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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ANKRD13C-LRRC40 (FusionGDB2 ID:4702)

Fusion Gene Summary for ANKRD13C-LRRC40

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKRD13C-LRRC40
Fusion gene ID: 4702
HgeneTgene
Gene symbol

ANKRD13C

LRRC40

Gene ID

81573

55631

Gene nameankyrin repeat domain 13Cleucine rich repeat containing 40
SynonymsdJ677H15.3dJ677H15.1
Cytomap

1p31.1

1p31.1

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat domain-containing protein 13Cleucine-rich repeat-containing protein 40testicular tissue protein Li 109
Modification date2020031320200313
UniProtAcc.

Q9H9A6

Ensembl transtripts involved in fusion geneENST00000370944, ENST00000262346, 
ENST00000464236, 
ENST00000370952, 
Fusion gene scores* DoF score6 X 4 X 6=1443 X 3 X 3=27
# samples 63
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ANKRD13C [Title/Abstract] AND LRRC40 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKRD13C(70790536)-LRRC40(70625121), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneANKRD13C

GO:0010869

regulation of receptor biosynthetic process

20959461

HgeneANKRD13C

GO:2000209

regulation of anoikis

20959461


check buttonFusion gene breakpoints across ANKRD13C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across LRRC40 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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-D7-8576-01AANKRD13Cchr1

70790536

-LRRC40chr1

70625121

-


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Fusion Gene ORF analysis for ANKRD13C-LRRC40

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-frameENST00000370944ENST00000370952ANKRD13Cchr1

70790536

-LRRC40chr1

70625121

-
intron-3CDSENST00000262346ENST00000370952ANKRD13Cchr1

70790536

-LRRC40chr1

70625121

-
intron-3CDSENST00000464236ENST00000370952ANKRD13Cchr1

70790536

-LRRC40chr1

70625121

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000370944ANKRD13Cchr170790536-ENST00000370952LRRC40chr170625121-25848912961588430

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
ENST00000370944ENST00000370952ANKRD13Cchr170790536-LRRC40chr170625121-0.0003337360.9996662

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Fusion Genomic Features for ANKRD13C-LRRC40


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for ANKRD13C-LRRC40


check button Go to

FGviewer for the breakpoints of chr1:70790536-chr1:70625121

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.LRRC40

Q9H9A6

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneANKRD13Cchr1:70790536chr1:70625121ENST00000370944-31330_33192.33333333333334542.0Compositional biasNote=Poly-Ala
HgeneANKRD13Cchr1:70790536chr1:70625121ENST00000370944-313111_142192.33333333333334542.0RepeatNote=ANK 1
HgeneANKRD13Cchr1:70790536chr1:70625121ENST00000370944-313143_172192.33333333333334542.0RepeatNote=ANK 2
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815400_421370.3333333333333603.0RepeatNote=LRR 13
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815426_447370.3333333333333603.0RepeatNote=LRR 14
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815450_472370.3333333333333603.0RepeatNote=LRR 15
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815473_494370.3333333333333603.0RepeatNote=LRR 16
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815496_517370.3333333333333603.0RepeatNote=LRR 17
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815519_540370.3333333333333603.0RepeatNote=LRR 18
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815543_564370.3333333333333603.0RepeatNote=LRR 19
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815566_586370.3333333333333603.0RepeatNote=LRR 20

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneANKRD13Cchr1:70790536chr1:70625121ENST00000262346-11230_330507.0Compositional biasNote=Poly-Ala
HgeneANKRD13Cchr1:70790536chr1:70625121ENST00000262346-112111_1420507.0RepeatNote=ANK 1
HgeneANKRD13Cchr1:70790536chr1:70625121ENST00000262346-112143_1720507.0RepeatNote=ANK 2
HgeneANKRD13Cchr1:70790536chr1:70625121ENST00000262346-112176_2050507.0RepeatNote=ANK 3
HgeneANKRD13Cchr1:70790536chr1:70625121ENST00000370944-313176_205192.33333333333334542.0RepeatNote=ANK 3
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815106_127370.3333333333333603.0RepeatNote=LRR 2
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815129_150370.3333333333333603.0RepeatNote=LRR 3
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815152_173370.3333333333333603.0RepeatNote=LRR 4
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815175_196370.3333333333333603.0RepeatNote=LRR 5
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815198_219370.3333333333333603.0RepeatNote=LRR 6
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815221_242370.3333333333333603.0RepeatNote=LRR 7
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815244_265370.3333333333333603.0RepeatNote=LRR 8
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815266_286370.3333333333333603.0RepeatNote=LRR 9
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815290_311370.3333333333333603.0RepeatNote=LRR 10
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815313_335370.3333333333333603.0RepeatNote=LRR 11
TgeneLRRC40chr1:70790536chr1:70625121ENST00000370952815336_356370.3333333333333603.0RepeatNote=LRR 12
TgeneLRRC40chr1:70790536chr1:70625121ENST0000037095281583_104370.3333333333333603.0RepeatNote=LRR 1


