UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:SMC1A-NAV1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SMC1A-NAV1
FusionPDB ID: 83986
FusionGDB2.0 ID: 83986
HgeneTgene
Gene symbol

SMC1A

NAV1

Gene ID

8243

89796

Gene namestructural maintenance of chromosomes 1Aneuron navigator 1
SynonymsCDLS2|DXS423E|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCBPOMFIL3|STEERIN1|UNC53H1
Cytomap

Xp11.22

1q32.1

Type of geneprotein-codingprotein-coding
Descriptionstructural maintenance of chromosomes protein 1ASMC protein 1ASMC-1-alphaSMC1 (structural maintenance of chromosomes 1, yeast)-like 1epididymis secretory sperm binding proteinsegregation of mitotic chromosomes 1neuron navigator 1pore membrane and/or filament interacting like protein 3unc-53 homolog 1
Modification date2020032920200313
UniProtAcc.

Q8NEY1

Ensembl transtripts involved in fusion geneENST idsENST00000322213, ENST00000375340, 
ENST00000469129, 		ENST00000469130, 
ENST00000295624, ENST00000367295, 
ENST00000367296, ENST00000367297, 
ENST00000367300, ENST00000367302, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 9 X 5=36010 X 10 X 4=400
# samples 912
** MAII scorelog2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/400*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SMC1A [Title/Abstract] AND NAV1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SMC1A(53441707)-NAV1(201763672), # samples:1
Anticipated loss of major functional domain due to fusion event.SMC1A-NAV1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SMC1A-NAV1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneSMC1A

GO:0072423

response to DNA damage checkpoint signaling

11877377


check buttonFusion gene breakpoints across SMC1A (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 NAV1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-HU-A4GP-11ASMC1AchrX

53441707

-NAV1chr1

201763672

+


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000322213SMC1AchrX53441707-ENST00000367302NAV1chr1201763672+60925399222679585
ENST00000322213SMC1AchrX53441707-ENST00000367296NAV1chr1201763672+97265399312688585
ENST00000322213SMC1AchrX53441707-ENST00000295624NAV1chr1201763672+97225399222679585
ENST00000322213SMC1AchrX53441707-ENST00000367297NAV1chr1201763672+97315399312688585
ENST00000322213SMC1AchrX53441707-ENST00000367300NAV1chr1201763672+97225399222679585
ENST00000322213SMC1AchrX53441707-ENST00000367295NAV1chr1201763672+97175399222679585
ENST00000375340SMC1AchrX53441707-ENST00000367302NAV1chr1201763672+60184658482605585
ENST00000375340SMC1AchrX53441707-ENST00000367296NAV1chr1201763672+96524658572614585
ENST00000375340SMC1AchrX53441707-ENST00000295624NAV1chr1201763672+96484658482605585
ENST00000375340SMC1AchrX53441707-ENST00000367297NAV1chr1201763672+96574658572614585
ENST00000375340SMC1AchrX53441707-ENST00000367300NAV1chr1201763672+96484658482605585
ENST00000375340SMC1AchrX53441707-ENST00000367295NAV1chr1201763672+96434658482605585

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
ENST00000322213ENST00000367302SMC1AchrX53441707-NAV1chr1201763672+0.0039216560.9960783
ENST00000322213ENST00000367296SMC1AchrX53441707-NAV1chr1201763672+0.0015070960.99849284
ENST00000322213ENST00000295624SMC1AchrX53441707-NAV1chr1201763672+0.0015100540.99849
ENST00000322213ENST00000367297SMC1AchrX53441707-NAV1chr1201763672+0.0015065630.99849343
ENST00000322213ENST00000367300SMC1AchrX53441707-NAV1chr1201763672+0.0015100540.99849
ENST00000322213ENST00000367295SMC1AchrX53441707-NAV1chr1201763672+0.0015105780.9984894
ENST00000375340ENST00000367302SMC1AchrX53441707-NAV1chr1201763672+0.0038568140.99614316
ENST00000375340ENST00000367296SMC1AchrX53441707-NAV1chr1201763672+0.0014557510.9985442
ENST00000375340ENST00000295624SMC1AchrX53441707-NAV1chr1201763672+0.0014594380.9985405
ENST00000375340ENST00000367297SMC1AchrX53441707-NAV1chr1201763672+0.001455830.9985442
ENST00000375340ENST00000367300SMC1AchrX53441707-NAV1chr1201763672+0.0014594380.9985405
ENST00000375340ENST00000367295SMC1AchrX53441707-NAV1chr1201763672+0.0014599220.99854004

