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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: 21172

FusionGeneSummary for MB21D2_CEP19

check button Fusion gene summary
Fusion gene informationFusion gene name: MB21D2_CEP19
Fusion gene ID: 21172
HgeneTgene
Gene symbol

MB21D2

CEP19

Gene ID

151963

84984

Gene nameMab-21 domain containing 2centrosomal protein 19
SynonymsC3orf59C3orf34|MOSPGF
Cytomap

3q29

3q29

Type of geneprotein-codingprotein-coding
Descriptionprotein MB21D2mab-21 domain-containing protein 2centrosomal protein of 19 kDacentrosomal protein 19kDa
Modification date2018052220180519
UniProtAcc

Q8IYB1

Q96LK0

Ensembl transtripts involved in fusion geneENST00000392452, ENST00000409690, 
ENST00000399942, 
Fusion gene scores* DoF score3 X 2 X 3=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: MB21D2 [Title/Abstract] AND CEP19 [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

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
TCGALDLGGTCGA-DU-A7TA-01AMB21D2chr3

192635419

-CEP19chr3

196434783

-
* 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
In-frameENST00000392452ENST00000409690MB21D2chr3

192635419

-CEP19chr3

196434783

-
In-frameENST00000392452ENST00000399942MB21D2chr3

192635419

-CEP19chr3

196434783

-

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FusionProtFeatures for MB21D2_CEP19


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MB21D2

Q8IYB1

CEP19

Q96LK0

Required for ciliation (PubMed:28625565,PubMed:28428259, PubMed:28659385). Recruits the RABL2B GTPase tothe ciliary base to initiate ciliation. After specificallycapturing the activated GTP-bound RABL2B, the CEP19-RABL2B complexbinds intraflagellar transport (IFT) complex B from the large poolpre-docked at the base of the cilium and thus triggers its entryinto the cilia (PubMed:28625565, PubMed:28428259). Involved in theearly steps in cilia formation by recruiting the ciliary vesicles(CVs) to the distal end of the mother centriole where they fuse toinitiate cilium assembly. Involved in microtubule (MT) anchoringto the centrosomes (PubMed:28659385).{ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565,ECO:0000269|PubMed:28659385}.

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 MB21D2_CEP19


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_MB21D2_ENST00000392452_chr3_192635419_-_CEP19_ENST00000409690_chr3_196434783_-_191aa
MKMAAPTANKAASLGCNNKPAFPELDFRSGARVEELNKLIQEFTKHDQREYDDQRALEIHTAKDFIFSMLDCTRAAEQLKNNPRHKSYLE
QVSLRQLEKLFSFLRGYLSGQSLAETMEQIQRETTIDPEEDLNKLDDKELAKRKSIMDELFEKNQKKKDDPNFVTDIEVEFPQDDQLQSC

>In-frame_MB21D2_ENST00000392452_chr3_192635419_-_CEP19_ENST00000399942_chr3_196434783_-_191aa
MKMAAPTANKAASLGCNNKPAFPELDFRSGARVEELNKLIQEFTKHDQREYDDQRALEIHTAKDFIFSMLDCTRAAEQLKNNPRHKSYLE
QVSLRQLEKLFSFLRGYLSGQSLAETMEQIQRETTIDPEEDLNKLDDKELAKRKSIMDELFEKNQKKKDDPNFVTDIEVEFPQDDQLQSC


