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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:ARHGAP12-KDM1A

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ARHGAP12-KDM1A
FusionPDB ID: 5932
FusionGDB2.0 ID: 5932
HgeneTgene
Gene symbol

ARHGAP12

KDM1A

Gene ID

94134

23028

Gene nameRho GTPase activating protein 12lysine demethylase 1A
Synonyms-AOF2|BHC110|CPRF|KDM1|LSD1
Cytomap

10p11.22

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 12rho-type GTPase-activating protein 12lysine-specific histone demethylase 1ABRAF35-HDAC complex protein BHC110FAD-binding protein BRAF35-HDAC complex, 110 kDa subunitamine oxidase (flavin containing) domain 2flavin-containing amine oxidase domain-containing protein 2lysine (K)-specific d
Modification date2020031320200329
UniProtAcc

Q8IWW6

O60341

Ensembl transtripts involved in fusion geneENST idsENST00000492028, ENST00000344936, 
ENST00000375245, ENST00000375250, 
ENST00000396144, ENST00000311380, 
ENST00000356634, ENST00000400181, 
ENST00000542151, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 8 X 7=5043 X 5 X 3=45
# samples 115
** MAII scorelog2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ARHGAP12 [Title/Abstract] AND KDM1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ARHGAP12(32106716)-KDM1A(23403721), # samples:1
Anticipated loss of major functional domain due to fusion event.ARHGAP12-KDM1A 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.
ARHGAP12-KDM1A 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.
ARHGAP12-KDM1A 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.
ARHGAP12-KDM1A 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.
ARHGAP12-KDM1A seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ARHGAP12-KDM1A seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ARHGAP12-KDM1A seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneKDM1A

GO:0033169

histone H3-K9 demethylation

16079795|20228790

TgeneKDM1A

GO:0034644

cellular response to UV

24217620

TgeneKDM1A

GO:0034720

histone H3-K4 demethylation

15620353|20228790|24217620

TgeneKDM1A

GO:0043433

negative regulation of DNA-binding transcription factor activity

19497860

TgeneKDM1A

GO:0045892

negative regulation of transcription, DNA-templated

19497860

TgeneKDM1A

GO:0045944

positive regulation of transcription by RNA polymerase II

20833138

TgeneKDM1A

GO:0051091

positive regulation of DNA-binding transcription factor activity

20833138


check buttonFusion gene breakpoints across ARHGAP12 (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 KDM1A (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
ChimerDB4STADTCGA-FP-8209-01AARHGAP12chr10

32106716

-KDM1Achr1

23403721

+


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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)
ENST00000311380ARHGAP12chr1032106716-ENST00000356634KDM1Achr123403721+28161594192490823
ENST00000311380ARHGAP12chr1032106716-ENST00000400181KDM1Achr123403721+28151594192490823
ENST00000311380ARHGAP12chr1032106716-ENST00000542151KDM1Achr123403721+28161594192490823

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
ENST00000311380ENST00000356634ARHGAP12chr1032106716-KDM1Achr123403721+0.0006969770.999303
ENST00000311380ENST00000400181ARHGAP12chr1032106716-KDM1Achr123403721+0.0007000470.9992999
ENST00000311380ENST00000542151ARHGAP12chr1032106716-KDM1Achr123403721+0.0006969770.999303

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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

