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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: 40066

FusionGeneSummary for TTYH2_APOO

check button Fusion gene summary
Fusion gene informationFusion gene name: TTYH2_APOO
Fusion gene ID: 40066
HgeneTgene
Gene symbol

TTYH2

APOO

Gene ID

94015

79135

Gene nametweety family member 2apolipoprotein O
SynonymsC17orf29FAM121B|MIC26|Mic23|My025
Cytomap

17q25.1

Xp22.11

Type of geneprotein-codingprotein-coding
Descriptionprotein tweety homolog 2hTTY2tweety homolog 2MICOS complex subunit MIC26MICOS complex subunit MIC23brain my025family with sequence similarity 121B
Modification date2018052320180519
UniProtAcc

Q9BSA4

Q9BUR5

Ensembl transtripts involved in fusion geneENST00000269346, ENST00000529107, 
ENST00000534346, ENST00000441391, 
ENST00000379226, ENST00000476598, 
ENST00000379220, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 5 X 5=125
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/125*10)=-0.643856189774725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TTYH2 [Title/Abstract] AND APOO [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
TCGALDOVTCGA-20-1687-01ATTYH2chr17

72227138

+APOOchrX

23858494

-
* 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-frameENST00000269346ENST00000379226TTYH2chr17

72227138

+APOOchrX

23858494

-
5CDS-5UTRENST00000269346ENST00000476598TTYH2chr17

72227138

+APOOchrX

23858494

-
5CDS-5UTRENST00000269346ENST00000379220TTYH2chr17

72227138

+APOOchrX

23858494

-
In-frameENST00000529107ENST00000379226TTYH2chr17

72227138

+APOOchrX

23858494

-
5CDS-5UTRENST00000529107ENST00000476598TTYH2chr17

72227138

+APOOchrX

23858494

-
5CDS-5UTRENST00000529107ENST00000379220TTYH2chr17

72227138

+APOOchrX

23858494

-
intron-3CDSENST00000534346ENST00000379226TTYH2chr17

72227138

+APOOchrX

23858494

-
intron-5UTRENST00000534346ENST00000476598TTYH2chr17

72227138

+APOOchrX

23858494

-
intron-5UTRENST00000534346ENST00000379220TTYH2chr17

72227138

+APOOchrX

23858494

-
intron-3CDSENST00000441391ENST00000379226TTYH2chr17

72227138

+APOOchrX

23858494

-
intron-5UTRENST00000441391ENST00000476598TTYH2chr17

72227138

+APOOchrX

23858494

-
intron-5UTRENST00000441391ENST00000379220TTYH2chr17

72227138

+APOOchrX

23858494

-

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FusionProtFeatures for TTYH2_APOO


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TTYH2

Q9BSA4

APOO

Q9BUR5

Probable large-conductance Ca(2+)-activated chloridechannel. May play a role in Ca(2+) signal transduction. May beinvolved in cell proliferation and cell aggregation.{ECO:0000269|PubMed:15010458}. Component of the MICOS complex, a large protein complexof the mitochondrial inner membrane that plays crucial roles inthe maintenance of crista junctions, inner membrane architecture,and formation of contact sites to the outer membrane. Plays acrucial role in crista junction formation and mitochondrialfunction (PubMed:25764979). Can promote cardiac lipotoxicity byenhancing mitochondrial respiration and fatty acid metabolism incardiac myoblasts (PubMed:24743151). Promotes cholesterol effluxfrom macrophage cells. Detected in HDL, LDL and VLDL. Secreted bya microsomal triglyceride transfer protein (MTTP)-dependentmechanism, probably as a VLDL-associated protein that issubsequently transferred to HDL (PubMed:16956892).{ECO:0000269|PubMed:16956892, ECO:0000269|PubMed:24743151,ECO:0000269|PubMed:25764979}.