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MB21D2_ENST00000392452_chr3_192635419_-_CEP19_ENST00000409690_chr3_196434783_-_573nt
ATGAAGATGGCGGCTCCCACCGCCAACAAGGCAGCCTCCCTGGGCTGTAACAACAAGCCTGCGTTCCCGGAGCTGGATTTCAGGTCGGGA
GCTCGGGTGGAGGAATTGAACAAACTCATCCAAGAATTTACGAAGCACGACCAGCGGGAATACGACGACCAGAGAGCGCTGGAGATTCAC
ACAGCCAAGGATTTCATCTTTTCCATGCTGGATTGCACCAGAGCTGCTGAACAATTAAAGAATAATCCGCGACACAAGAGTTACCTAGAA
CAAGTATCCCTGAGGCAGCTAGAGAAGCTATTCAGTTTTTTACGAGGTTACTTGTCGGGGCAGAGTCTGGCAGAAACAATGGAACAAATT
CAACGGGAAACAACCATTGATCCTGAGGAAGACCTGAACAAACTAGATGACAAGGAGCTTGCCAAAAGAAAGAGCATCATGGATGAACTT
TTTGAGAAAAATCAGAAGAAGAAGGATGATCCAAATTTTGTTTATGACATTGAGGTTGAATTTCCACAGGACGATCAACTGCAGTCCTGT

>In-frame_MB21D2_ENST00000392452_chr3_192635419_-_CEP19_ENST00000399942_chr3_196434783_-_573nt
ATGAAGATGGCGGCTCCCACCGCCAACAAGGCAGCCTCCCTGGGCTGTAACAACAAGCCTGCGTTCCCGGAGCTGGATTTCAGGTCGGGA
GCTCGGGTGGAGGAATTGAACAAACTCATCCAAGAATTTACGAAGCACGACCAGCGGGAATACGACGACCAGAGAGCGCTGGAGATTCAC
ACAGCCAAGGATTTCATCTTTTCCATGCTGGATTGCACCAGAGCTGCTGAACAATTAAAGAATAATCCGCGACACAAGAGTTACCTAGAA
CAAGTATCCCTGAGGCAGCTAGAGAAGCTATTCAGTTTTTTACGAGGTTACTTGTCGGGGCAGAGTCTGGCAGAAACAATGGAACAAATT
CAACGGGAAACAACCATTGATCCTGAGGAAGACCTGAACAAACTAGATGACAAGGAGCTTGCCAAAAGAAAGAGCATCATGGATGAACTT
TTTGAGAAAAATCAGAAGAAGAAGGATGATCCAAATTTTGTTTATGACATTGAGGTTGAATTTCCACAGGACGATCAACTGCAGTCCTGT


