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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: 20597

FusionGeneSummary for MAK_INTS12

check button Fusion gene summary
Fusion gene informationFusion gene name: MAK_INTS12
Fusion gene ID: 20597
HgeneTgene
Gene symbol

MAK

INTS12

Gene ID

4117

57117

Gene namemale germ cell associated kinaseintegrator complex subunit 12
SynonymsRP62INT12|PHF22|SBBI22
Cytomap

6p24.2

4q24

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase MAKmale germ cell-associated kinase retinal-enriched isoformserine/threonine protein kinase MAKtesticular secretory protein Li 28integrator complex subunit 12PHD finger protein 22hypothetical nuclear factor SBBI22
Modification date2018052320180519
UniProtAcc

P20794

Q96CB8

Ensembl transtripts involved in fusion geneENST00000354489, ENST00000313243, 
ENST00000474039, ENST00000538030, 
ENST00000536370, 
ENST00000394735, 
ENST00000340139, ENST00000451321, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 2 X 2=12
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MAK [Title/Abstract] AND INTS12 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneMAK

GO:0006468

protein phosphorylation

21986944

TgeneINTS12

GO:0016180

snRNA processing

16239144


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
TCGARVPRADTCGA-HC-8266-01AMAKchr6

10791908

-INTS12chr4

106604474

-
* 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-shiftENST00000354489ENST00000394735MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000354489ENST00000340139MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000354489ENST00000451321MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000313243ENST00000394735MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000313243ENST00000340139MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000313243ENST00000451321MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000474039ENST00000394735MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000474039ENST00000340139MAKchr6

10791908

-INTS12chr4

106604474

-
In-frameENST00000474039ENST00000451321MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000538030ENST00000394735MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000538030ENST00000340139MAKchr6

10791908

-INTS12chr4

106604474

-
Frame-shiftENST00000538030ENST00000451321MAKchr6

10791908

-INTS12chr4

106604474

-
intron-3CDSENST00000536370ENST00000394735MAKchr6

10791908

-INTS12chr4

106604474

-
intron-3CDSENST00000536370ENST00000340139MAKchr6

10791908

-INTS12chr4

106604474

-
intron-3CDSENST00000536370ENST00000451321MAKchr6

10791908

-INTS12chr4

106604474

-

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FusionProtFeatures for MAK_INTS12


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

P20794

INTS12

Q96CB8

Essential for the regulation of ciliary length andrequired for the long-term survival of photoreceptors (Bysimilarity). Phosphorylates FZR1 in a cell cycle-dependent manner.Plays a role in the transcriptional coactivation of AR. Could playan important function in spermatogenesis. May play a role inchromosomal stability in prostate cancer cells. {ECO:0000250,ECO:0000269|PubMed:12084720, ECO:0000269|PubMed:16951154,ECO:0000269|PubMed:21986944}. Component of the Integrator complex, a complex involvedin the small nuclear RNAs (snRNA) U1 and U2 transcription and intheir 3'-box-dependent processing. The Integrator complex isassociated with the C-terminal domain (CTD) of RNA polymerase IIlargest subunit (POLR2A) and is recruited to the U1 and U2 snRNAsgenes (PubMed:16239144). Mediates recruitment of cytoplasmicdynein to the nuclear envelope, probably as component of the INTcomplex (PubMed:23904267). {ECO:0000269|PubMed:16239144,ECO:0000269|PubMed:23904267}.

