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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:NUMA1-PITPNM1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NUMA1-PITPNM1
FusionPDB ID: 60913
FusionGDB2.0 ID: 60913
HgeneTgene
Gene symbol

NUMA1

PITPNM1

Gene ID

4926

9600

Gene namenuclear mitotic apparatus protein 1phosphatidylinositol transfer protein membrane associated 1
SynonymsNMP-22|NUMADRES9|NIR2|PITPNM|RDGB|RDGB1|RDGBA|RDGBA1|Rd9
Cytomap

11q13.4

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionnuclear mitotic apparatus protein 1SP-H antigencentrophilin stabilizes mitotic spindle in mitotic cellsnuclear matrix protein-22structural nuclear proteinmembrane-associated phosphatidylinositol transfer protein 1NIR-2PITPnm 1PYK2 N-terminal domain-interacting receptor 2drosophila retinal degeneration B homologretinal degeneration B alpha 1
Modification date2020031320200313
UniProtAcc

Q14980

.
Ensembl transtripts involved in fusion geneENST idsENST00000351960, ENST00000358965, 
ENST00000393695, ENST00000543450, 
ENST00000526450, ENST00000356404, 
ENST00000436757, ENST00000534749, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score36 X 22 X 17=134644 X 7 X 2=56
# samples 436
** MAII scorelog2(43/13464*10)=-4.96862661174049
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/56*10)=0.0995356735509144
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NUMA1 [Title/Abstract] AND PITPNM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NUMA1(71718235)-PITPNM1(67265793), # samples:3
PITPNM1(67271574)-NUMA1(71747021), # samples:1
Anticipated loss of major functional domain due to fusion event.NUMA1-PITPNM1 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.
NUMA1-PITPNM1 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.
NUMA1-PITPNM1 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.
NUMA1-PITPNM1 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.
NUMA1-PITPNM1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NUMA1-PITPNM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted 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
HgeneNUMA1

GO:0000132

establishment of mitotic spindle orientation

21816348

HgeneNUMA1

GO:0030953

astral microtubule organization

12445386

HgeneNUMA1

GO:0060236

regulation of mitotic spindle organization

26195665

HgeneNUMA1

GO:1902365

positive regulation of protein localization to spindle pole body

16076287

TgenePITPNM1

GO:0015914

phospholipid transport

22822086


check buttonFusion gene breakpoints across NUMA1 (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 PITPNM1 (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
ChimerDB4BRCATCGA-E2-A107-01ANUMA1chr11

71718235

-PITPNM1chr11

67265793

-
ChimerDB4BRCATCGA-E2-A107NUMA1chr11

71718234

-PITPNM1chr11

67265793

-


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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)
ENST00000358965NUMA1chr1171718235-ENST00000534749PITPNM1chr1167265793-8195567924058461868
ENST00000358965NUMA1chr1171718235-ENST00000436757PITPNM1chr1167265793-8192567924058461868
ENST00000358965NUMA1chr1171718235-ENST00000356404PITPNM1chr1167265793-8194567924058461868
ENST00000358965NUMA1chr1171718234-ENST00000534749PITPNM1chr1167265793-8195567924058461868
ENST00000358965NUMA1chr1171718234-ENST00000436757PITPNM1chr1167265793-8192567924058461868
ENST00000358965NUMA1chr1171718234-ENST00000356404PITPNM1chr1167265793-8194567924058461868

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
ENST00000358965ENST00000534749NUMA1chr1171718235-PITPNM1chr1167265793-0.0276037850.9723962
ENST00000358965ENST00000436757NUMA1chr1171718235-PITPNM1chr1167265793-0.0275163460.97248363
ENST00000358965ENST00000356404NUMA1chr1171718235-PITPNM1chr1167265793-0.0276096570.9723903
ENST00000358965ENST00000534749NUMA1chr1171718234-PITPNM1chr1167265793-0.0276037850.9723962
ENST00000358965ENST00000436757NUMA1chr1171718234-PITPNM1chr1167265793-0.0275163460.97248363
ENST00000358965ENST00000356404NUMA1chr1171718234-PITPNM1chr1167265793-0.0276096570.9723903

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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

