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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:SMCHD1-NDC80

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SMCHD1-NDC80
FusionPDB ID: 84030
FusionGDB2.0 ID: 84030
HgeneTgene
Gene symbol

SMCHD1

NDC80

Gene ID

23347

10403

Gene namestructural maintenance of chromosomes flexible hinge domain containing 1NDC80 kinetochore complex component
SynonymsBAMS|FSHD2HEC|HEC1|HsHec1|KNTC2|TID3|hsNDC80
Cytomap

18p11.32

18p11.32

Type of geneprotein-codingprotein-coding
Descriptionstructural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1kinetochore protein NDC80 homologNDC80 homolog, kinetochore complex componentNDC80 kinetochore complex component homologhighly expressed in cancer proteinhighly expressed in cancer, rich in leucine heptad repeatskinetochore associated 2kinetochore p
Modification date2020031320200327
UniProtAcc.

O14777

Ensembl transtripts involved in fusion geneENST idsENST00000261598, ENST00000320876, 
ENST00000609587, 		ENST00000261597, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 9 X 6=3243 X 8 X 5=120
# samples 118
** MAII scorelog2(11/324*10)=-1.55849028935997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SMCHD1 [Title/Abstract] AND NDC80 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SMCHD1(2656260)-NDC80(2601395), # samples:3
Anticipated loss of major functional domain due to fusion event.SMCHD1-NDC80 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.
SMCHD1-NDC80 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.
SMCHD1-NDC80 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.
SMCHD1-NDC80 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
HgeneSMCHD1

GO:0009048

dosage compensation by inactivation of X chromosome

23542155


check buttonFusion gene breakpoints across SMCHD1 (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 NDC80 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4BLCATCGA-ZF-A9RD-01ASMCHD1chr18

2656260

-NDC80chr18

2599018

+
ChimerDB4BLCATCGA-ZF-A9RDSMCHD1chr18

2656260

+NDC80chr18

2599018

+
ChimerDB4LUADTCGA-62-A46U-01ASMCHD1chr18

2688745

-NDC80chr18

2585112

+
ChimerDB4LUADTCGA-62-A46U-01ASMCHD1chr18

2688745

+NDC80chr18

2585112

+
ChimerDB4LUADTCGA-62-A46USMCHD1chr18

2688745

+NDC80chr18

2585111

+
ChimerDB4SARCTCGA-IF-A4AJ-01ASMCHD1chr18

2732490

-NDC80chr18

2599018

+
ChimerDB4UCECTCGA-2E-A9G8-01ASMCHD1chr18

2656259

+NDC80chr18

2601394

+
ChimerDB4UCECTCGA-2E-A9G8-01ASMCHD1chr18

2656260

-NDC80chr18

2601395

+
ChimerDB4UCECTCGA-2E-A9G8-01ASMCHD1chr18

2656260

+NDC80chr18

2601395

+
ChimerDB4UCECTCGA-2E-A9G8-01ASMCHD1chr18

2656260

+NDC80chr18

2606414

+
ChimerDB4UCECTCGA-2E-A9G8SMCHD1chr18

2656260

+NDC80chr18

2601395

+
ChimerDB4UCECTCGA-2E-A9G8SMCHD1chr18

2656260

+NDC80chr18

2606414

+


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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)
ENST00000320876SMCHD1chr182688745+ENST00000261597NDC80chr182585111+262212113142560748
ENST00000261598SMCHD1chr182688745+ENST00000261597NDC80chr182585111+247310621652411748
ENST00000320876SMCHD1chr182688745+ENST00000261597NDC80chr182585112+262212113142560748
ENST00000261598SMCHD1chr182688745+ENST00000261597NDC80chr182585112+247310621652411748
ENST00000320876SMCHD1chr182732490-ENST00000261597NDC80chr182599018+4383361431443211335
ENST00000261598SMCHD1chr182732490-ENST00000261597NDC80chr182599018+4234346516541721335

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
ENST00000320876ENST00000261597SMCHD1chr182688745+NDC80chr182585111+0.0005154430.99948454
ENST00000261598ENST00000261597SMCHD1chr182688745+NDC80chr182585111+0.0005760810.999424
ENST00000320876ENST00000261597SMCHD1chr182688745+NDC80chr182585112+0.0005154430.99948454
ENST00000261598ENST00000261597SMCHD1chr182688745+NDC80chr182585112+0.0005760810.999424
ENST00000320876ENST00000261597SMCHD1chr182732490-NDC80chr182599018+0.0001231480.99987686
ENST00000261598ENST00000261597SMCHD1chr182732490-NDC80chr182599018+0.0001138590.99988616