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 MAK_INTS12


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.
>In-frame_MAK_ENST00000474039_chr6_10791908_-_INTS12_ENST00000451321_chr4_106604474_-_633aa
MNRYTTMRQLGDGTYGSVLMGKSNESGELVAIKRMKRKFYSWDECMNLREVKSLKKLNHANVIKLKEVIRENDHLYFIFEYMKENLYQLM
KDRNKLFPESVIRNIMYQILQGLAFIHKHGFFHRDMKPENLLCMGPELVKIADFGLARELRSQPPYTDYVSTRWYRAPEVLLRSSVYSSP
IDVWAVGSIMAELYMLRPLFPGTSEVDEIFKICQVLGTPKKSDWPEGYQLASSMNFRFPQCVPINLKTLIPNASNEAIQLMTEMLNWDPK
KRPTASQALKHPYFQVGQVLGPSSNHLESKQSLNKQLQPLESKPSLVEVEPKPLPDIIDQVVGQPQPKTSQQPLQPIQPPQNLSVQQPPK
QQSQEKPPQTLFPSIVKNMPTKPNGTLSHKSGRRRWGQTIFKSGDSWEELEDYDFGASHSKKPSMGVFKEKRKKDSPFRHPQLFQEILLV
PAFPRQXLVAXLDGQLLQPKLPLLVLQQQNXVQQHKTILGNLLLRQLTRNLWVXLVWQHHPKVEXVPKXVPITALRPLYLXNHLHLXPWV
KLALVAQLVVTMSAKXVFLVQVVXFQEAAANXVGMEIVEHQDLVEVLPAKLLQNPAALPQHPLKAQLHKNHSSMLXSDYRWSRRKLPKRN


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MAK_ENST00000474039_chr6_10791908_-_INTS12_ENST00000451321_chr4_106604474_-_1901nt
ATGAACCGATACACAACCATGAGACAGTTGGGGGACGGCACGTATGGGAGTGTGCTTATGGGCAAGAGTAATGAATCCGGGGAGCTGGTG
GCCATCAAAAGGATGAAGAGAAAGTTCTATTCTTGGGATGAATGCATGAACTTGAGAGAAGTTAAGTCTCTGAAGAAACTTAATCATGCC
AATGTTATTAAATTGAAAGAAGTTATCAGAGAAAATGACCATCTTTATTTTATATTTGAATATATGAAAGAAAACCTCTATCAATTAATG
AAAGACAGAAACAAGTTGTTCCCTGAATCAGTCATCAGAAATATTATGTATCAAATATTGCAAGGGCTGGCTTTTATCCATAAACATGGC
TTTTTTCATAGGGACATGAAACCAGAAAACTTGCTTTGTATGGGTCCAGAGCTTGTGAAAATTGCTGATTTTGGACTTGCAAGAGAATTA
AGGTCACAGCCACCATACACTGATTATGTATCTACCAGATGGTATCGTGCCCCTGAAGTTTTACTGAGATCTTCAGTTTATAGTTCTCCC
ATTGATGTGTGGGCTGTTGGAAGTATCATGGCTGAACTCTATATGTTAAGGCCACTTTTCCCAGGGACAAGTGAGGTCGATGAAATCTTT
AAAATTTGCCAAGTTTTAGGGACTCCCAAAAAAAGTGACTGGCCAGAAGGATACCAGCTGGCATCCTCTATGAACTTCCGTTTTCCCCAG
TGTGTTCCTATAAACTTAAAAACTCTTATTCCCAATGCCAGTAATGAAGCTATTCAGCTCATGACCGAAATGTTGAATTGGGATCCAAAG
AAACGACCGACAGCAAGCCAGGCATTGAAACACCCATATTTTCAAGTTGGTCAGGTATTAGGCCCTTCGTCAAATCATCTGGAATCAAAA
CAGTCTTTAAATAAGCAGCTGCAACCATTAGAATCAAAGCCATCTTTAGTTGAGGTAGAGCCTAAGCCTCTGCCGGATATAATCGATCAG
GTTGTTGGACAACCCCAGCCAAAAACTAGCCAGCAGCCACTGCAGCCCATTCAGCCGCCACAGAACCTGAGCGTCCAGCAACCTCCAAAG
CAACAGAGTCAGGAGAAACCGCCACAAACGCTATTCCCGAGCATCGTCAAAAACATGCCAACTAAGCCAAATGGCACACTGAGTCATAAA
AGTGGTAGGAGGCGTTGGGGTCAGACTATCTTCAAGTCTGGAGATAGCTGGGAAGAGTTGGAGGACTATGATTTCGGAGCCTCCCATTCC
AAGAAGCCAAGCATGGGTGTTTTTAAAGAAAAAAGGAAAAAAGATTCTCCATTTCGACATCCACAGTTATTTCAGGAAATTCTTCTAGTG
CCAGCGTTTCCTCGTCAGTAACTAGTGGCTTAACTGGATGGGCAGCTTTTGCAGCCAAAACTTCCTCTGCTGGTCCTTCAACAGCAAAAT
TGAGTTCAACAACACAAAACAATACTGGGAAACCTGCTACTTCGTCAGCTAACCAGAAACCTGTGGGTTTGACTGGTCTGGCAACATCAT
CCAAAGGTGGAATAGGTTCCAAAATAGGTTCCAATAACAGCACTACGCCCACTGTACCTTTAAAACCACCTCCACCTCTAACCTTGGGTA
AAACTGGCCTTAGTCGCTCAGTTAGTTGTGACAATGTCAGCAAAGTAGGTCTTCCTAGTCCAAGTAGTTTAGTTCCAGGAAGCAGCAGCC
AACTAAGTGGGAATGGAAATAGTGGAACATCAGGACCTAGTGGAAGTACTACCAGCAAAACTACTTCAGAATCCAGCAGCTCTCCCTCAG
CATCCCTTAAAGGCCCAACTTCACAAGAATCACAGCTCAATGCTATGAAGCGATTACAGATGGTCAAGAAGAAAGCTGCCCAAAAGAAAC