>60913_60913_1_NUMA1-PITPNM1_NUMA1_chr11_71718234_ENST00000358965_PITPNM1_chr11_67265793_ENST00000356404_length(amino acids)=1868AA_BP=1813
MSGITKMTLHATRGAALLSWVNSLHVADPVEAVLQLQDCSIFIKIIDRIHGTEEGQQILKQPVSERLDFVCSFLQKNRKHPSSPECLVSA
QKVLEGSELELAKMTMLLLYHSTMSSKSPRDWEQFEYKIQAELAVILKFVLDHEDGLNLNEDLENFLQKAPVPSTCSSTFPEELSPPSHQ
AKREIRFLELQKVASSSSGNNFLSGSPASPMGDILQTPQFQMRRLKKQLADERSNRDELELELAENRKLLTEKDAQIAMMQQRIDRLALL
NEKQAASPLEPKELEELRDKNESLTMRLHETLKQCQDLKTEKSQMDRKINQLSEENGDLSFKLREFASHLQQLQDALNELTEEHSKATQE
WLEKQAQLEKELSAALQDKKCLEEKNEILQGKLSQLEEHLSQLQDNPPQEKGEVLGDVLQLETLKQEAATLAANNTQLQARVEMLETERG
QQEAKLLAERGHFEEEKQQLSSLITDLQSSISNLSQAKEELEQASQAHGARLTAQVASLTSELTTLNATIQQQDQELAGLKQQAKEKQAQ
LAQTLQQQEQASQGLRHQVEQLSSSLKQKEQQLKEVAEKQEATRQDHAQQLATAAEEREASLRERDAALKQLEALEKEKAAKLEILQQQL
QVANEARDSAQTSVTQAQREKAELSRKVEELQACVETARQEQHEAQAQVAELELQLRSEQQKATEKERVAQEKDQLQEQLQALKESLKVT
KGSLEEEKRRAADALEEQQRCISELKAETRSLVEQHKRERKELEEERAGRKGLEARLQQLGEAHQAETEVLRRELAEAMAAQHTAESECE
QLVKEVAAWRERYEDSQQEEAQYGAMFQEQLMTLKEECEKARQELQEAKEKVAGIESHSELQISRQQNELAELHANLARALQQVQEKEVR
AQKLADDLSTLQEKMAATSKEVARLETLVRKAGEQQETASRELVKEPARAGDRQPEWLEEQQGRQFCSTQAALQAMEREAEQMGNELERL
RAALMESQGQQQEERGQQEREVARLTQERGRAQADLALEKAARAELEMRLQNALNEQRVEFATLQEALAHALTEKEGKDQELAKLRGLEA
AQIKELEELRQTVKQLKEQLAKKEKEHASGSGAQSEAAGRTEPTGPKLEALRAEVSKLEQQCQKQQEQADSLERSLEAERASRAERDSAL
ETLQGQLEEKAQELGHSQSALASAQRELAAFRTKVQDHSKAEDEWKAQVARGRQEAERKNSLISSLEEEVSILNRQVLEKEGESKELKRL
VMAESEKSQKLEERLRLLQAETASNSARAAERSSALREEVQSLREEAEKQRVASENLRQELTSQAERAEELGQELKAWQEKFFQKEQALS
TLQLEHTSTQALVSELLPAKHLCQQLQAEQAAAEKRHREELEQSKQAAGGLRAELLRAQRELGELIPLRQKVAEQERTAQQLRAEKASYA
EQLSMLKKAHGLLAEENRGLGERANLGRQFLEVELDQAREKYVQELAAVRADAETRLAEVQREAQSTARELEVMTAKYEGAKVKVLEERQ
RFQEERQKLTAQVEELSKKLADSDQASKVQQQKLKAVQAQGGESQQEAQRLQAQLNELQAQLSQKEQAAEHYKLQMEKAKTHYDAKKQQN
QELQEQLRSLEQLQKENKELRAEAERLGHELQQAGLKTKEAEQTCRHLTAQVRSLEAQVAHADQQLRDLGKFQVATDALKSREPQAKPQL
DLSIDSLDLSCEEGTPLSITSKLPRTQPDGTSVPGEPASPISQRLPPKVESLESLYFTPIPARSQAPLESSLDSLGDVFLDSGRKTRSAR