* Fusion transcript sequences (Full-length transcript).
>In-frame_MB21D2_ENST00000392452_chr3_192635419_-_CEP19_ENST00000409690_chr3_196434783_-_2168nt
AGTTGGCTCTACGACCGCCGTTGCCGCTGCCAGAGAGGGCCAGGGCAGGGCAGGGACGCGCAGCATCGGGGCGGGCGTGGGGCCGGAGAA
AAGGGTGTCGGGGCCACACACGCACCCTCGCTGCAGTCCAGCTCCTCCCGAAGCTCGCACGCCCAGAGCGCACGGAGCGGGGGACTGCCC
GCCCAGACGCCCGCCCGCCAACCCGCCCACGAGCCGGGGCCAAAGCCTGGGAGCCTGCGAGGGGAGGAGGCCCAGGGGGGCGGGGTGGGG
GGCGGGGGTGGGTGCCGCGCTGCCGCGGAGCTGCTACTCGGCGCGTTTTGCATGAAGATGGCGGCTCCCACCGCCAACAAGGCAGCCTCC
CTGGGCTGTAACAACAAGCCTGCGTTCCCGGAGCTGGATTTCAGGTCGGGAGCTCGGGTGGAGGAATTGAACAAACTCATCCAAGAATTT
ACGAAGCACGACCAGCGGGAATACGACGACCAGAGAGCGCTGGAGATTCACACAGCCAAGGATTTCATCTTTTCCATGCTGGATTGCACC
AGAGCTGCTGAACAATTAAAGAATAATCCGCGACACAAGAGTTACCTAGAACAAGTATCCCTGAGGCAGCTAGAGAAGCTATTCAGTTTT
TTACGAGGTTACTTGTCGGGGCAGAGTCTGGCAGAAACAATGGAACAAATTCAACGGGAAACAACCATTGATCCTGAGGAAGACCTGAAC
AAACTAGATGACAAGGAGCTTGCCAAAAGAAAGAGCATCATGGATGAACTTTTTGAGAAAAATCAGAAGAAGAAGGATGATCCAAATTTT
GTTTATGACATTGAGGTTGAATTTCCACAGGACGATCAACTGCAGTCCTGTGGCTGGGACACAGAGTCAGCTGATGAGTTCTGATACCAA
ACACTCAAAACATGCATTGGGCTAGCAGAATATCCATGTTTATTACCAGACTGGTTCTGGAAGAAGCTGTAAAGAATACTAAATATGTTG
GGTTATAGGGGATTGACCATGTTACTTTTCAAAACCAGGACATTTAAAGCATCTACTATGTAGGTGCATGAGGAGTATGGGAAAAACAGA
ATAAAGGAATCTGCCTTTAAGGAGCTTACAATCATGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG
TGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTG
GTGGCGGGTGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGATTCGCTTGAACCTGGGAGGCTGAGGTTGCAGTGAGCCGAGAT
CGCGCCATTGTACTCCAGCCTGGGCGATGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAGCTTACAATCTGACTGGAAGATGTC
AAAACCTGTGAAAAGCTAATTAGCAGTATTAAGCAACACAAACATTAGTGCCAAATGCATGATAAAGGCTAAAGAAGGCCAGAGCATATA
TTACTGTAGAGTAGAATAGTAAGGGAAGACTTTGTCCTTTAGTAAAGAGATAGGAGGTGGCCTGGCCCTTGAAATAGTAGTGTTTAGGTA
GATGCTTGTGTAGGATTCCTGATAAGAGCAACTGAAAAGAAGGAGAGGGGAAGTAGTAAAGGGACAAGAAACAATTTTTTTTTTGAGGAA
CCATAAGCAAATTATAGTTTGACAAGACAAGATTGGGGGACATATATGGTTACCAGGGAATTACCTCTTATGTGTTATATCTTTATATTA
TTTATCTCTGGAAAAGAGTACCCTGCAAAATTCCCTACAGCTGCAAGCAGATGTCACTTGATGGACAGAGGGGGAATTCTGCCCCTCCGG
TATCGGGAAATACATACTAAAGACATTGCGAAACGCTGAACCTCTTCCCATAAATAAAAGGTTTGTTTGTAAAATGGGAAATCCACCCAT
AATAAATGAACAATAGGCACTGCCAGTTTAGGCCTGTTCATGAATGGATCTGCAAGACAGCATCTTCGTTTAACAACATTATCTGTGATT
TGATACATTTATCCTTATTACAATATTGTTTAGTTGGTAGAAATTCTATGTTTTCTACAAGGAAATTGATGTTTATTAAATAAAACTGAA