>5932_5932_1_ARHGAP12-KDM1A_ARHGAP12_chr10_32106716_ENST00000311380_KDM1A_chr1_23403721_ENST00000356634_length(amino acids)=823AA_BP=525
MKMADRSGKIIPGQVYIEVEYDYEYEAKDRKIVIKQGERYILVKKTNDDWWQVKPDENSKAFYVPAQYVKEVTRKALMPPVKQVAGLPNN
STKIMQSLHLQRSTENVNKLPELSSFGKPSSSVQGTGLIRDANQNFGPSYNQGQTVNLSLDLTHNNGKFNNDSHSPKVSSQNRTRSFGHF
PGPEFLDVEKTSFSQEQSCDSAGEGSERIHQDSESGDELSSSSTEQIRATTPPNQGRPDSPVYANLQELKISQSALPPLPGSPAIQINGE
WETHKDSSGRCYYYNRGTQERTWKPPRWTRDASISKGDFQNPGDQEWLKHVDDQGRQYYYSADGSRSEWELPKYNASSQQQREIIKSRSL
DRRLQEPIVLTKWRHSTIVLDTNDKESPTASKPCFPENESSPSSPKHQDTDQEKYGLLNVTKIAENGKKVRKNWLSSWAVLQGSSLLFTK
TQGSSTSWFGSNQSKPEFTVDLKGATIEMASKDKSSKKNVFELKTRQGTELLIQSDNDTVINDWFKVLSSTINNQDDDFEFTGSHLTVRN
GYSCVPVALAEGLDIKLNTAVRQVRYTASGCEVIAVNTRSTSQTFIYKCDAVLCTLPLGVLKQQPPAVQFVPPLPEWKTSAVQRMGFGNL
NKVVLCFDRVFWDPSVNLFGHVGSTTASRGELFLFWNLYKAPILLALVAGEAAGIMENISDDVIVGRCLAILKGIFGSSAVPQPKETVVS
RWRADPWARGSYSYVAAGSSGNDYDLMAQPITPGPSIPGAPQPIPRLFFAGEHTIRNYPATVHGALLSGLREAGRIADQFLGAMYTLPRQ

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

>5932_5932_2_ARHGAP12-KDM1A_ARHGAP12_chr10_32106716_ENST00000311380_KDM1A_chr1_23403721_ENST00000400181_length(amino acids)=823AA_BP=525
MKMADRSGKIIPGQVYIEVEYDYEYEAKDRKIVIKQGERYILVKKTNDDWWQVKPDENSKAFYVPAQYVKEVTRKALMPPVKQVAGLPNN
STKIMQSLHLQRSTENVNKLPELSSFGKPSSSVQGTGLIRDANQNFGPSYNQGQTVNLSLDLTHNNGKFNNDSHSPKVSSQNRTRSFGHF
PGPEFLDVEKTSFSQEQSCDSAGEGSERIHQDSESGDELSSSSTEQIRATTPPNQGRPDSPVYANLQELKISQSALPPLPGSPAIQINGE
WETHKDSSGRCYYYNRGTQERTWKPPRWTRDASISKGDFQNPGDQEWLKHVDDQGRQYYYSADGSRSEWELPKYNASSQQQREIIKSRSL
DRRLQEPIVLTKWRHSTIVLDTNDKESPTASKPCFPENESSPSSPKHQDTDQEKYGLLNVTKIAENGKKVRKNWLSSWAVLQGSSLLFTK
TQGSSTSWFGSNQSKPEFTVDLKGATIEMASKDKSSKKNVFELKTRQGTELLIQSDNDTVINDWFKVLSSTINNQDDDFEFTGSHLTVRN
GYSCVPVALAEGLDIKLNTAVRQVRYTASGCEVIAVNTRSTSQTFIYKCDAVLCTLPLGVLKQQPPAVQFVPPLPEWKTSAVQRMGFGNL
NKVVLCFDRVFWDPSVNLFGHVGSTTASRGELFLFWNLYKAPILLALVAGEAAGIMENISDDVIVGRCLAILKGIFGSSAVPQPKETVVS
RWRADPWARGSYSYVAAGSSGNDYDLMAQPITPGPSIPGAPQPIPRLFFAGEHTIRNYPATVHGALLSGLREAGRIADQFLGAMYTLPRQ