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>60913_60913_2_NUMA1-PITPNM1_NUMA1_chr11_71718234_ENST00000358965_PITPNM1_chr11_67265793_ENST00000436757_length(amino acids)=1868AA_BP=1813
MSGITKMTLHATRGAALLSWVNSLHVADPVEAVLQLQDCSIFIKIIDRIHGTEEGQQILKQPVSERLDFVCSFLQKNRKHPSSPECLVSA
QKVLEGSELELAKMTMLLLYHSTMSSKSPRDWEQFEYKIQAELAVILKFVLDHEDGLNLNEDLENFLQKAPVPSTCSSTFPEELSPPSHQ
AKREIRFLELQKVASSSSGNNFLSGSPASPMGDILQTPQFQMRRLKKQLADERSNRDELELELAENRKLLTEKDAQIAMMQQRIDRLALL
NEKQAASPLEPKELEELRDKNESLTMRLHETLKQCQDLKTEKSQMDRKINQLSEENGDLSFKLREFASHLQQLQDALNELTEEHSKATQE
WLEKQAQLEKELSAALQDKKCLEEKNEILQGKLSQLEEHLSQLQDNPPQEKGEVLGDVLQLETLKQEAATLAANNTQLQARVEMLETERG
QQEAKLLAERGHFEEEKQQLSSLITDLQSSISNLSQAKEELEQASQAHGARLTAQVASLTSELTTLNATIQQQDQELAGLKQQAKEKQAQ
LAQTLQQQEQASQGLRHQVEQLSSSLKQKEQQLKEVAEKQEATRQDHAQQLATAAEEREASLRERDAALKQLEALEKEKAAKLEILQQQL
QVANEARDSAQTSVTQAQREKAELSRKVEELQACVETARQEQHEAQAQVAELELQLRSEQQKATEKERVAQEKDQLQEQLQALKESLKVT
KGSLEEEKRRAADALEEQQRCISELKAETRSLVEQHKRERKELEEERAGRKGLEARLQQLGEAHQAETEVLRRELAEAMAAQHTAESECE
QLVKEVAAWRERYEDSQQEEAQYGAMFQEQLMTLKEECEKARQELQEAKEKVAGIESHSELQISRQQNELAELHANLARALQQVQEKEVR
AQKLADDLSTLQEKMAATSKEVARLETLVRKAGEQQETASRELVKEPARAGDRQPEWLEEQQGRQFCSTQAALQAMEREAEQMGNELERL
RAALMESQGQQQEERGQQEREVARLTQERGRAQADLALEKAARAELEMRLQNALNEQRVEFATLQEALAHALTEKEGKDQELAKLRGLEA
AQIKELEELRQTVKQLKEQLAKKEKEHASGSGAQSEAAGRTEPTGPKLEALRAEVSKLEQQCQKQQEQADSLERSLEAERASRAERDSAL
ETLQGQLEEKAQELGHSQSALASAQRELAAFRTKVQDHSKAEDEWKAQVARGRQEAERKNSLISSLEEEVSILNRQVLEKEGESKELKRL
VMAESEKSQKLEERLRLLQAETASNSARAAERSSALREEVQSLREEAEKQRVASENLRQELTSQAERAEELGQELKAWQEKFFQKEQALS
TLQLEHTSTQALVSELLPAKHLCQQLQAEQAAAEKRHREELEQSKQAAGGLRAELLRAQRELGELIPLRQKVAEQERTAQQLRAEKASYA
EQLSMLKKAHGLLAEENRGLGERANLGRQFLEVELDQAREKYVQELAAVRADAETRLAEVQREAQSTARELEVMTAKYEGAKVKVLEERQ
RFQEERQKLTAQVEELSKKLADSDQASKVQQQKLKAVQAQGGESQQEAQRLQAQLNELQAQLSQKEQAAEHYKLQMEKAKTHYDAKKQQN
QELQEQLRSLEQLQKENKELRAEAERLGHELQQAGLKTKEAEQTCRHLTAQVRSLEAQVAHADQQLRDLGKFQVATDALKSREPQAKPQL
DLSIDSLDLSCEEGTPLSITSKLPRTQPDGTSVPGEPASPISQRLPPKVESLESLYFTPIPARSQAPLESSLDSLGDVFLDSGRKTRSAR

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

>60913_60913_3_NUMA1-PITPNM1_NUMA1_chr11_71718234_ENST00000358965_PITPNM1_chr11_67265793_ENST00000534749_length(amino acids)=1868AA_BP=1813
MSGITKMTLHATRGAALLSWVNSLHVADPVEAVLQLQDCSIFIKIIDRIHGTEEGQQILKQPVSERLDFVCSFLQKNRKHPSSPECLVSA
QKVLEGSELELAKMTMLLLYHSTMSSKSPRDWEQFEYKIQAELAVILKFVLDHEDGLNLNEDLENFLQKAPVPSTCSSTFPEELSPPSHQ
AKREIRFLELQKVASSSSGNNFLSGSPASPMGDILQTPQFQMRRLKKQLADERSNRDELELELAENRKLLTEKDAQIAMMQQRIDRLALL
NEKQAASPLEPKELEELRDKNESLTMRLHETLKQCQDLKTEKSQMDRKINQLSEENGDLSFKLREFASHLQQLQDALNELTEEHSKATQE
WLEKQAQLEKELSAALQDKKCLEEKNEILQGKLSQLEEHLSQLQDNPPQEKGEVLGDVLQLETLKQEAATLAANNTQLQARVEMLETERG
QQEAKLLAERGHFEEEKQQLSSLITDLQSSISNLSQAKEELEQASQAHGARLTAQVASLTSELTTLNATIQQQDQELAGLKQQAKEKQAQ
LAQTLQQQEQASQGLRHQVEQLSSSLKQKEQQLKEVAEKQEATRQDHAQQLATAAEEREASLRERDAALKQLEALEKEKAAKLEILQQQL
QVANEARDSAQTSVTQAQREKAELSRKVEELQACVETARQEQHEAQAQVAELELQLRSEQQKATEKERVAQEKDQLQEQLQALKESLKVT
KGSLEEEKRRAADALEEQQRCISELKAETRSLVEQHKRERKELEEERAGRKGLEARLQQLGEAHQAETEVLRRELAEAMAAQHTAESECE
QLVKEVAAWRERYEDSQQEEAQYGAMFQEQLMTLKEECEKARQELQEAKEKVAGIESHSELQISRQQNELAELHANLARALQQVQEKEVR
AQKLADDLSTLQEKMAATSKEVARLETLVRKAGEQQETASRELVKEPARAGDRQPEWLEEQQGRQFCSTQAALQAMEREAEQMGNELERL
RAALMESQGQQQEERGQQEREVARLTQERGRAQADLALEKAARAELEMRLQNALNEQRVEFATLQEALAHALTEKEGKDQELAKLRGLEA
AQIKELEELRQTVKQLKEQLAKKEKEHASGSGAQSEAAGRTEPTGPKLEALRAEVSKLEQQCQKQQEQADSLERSLEAERASRAERDSAL
ETLQGQLEEKAQELGHSQSALASAQRELAAFRTKVQDHSKAEDEWKAQVARGRQEAERKNSLISSLEEEVSILNRQVLEKEGESKELKRL
VMAESEKSQKLEERLRLLQAETASNSARAAERSSALREEVQSLREEAEKQRVASENLRQELTSQAERAEELGQELKAWQEKFFQKEQALS
TLQLEHTSTQALVSELLPAKHLCQQLQAEQAAAEKRHREELEQSKQAAGGLRAELLRAQRELGELIPLRQKVAEQERTAQQLRAEKASYA
EQLSMLKKAHGLLAEENRGLGERANLGRQFLEVELDQAREKYVQELAAVRADAETRLAEVQREAQSTARELEVMTAKYEGAKVKVLEERQ
RFQEERQKLTAQVEELSKKLADSDQASKVQQQKLKAVQAQGGESQQEAQRLQAQLNELQAQLSQKEQAAEHYKLQMEKAKTHYDAKKQQN
QELQEQLRSLEQLQKENKELRAEAERLGHELQQAGLKTKEAEQTCRHLTAQVRSLEAQVAHADQQLRDLGKFQVATDALKSREPQAKPQL
DLSIDSLDLSCEEGTPLSITSKLPRTQPDGTSVPGEPASPISQRLPPKVESLESLYFTPIPARSQAPLESSLDSLGDVFLDSGRKTRSAR