* Fusion transcript sequences (Full-length transcript).
>In-frame_MAK_ENST00000474039_chr6_10791908_-_INTS12_ENST00000451321_chr4_106604474_-_2265nt
CGCCGGAGCTTCACAAGGGAGCGAACGAGGGTGTTTATAAGAATGGAAGTGTTGTTTCCTTGCCCGATTCCTTCATGCTATATCTCATGA
ACCTCTGTAATCTTGGGGGAGAGACTATATTTAATGATGACAAACCTGTCACCAGTGTAGCAACAACAGTGTGAGGACAAAAGCAAATAA
AAATTAAGAAGCGTTCAAATTTATATTCAACAAGGAAGTCATTTCAATCAACAACTTCTGCTGCATTATTTTTCCAAGATGAACCGATAC
ACAACCATGAGACAGTTGGGGGACGGCACGTATGGGAGTGTGCTTATGGGCAAGAGTAATGAATCCGGGGAGCTGGTGGCCATCAAAAGG
ATGAAGAGAAAGTTCTATTCTTGGGATGAATGCATGAACTTGAGAGAAGTTAAGTCTCTGAAGAAACTTAATCATGCCAATGTTATTAAA
TTGAAAGAAGTTATCAGAGAAAATGACCATCTTTATTTTATATTTGAATATATGAAAGAAAACCTCTATCAATTAATGAAAGACAGAAAC
AAGTTGTTCCCTGAATCAGTCATCAGAAATATTATGTATCAAATATTGCAAGGGCTGGCTTTTATCCATAAACATGGCTTTTTTCATAGG
GACATGAAACCAGAAAACTTGCTTTGTATGGGTCCAGAGCTTGTGAAAATTGCTGATTTTGGACTTGCAAGAGAATTAAGGTCACAGCCA
CCATACACTGATTATGTATCTACCAGATGGTATCGTGCCCCTGAAGTTTTACTGAGATCTTCAGTTTATAGTTCTCCCATTGATGTGTGG
GCTGTTGGAAGTATCATGGCTGAACTCTATATGTTAAGGCCACTTTTCCCAGGGACAAGTGAGGTCGATGAAATCTTTAAAATTTGCCAA
GTTTTAGGGACTCCCAAAAAAAGTGACTGGCCAGAAGGATACCAGCTGGCATCCTCTATGAACTTCCGTTTTCCCCAGTGTGTTCCTATA
AACTTAAAAACTCTTATTCCCAATGCCAGTAATGAAGCTATTCAGCTCATGACCGAAATGTTGAATTGGGATCCAAAGAAACGACCGACA
GCAAGCCAGGCATTGAAACACCCATATTTTCAAGTTGGTCAGGTATTAGGCCCTTCGTCAAATCATCTGGAATCAAAACAGTCTTTAAAT
AAGCAGCTGCAACCATTAGAATCAAAGCCATCTTTAGTTGAGGTAGAGCCTAAGCCTCTGCCGGATATAATCGATCAGGTTGTTGGACAA
CCCCAGCCAAAAACTAGCCAGCAGCCACTGCAGCCCATTCAGCCGCCACAGAACCTGAGCGTCCAGCAACCTCCAAAGCAACAGAGTCAG
GAGAAACCGCCACAAACGCTATTCCCGAGCATCGTCAAAAACATGCCAACTAAGCCAAATGGCACACTGAGTCATAAAAGTGGTAGGAGG