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
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+3141_44138535Topological domainExtracellular
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+31466_87138535Topological domainCytoplasmic
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+31445_65138535TransmembraneHelical%3B Name%3D1
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+31488_108138535TransmembraneHelical%3B Name%3D2

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+314423_431138535Compositional biasNote=Poly-Asp
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+18423_431-404214Compositional biasNote=Poly-Asp
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+314109_213138535Topological domainExtracellular
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+314235_240138535Topological domainCytoplasmic
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+314262_388138535Topological domainExtracellular
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+314410_534138535Topological domainCytoplasmic
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+18109_213-404214Topological domainExtracellular
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+181_44-404214Topological domainExtracellular
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+18235_240-404214Topological domainCytoplasmic
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+18262_388-404214Topological domainExtracellular
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+18410_534-404214Topological domainCytoplasmic
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+1866_87-404214Topological domainCytoplasmic
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+314214_234138535TransmembraneHelical%3B Name%3D3
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+314241_261138535TransmembraneHelical%3B Name%3D4
HgeneTTYH2chr17:72227138chrX:23858494ENST00000269346+314389_409138535TransmembraneHelical%3B Name%3D5
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+18214_234-404214TransmembraneHelical%3B Name%3D3
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+18241_261-404214TransmembraneHelical%3B Name%3D4
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+18389_409-404214TransmembraneHelical%3B Name%3D5
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+1845_65-404214TransmembraneHelical%3B Name%3D1
HgeneTTYH2chr17:72227138chrX:23858494ENST00000441391+1888_108-404214TransmembraneHelical%3B Name%3D2
TgeneAPOOchr17:72227138chrX:23858494ENST00000379226-69108_128187191TransmembraneHelical


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FusionGeneSequence for TTYH2_APOO


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_TTYH2_ENST00000269346_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_150aa
MQAARVDYIAPWWVVWLHSVPHVGLRLQPVNSTFSPGDESYQESLLFLGLVAAVCLGLNLIFLVAYLVCACHCRRDDAVQTKQHHSCCIT

>In-frame_TTYH2_ENST00000529107_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_129aa
MSVVGQDRKSGSGCYLRWLLFLSLLFLGLVAAVCLGLNLIFLVAYLVCACHCRRDDAVQTKQHHSCCITWTAVVAGLICCAAVGVGFYGN


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_TTYH2_ENST00000269346_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_450nt
ATGCAGGCGGCGCGCGTGGACTACATCGCTCCCTGGTGGGTCGTGTGGCTGCACAGCGTCCCGCACGTCGGCCTGCGCCTGCAGCCCGTG
AACAGCACCTTCAGCCCCGGCGACGAGAGTTACCAGGAGTCGCTGCTGTTCCTGGGGCTGGTGGCCGCCGTCTGCCTGGGCCTGAACCTC
ATCTTCCTTGTGGCTTACCTGGTCTGTGCATGCCACTGCCGGCGGGACGATGCGGTGCAGACCAAGCAGCACCACTCCTGCTGCATCACC
TGGACGGCCGTGGTGGCCGGGCTCATCTGCTGTGCTGCGGTGGGCGTTGGTTTCTATGGAAACAGCGAGACCAACGATGGGGCGTACCAG
CTGATGTACTCCTTGGACGATGCCAACCACACCTTCTCTGGGATCGATGCTCTGCCAGGAAATGTGAAGAATTCACCTGGAACTAAGTAG