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

>60913_60913_4_NUMA1-PITPNM1_NUMA1_chr11_71718235_ENST00000358965_PITPNM1_chr11_67265793_ENST00000356404_length(amino acids)=1868AA_BP=1813
MSGITKMTLHATRGAALLSWVNSLHVADPVEAVLQLQDCSIFIKIIDRIHGTEEGQQILKQPVSERLDFVCSFLQKNRKHPSSPECLVSA
QKVLEGSELELAKMTMLLLYHSTMSSKSPRDWEQFEYKIQAELAVILKFVLDHEDGLNLNEDLENFLQKAPVPSTCSSTFPEELSPPSHQ
AKREIRFLELQKVASSSSGNNFLSGSPASPMGDILQTPQFQMRRLKKQLADERSNRDELELELAENRKLLTEKDAQIAMMQQRIDRLALL
NEKQAASPLEPKELEELRDKNESLTMRLHETLKQCQDLKTEKSQMDRKINQLSEENGDLSFKLREFASHLQQLQDALNELTEEHSKATQE
WLEKQAQLEKELSAALQDKKCLEEKNEILQGKLSQLEEHLSQLQDNPPQEKGEVLGDVLQLETLKQEAATLAANNTQLQARVEMLETERG
QQEAKLLAERGHFEEEKQQLSSLITDLQSSISNLSQAKEELEQASQAHGARLTAQVASLTSELTTLNATIQQQDQELAGLKQQAKEKQAQ
LAQTLQQQEQASQGLRHQVEQLSSSLKQKEQQLKEVAEKQEATRQDHAQQLATAAEEREASLRERDAALKQLEALEKEKAAKLEILQQQL
QVANEARDSAQTSVTQAQREKAELSRKVEELQACVETARQEQHEAQAQVAELELQLRSEQQKATEKERVAQEKDQLQEQLQALKESLKVT
KGSLEEEKRRAADALEEQQRCISELKAETRSLVEQHKRERKELEEERAGRKGLEARLQQLGEAHQAETEVLRRELAEAMAAQHTAESECE
QLVKEVAAWRERYEDSQQEEAQYGAMFQEQLMTLKEECEKARQELQEAKEKVAGIESHSELQISRQQNELAELHANLARALQQVQEKEVR
AQKLADDLSTLQEKMAATSKEVARLETLVRKAGEQQETASRELVKEPARAGDRQPEWLEEQQGRQFCSTQAALQAMEREAEQMGNELERL
RAALMESQGQQQEERGQQEREVARLTQERGRAQADLALEKAARAELEMRLQNALNEQRVEFATLQEALAHALTEKEGKDQELAKLRGLEA
AQIKELEELRQTVKQLKEQLAKKEKEHASGSGAQSEAAGRTEPTGPKLEALRAEVSKLEQQCQKQQEQADSLERSLEAERASRAERDSAL
ETLQGQLEEKAQELGHSQSALASAQRELAAFRTKVQDHSKAEDEWKAQVARGRQEAERKNSLISSLEEEVSILNRQVLEKEGESKELKRL
VMAESEKSQKLEERLRLLQAETASNSARAAERSSALREEVQSLREEAEKQRVASENLRQELTSQAERAEELGQELKAWQEKFFQKEQALS
TLQLEHTSTQALVSELLPAKHLCQQLQAEQAAAEKRHREELEQSKQAAGGLRAELLRAQRELGELIPLRQKVAEQERTAQQLRAEKASYA
EQLSMLKKAHGLLAEENRGLGERANLGRQFLEVELDQAREKYVQELAAVRADAETRLAEVQREAQSTARELEVMTAKYEGAKVKVLEERQ
RFQEERQKLTAQVEELSKKLADSDQASKVQQQKLKAVQAQGGESQQEAQRLQAQLNELQAQLSQKEQAAEHYKLQMEKAKTHYDAKKQQN
QELQEQLRSLEQLQKENKELRAEAERLGHELQQAGLKTKEAEQTCRHLTAQVRSLEAQVAHADQQLRDLGKFQVATDALKSREPQAKPQL
DLSIDSLDLSCEEGTPLSITSKLPRTQPDGTSVPGEPASPISQRLPPKVESLESLYFTPIPARSQAPLESSLDSLGDVFLDSGRKTRSAR