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

>5932_5932_3_ARHGAP12-KDM1A_ARHGAP12_chr10_32106716_ENST00000311380_KDM1A_chr1_23403721_ENST00000542151_length(amino acids)=823AA_BP=525
MKMADRSGKIIPGQVYIEVEYDYEYEAKDRKIVIKQGERYILVKKTNDDWWQVKPDENSKAFYVPAQYVKEVTRKALMPPVKQVAGLPNN
STKIMQSLHLQRSTENVNKLPELSSFGKPSSSVQGTGLIRDANQNFGPSYNQGQTVNLSLDLTHNNGKFNNDSHSPKVSSQNRTRSFGHF
PGPEFLDVEKTSFSQEQSCDSAGEGSERIHQDSESGDELSSSSTEQIRATTPPNQGRPDSPVYANLQELKISQSALPPLPGSPAIQINGE
WETHKDSSGRCYYYNRGTQERTWKPPRWTRDASISKGDFQNPGDQEWLKHVDDQGRQYYYSADGSRSEWELPKYNASSQQQREIIKSRSL
DRRLQEPIVLTKWRHSTIVLDTNDKESPTASKPCFPENESSPSSPKHQDTDQEKYGLLNVTKIAENGKKVRKNWLSSWAVLQGSSLLFTK
TQGSSTSWFGSNQSKPEFTVDLKGATIEMASKDKSSKKNVFELKTRQGTELLIQSDNDTVINDWFKVLSSTINNQDDDFEFTGSHLTVRN
GYSCVPVALAEGLDIKLNTAVRQVRYTASGCEVIAVNTRSTSQTFIYKCDAVLCTLPLGVLKQQPPAVQFVPPLPEWKTSAVQRMGFGNL
NKVVLCFDRVFWDPSVNLFGHVGSTTASRGELFLFWNLYKAPILLALVAGEAAGIMENISDDVIVGRCLAILKGIFGSSAVPQPKETVVS
RWRADPWARGSYSYVAAGSSGNDYDLMAQPITPGPSIPGAPQPIPRLFFAGEHTIRNYPATVHGALLSGLREAGRIADQFLGAMYTLPRQ

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

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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/chr10:32106716/chr1:23403721)
- 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
ARHGAP12

Q8IWW6

KDM1A

O60341

FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {ECO:0000250}.FUNCTION: Histone demethylase that can demethylate both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context (PubMed:15620353, PubMed:15811342, PubMed:16140033, PubMed:16079794, PubMed:16079795, PubMed:16223729). Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed (PubMed:15620353, PubMed:15811342, PubMed:16079794, PubMed:21300290). Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me (PubMed:15620353, PubMed:20389281, PubMed:21300290, PubMed:23721412). May play a role in the repression of neuronal genes. Alone, it is unable to demethylate H3K4me on nucleosomes and requires the presence of RCOR1/CoREST to achieve such activity (PubMed:16140033, PubMed:16079794, PubMed:16885027, PubMed:21300290, PubMed:23721412). Also acts as a coactivator of androgen receptor (AR)-dependent transcription, by being recruited to AR target genes and mediating demethylation of H3K9me, a specific tag for epigenetic transcriptional repression. The presence of PRKCB in AR-containing complexes, which mediates phosphorylation of 'Thr-6' of histone H3 (H3T6ph), a specific tag that prevents demethylation H3K4me, prevents H3K4me demethylase activity of KDM1A (PubMed:16079795). Demethylates di-methylated 'Lys-370' of p53/TP53 which prevents interaction of p53/TP53 with TP53BP1 and represses p53/TP53-mediated transcriptional activation. Demethylates and stabilizes the DNA methylase DNMT1. Required for gastrulation during embryogenesis. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Effector of SNAI1-mediated transcription repression of E-cadherin/CDH1, CDN7 and KRT8. Required for the maintenance of the silenced state of the SNAI1 target genes E-cadherin/CDH1 and CDN7 (PubMed:20389281). {ECO:0000269|PubMed:12032298, ECO:0000269|PubMed:15620353, ECO:0000269|PubMed:15811342, ECO:0000269|PubMed:16079794, ECO:0000269|PubMed:16079795, ECO:0000269|PubMed:16140033, ECO:0000269|PubMed:16223729, ECO:0000269|PubMed:16885027, ECO:0000269|PubMed:16956976, ECO:0000269|PubMed:17805299, ECO:0000269|PubMed:20228790, ECO:0000269|PubMed:20389281, ECO:0000269|PubMed:20562920, ECO:0000269|PubMed:21300290, ECO:0000269|PubMed:23721412}.

