAGGCCCCTGCCCCTGGGCCCTACCGCAGCAGGGCAGCCCTGTCTCTGGGTCTCAGCTGATGCTTC
CCTCTGCCCACTGGCCCCTGACCTGGTGGGATTTCCCACCATCTCTCCCGGCCCAGCCTGCCCTGCCCTCCTAGGTCTTCCCAACCTCCC
CTCTGCAGAAACATCTCAGCCACGTCTGGCACCCCCAGGCATCCCTGCCTGCCTCTAGGAAGTTGACCCCTTCAATGGGTTTCAGCCTCC
AACCCCACCCCCGCTTGACTCCTGCTCTGTCAGCACTTGCTTGAGAAAATCATCCTGGGAAACCAGCTTCTGGGAGCAGGGGCCTTGCCA
CTCGGTTCTGCGAGCCTGCTGAAGCCCTCCTTGCCACGTGTGCTTGCAGGCGGGGGCCCAGAACTAAGCTAGGAGGCCACTGGCTGTCCT
GTGGGACCAGGGAAGTCTGGTGCCACCCTAGCAGAGGGCCCATGGACTTCTTCTGGAGGTCAGTCTGTGCCCAGCCTCTACCACCAGTCC
AGAACTTGCAGTGGGTGCGGTAAACGGTGGCCCCTCCTCAGCAAACATTTCCAGGGGATTCTGGCAGCAGAGTTTCCATGGGAACATGTG
CTGGTTCTGCGCTGAACCCGGTGTGGCTGGGGTTCCCTTCACAGCCAATATTGCAGGAACTGAGCCTGGTGGCCTCGGCCAGGGTAGGCA
GTGCTCTTTGGCCACCCAGTGTCACAAACCTGAACTCAAGTTACAGGCAAAACCTGCTTTTCCTTTTTCTTTCTCTCTCTCTCTCTTTTT
TTTTTTGTTAAAGCACATTCTAATGTAAAGTCCATGCTCCATTCTAAAGATGCCTCTGGGATTTCAGGGATGGATTTTTATGTAGTTCAA
TAGTTTTCTTGGCAGACAGCTTATGCAGGAGAGGTGGGCCGTTGGCTCAGTCCAGCCAGGCTGAGTGGCGTCACTCCATTCCTTGCAATG
CCAGGGGATGTCATTTGTCCACCTGAGGGGGCTTCCCCAGTCTCCCTTCCCTGACCTGTGGTCAGAATGATGGCCTCAGCCTTGACTGAG
CGCGGGTCAGGCCAGACTCTCTGAACTTGGTGTTGGCGTGTGTTTTGTGTGTGTCTGGAGGTGACATATGTGGGTGACAGAAGCATATGT

>84043_84043_1_SMDT1-NFAM1_SMDT1_chr22_42475958_ENST00000331479_NFAM1_chr22_42783084_ENST00000329021_length(amino acids)=353AA_BP=
MRGGQQAGGMEQRGLGYKLERKEILACWGEGRGTDEGRRVLAKQELNEWPEAPSPKGSHSHWPGPVRALCHLLGHPLLQAFSTTGPQLSL
LLPKVESPKVPSVWPILCPPPVASSSPPPLSLSAIGRSPGPLWIEVPSGPAVGFGAGTLNGSRKVPLRQKLKPHGDSGSPVPGPEPFLLF
QVPTSPSFPPRSSPAPWPETHPQAGSGWGPGAPGCWALLPPSAPPCLPEFSHLCSFVKWAGQSSHPTVWAAPTPNVPREGGEPKAQAPPL

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Fusion Gene PPI Analysis for SMDT1-NFAM1


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
HgeneSMDT1chr22:42475958chr22:42783084ENST00000331479+131_5262.0410.0MAIP1


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 SMDT1-NFAM1


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 SMDT1-NFAM1


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