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>60913_60913_5_NUMA1-PITPNM1_NUMA1_chr11_71718235_ENST00000358965_PITPNM1_chr11_67265793_ENST00000436757_length(amino acids)=1868AA_BP=1813
MSGITKMTLHATRGAALLSWVNSLHVADPVEAVLQLQDCSIFIKIIDRIHGTEEGQQILKQPVSERLDFVCSFLQKNRKHPSSPECLVSA
QKVLEGSELELAKMTMLLLYHSTMSSKSPRDWEQFEYKIQAELAVILKFVLDHEDGLNLNEDLENFLQKAPVPSTCSSTFPEELSPPSHQ
AKREIRFLELQKVASSSSGNNFLSGSPASPMGDILQTPQFQMRRLKKQLADERSNRDELELELAENRKLLTEKDAQIAMMQQRIDRLALL
NEKQAASPLEPKELEELRDKNESLTMRLHETLKQCQDLKTEKSQMDRKINQLSEENGDLSFKLREFASHLQQLQDALNELTEEHSKATQE
WLEKQAQLEKELSAALQDKKCLEEKNEILQGKLSQLEEHLSQLQDNPPQEKGEVLGDVLQLETLKQEAATLAANNTQLQARVEMLETERG
QQEAKLLAERGHFEEEKQQLSSLITDLQSSISNLSQAKEELEQASQAHGARLTAQVASLTSELTTLNATIQQQDQELAGLKQQAKEKQAQ
LAQTLQQQEQASQGLRHQVEQLSSSLKQKEQQLKEVAEKQEATRQDHAQQLATAAEEREASLRERDAALKQLEALEKEKAAKLEILQQQL
QVANEARDSAQTSVTQAQREKAELSRKVEELQACVETARQEQHEAQAQVAELELQLRSEQQKATEKERVAQEKDQLQEQLQALKESLKVT
KGSLEEEKRRAADALEEQQRCISELKAETRSLVEQHKRERKELEEERAGRKGLEARLQQLGEAHQAETEVLRRELAEAMAAQHTAESECE
QLVKEVAAWRERYEDSQQEEAQYGAMFQEQLMTLKEECEKARQELQEAKEKVAGIESHSELQISRQQNELAELHANLARALQQVQEKEVR
AQKLADDLSTLQEKMAATSKEVARLETLVRKAGEQQETASRELVKEPARAGDRQPEWLEEQQGRQFCSTQAALQAMEREAEQMGNELERL
RAALMESQGQQQEERGQQEREVARLTQERGRAQADLALEKAARAELEMRLQNALNEQRVEFATLQEALAHALTEKEGKDQELAKLRGLEA
AQIKELEELRQTVKQLKEQLAKKEKEHASGSGAQSEAAGRTEPTGPKLEALRAEVSKLEQQCQKQQEQADSLERSLEAERASRAERDSAL
ETLQGQLEEKAQELGHSQSALASAQRELAAFRTKVQDHSKAEDEWKAQVARGRQEAERKNSLISSLEEEVSILNRQVLEKEGESKELKRL
VMAESEKSQKLEERLRLLQAETASNSARAAERSSALREEVQSLREEAEKQRVASENLRQELTSQAERAEELGQELKAWQEKFFQKEQALS
TLQLEHTSTQALVSELLPAKHLCQQLQAEQAAAEKRHREELEQSKQAAGGLRAELLRAQRELGELIPLRQKVAEQERTAQQLRAEKASYA
EQLSMLKKAHGLLAEENRGLGERANLGRQFLEVELDQAREKYVQELAAVRADAETRLAEVQREAQSTARELEVMTAKYEGAKVKVLEERQ
RFQEERQKLTAQVEELSKKLADSDQASKVQQQKLKAVQAQGGESQQEAQRLQAQLNELQAQLSQKEQAAEHYKLQMEKAKTHYDAKKQQN
QELQEQLRSLEQLQKENKELRAEAERLGHELQQAGLKTKEAEQTCRHLTAQVRSLEAQVAHADQQLRDLGKFQVATDALKSREPQAKPQL
DLSIDSLDLSCEEGTPLSITSKLPRTQPDGTSVPGEPASPISQRLPPKVESLESLYFTPIPARSQAPLESSLDSLGDVFLDSGRKTRSAR

