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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:NFIA-CDK2AP1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NFIA-CDK2AP1
FusionPDB ID: 58863
FusionGDB2.0 ID: 58863
HgeneTgene
Gene symbol

NFIA

CDK2AP1

Gene ID

4774

8099

Gene namenuclear factor I Acyclin dependent kinase 2 associated protein 1
SynonymsBRMUTD|CTF|NF-I/A|NF1-A|NFI-A|NFI-LDOC1|DORC1|ST19|doc-1|p12DOC-1
Cytomap

1p31.3

12q24.31

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor 1 A-typeCCAAT-box-binding transcription factorTGGCA-binding proteincyclin-dependent kinase 2-associated protein 1CDK2-associated protein 1Deleted in oral cancer-1deleted in oral cancer 1putative oral cancer suppressor
Modification date2020031320200313
UniProtAcc

Q12857

O14519

Ensembl transtripts involved in fusion geneENST idsENST00000357977, ENST00000371184, 
ENST00000371185, ENST00000371187, 
ENST00000371189, ENST00000371191, 
ENST00000403491, ENST00000407417, 
ENST00000479364, ENST00000485903, 
ENST00000535979, ENST00000538446, 
ENST00000542174, ENST00000544658, 
ENST00000261692, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score21 X 22 X 8=36969 X 5 X 5=225
# samples 259
** MAII scorelog2(25/3696*10)=-3.88596475675397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/225*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NFIA [Title/Abstract] AND CDK2AP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NFIA(61872399)-CDK2AP1(123751829), # samples:4
Anticipated loss of major functional domain due to fusion event.NFIA-CDK2AP1 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.
NFIA-CDK2AP1 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.
NFIA-CDK2AP1 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.
NFIA-CDK2AP1 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.
NFIA-CDK2AP1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
NFIA-CDK2AP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
NFIA-CDK2AP1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneNFIA

GO:0045944

positive regulation of transcription by RNA polymerase II

17010934

TgeneCDK2AP1

GO:0001934

positive regulation of protein phosphorylation

9506968


check buttonFusion gene breakpoints across NFIA (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 CDK2AP1 (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
ChimerDB4THYMTCGA-XU-A92Z-01ANFIAchr1

61872398

+CDK2AP1chr12

123751828

-
ChimerDB4THYMTCGA-XU-A92Z-01ANFIAchr1

61872399

-CDK2AP1chr12

123751829

-
ChimerDB4THYMTCGA-XU-A92Z-01ANFIAchr1

61872399

+CDK2AP1chr12

123751829

-
ChimerDB4THYMTCGA-XU-A92ZNFIAchr1

61872399

+CDK2AP1chr12

123751829

-


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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)
ENST00000371191NFIAchr161872399+ENST00000261692CDK2AP1chr12123751829-264916011121893593
ENST00000407417NFIAchr161872399+ENST00000261692CDK2AP1chr12123751829-279617483102040576
ENST00000371189NFIAchr161872399+ENST00000261692CDK2AP1chr12123751829-26851637821929615
ENST00000403491NFIAchr161872399+ENST00000261692CDK2AP1chr12123751829-295219043432196617
ENST00000371187NFIAchr161872399+ENST00000261692CDK2AP1chr12123751829-26391591301883617
ENST00000485903NFIAchr161872399+ENST00000261692CDK2AP1chr12123751829-24081360691652527
ENST00000371185NFIAchr161872399+ENST00000261692CDK2AP1chr12123751829-24461398441690548
ENST00000371184NFIAchr161872399+ENST00000261692CDK2AP1chr12123751829-21191071381363441
ENST00000357977NFIAchr161872399+ENST00000261692CDK2AP1chr12123751829-14213736665219
ENST00000371191NFIAchr161872398+ENST00000261692CDK2AP1chr12123751828-264916011121893593
ENST00000407417NFIAchr161872398+ENST00000261692CDK2AP1chr12123751828-279617483102040576
ENST00000371189NFIAchr161872398+ENST00000261692CDK2AP1chr12123751828-26851637821929615
ENST00000403491NFIAchr161872398+ENST00000261692CDK2AP1chr12123751828-295219043432196617
ENST00000371187NFIAchr161872398+ENST00000261692CDK2AP1chr12123751828-26391591301883617
ENST00000485903NFIAchr161872398+ENST00000261692CDK2AP1chr12123751828-24081360691652527
ENST00000371185NFIAchr161872398+ENST00000261692CDK2AP1chr12123751828-24461398441690548
ENST00000371184NFIAchr161872398+ENST00000261692CDK2AP1chr12123751828-21191071381363441
ENST00000357977NFIAchr161872398+ENST00000261692CDK2AP1chr12123751828-14213736665219