CGTTGGGGTCAGACTATCTTCAAGTCTGGAGATAGCTGGGAAGAGTTGGAGGACTATGATTTCGGAGCCTCCCATTCCAAGAAGCCAAGC
ATGGGTGTTTTTAAAGAAAAAAGGAAAAAAGATTCTCCATTTCGACATCCACAGTTATTTCAGGAAATTCTTCTAGTGCCAGCGTTTCCT
CGTCAGTAACTAGTGGCTTAACTGGATGGGCAGCTTTTGCAGCCAAAACTTCCTCTGCTGGTCCTTCAACAGCAAAATTGAGTTCAACAA
CACAAAACAATACTGGGAAACCTGCTACTTCGTCAGCTAACCAGAAACCTGTGGGTTTGACTGGTCTGGCAACATCATCCAAAGGTGGAA
TAGGTTCCAAAATAGGTTCCAATAACAGCACTACGCCCACTGTACCTTTAAAACCACCTCCACCTCTAACCTTGGGTAAAACTGGCCTTA
GTCGCTCAGTTAGTTGTGACAATGTCAGCAAAGTAGGTCTTCCTAGTCCAAGTAGTTTAGTTCCAGGAAGCAGCAGCCAACTAAGTGGGA
ATGGAAATAGTGGAACATCAGGACCTAGTGGAAGTACTACCAGCAAAACTACTTCAGAATCCAGCAGCTCTCCCTCAGCATCCCTTAAAG
GCCCAACTTCACAAGAATCACAGCTCAATGCTATGAAGCGATTACAGATGGTCAAGAAGAAAGCTGCCCAAAAGAAACTCAAGAAGTAAT
GTGGCCAAGTAGGTTTTTGTATCATATTAGCCTAAAGATGAAAGGCTTATTATTATGATATAATCTGTAATACACTGTAATTTAATAAAA


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FusionGenePPI for MAK_INTS12


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
MAKMAK, CDK20, FZR1, APP, SLAMF7, SERINC1, ANAPC11, NDUFB7, PPP2CB, SND1, PVRL3, FLG, ICK, KIAA0556, PRDX2INTS12INTS1, INTS3, INTS5, INTS6, INTS10, APP, POLR2C, BSG, TAS2R7, KIR2DS2, SLAMF1, ST8SIA1, TGOLN2, ALDH3A2, PPP2CA, PPP2CB, PPP2R1A, VWA9, NELFA, FOXJ2, USP37, APLNR, IL13RA2, EDNRB, ILVBL, ARL13A, MAS1, F2RL1, FZD10, ST6GAL1, DKKL1, KDELR3, GTF2IRD1


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 MAK_INTS12


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MAK_INTS12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAKC3280042RETINITIS PIGMENTOSA 621UNIPROT