FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 21245

FusionGeneSummary for MBTD1_THRA

check button Fusion gene summary
Fusion gene informationFusion gene name: MBTD1_THRA
Fusion gene ID: 21245
HgeneTgene
Gene symbol

MBTD1

THRA

Gene ID

54799

7067

Gene namembt domain containing 1thyroid hormone receptor alpha
SynonymsSA49P01AR7|CHNG6|EAR7|ERB-T-1|ERBA|ERBA1|NR1A1|THRA1|THRA2|c-ERBA-1
Cytomap

17q21.33

17q21.1

Type of geneprotein-codingprotein-coding
DescriptionMBT domain-containing protein 1thyroid hormone receptor alphaEAR-7ERBA-related 7V-erbA-related protein 7c-erbA-alphanuclear receptor subfamily 1 group A member 1thyroid hormone receptor alpha 1thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homo
Modification date2018051920180523
UniProtAcc

Q05BQ5

P10827

Ensembl transtripts involved in fusion geneENST00000586178, ENST00000415868, 
ENST00000376381, ENST00000593259, 
ENST00000394121, ENST00000264637, 
ENST00000584985, ENST00000450525, 
ENST00000546243, 
Fusion gene scores* DoF score8 X 4 X 7=2246 X 5 X 5=150
# samples 98
** MAII scorelog2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/150*10)=-0.906890595608519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBTD1 [Title/Abstract] AND THRA [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
TgeneTHRA

GO:0006357

regulation of transcription by RNA polymerase II

18052923

TgeneTHRA

GO:0006366

transcription by RNA polymerase II

8710870|9653119

TgeneTHRA

GO:0009755

hormone-mediated signaling pathway

18052923

TgeneTHRA

GO:0017055

negative regulation of RNA polymerase II transcriptional preinitiation complex assembly

8524305

TgeneTHRA

GO:0045892

negative regulation of transcription, DNA-templated

8710870

TgeneTHRA

GO:2000143

negative regulation of DNA-templated transcription, initiation

8524305


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
TCGARVESCATCGA-L5-A8NG-01AMBTD1chr17

49336504

-THRAchr17

38240088

+
* 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-3CDSENST00000586178ENST00000394121MBTD1chr17

49336504

-THRAchr17

38240088

+
5UTR-3CDSENST00000586178ENST00000264637MBTD1chr17

49336504

-THRAchr17

38240088

+
5UTR-3CDSENST00000586178ENST00000584985MBTD1chr17

49336504

-THRAchr17

38240088

+
5UTR-3CDSENST00000586178ENST00000450525MBTD1chr17

49336504

-THRAchr17

38240088

+
5UTR-3CDSENST00000586178ENST00000546243MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000415868ENST00000394121MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000415868ENST00000264637MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000415868ENST00000584985MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000415868ENST00000450525MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000415868ENST00000546243MBTD1chr17

49336504

-THRAchr17

38240088

+
5UTR-3CDSENST00000376381ENST00000394121MBTD1chr17

49336504

-THRAchr17

38240088

+
5UTR-3CDSENST00000376381ENST00000264637MBTD1chr17

49336504

-THRAchr17

38240088

+
5UTR-3CDSENST00000376381ENST00000584985MBTD1chr17

49336504

-THRAchr17

38240088

+
5UTR-3CDSENST00000376381ENST00000450525MBTD1chr17

49336504

-THRAchr17

38240088

+
5UTR-3CDSENST00000376381ENST00000546243MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000593259ENST00000394121MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000593259ENST00000264637MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000593259ENST00000584985MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000593259ENST00000450525MBTD1chr17

49336504

-THRAchr17

38240088

+
intron-3CDSENST00000593259ENST00000546243MBTD1chr17

49336504

-THRAchr17

38240088

+

Top

FusionProtFeatures for MBTD1_THRA


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

Q05BQ5

THRA

P10827

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}. Isoform Alpha-1: Nuclear hormone receptor that can actas a repressor or activator of transcription. High affinityreceptor for thyroid hormones, including triiodothyronine andthyroxine. {ECO:0000269|PubMed:12699376,ECO:0000269|PubMed:14673100, ECO:0000269|PubMed:18237438,ECO:0000269|PubMed:19926848}. Isoform Alpha-2: Does not bind thyroid hormone andfunctions as a weak dominant negative inhibitor of thyroid hormoneaction. {ECO:0000269|PubMed:8910441}.

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


Top

FusionGeneSequence for MBTD1_THRA


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).

Top

FusionGenePPI for MBTD1_THRA


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, MYCLTHRANCOA6, TDG, CCND1, MEF2A, EP300, YWHAQ, ITGB3BP, POU2F1, DAP3, NR0B2, NRIP1, HR, AKAP13, MED12, MED16, MED6, MED24, CDK8, MED21, TRIM24, COPS2, TRIP11, RXRA, MED1, FUS, HDAC3, NCOR1, ZBTB3, SUV39H1, PARP1, NCOA1, NCOA2, NCOA3, TAF11, TAF7, GRIP1, NCOR2, EMD, PRKDC, SMC1A, LIG3, XRCC5, XRCC6, HSPA4, TBL1XR1, GPS2, TBL1X, CUL1, RGN, SEPP1, CDK7, MED25, ARID5A, GTF2B, C1D, THRA, CLIC1, FOXJ1, BUB3, PTGES3, RANBP9, AMOTL2, L3MBTL3, ENO1, MOV10, NXF1, UBE2I, CEP76, TRIM63, A2ML1, HAL, CST6, MTNR1B


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


Top

RelatedDrugs for MBTD1_THRA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTHRAP10827DB00451LevothyroxineThyroid hormone receptor alphasmall moleculeapproved
TgeneTHRAP10827DB00509DextrothyroxineThyroid hormone receptor alphasmall moleculeapproved|investigational
TgeneTHRAP10827DB01118AmiodaroneThyroid hormone receptor alphasmall moleculeapproved|investigational
TgeneTHRAP10827DB00279LiothyronineThyroid hormone receptor alphasmall moleculeapproved|vet_approved

Top

RelatedDiseases for MBTD1_THRA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTHRAC3280817HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 62UNIPROT
TgeneTHRAC0014175Endometriosis1CTD_human
TgeneTHRAC0019284Diaphragmatic Hernia1CTD_human