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
ENST00000371191ENST00000261692NFIAchr161872399+CDK2AP1chr12123751829-0.0021067290.9978933
ENST00000407417ENST00000261692NFIAchr161872399+CDK2AP1chr12123751829-0.001354130.99864584
ENST00000371189ENST00000261692NFIAchr161872399+CDK2AP1chr12123751829-0.0046035860.99539644
ENST00000403491ENST00000261692NFIAchr161872399+CDK2AP1chr12123751829-0.0030049230.9969951
ENST00000371187ENST00000261692NFIAchr161872399+CDK2AP1chr12123751829-0.0022790040.997721
ENST00000485903ENST00000261692NFIAchr161872399+CDK2AP1chr12123751829-0.0010645360.9989355
ENST00000371185ENST00000261692NFIAchr161872399+CDK2AP1chr12123751829-0.0049164370.9950836
ENST00000371184ENST00000261692NFIAchr161872399+CDK2AP1chr12123751829-0.0022550040.99774504
ENST00000357977ENST00000261692NFIAchr161872399+CDK2AP1chr12123751829-0.0133025850.9866974
ENST00000371191ENST00000261692NFIAchr161872398+CDK2AP1chr12123751828-0.0021067290.9978933
ENST00000407417ENST00000261692NFIAchr161872398+CDK2AP1chr12123751828-0.001354130.99864584
ENST00000371189ENST00000261692NFIAchr161872398+CDK2AP1chr12123751828-0.0046035860.99539644
ENST00000403491ENST00000261692NFIAchr161872398+CDK2AP1chr12123751828-0.0030049230.9969951
ENST00000371187ENST00000261692NFIAchr161872398+CDK2AP1chr12123751828-0.0022790040.997721
ENST00000485903ENST00000261692NFIAchr161872398+CDK2AP1chr12123751828-0.0010645360.9989355
ENST00000371185ENST00000261692NFIAchr161872398+CDK2AP1chr12123751828-0.0049164370.9950836
ENST00000371184ENST00000261692NFIAchr161872398+CDK2AP1chr12123751828-0.0022550040.99774504
ENST00000357977ENST00000261692NFIAchr161872398+CDK2AP1chr12123751828-0.0133025850.9866974

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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

>58863_58863_1_NFIA-CDK2AP1_NFIA_chr1_61872398_ENST00000357977_CDK2AP1_chr12_123751828_ENST00000261692_length(amino acids)=219AA_BP=123
MMFSFPAASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPP
PPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSKYAELLAIIEELGKE

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

>58863_58863_2_NFIA-CDK2AP1_NFIA_chr1_61872398_ENST00000371184_CDK2AP1_chr12_123751828_ENST00000261692_length(amino acids)=441AA_BP=345
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYRED
FVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLA
YFVHAAGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEF
VQLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQ

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

>58863_58863_3_NFIA-CDK2AP1_NFIA_chr1_61872398_ENST00000371185_CDK2AP1_chr12_123751828_ENST00000261692_length(amino acids)=548AA_BP=452
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYRED
FVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLA
YFVHAAGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEP
FYTGQGRSPGSGSQSSGWHEVEPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPY
FSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTS
PTGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSKYAELLAIIEELGKEIRPTYAGSKSAMERLKRGIIHARGLVRECLA

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

>58863_58863_4_NFIA-CDK2AP1_NFIA_chr1_61872398_ENST00000371187_CDK2AP1_chr12_123751828_ENST00000261692_length(amino acids)=617AA_BP=521
MIFFSPPFSLSLSLSLPLSLFLLSHPHSRTPPNRTPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKK
HEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVM
VILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVF
SVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEV
EPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLV
CPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQL

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

>58863_58863_5_NFIA-CDK2AP1_NFIA_chr1_61872398_ENST00000371189_CDK2AP1_chr12_123751828_ENST00000261692_length(amino acids)=615AA_BP=519
MQMCRPASSSVLYVPTRWPGGCGATWQSCPSPPPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHE
KRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVI
LFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSV
TELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEP
GMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCP
DAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQLLS