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>60913_60913_6_NUMA1-PITPNM1_NUMA1_chr11_71718235_ENST00000358965_PITPNM1_chr11_67265793_ENST00000534749_length(amino acids)=1868AA_BP=1813
MSGITKMTLHATRGAALLSWVNSLHVADPVEAVLQLQDCSIFIKIIDRIHGTEEGQQILKQPVSERLDFVCSFLQKNRKHPSSPECLVSA
QKVLEGSELELAKMTMLLLYHSTMSSKSPRDWEQFEYKIQAELAVILKFVLDHEDGLNLNEDLENFLQKAPVPSTCSSTFPEELSPPSHQ
AKREIRFLELQKVASSSSGNNFLSGSPASPMGDILQTPQFQMRRLKKQLADERSNRDELELELAENRKLLTEKDAQIAMMQQRIDRLALL
NEKQAASPLEPKELEELRDKNESLTMRLHETLKQCQDLKTEKSQMDRKINQLSEENGDLSFKLREFASHLQQLQDALNELTEEHSKATQE
WLEKQAQLEKELSAALQDKKCLEEKNEILQGKLSQLEEHLSQLQDNPPQEKGEVLGDVLQLETLKQEAATLAANNTQLQARVEMLETERG
QQEAKLLAERGHFEEEKQQLSSLITDLQSSISNLSQAKEELEQASQAHGARLTAQVASLTSELTTLNATIQQQDQELAGLKQQAKEKQAQ
LAQTLQQQEQASQGLRHQVEQLSSSLKQKEQQLKEVAEKQEATRQDHAQQLATAAEEREASLRERDAALKQLEALEKEKAAKLEILQQQL
QVANEARDSAQTSVTQAQREKAELSRKVEELQACVETARQEQHEAQAQVAELELQLRSEQQKATEKERVAQEKDQLQEQLQALKESLKVT
KGSLEEEKRRAADALEEQQRCISELKAETRSLVEQHKRERKELEEERAGRKGLEARLQQLGEAHQAETEVLRRELAEAMAAQHTAESECE
QLVKEVAAWRERYEDSQQEEAQYGAMFQEQLMTLKEECEKARQELQEAKEKVAGIESHSELQISRQQNELAELHANLARALQQVQEKEVR
AQKLADDLSTLQEKMAATSKEVARLETLVRKAGEQQETASRELVKEPARAGDRQPEWLEEQQGRQFCSTQAALQAMEREAEQMGNELERL
RAALMESQGQQQEERGQQEREVARLTQERGRAQADLALEKAARAELEMRLQNALNEQRVEFATLQEALAHALTEKEGKDQELAKLRGLEA
AQIKELEELRQTVKQLKEQLAKKEKEHASGSGAQSEAAGRTEPTGPKLEALRAEVSKLEQQCQKQQEQADSLERSLEAERASRAERDSAL
ETLQGQLEEKAQELGHSQSALASAQRELAAFRTKVQDHSKAEDEWKAQVARGRQEAERKNSLISSLEEEVSILNRQVLEKEGESKELKRL
VMAESEKSQKLEERLRLLQAETASNSARAAERSSALREEVQSLREEAEKQRVASENLRQELTSQAERAEELGQELKAWQEKFFQKEQALS
TLQLEHTSTQALVSELLPAKHLCQQLQAEQAAAEKRHREELEQSKQAAGGLRAELLRAQRELGELIPLRQKVAEQERTAQQLRAEKASYA
EQLSMLKKAHGLLAEENRGLGERANLGRQFLEVELDQAREKYVQELAAVRADAETRLAEVQREAQSTARELEVMTAKYEGAKVKVLEERQ
RFQEERQKLTAQVEELSKKLADSDQASKVQQQKLKAVQAQGGESQQEAQRLQAQLNELQAQLSQKEQAAEHYKLQMEKAKTHYDAKKQQN
QELQEQLRSLEQLQKENKELRAEAERLGHELQQAGLKTKEAEQTCRHLTAQVRSLEAQVAHADQQLRDLGKFQVATDALKSREPQAKPQL
DLSIDSLDLSCEEGTPLSITSKLPRTQPDGTSVPGEPASPISQRLPPKVESLESLYFTPIPARSQAPLESSLDSLGDVFLDSGRKTRSAR

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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/chr11:71718235/chr11:67265793)
- 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
NUMA1