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>83986_83986_1_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000322213_NAV1_chr1_201763672_ENST00000295624_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_2_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000322213_NAV1_chr1_201763672_ENST00000367295_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_3_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000322213_NAV1_chr1_201763672_ENST00000367296_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_4_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000322213_NAV1_chr1_201763672_ENST00000367297_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_5_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000322213_NAV1_chr1_201763672_ENST00000367300_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_6_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000322213_NAV1_chr1_201763672_ENST00000367302_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_7_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000375340_NAV1_chr1_201763672_ENST00000295624_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_8_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000375340_NAV1_chr1_201763672_ENST00000367295_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_9_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000375340_NAV1_chr1_201763672_ENST00000367296_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_10_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000375340_NAV1_chr1_201763672_ENST00000367297_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_11_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000375340_NAV1_chr1_201763672_ENST00000367300_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

>83986_83986_12_SMC1A-NAV1_SMC1A_chrX_53441707_ENST00000375340_NAV1_chr1_201763672_ENST00000367302_length(amino acids)=585AA_BP=
MFHANEEEEPEKKEVSELRSELWEKEMKLTDIRLEALNSAHQLDQLRETMHNMQLEVDLLKAENDRLKVAPGPSSGSTPGQVPGSSALSS
PRRSLGLALTHSFGPSLADTDLSPMDGISTCGPKEEVTLRVVVRMPPQHIIKGDLKQQEFFLGCSKVSGKVDWKMLDEAVFQVFKDYISK
MDPASTLGLSTESIHGYSISHVKRVLDAEPPEMPPCRRGVNNISVSLKGLKEKCVDSLVFETLIPKPMMQHYISLLLKHRRLVLSGPSGT
GKTYLTNRLAEYLVERSGREVTEGIVSTFNMHQQSCKDLQLYLSNLANQIDRETGIGDVPLVILLDDLSEAGSISELVNGALTCKYHKCP
YIIGTTNQPVKMTPNHGLHLSFRMLTFSNNVEPANGFLVRYLRRKLVESDSDINANKEELLRVLDWVPKLWYHLHTFLEKHSTSDFLIGP
CFFLSCPIGIEDFRTWFIDLWNNSIIPYLQEGAKDGIKVHGQKAAWEDPVEWVRDTLPWPSAQQDQSKLYHLPPPTVGPHSIASPPEDRT

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

Top

Fusion Protein Functional Features


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/chrX:53441707/chr1:201763672)
- 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
.NAV1

Q8NEY1

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: May be involved in neuronal migration. {ECO:0000250}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMC1AchrX:53441707chr1:201763672ENST00000322213-325104_124137.01234.0Coiled coilOntology_term=ECO:0000255
HgeneSMC1AchrX:53441707chr1:201763672ENST00000322213-32532_39137.01234.0Nucleotide bindingATP
TgeneNAV1chrX:53441707chr1:201763672ENST000002956240291072_116301875.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST000002956240291303_136201875.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000295624029255_28001875.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000295624029731_75601875.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST000003672950271072_116301484.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST000003672950271303_136201484.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000367295027255_28001484.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000367295027731_75601484.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST000003672960301072_116301878.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST000003672960301303_136201878.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000367296030255_28001878.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000367296030731_75601878.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST000003672970291072_116301870.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST000003672970291303_136201870.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000367297029255_28001870.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000367297029731_75601870.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST000003673000281072_116301818.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST000003673000281303_136201818.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000367300028255_28001818.0Coiled coilOntology_term=ECO:0000255
TgeneNAV1chrX:53441707chr1:201763672ENST00000367300028731_75601818.0Coiled coilOntology_term=ECO:0000255

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMC1AchrX:53441707chr1:201763672ENST00000322213-325163_503137.01234.0Coiled coilOntology_term=ECO:0000255
HgeneSMC1AchrX:53441707chr1:201763672ENST00000322213-325660_935137.01234.0Coiled coilOntology_term=ECO:0000255
HgeneSMC1AchrX:53441707chr1:201763672ENST00000322213-325991_1068137.01234.0Coiled coilOntology_term=ECO:0000255
HgeneSMC1AchrX:53441707chr1:201763672ENST00000322213-3251128_1163137.01234.0Compositional biasNote=Ala/Asp-rich (DA-box)
HgeneSMC1AchrX:53441707chr1:201763672ENST00000322213-325515_629137.01234.0DomainNote=SMC hinge


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SMC1A
NAV1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to SMC1A-NAV1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to SMC1A-NAV1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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