>In-frame_MB21D2_ENST00000392452_chr3_192635419_-_CEP19_ENST00000399942_chr3_196434783_-_1384nt
AGTTGGCTCTACGACCGCCGTTGCCGCTGCCAGAGAGGGCCAGGGCAGGGCAGGGACGCGCAGCATCGGGGCGGGCGTGGGGCCGGAGAA
AAGGGTGTCGGGGCCACACACGCACCCTCGCTGCAGTCCAGCTCCTCCCGAAGCTCGCACGCCCAGAGCGCACGGAGCGGGGGACTGCCC
GCCCAGACGCCCGCCCGCCAACCCGCCCACGAGCCGGGGCCAAAGCCTGGGAGCCTGCGAGGGGAGGAGGCCCAGGGGGGCGGGGTGGGG
GGCGGGGGTGGGTGCCGCGCTGCCGCGGAGCTGCTACTCGGCGCGTTTTGCATGAAGATGGCGGCTCCCACCGCCAACAAGGCAGCCTCC
CTGGGCTGTAACAACAAGCCTGCGTTCCCGGAGCTGGATTTCAGGTCGGGAGCTCGGGTGGAGGAATTGAACAAACTCATCCAAGAATTT
ACGAAGCACGACCAGCGGGAATACGACGACCAGAGAGCGCTGGAGATTCACACAGCCAAGGATTTCATCTTTTCCATGCTGGATTGCACC
AGAGCTGCTGAACAATTAAAGAATAATCCGCGACACAAGAGTTACCTAGAACAAGTATCCCTGAGGCAGCTAGAGAAGCTATTCAGTTTT
TTACGAGGTTACTTGTCGGGGCAGAGTCTGGCAGAAACAATGGAACAAATTCAACGGGAAACAACCATTGATCCTGAGGAAGACCTGAAC
AAACTAGATGACAAGGAGCTTGCCAAAAGAAAGAGCATCATGGATGAACTTTTTGAGAAAAATCAGAAGAAGAAGGATGATCCAAATTTT
GTTTATGACATTGAGGTTGAATTTCCACAGGACGATCAACTGCAGTCCTGTGGCTGGGACACAGAGTCAGCTGATGAGTTCTGATACCAA
ACACTCAAAACATGCATTGGGCTAGCAGAATATCCATGTTTATTACCAGACTGGTTCTGGAAGAAGCTGTAAAGAATACTAAATATGTTG
GGTTATAGGGGATTGACCATGTTACTTTTCAAAACCAGGACATTTAAAGCATCTACTATGTAGGTGCATGAGGAGTATGGGAAAAACAGA
ATAAAGGAATCTGCCTTTAAGGAGCTTACAATCATGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG
TGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTG
GTGGCGGGTGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGATTCGCTTGAACCTGGGAGGCTGAGGTTGCAGTGAGCCGAGAT


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FusionGenePPI for MB21D2_CEP19


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
MB21D2AHI1, MKS1, CC2D2A, CEP170, CEP104, CNTROB, CEP128, CEP89, STIL, TMEM17, TMEM216, CENPJ, CDH1, KCNJ6, PTRF, RAB3IP, TRAPPC9, TRAPPC10, TRAPPC3, TRAPPC4, TRAPPC1, TRAPPC2L, TMEM102, PDLIM7, RAB3IL1CEP19KXD1, RABL2B, AK4, CREB3L2, REL, VCP, ZBTB14, FGFR1OP, RABL2A, CALCOCO1, CCDC102B, KIAA1958, SYNE4, PIK3R3, ABLIM1, ANAPC1, ANKRD28, AP3D1, R3HCC1L, RABL6, CC2D1A, CCT7, CDC123, CEP192, CEP350, CRK, DICER1, DVL1, DVL2, DVL3, ECD, EDC3, FERMT2, FKBP3, GTF3C3, HBS1L, ILKAP, INTS9, IPO9, KIFAP3, MAPRE1, METTL3, MGEA5, MSH2, MSH6, MTMR6, MTR, NCK2, NMT1, NT5C2, NUDT19, NVL, PARD3, PDCD4, PDLIM5, PIP4K2B, PKN2, PLEKHA1, PPP6C, PPP6R3, RNH1, SCYL3, SDAD1, SEC23IP, SMARCAD1, SRGAP2, SRP72, STK24, STRN4, TBCE, UNC45A, USP5, WASF2, WDR83, ZC3H15, ALDH3A2, AP3M1, COPB2, ELAC2, GNL3, GPATCH1, GPX1, HMGB2, IPO7, KCTD12, LTV1, MKL1, NCAPH, PIN1, PPP2R3C, PUS1, PWP2, RCOR3, SCRIB, SLTM, SRP9, SRPK1, TRIP12, TSR1, UPF1, YTHDF2, YTHDF3, ZNF280C


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 MB21D2_CEP19


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 MB21D2_CEP19


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