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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:EIF3H-ANKH

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EIF3H-ANKH
FusionPDB ID: 25846
FusionGDB2.0 ID: 25846
HgeneTgene
Gene symbol

EIF3H

ANKH

Gene ID

8667

56172

Gene nameeukaryotic translation initiation factor 3 subunit HANKH inorganic pyrophosphate transport regulator
SynonymsEIF3S3|eIF3-gamma|eIF3-p40ANK|CCAL2|CMDJ|CPPDD|HANK|MANK|SLC62A1
Cytomap

8q23.3-q24.11

5p15.2

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 3 subunit HeIF-3-gammaeIF3 p40 subuniteukaryotic translation initiation factor 3 subunit 3eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD)eukaryotic translation initiation factor 3, subunit 3progressive ankylosis protein homologankylosis, progressive homolog
Modification date2020031320200313
UniProtAcc

O15372

Q8IWZ3

Ensembl transtripts involved in fusion geneENST idsENST00000276682, ENST00000521861, 
ENST00000503939, ENST00000284268, 
ENST00000535119, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 17 X 5=144513 X 11 X 7=1001
# samples 2314
** MAII scorelog2(23/1445*10)=-2.65136372644367
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/1001*10)=-2.83794324189103
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: EIF3H [Title/Abstract] AND ANKH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EIF3H(117767905)-ANKH(14716944), # samples:1
Anticipated loss of major functional domain due to fusion event.EIF3H-ANKH seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
EIF3H-ANKH seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneEIF3H

GO:0006413

translational initiation

17581632


check buttonFusion gene breakpoints across EIF3H (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ANKH (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-D7-5577-01AEIF3Hchr8

117767905

-ANKHchr5

14716944

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000521861EIF3Hchr8117767905-ENST00000284268ANKHchr514716944-701715612623203
ENST00000521861EIF3Hchr8117767905-ENST00000535119ANKHchr514716944-141115612623203
ENST00000276682EIF3Hchr8117767905-ENST00000284268ANKHchr514716944-78029417671408213
ENST00000276682EIF3Hchr8117767905-ENST00000535119ANKHchr514716944-21969417671408213

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000521861ENST00000284268EIF3Hchr8117767905-ANKHchr514716944-0.0021347990.99786526
ENST00000521861ENST00000535119EIF3Hchr8117767905-ANKHchr514716944-0.0017017360.9982982
ENST00000276682ENST00000284268EIF3Hchr8117767905-ANKHchr514716944-0.0027452020.9972548
ENST00000276682ENST00000535119EIF3Hchr8117767905-ANKHchr514716944-0.0030785880.9969214

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>25846_25846_1_EIF3H-ANKH_EIF3H_chr8_117767905_ENST00000276682_ANKH_chr5_14716944_ENST00000284268_length(amino acids)=213AA_BP=58
MYSRHAQRIPPGKKMASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLLCFVMFWTPNVSEKILIDIIGVDFAFAELCVV
PLRIFSFFPVPVTVRAHLTGWLMTLKKTFVLAPSSVLRIIVLIASLVVLPYLGVHGATLGVGSLLAGFVGESTMVAIAACYVYRKQKKKM

--------------------------------------------------------------

>25846_25846_2_EIF3H-ANKH_EIF3H_chr8_117767905_ENST00000276682_ANKH_chr5_14716944_ENST00000535119_length(amino acids)=213AA_BP=58
MYSRHAQRIPPGKKMASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLLCFVMFWTPNVSEKILIDIIGVDFAFAELCVV
PLRIFSFFPVPVTVRAHLTGWLMTLKKTFVLAPSSVLRIIVLIASLVVLPYLGVHGATLGVGSLLAGFVGESTMVAIAACYVYRKQKKKM

--------------------------------------------------------------

>25846_25846_3_EIF3H-ANKH_EIF3H_chr8_117767905_ENST00000521861_ANKH_chr5_14716944_ENST00000284268_length(amino acids)=203AA_BP=48
MLGKMASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLLCFVMFWTPNVSEKILIDIIGVDFAFAELCVVPLRIFSFFPV
PVTVRAHLTGWLMTLKKTFVLAPSSVLRIIVLIASLVVLPYLGVHGATLGVGSLLAGFVGESTMVAIAACYVYRKQKKKMENESATEGED

--------------------------------------------------------------

>25846_25846_4_EIF3H-ANKH_EIF3H_chr8_117767905_ENST00000521861_ANKH_chr5_14716944_ENST00000535119_length(amino acids)=203AA_BP=48
MLGKMASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLLCFVMFWTPNVSEKILIDIIGVDFAFAELCVVPLRIFSFFPV
PVTVRAHLTGWLMTLKKTFVLAPSSVLRIIVLIASLVVLPYLGVHGATLGVGSLLAGFVGESTMVAIAACYVYRKQKKKMENESATEGED

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:117767905/chr5:14716944)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EIF3H

O15372

ANKH

Q8IWZ3

FUNCTION: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). {ECO:0000255|HAMAP-Rule:MF_03007, ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773, ECO:0000269|PubMed:27462815}.FUNCTION: May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases. {ECO:0000269|PubMed:16098192}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712348_350337.0493.0Topological domainExtracellular
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712372_403337.0493.0Topological domainCytoplasmic
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712427_429337.0493.0Topological domainExtracellular
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712453_492337.0493.0Topological domainCytoplasmic
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712351_371337.0493.0TransmembraneHelical
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712404_426337.0493.0TransmembraneHelical
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712430_452337.0493.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEIF3Hchr8:117767905chr5:14716944ENST00000521861-1839_17344.0353.0DomainMPN
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712107_131337.0493.0Topological domainExtracellular
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712153_158337.0493.0Topological domainCytoplasmic
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712180_189337.0493.0Topological domainExtracellular
TgeneANKHchr8:117767905chr5:14716944ENST000002842687121_85337.0493.0Topological domainCytoplasmic
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712211_326337.0493.0Topological domainCytoplasmic
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712132_152337.0493.0TransmembraneHelical
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712159_179337.0493.0TransmembraneHelical
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712190_210337.0493.0TransmembraneHelical
TgeneANKHchr8:117767905chr5:14716944ENST00000284268712327_347337.0493.0TransmembraneHelical
TgeneANKHchr8:117767905chr5:14716944ENST0000028426871286_106337.0493.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
EIF3H
ANKH


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to EIF3H-ANKH


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to EIF3H-ANKH


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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