Q14980

.
FUNCTION: Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division (PubMed:7769006, PubMed:17172455, PubMed:19255246, PubMed:24996901, PubMed:26195665, PubMed:27462074). Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles (PubMed:12445386, PubMed:11956313). Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901, PubMed:26765568). In metaphase, part of a ternary complex composed of GPSM2 and G(i) alpha proteins, that regulates the recruitment and anchorage of the dynein-dynactin complex in the mitotic cell cortex regions situated above the two spindle poles, and hence regulates the correct oritentation of the mitotic spindle (PubMed:23027904, PubMed:22327364, PubMed:23921553). During anaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical region through direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulation of the spindle elongation and chromosome segregation (PubMed:22327364, PubMed:23921553, PubMed:24996901, PubMed:24371089). Binds also to other polyanionic phosphoinositides, such as phosphatidylinositol 3-phosphate (PIP), lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate (PIP3), in vitro (PubMed:24996901, PubMed:24371089). Also required for proper orientation of the mitotic spindle during asymmetric cell divisions (PubMed:21816348). Plays a role in mitotic MT aster assembly (PubMed:11163243, PubMed:11229403, PubMed:12445386). Involved in anastral spindle assembly (PubMed:25657325). Positively regulates TNKS protein localization to spindle poles in mitosis (PubMed:16076287). Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority of the nuclear volume (PubMed:10075938). Required for epidermal differentiation and hair follicle morphogenesis (By similarity). {ECO:0000250|UniProtKB:E9Q7G0, ECO:0000269|PubMed:11163243, ECO:0000269|PubMed:11229403, ECO:0000269|PubMed:11956313, ECO:0000269|PubMed:12445386, ECO:0000269|PubMed:16076287, ECO:0000269|PubMed:17172455, ECO:0000269|PubMed:19255246, ECO:0000269|PubMed:22327364, ECO:0000269|PubMed:23027904, ECO:0000269|PubMed:23870127, ECO:0000269|PubMed:23921553, ECO:0000269|PubMed:24109598, ECO:0000269|PubMed:24371089, ECO:0000269|PubMed:24996901, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:26195665, ECO:0000269|PubMed:26765568, ECO:0000269|PubMed:27462074, ECO:0000269|PubMed:7769006, ECO:0000305|PubMed:10075938, ECO:0000305|PubMed:21816348}.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.

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
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-2127213_16991807.02102.0Coiled coilOntology_term=ECO:0000255
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-2127213_16991821.02116.0Coiled coilOntology_term=ECO:0000255
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-2127213_16991807.02102.0Coiled coilOntology_term=ECO:0000255
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-2127213_16991821.02116.0Coiled coilOntology_term=ECO:0000255
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-21271742_17481807.02102.0MotifTankyrase-binding domain
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-21271742_17481821.02116.0MotifTankyrase-binding domain
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-21271742_17481807.02102.0MotifTankyrase-binding domain
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-21271742_17481821.02116.0MotifTankyrase-binding domain
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-21271788_18101807.02102.0Region4.1-binding domain
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-21271_2121807.02102.0RegionNote=Head (Globular)
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-21271788_18101821.02116.0Region4.1-binding domain
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-21271_2121821.02116.0RegionNote=Head (Globular)
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-21271788_18101807.02102.0Region4.1-binding domain
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-21271_2121807.02102.0RegionNote=Head (Globular)
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-21271788_18101821.02116.0Region4.1-binding domain
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-21271_2121821.02116.0RegionNote=Head (Globular)
TgenePITPNM1chr11:71718234chr11:67265793ENST00000356404924686_880494.66666666666671245.0DomainDDHD
TgenePITPNM1chr11:71718234chr11:67265793ENST00000436757924686_880494.66666666666671244.0DomainDDHD
TgenePITPNM1chr11:71718234chr11:67265793ENST00000534749823686_880494.66666666666671245.0DomainDDHD
TgenePITPNM1chr11:71718235chr11:67265793ENST00000356404924686_880494.66666666666671245.0DomainDDHD
TgenePITPNM1chr11:71718235chr11:67265793ENST00000436757924686_880494.66666666666671244.0DomainDDHD
TgenePITPNM1chr11:71718235chr11:67265793ENST00000534749823686_880494.66666666666671245.0DomainDDHD

