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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: 21242

FusionGeneSummary for MBTD1_PHB

check button Fusion gene summary
Fusion gene informationFusion gene name: MBTD1_PHB
Fusion gene ID: 21242
HgeneTgene
Gene symbol

MBTD1

PHB

Gene ID

54799

5245

Gene namembt domain containing 1prohibitin
SynonymsSA49P01HEL-215|HEL-S-54e|PHB1
Cytomap

17q21.33

17q21.33

Type of geneprotein-codingprotein-coding
DescriptionMBT domain-containing protein 1prohibitinepididymis luminal protein 215epididymis secretory sperm binding protein Li 54e
Modification date2018051920180519
UniProtAcc

Q05BQ5

P35232

Ensembl transtripts involved in fusion geneENST00000586178, ENST00000415868, 
ENST00000376381, ENST00000593259, 
ENST00000300408, ENST00000511832, 
ENST00000508009, 
Fusion gene scores* DoF score8 X 4 X 7=2246 X 3 X 4=72
# samples 96
** MAII scorelog2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBTD1 [Title/Abstract] AND PHB [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
TgenePHB

GO:0000122

negative regulation of transcription by RNA polymerase II

16964284

TgenePHB

GO:0006355

regulation of transcription, DNA-templated

14500729

TgenePHB

GO:0010944

negative regulation of transcription by competitive promoter binding

18487222

TgenePHB

GO:0016575

histone deacetylation

12466959

TgenePHB

GO:0045892

negative regulation of transcription, DNA-templated

12065415|12566959

TgenePHB

GO:0045893

positive regulation of transcription, DNA-templated

14500729

TgenePHB

GO:0045917

positive regulation of complement activation

17070910

TgenePHB

GO:0050847

progesterone receptor signaling pathway

16964284

TgenePHB

GO:0060766

negative regulation of androgen receptor signaling pathway

16964284

TgenePHB

GO:0071354

cellular response to interleukin-6

17324931

TgenePHB

GO:2000323

negative regulation of glucocorticoid receptor signaling pathway

16964284


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
TCGALDLUADTCGA-50-6595-01AMBTD1chr17

49336504

-PHBchr17

47490653

-
* 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
5UTR-5UTRENST00000586178ENST00000300408MBTD1chr17

49336504

-PHBchr17

47490653

-
5UTR-5UTRENST00000586178ENST00000511832MBTD1chr17

49336504

-PHBchr17

47490653

-
5UTR-intronENST00000586178ENST00000508009MBTD1chr17

49336504

-PHBchr17

47490653

-
intron-5UTRENST00000415868ENST00000300408MBTD1chr17

49336504

-PHBchr17

47490653

-
intron-5UTRENST00000415868ENST00000511832MBTD1chr17

49336504

-PHBchr17

47490653

-
intron-intronENST00000415868ENST00000508009MBTD1chr17

49336504

-PHBchr17

47490653

-
5UTR-5UTRENST00000376381ENST00000300408MBTD1chr17

49336504

-PHBchr17

47490653

-
5UTR-5UTRENST00000376381ENST00000511832MBTD1chr17

49336504

-PHBchr17

47490653

-
5UTR-intronENST00000376381ENST00000508009MBTD1chr17

49336504

-PHBchr17

47490653

-
intron-5UTRENST00000593259ENST00000300408MBTD1chr17

49336504

-PHBchr17

47490653

-
intron-5UTRENST00000593259ENST00000511832MBTD1chr17

49336504

-PHBchr17

47490653

-
intron-intronENST00000593259ENST00000508009MBTD1chr17

49336504

-PHBchr17

47490653

-

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FusionProtFeatures for MBTD1_PHB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MBTD1

Q05BQ5

PHB

P35232

Putative Polycomb group (PcG) protein. PcG proteinsmaintain the transcriptionally repressive state of genes, probablyvia a modification of chromatin, rendering it heritably changed inits expressibility (By similarity). Specifically binds tomonomethylated and dimethylated 'Lys-20' on histone H4.{ECO:0000250, ECO:0000269|PubMed:19841675}. Prohibitin inhibits DNA synthesis. It has a role inregulating proliferation. As yet it is unclear if the protein orthe mRNA exhibits this effect. May play a role in regulatingmitochondrial respiration activity and in aging.{ECO:0000269|PubMed:11302691}.

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 MBTD1_PHB


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 MBTD1_PHB


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
MBTD1MORF4L1, MORF4L2, MRGBP, COPS6, PLAC1, PSME3, FOXR1, FOXR2, KAT5, HIST1H2BA, YEATS4, EPC1, TRRAP, EP400, BRD8, EPC2, DMAP1, ING3, RUVBL1, RUVBL2, VPS72, ACTB, MEAF6, ACTL6A, H2AFZ, HIST1H2BB, HIST1H4A, MYCLPHBE2F1, HDAC1, TP53, ANXA2, ACTN1, NCOR1, SIN3A, SMARCA4, SMARCA2, RAF1, RB1, RBL2, RBL1, BRE, MYOD1, CLN3, AR, MGMT, ESR1, PHB2, RNF2, UBC, ICT1, CD4, HDAC5, SKP2, CUL3, CDK2, SYNCRIP, UQCRC2, XPO1, YWHAE, EPAS1, TRAF3IP1, FN1, VCAM1, C1QBP, ATF2, UBL4A, ITGA4, SLC25A5, RPL7, YWHAB, IPO11, VDAC2, RPS4X, COL9A2, IGHG1, CAPZA1, NPM1, ACTB, LMNA, SMG5, PLEC, GTF3C1, RAPH1, HSP90AB1, DBN1, PRKCD, YWHAZ, KRAS, ADRB2, LONRF3, COX6C, NAP1L1, FBXO6, PARP1, STAU1, SPRTN, HUWE1, FUS, CUL7, OBSL1, CCDC8, SUZ12, EED, RIC3, ATL3, BCAP29, BCAP31, AFG3L2, ATP1A1, ATP5B, ATP5L, CLTC, COX4I1, CYC1, DDOST, GOSR2, HSD17B10, HSD17B12, LMAN1, MTCH2, COX2, NDUFB4, OLA1, RAB1A, RAB1B, RAB2A, SCAMP2, SSR1, STOML2, TAGLN2, TPD52, UQCRQ, VCP, VDAC1, VDAC3, SSR3, NTRK1, FAP, BCAS3, CASC3, CCL5, ST14, MED20, MED23, PTPN1, RAB5C, TMPO, RAB7A, AKAP1, RAB11A, VAPA, EMC2, MTX2, FGFR1OP2, GOLT1B, TMEM63B, YIPF5, MMGT1, NF2, ESRRB, U2AF2, ARMC7, ZNF746, YIPF3, C11orf73, TPTE, STOM, CYLD


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 MBTD1_PHB


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 MBTD1_PHB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePHBC0038356Stomach Neoplasms2CTD_human
TgenePHBC0001418Adenocarcinoma1CTD_human
TgenePHBC0014859Esophageal Neoplasms1CTD_human
TgenePHBC0024667Animal Mammary Neoplasms1CTD_human
TgenePHBC0024668Mammary Neoplasms, Experimental1CTD_human
TgenePHBC0032927Precancerous Conditions1CTD_human
TgenePHBC0033941Psychoses, Substance-Induced1CTD_human
TgenePHBC0036341Schizophrenia1CTD_human
TgenePHBC2239176Liver carcinoma1CTD_human