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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 22821

FusionGeneSummary for MTPAP_ALKBH3

check button Fusion gene summary
Fusion gene informationFusion gene name: MTPAP_ALKBH3
Fusion gene ID: 22821
HgeneTgene
Gene symbol

MTPAP

ALKBH3

Gene ID

55149

221120

Gene namemitochondrial poly(A) polymerasealkB homolog 3, alpha-ketoglutaratedependent dioxygenase
SynonymsPAPD1|SPAX4|TENT6ABH3|DEPC-1|DEPC1|PCA1|hABH3
Cytomap

10p11.23

11p11.2

Type of geneprotein-codingprotein-coding
Descriptionpoly(A) RNA polymerase, mitochondrialPAP-associated domain-containing protein 1TUTase 1polynucleotide adenylyltransferaseterminal uridylyltransferase 1alpha-ketoglutarate-dependent dioxygenase alkB homolog 3alkB homolog 3, alpha-ketoglutarate-dependent dioxygenasealkB, alkylation repair homolog 3alkylated DNA repair protein alkB homolog 3prostate cancer antigen-1
Modification date2018052220180519
UniProtAcc

Q9NVV4

Q96Q83

Ensembl transtripts involved in fusion geneENST00000263063, ENST00000358107, 
ENST00000488290, 
ENST00000302708, 
ENST00000378840, ENST00000532410, 
Fusion gene scores* DoF score2 X 1 X 2=44 X 3 X 5=60
# samples 25
** MAII scorelog2(2/4*10)=2.32192809488736log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MTPAP [Title/Abstract] AND ALKBH3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneMTPAP

GO:0006378

mRNA polyadenylation

21292163

TgeneALKBH3

GO:0006281

DNA repair

16858410

TgeneALKBH3

GO:0006307

DNA dealkylation involved in DNA repair

16858410|22055184

TgeneALKBH3

GO:0035552

oxidative single-stranded DNA demethylation

16858410

TgeneALKBH3

GO:0035553

oxidative single-stranded RNA demethylation

26863196|26863410


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-24-1558-01AMTPAPchr10

30611320

-ALKBH3chr11

43940588

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000263063ENST00000302708MTPAPchr10

30611320

-ALKBH3chr11

43940588

+
5CDS-intronENST00000263063ENST00000378840MTPAPchr10

30611320

-ALKBH3chr11

43940588

+
5CDS-3UTRENST00000263063ENST00000532410MTPAPchr10

30611320

-ALKBH3chr11

43940588

+
Frame-shitENST00000358107ENST00000302708MTPAPchr10

30611320

-ALKBH3chr11

43940588

+
5CDS-intronENST00000358107ENST00000378840MTPAPchr10

30611320

-ALKBH3chr11

43940588

+
5CDS-3UTRENST00000358107ENST00000532410MTPAPchr10

30611320

-ALKBH3chr11

43940588

+
5UTR-3CDSENST00000488290ENST00000302708MTPAPchr10

30611320

-ALKBH3chr11

43940588

+
5UTR-intronENST00000488290ENST00000378840MTPAPchr10

30611320

-ALKBH3chr11

43940588

+
5UTR-3UTRENST00000488290ENST00000532410MTPAPchr10

30611320

-ALKBH3chr11

43940588

+

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FusionProtFeatures for MTPAP_ALKBH3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MTPAP

Q9NVV4

ALKBH3

Q96Q83

Polymerase that creates the 3' poly(A) tail ofmitochondrial transcripts. Can use all four nucleotides, but hashigher activity with ATP and UTP (in vitro). Plays a role inreplication-dependent histone mRNA degradation. May be involved inthe terminal uridylation of mature histone mRNAs before theirdegradation is initiated. Might be responsible for the creation ofsome UAA stop codons which are not encoded in mtDNA.{ECO:0000269|PubMed:15547249, ECO:0000269|PubMed:15769737,ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:20970105,ECO:0000269|PubMed:21292163}. Dioxygenase that mediates demethylation of DNA and RNAcontaining 1-methyladenosine (m1A) (PubMed:12486230,PubMed:12594517, PubMed:16174769, PubMed:26863196,PubMed:26863410). Repairs alkylated DNA containing 1-methyladenosine (m1A) and 3-methylcytosine (m3C) by oxidativedemethylation (PubMed:12486230, PubMed:12594517, PubMed:16174769,PubMed:25944111). Has a strong preference for single-stranded DNA(PubMed:12486230, PubMed:12594517, PubMed:16174769). Able toprocess alkylated m3C within double-stranded regions via itsinteraction with ASCC3, which promotes DNA unwinding to generatesingle-stranded substrate needed for ALKBH3 (PubMed:22055184).Also acts on RNA (PubMed:12594517, PubMed:16174769,PubMed:26863196, PubMed:26863410, PubMed:16858410). DemethylatesN(1)-methyladenosine (m1A) RNA, an epigenetic internalmodification of messenger RNAs (mRNAs) highly enriched within 5'-untranslated regions (UTRs) and in the vicinity of start codons(PubMed:26863196, PubMed:26863410). Requires molecular oxygen,alpha-ketoglutarate and iron (PubMed:22055184, PubMed:16858410).{ECO:0000269|PubMed:12486230, ECO:0000269|PubMed:12594517,ECO:0000269|PubMed:16174769, ECO:0000269|PubMed:16858410,ECO:0000269|PubMed:22055184, ECO:0000269|PubMed:25944111,ECO:0000269|PubMed:26863196, ECO:0000269|PubMed:26863410}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MTPAP_ALKBH3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MTPAP_ALKBH3


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
MTPAPCALCOCO2, AZI2, TBK1, ELAVL1, GRSF1, SPACA1, STK25, THBS3, NPM1, RPL10, DYNLL1, FOXI2, FOXS1, NF2, EMILIN1, LRP1, CD79A, YBEY, VWA5A, TSPYL6, LGALS7, EID1, DYNLL2, NCLALKBH3SRPK2, SRPK1, GOLGA2, IKZF1, GLRX3, LNX1, AK8, ZDHHC17, ASCC3, SMEK1, ASCC2, TRIP4, INPPL1, ASCC1, NEU2, KRAS, HSPA5, MAP1B, TUBB2A, TUBA1A, HSPA8, THRAP3, PRMT5, FLNA, RIF1, MGA, TUBB, TCP1, CCT2, CCT4, DHX15, LTBP1, CCT6A, OTUD4, HSPA2, TUBB3, CCT8, BCLAF1, CLNS1A, HNRNPH1, MATR3, SF3B2, TAB1, EEF1A1, CCT5, TUBB4A, HSPA9, USP7, USP9X


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MTPAP_ALKBH3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneALKBH3Q96Q83DB00126Vitamin CAlpha-ketoglutarate-dependent dioxygenase alkB homolog 3 {ECO:0000305}small moleculeapproved|nutraceutical

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RelatedDiseases for MTPAP_ALKBH3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMTPAPC0025202melanoma1CTD_human
HgeneMTPAPC3150925SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE1CTD_human;ORPHANET;UNIPROT