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
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000311380-91612_74525.0795.0DomainSH3
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000311380-916265_298525.0795.0DomainWW 1
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000311380-916358_391525.0795.0DomainWW 2
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000344936-132012_74577.0847.0DomainSH3
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000344936-1320265_298577.0847.0DomainWW 1
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000344936-1320358_391577.0847.0DomainWW 2
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000344936-1320463_575577.0847.0DomainPH
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375245-111812_74525.0795.0DomainSH3
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375245-1118265_298525.0795.0DomainWW 1
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375245-1118358_391525.0795.0DomainWW 2
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375250-111812_74547.0817.0DomainSH3
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375250-1118265_298547.0817.0DomainWW 1
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375250-1118358_391547.0817.0DomainWW 2
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000396144-121912_74572.0842.0DomainSH3
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000396144-1219265_298572.0842.0DomainWW 1
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000396144-1219358_391572.0842.0DomainWW 2
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000396144-1219463_575572.0842.0DomainPH
TgeneKDM1Achr10:32106716chr1:23403721ENST000003566341219810_811554.0853.0Nucleotide bindingFAD
TgeneKDM1Achr10:32106716chr1:23403721ENST000004001811421810_811578.0877.0Nucleotide bindingFAD

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000311380-916463_575525.0795.0DomainPH
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000311380-916656_844525.0795.0DomainRho-GAP
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000344936-1320656_844577.0847.0DomainRho-GAP
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375245-1118463_575525.0795.0DomainPH
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375245-1118656_844525.0795.0DomainRho-GAP
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375250-1118463_575547.0817.0DomainPH
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000375250-1118656_844547.0817.0DomainRho-GAP
HgeneARHGAP12chr10:32106716chr1:23403721ENST00000396144-1219656_844572.0842.0DomainRho-GAP
TgeneKDM1Achr10:32106716chr1:23403721ENST000003566341219110_151554.0853.0Coiled coilOntology_term=ECO:0000255
TgeneKDM1Achr10:32106716chr1:23403721ENST000003566341219428_514554.0853.0Coiled coilOntology_term=ECO:0000255
TgeneKDM1Achr10:32106716chr1:23403721ENST000004001811421110_151578.0877.0Coiled coilOntology_term=ECO:0000255
TgeneKDM1Achr10:32106716chr1:23403721ENST000004001811421428_514578.0877.0Coiled coilOntology_term=ECO:0000255
TgeneKDM1Achr10:32106716chr1:23403721ENST000003566341219152_156554.0853.0Compositional biasNote=Poly-Pro
TgeneKDM1Achr10:32106716chr1:23403721ENST0000035663412197_42554.0853.0Compositional biasNote=Ala-rich
TgeneKDM1Achr10:32106716chr1:23403721ENST000004001811421152_156578.0877.0Compositional biasNote=Poly-Pro
TgeneKDM1Achr10:32106716chr1:23403721ENST0000040018114217_42578.0877.0Compositional biasNote=Ala-rich
TgeneKDM1Achr10:32106716chr1:23403721ENST000003566341219174_273554.0853.0DomainSWIRM
TgeneKDM1Achr10:32106716chr1:23403721ENST000004001811421174_273578.0877.0DomainSWIRM
TgeneKDM1Achr10:32106716chr1:23403721ENST000003566341219332_333554.0853.0Nucleotide bindingFAD
TgeneKDM1Achr10:32106716chr1:23403721ENST000004001811421332_333578.0877.0Nucleotide bindingFAD
TgeneKDM1Achr10:32106716chr1:23403721ENST000003566341219300_852554.0853.0RegionNote=Demethylase activity
TgeneKDM1Achr10:32106716chr1:23403721ENST000004001811421300_852578.0877.0RegionNote=Demethylase activity


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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
ARHGAP12
KDM1A


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 ARHGAP12-KDM1A


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 ARHGAP12-KDM1A


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