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-21271984_19891807.02102.0MotifNuclear localization signal
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-21271984_19891821.02116.0MotifNuclear localization signal
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-21271984_19891807.02102.0MotifNuclear localization signal
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-21271984_19891821.02116.0MotifNuclear localization signal
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-21271699_18761807.02102.0RegionMembrane-binding domain 1
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-21271700_21151807.02102.0RegionNote=Tail (Globular)
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-21271882_19851807.02102.0RegionTubulin-binding domain
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-21271892_19261807.02102.0RegionGPSM2-binding domain
HgeneNUMA1chr11:71718234chr11:67265793ENST00000358965-21271981_20601807.02102.0RegionMembrane-binding domain 2
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-21271699_18761821.02116.0RegionMembrane-binding domain 1
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-21271700_21151821.02116.0RegionNote=Tail (Globular)
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-21271882_19851821.02116.0RegionTubulin-binding domain
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-21271892_19261821.02116.0RegionGPSM2-binding domain
HgeneNUMA1chr11:71718234chr11:67265793ENST00000393695-21271981_20601821.02116.0RegionMembrane-binding domain 2
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-21271699_18761807.02102.0RegionMembrane-binding domain 1
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-21271700_21151807.02102.0RegionNote=Tail (Globular)
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-21271882_19851807.02102.0RegionTubulin-binding domain
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-21271892_19261807.02102.0RegionGPSM2-binding domain
HgeneNUMA1chr11:71718235chr11:67265793ENST00000358965-21271981_20601807.02102.0RegionMembrane-binding domain 2
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-21271699_18761821.02116.0RegionMembrane-binding domain 1
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-21271700_21151821.02116.0RegionNote=Tail (Globular)
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-21271882_19851821.02116.0RegionTubulin-binding domain
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-21271892_19261821.02116.0RegionGPSM2-binding domain
HgeneNUMA1chr11:71718235chr11:67265793ENST00000393695-21271981_20601821.02116.0RegionMembrane-binding domain 2
TgenePITPNM1chr11:71718234chr11:67265793ENST00000356404924310_319494.66666666666671245.0Compositional biasNote=Poly-Ser
TgenePITPNM1chr11:71718234chr11:67265793ENST00000436757924310_319494.66666666666671244.0Compositional biasNote=Poly-Ser
TgenePITPNM1chr11:71718234chr11:67265793ENST00000534749823310_319494.66666666666671245.0Compositional biasNote=Poly-Ser
TgenePITPNM1chr11:71718235chr11:67265793ENST00000356404924310_319494.66666666666671245.0Compositional biasNote=Poly-Ser
TgenePITPNM1chr11:71718235chr11:67265793ENST00000436757924310_319494.66666666666671244.0Compositional biasNote=Poly-Ser
TgenePITPNM1chr11:71718235chr11:67265793ENST00000534749823310_319494.66666666666671245.0Compositional biasNote=Poly-Ser


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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
NUMA1EPB41, EPB41L1, YEATS4, GPSM2, TNKS, ACTR1A, SMC1A, SMC3, EPB41L2, NCOA6, PIM1, RPAP1, NPM1, BANF1, tat, HDAC5, Ranbp2, SMARCAD1, SIRT7, TERF1, TERF2IP, TERF2, CDK2, EMILIN1, RAE1, NUP98, DYNLL1, NCSTN, DDB1, ESR1, ECT2, MDC1, TP53BP1, SMURF1, VCP, HSP90AB1, HSP90AA1, CDK6, CBX6, KIAA0101, CCDC57, LMNA, YWHAQ, RPA3, RPA2, RPA1, ERG, LGR4, BRAP, DVL1, DVL2, DVL3, GMCL1, ENO1, MOV10, NXF1, BRCA1, CUL7, OBSL1, CCDC8, EZH2, SUZ12, EED, RNF2, BMI1, SUMO2, ABCE1, WDR83, GPSM1, EPB41L3, BRD4, EIF3H, CDC73, EIF3E, EIF3I, EIF3L, RPS13, SRRM1, RPL35A, RTF1, RUVBL1, ZC3H18, NTRK1, SCARNA22, PTTG1, IFI16, SSX2IP, CRK, MATR3, KIF20A, MPHOSPH8, CBX8, PAPD5, ASPM, Cbx1, Tnks, Srp72, Tnks2, DYNC1H1, KPNB1, FAM175B, BRCC3, U2AF2, SCOC, TCP10L, PDHA1, YAP1, TXNIP, MED12, CTNNB1, TCF7L2, EFTUD2, CHD3, CHD4, AGR2, MYC, CDK9, WDR76, HIST1H4A, HIST1H2BB, HIST1H2AB, HIST1H3A, KIAA1429, ACTC1, Bach1, CCND1, NR2C2, PPP1CC, ZFYVE21, XRCC6, DCAF15, BMH1, BMH2, ALYREF, SCARB2, FUS, EWSR1, TAF15, HMGB1, LRWD1, BIRC3, STAU1, WWP2, TRIM28, PLEKHA4, PINK1, WHSC1, FANCD2, GOLGA6L2, HIST1H1A, EIF5B, LYPLA2, NPR2, DDX10, LRRFIP1, RIBC1, HELZ2, MACF1, SDR42E2, VPS4B, MLYCD, LRPAP1, MMEL1, ZFYVE27, DMBX1, BIRC6, TLN1, PHIP, ORF14, LRRC31, CIT, ANLN, CHMP4B, KIF14, PRC1, PYHIN1, DEPDC1B, ARHGAP44, ARHGEF1, LRRC59, NDN, NUPR1, RBM39, nsp2, APEX1, ASF1A, HIST1H2BG, UBC, NAA40, ZBTB2, KRT4, KRT75, KRT72, KRT78, KXD1, TCP10, BTF3, EP300, FBXW7, nsp15, CCNB1, KPNA2, CCNF, TAX1BP1, SIRT6, YY1, PIGR, BRD2, BRD3, BRDT,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
NUMA1all structure
PITPNM1


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


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Related Drugs to NUMA1-PITPNM1


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 NUMA1-PITPNM1


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
HgeneNUMA1C0023487Acute Promyelocytic Leukemia1CTD_human;ORPHANET
HgeneNUMA1C0162820Dermatitis, Allergic Contact1CTD_human