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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

>84030_84030_1_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000261598_NDC80_chr18_2585111_ENST00000261597_length(amino acids)=748AA_BP=299
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKL
KDLFNVDAFKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECET
IKQENTRLQNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKG
YDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEE
DEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEEC

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

>84030_84030_2_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000261598_NDC80_chr18_2585112_ENST00000261597_length(amino acids)=748AA_BP=299
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKL
KDLFNVDAFKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECET
IKQENTRLQNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKG
YDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEE
DEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEEC

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

>84030_84030_3_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000320876_NDC80_chr18_2585111_ENST00000261597_length(amino acids)=748AA_BP=299
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKL
KDLFNVDAFKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECET
IKQENTRLQNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKG
YDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEE
DEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEEC

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

>84030_84030_4_SMCHD1-NDC80_SMCHD1_chr18_2688745_ENST00000320876_NDC80_chr18_2585112_ENST00000261597_length(amino acids)=748AA_BP=299
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKL
KDLFNVDAFKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECET
IKQENTRLQNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKG
YDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEE
DEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEEC

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

>84030_84030_5_SMCHD1-NDC80_SMCHD1_chr18_2732490_ENST00000261598_NDC80_chr18_2599018_ENST00000261597_length(amino acids)=1335AA_BP=1100
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHY
YIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDD
PCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLE
LKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLP
LFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAG
TPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNAD
TYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKG
PVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYV
VDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQ
MYDEGEREINITSALAEKIKIETQLAEYHKLARKLKLIPKGAENSKGYDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALN
KKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEEDEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLV

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

>84030_84030_6_SMCHD1-NDC80_SMCHD1_chr18_2732490_ENST00000320876_NDC80_chr18_2599018_ENST00000261597_length(amino acids)=1335AA_BP=1100
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDV
HELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHY
YIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDD
PCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLE
LKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLP
LFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAG
TPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNAD
TYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKG
PVNSCQGKNYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYV
VDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQ
MYDEGEREINITSALAEKIKIETQLAEYHKLARKLKLIPKGAENSKGYDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALN
KKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEEDEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLV

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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/chr18:2656260/chr18:2601395)
- 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
.NDC80

O14777

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: Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:9315664, PubMed:12351790, PubMed:14654001, PubMed:14699129, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:16732327). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spindle microtubules (PubMed:25743205, PubMed:23891108). {ECO:0000269|PubMed:12351790, ECO:0000269|PubMed:14654001, ECO:0000269|PubMed:14699129, ECO:0000269|PubMed:15062103, ECO:0000269|PubMed:15235793, ECO:0000269|PubMed:15239953, ECO:0000269|PubMed:15548592, ECO:0000269|PubMed:16732327, ECO:0000269|PubMed:23085020, ECO:0000269|PubMed:23891108, ECO:0000269|PubMed:25743205, ECO:0000269|PubMed:9315664}.

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
HgeneSMCHD1chr18:2732490chr18:2599018ENST00000261598-2546111_7021092.01918.0RegionATPase activity domain
HgeneSMCHD1chr18:2732490chr18:2599018ENST00000320876-2548111_7021092.02006.0RegionATPase activity domain
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117458_642458.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017458_642407.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117458_642458.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517261_403193.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517458_642193.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517261_403193.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517458_642193.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017458_642407.0643.0Coiled coilOntology_term=ECO:0000255