>In-frame_TTYH2_ENST00000529107_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_387nt
ATGAGCGTGGTGGGCCAGGACCGGAAGTCTGGCTCTGGGTGTTATTTAAGGTGGCTCCTGTTTTTGTCGCTGCTGTTCCTGGGGCTGGTG
GCCGCCGTCTGCCTGGGCCTGAACCTCATCTTCCTTGTGGCTTACCTGGTCTGTGCATGCCACTGCCGGCGGGACGATGCGGTGCAGACC
AAGCAGCACCACTCCTGCTGCATCACCTGGACGGCCGTGGTGGCCGGGCTCATCTGCTGTGCTGCGGTGGGCGTTGGTTTCTATGGAAAC
AGCGAGACCAACGATGGGGCGTACCAGCTGATGTACTCCTTGGACGATGCCAACCACACCTTCTCTGGGATCGATGCTCTGCCAGGAAAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_TTYH2_ENST00000269346_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_813nt
GGGCGGGCACGGGGCCCCGGCCGGGAGGTGAGCGCAGCTGTCGTTCAGCTTGTGGGTAGCACTCGGGCCGAGCCATGCAGGCGGCGCGCG
TGGACTACATCGCTCCCTGGTGGGTCGTGTGGCTGCACAGCGTCCCGCACGTCGGCCTGCGCCTGCAGCCCGTGAACAGCACCTTCAGCC
CCGGCGACGAGAGTTACCAGGAGTCGCTGCTGTTCCTGGGGCTGGTGGCCGCCGTCTGCCTGGGCCTGAACCTCATCTTCCTTGTGGCTT
ACCTGGTCTGTGCATGCCACTGCCGGCGGGACGATGCGGTGCAGACCAAGCAGCACCACTCCTGCTGCATCACCTGGACGGCCGTGGTGG
CCGGGCTCATCTGCTGTGCTGCGGTGGGCGTTGGTTTCTATGGAAACAGCGAGACCAACGATGGGGCGTACCAGCTGATGTACTCCTTGG
ACGATGCCAACCACACCTTCTCTGGGATCGATGCTCTGCCAGGAAATGTGAAGAATTCACCTGGAACTAAGTAGAAAACTCCATGCTCTG
CCATCTTAATCAGTTATAGGTAAACATTGGAAACTCCATAGAATAAATCAGTATTTCTACAGAAAAATGGCATAGAAGTCAGTATTGAAT
GTATTAAATTGGCTTTCTTCTTCAGGAAAAACTAGACCAGACCTCTGTTATCTTCTGTGAAATCATCCTACAAGCAAACTAACCTGGAAT
CCCTTCACCTAGAGATAATGTACAAGCCTTAGAACTCCTCATTCTCATGTTGCTATTTATGTACCTAATTAAAACCCAAGTTAAAAAAAA

>In-frame_TTYH2_ENST00000529107_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_707nt
CCTCACCACCACTCAGATCGCTGAGTAGGAGATGAGCGTGGTGGGCCAGGACCGGAAGTCTGGCTCTGGGTGTTATTTAAGGTGGCTCCT
GTTTTTGTCGCTGCTGTTCCTGGGGCTGGTGGCCGCCGTCTGCCTGGGCCTGAACCTCATCTTCCTTGTGGCTTACCTGGTCTGTGCATG
CCACTGCCGGCGGGACGATGCGGTGCAGACCAAGCAGCACCACTCCTGCTGCATCACCTGGACGGCCGTGGTGGCCGGGCTCATCTGCTG
TGCTGCGGTGGGCGTTGGTTTCTATGGAAACAGCGAGACCAACGATGGGGCGTACCAGCTGATGTACTCCTTGGACGATGCCAACCACAC
CTTCTCTGGGATCGATGCTCTGCCAGGAAATGTGAAGAATTCACCTGGAACTAAGTAGAAAACTCCATGCTCTGCCATCTTAATCAGTTA
TAGGTAAACATTGGAAACTCCATAGAATAAATCAGTATTTCTACAGAAAAATGGCATAGAAGTCAGTATTGAATGTATTAAATTGGCTTT
CTTCTTCAGGAAAAACTAGACCAGACCTCTGTTATCTTCTGTGAAATCATCCTACAAGCAAACTAACCTGGAATCCCTTCACCTAGAGAT


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FusionGenePPI for TTYH2_APOO


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
TTYH2NEDD4, IKBKG, GRB2, MANSC1APOOCDK2, TIMMDC1, C19orf70, APOOL


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 TTYH2_APOO


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 TTYH2_APOO


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