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

>58863_58863_6_NFIA-CDK2AP1_NFIA_chr1_61872398_ENST00000371191_CDK2AP1_chr12_123751828_ENST00000261692_length(amino acids)=593AA_BP=497
MKLADSVMAGKASDGSIKWQLCYDISARTWWMDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEV
KQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCS
NPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLS
DLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPGMPSPTTLKKSEKSGFSSPSPS
QTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPNGSSQGKV
HNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSK

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

>58863_58863_7_NFIA-CDK2AP1_NFIA_chr1_61872398_ENST00000403491_CDK2AP1_chr12_123751828_ENST00000261692_length(amino acids)=617AA_BP=521
MIFFSPPFSLSLSLSLPLSLFLLSHPHSRTPPNRTPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKK
HEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVM
VILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVF
SVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEV
EPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLV
CPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQL

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

>58863_58863_8_NFIA-CDK2AP1_NFIA_chr1_61872398_ENST00000407417_CDK2AP1_chr12_123751828_ENST00000261692_length(amino acids)=576AA_BP=480
MSILKFLTYSFYIAMDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIR
PEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKE
LDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRR
SLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVI
TGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPP
MARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSKYAELLAIIEELGKEIRP

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

>58863_58863_9_NFIA-CDK2AP1_NFIA_chr1_61872398_ENST00000485903_CDK2AP1_chr12_123751828_ENST00000261692_length(amino acids)=527AA_BP=431
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYRED
FVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLA
YFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTS
STSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLV
CPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQL

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

>58863_58863_10_NFIA-CDK2AP1_NFIA_chr1_61872399_ENST00000357977_CDK2AP1_chr12_123751829_ENST00000261692_length(amino acids)=219AA_BP=123
MMFSFPAASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPP
PPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSKYAELLAIIEELGKE

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

>58863_58863_11_NFIA-CDK2AP1_NFIA_chr1_61872399_ENST00000371184_CDK2AP1_chr12_123751829_ENST00000261692_length(amino acids)=441AA_BP=345
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYRED
FVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLA
YFVHAAGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEF
VQLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQ

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

>58863_58863_12_NFIA-CDK2AP1_NFIA_chr1_61872399_ENST00000371185_CDK2AP1_chr12_123751829_ENST00000261692_length(amino acids)=548AA_BP=452
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYRED
FVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLA
YFVHAAGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEP
FYTGQGRSPGSGSQSSGWHEVEPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPY
FSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTS
PTGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSKYAELLAIIEELGKEIRPTYAGSKSAMERLKRGIIHARGLVRECLA

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

>58863_58863_13_NFIA-CDK2AP1_NFIA_chr1_61872399_ENST00000371187_CDK2AP1_chr12_123751829_ENST00000261692_length(amino acids)=617AA_BP=521
MIFFSPPFSLSLSLSLPLSLFLLSHPHSRTPPNRTPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKK
HEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVM
VILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVF
SVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEV
EPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLV
CPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQL

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

>58863_58863_14_NFIA-CDK2AP1_NFIA_chr1_61872399_ENST00000371189_CDK2AP1_chr12_123751829_ENST00000261692_length(amino acids)=615AA_BP=519
MQMCRPASSSVLYVPTRWPGGCGATWQSCPSPPPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHE
KRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVI
LFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSV
TELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEP
GMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCP
DAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQLLS

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

>58863_58863_15_NFIA-CDK2AP1_NFIA_chr1_61872399_ENST00000371191_CDK2AP1_chr12_123751829_ENST00000261692_length(amino acids)=593AA_BP=497
MKLADSVMAGKASDGSIKWQLCYDISARTWWMDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEV
KQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCS
NPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLS
DLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPGMPSPTTLKKSEKSGFSSPSPS
QTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPNGSSQGKV
HNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSK

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

>58863_58863_16_NFIA-CDK2AP1_NFIA_chr1_61872399_ENST00000403491_CDK2AP1_chr12_123751829_ENST00000261692_length(amino acids)=617AA_BP=521
MIFFSPPFSLSLSLSLPLSLFLLSHPHSRTPPNRTPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKK
HEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVM
VILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVF
SVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEV
EPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLV
CPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQL

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

>58863_58863_17_NFIA-CDK2AP1_NFIA_chr1_61872399_ENST00000407417_CDK2AP1_chr12_123751829_ENST00000261692_length(amino acids)=576AA_BP=480
MSILKFLTYSFYIAMDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIR
PEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKE
LDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRR
SLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVI
TGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPP
MARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSKYAELLAIIEELGKEIRP

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

>58863_58863_18_NFIA-CDK2AP1_NFIA_chr1_61872399_ENST00000485903_CDK2AP1_chr12_123751829_ENST00000261692_length(amino acids)=527AA_BP=431
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYRED
FVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLA
YFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTS
STSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEPASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLV
CPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQL

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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/chr1:61872399/chr12:123751829)
- 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
NFIA

Q12857

CDK2AP1

O14519

FUNCTION: Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.FUNCTION: specific inhibitor of the cell-cycle kinase CDK2. {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
HgeneNFIAchr1:61872398chr12:123751828ENST00000371187+9101_194473.3333333333333499.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61872398chr12:123751828ENST00000371189+10121_194518.3333333333334555.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61872398chr12:123751828ENST00000403491+9111_194473.3333333333333510.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61872398chr12:123751828ENST00000407417+9111_194465.3333333333333502.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61872399chr12:123751829ENST00000371187+9101_194473.3333333333333499.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61872399chr12:123751829ENST00000371189+10121_194518.3333333333334555.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61872399chr12:123751829ENST00000403491+9111_194473.3333333333333510.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61872399chr12:123751829ENST00000407417+9111_194465.3333333333333502.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61872398chr12:123751828ENST00000371187+910394_402473.3333333333333499.0Motif9aaTAD
HgeneNFIAchr1:61872398chr12:123751828ENST00000371189+1012394_402518.3333333333334555.0Motif9aaTAD
HgeneNFIAchr1:61872398chr12:123751828ENST00000403491+911394_402473.3333333333333510.0Motif9aaTAD
HgeneNFIAchr1:61872398chr12:123751828ENST00000407417+911394_402465.3333333333333502.0Motif9aaTAD
HgeneNFIAchr1:61872399chr12:123751829ENST00000371187+910394_402473.3333333333333499.0Motif9aaTAD
HgeneNFIAchr1:61872399chr12:123751829ENST00000371189+1012394_402518.3333333333334555.0Motif9aaTAD
HgeneNFIAchr1:61872399chr12:123751829ENST00000403491+911394_402473.3333333333333510.0Motif9aaTAD
HgeneNFIAchr1:61872399chr12:123751829ENST00000407417+911394_402465.3333333333333502.0Motif9aaTAD
TgeneCDK2AP1chr1:61872398chr12:123751828ENST00000535979041_60088.0RegionNote=Intrinsically disordered
TgeneCDK2AP1chr1:61872398chr12:123751828ENST00000538446041_60088.0RegionNote=Intrinsically disordered
TgeneCDK2AP1chr1:61872398chr12:123751828ENST00000542174031_60088.0RegionNote=Intrinsically disordered
TgeneCDK2AP1chr1:61872398chr12:123751828ENST00000544658041_60088.0RegionNote=Intrinsically disordered
TgeneCDK2AP1chr1:61872399chr12:123751829ENST00000535979041_60088.0RegionNote=Intrinsically disordered
TgeneCDK2AP1chr1:61872399chr12:123751829ENST00000538446041_60088.0RegionNote=Intrinsically disordered
TgeneCDK2AP1chr1:61872399chr12:123751829ENST00000542174031_60088.0RegionNote=Intrinsically disordered
TgeneCDK2AP1chr1:61872399chr12:123751829ENST00000544658041_60088.0RegionNote=Intrinsically disordered

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCDK2AP1chr1:61872398chr12:123751828ENST00000261692041_6018.333333333333332116.0RegionNote=Intrinsically disordered
TgeneCDK2AP1chr1:61872399chr12:123751829ENST00000261692041_6018.333333333333332116.0RegionNote=Intrinsically disordered


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>1300_NFIA_61872399_CDK2AP1_123751829_1300_NFIA_61872399_CDK2AP1_123751829_ranked_0.pdbNFIA6187239861872399ENST00000261692CDK2AP1chr12123751829-
MIFFSPPFSLSLSLSLPLSLFLLSHPHSRTPPNRTPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKK
HEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVM
VILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGHLGFQDSFVTSGVF
SVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEV
EPGMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLV
CPDAGQQAGQVGFLNPNGSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTGSVHSPSTSMATSSQYRQL
617


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
NFIA_pLDDT.png
all structure
all structure
CDK2AP1_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
NFIA
CDK2AP1


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 NFIA-CDK2AP1


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 NFIA-CDK2AP1


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