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMCHD1chr18:2656259chr18:2601394ENST00000261598+1461720_184762.01918.0DomainSMC hinge
HgeneSMCHD1chr18:2656259chr18:2601394ENST00000320876+1481720_184762.02006.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2599018ENST00000261598+1461720_184762.01918.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2599018ENST00000320876+1481720_184762.02006.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2601395ENST00000261598+1461720_184762.01918.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2601395ENST00000320876+1481720_184762.02006.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2606414ENST00000261598+1461720_184762.01918.0DomainSMC hinge
HgeneSMCHD1chr18:2656260chr18:2606414ENST00000320876+1481720_184762.02006.0DomainSMC hinge
HgeneSMCHD1chr18:2688745chr18:2585111ENST00000261598+7461720_1847291.01918.0DomainSMC hinge
HgeneSMCHD1chr18:2688745chr18:2585111ENST00000320876+7481720_1847291.02006.0DomainSMC hinge
HgeneSMCHD1chr18:2688745chr18:2585112ENST00000261598+7461720_1847291.01918.0DomainSMC hinge
HgeneSMCHD1chr18:2688745chr18:2585112ENST00000320876+7481720_1847291.02006.0DomainSMC hinge
HgeneSMCHD1chr18:2732490chr18:2599018ENST00000261598-25461720_18471092.01918.0DomainSMC hinge
HgeneSMCHD1chr18:2732490chr18:2599018ENST00000320876-25481720_18471092.02006.0DomainSMC hinge
HgeneSMCHD1chr18:2656259chr18:2601394ENST00000261598+146111_70262.01918.0RegionATPase activity domain
HgeneSMCHD1chr18:2656259chr18:2601394ENST00000320876+148111_70262.02006.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2599018ENST00000261598+146111_70262.01918.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2599018ENST00000320876+148111_70262.02006.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2601395ENST00000261598+146111_70262.01918.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2601395ENST00000320876+148111_70262.02006.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2606414ENST00000261598+146111_70262.01918.0RegionATPase activity domain
HgeneSMCHD1chr18:2656260chr18:2606414ENST00000320876+148111_70262.02006.0RegionATPase activity domain
HgeneSMCHD1chr18:2688745chr18:2585111ENST00000261598+746111_702291.01918.0RegionATPase activity domain
HgeneSMCHD1chr18:2688745chr18:2585111ENST00000320876+748111_702291.02006.0RegionATPase activity domain
HgeneSMCHD1chr18:2688745chr18:2585112ENST00000261598+746111_702291.01918.0RegionATPase activity domain
HgeneSMCHD1chr18:2688745chr18:2585112ENST00000320876+748111_702291.02006.0RegionATPase activity domain
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117261_403458.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017261_403407.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117261_403458.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217261_403488.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217458_642488.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017261_403407.0643.0Coiled coilOntology_term=ECO:0000255
TgeneNDC80chr18:2656259chr18:2601394ENST0000026159711171_250458.0643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2656260chr18:2599018ENST0000026159710171_250407.0643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2656260chr18:2601395ENST0000026159711171_250458.0643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2656260chr18:2606414ENST0000026159712171_250488.0643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2688745chr18:2585111ENST000002615975171_250193.0643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2688745chr18:2585112ENST000002615975171_250193.0643.0RegionNote=Nuclear localization
TgeneNDC80chr18:2732490chr18:2599018ENST0000026159710171_250407.0643.0RegionNote=Nuclear localization


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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
SMCHD1
NDC80


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
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117251_618458.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017251_618407.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117251_618458.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217251_618488.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017251_618407.0643.0NEK2 and ZWINT
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117361_547458.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017361_547407.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117361_547458.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217361_547488.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017361_547407.0643.0PSMC2 and SMC1A
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117128_251458.0643.0RB1
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017128_251407.0643.0RB1
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117128_251458.0643.0RB1
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217128_251488.0643.0RB1
TgeneNDC80chr18:2688745chr18:2585111ENST00000261597517128_251193.0643.0RB1
TgeneNDC80chr18:2688745chr18:2585112ENST00000261597517128_251193.0643.0RB1
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017128_251407.0643.0RB1
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117251_431458.0643.0SMC1A
TgeneNDC80chr18:2656260chr18:2599018ENST000002615971017251_431407.0643.0SMC1A
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117251_431458.0643.0SMC1A
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217251_431488.0643.0SMC1A
TgeneNDC80chr18:2732490chr18:2599018ENST000002615971017251_431407.0643.0SMC1A
TgeneNDC80chr18:2656259chr18:2601394ENST000002615971117446_642458.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
TgeneNDC80chr18:2656260chr18:2601395ENST000002615971117446_642458.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
TgeneNDC80chr18:2656260chr18:2606414ENST000002615971217446_642488.0643.0the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
TgeneNDC80chr18:2656259chr18:2601394ENST0000026159711171_445458.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2656260chr18:2599018ENST0000026159710171_445407.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2656260chr18:2601395ENST0000026159711171_445458.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2656260chr18:2606414ENST0000026159712171_445488.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2688745chr18:2585111ENST000002615975171_445193.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2688745chr18:2585112ENST000002615975171_445193.0643.0the N-terminus of CDCA1
TgeneNDC80chr18:2732490chr18:2599018ENST0000026159710171_445407.0643.0the N-terminus of CDCA1


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Related Drugs to SMCHD1-NDC80


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

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Related Diseases to SMCHD1-NDC80


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