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Fusion Gene Sequence for ANKRD13C-LRRC40


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000370944_ENST00000370952_TCGA-D7-8576-01A_ANKRD13C_chr1_70790536_-_LRRC40_chr1_70625121_length(transcript)=2584nt_BP=891nt
GAGCAAGAGGAAGATGGCCGTGCCCTGTTTTTCGGTGTAAGGCAGCGACGGCGGCTGCGACGGCGAGACTGAGATCCTGGTGTCGTGGGC
ACCTGAGTTCTAGCTTCCCCCAGCGAGCGCGCGTCCCTTCGTGCCTAGGCGAGAGCCGGCTCTTCCCCGGGAGATGCGTTTGTCCCAGGC
TCGGGGGCTCAGTGGGAGTTCATGCTGCGCTGGAGGCTCTTGGCCACCGCTCTAATCGCCTTGTGCCGCCGCAGCGCCAGCTCCGTCGCC
AGCGGTGAGCCTCCCGATTCCCCCCCTTGCCCCTGGCGGCGGCGATGACCGGGGAGAAGATCCGCTCACTGCGGAGGGACCACAAGCCCA
GCAAAGAAGAAGGGGACCTGCTGGAGCCCGGGGATGAGGAAGCGGCGGCTGCCCTCGGCGGTACCTTTACCAGAAGCAGGATTGGCAAGG
GCGGCAAAGCTTGTCATAAGATCTTCAGTAACCATCACCACCGGCTACAGCTGAAGGCAGCTCCGGCCTCCTCCAATCCCCCCGGCGCCC
CGGCTCTGCCGCTGCACAATTCCTCCGTGACTGCCAACTCCCAGTCCCCGGCCCTTCTGGCCGGCACCAACCCCGTTGCTGTCGTCGCGG
ATGGAGGCAGTTGCCCCGCACACTACCCGGTGCACGAGTGCGTCTTCAAGGGGGATGTGAGGAGACTCTCCTCTCTCATCCGCACGCACA
ATATCGGGCAGAAAGATAATCACGGAAATACTCCTTTACACCTTGCTGTGATGTTAGGAAATAAAGAATGTGCCCATTTACTTTTGGCTC
ACAATGCTCCAGTCAAGGTGAAAAATGCTCAGGGATGGAGCCCTCTGGCGGAAGCCATCAGCTATGGAGATAGGCAGATGAATGATGGAC
CTAGCCAAAGTGAGTCTGCTACTGAGACTGCCATGACACTACCAAGTGAATCCAGAGTCAATATACATGCCATCATTACATTAAAAATAT
TAGACTATAGTGATAAACAAGCAACTTTGATTCCTGATGAGGTGTTTGATGCAGTAAAAAGCAACATCGTCACTTCTATTAACTTCAGTA
AGAATCAACTATGTGAAATTCCAAAAAGGATGGTAGAACTGAAGGAAATGGTTTCTGATGTCGATCTCAGTTTTAATAAACTTTCCTTTA
TATCCTTGGAGTTATGTGTGCTTCAGAAATTGACTTTTTTAGATCTCAGGAACAATTTTTTAAATTCTTTGCCAGAAGAAATGGAATCAC
TGGTAAGACTGCAAACGATCAATCTTTCCTTTAATAGGTTTAAAATGCTACCTGAAGTTCTATATCGTATCTTCACACTTGAAACAATTC
TGATTAGTAATAATCAGGTTGGATCTGTGGACCCTCAGAAAATGAAGATGATGGAAAATCTGACCACGTTGGACCTTCAAAATAATGACC
TCTTACAAATTCCACCAGAGCTCGGTAATTGTGTAAACTTAAGAACATTACTACTGGATGGAAATCCATTCCGAGTTCCTCGAGCAGCCA
TATTAATGAAAGGAACAGCTGCTATACTTGAATATTTGAGAGACCGAATTCCTACTTAACATGGAGTTGCTTTATAACCCTTGTCATGTA
TTATTAACCCTGGTTAATTCTAAGGAGGATGTAACATTTGTTTTAGTATCATCTTAAAAGGTGATTATTGTAATTGATCTTGTAGTTTCC
CAGTATCACCTACCTGTTGGTATAATTAGCCTGGGCCATATTCACTGCCAGTAAATATTTTTACATTTTTATTTAAGATTTTTGTAAGGT
GTTGTATACATTTGTAATGGTGATAACCACAATGTGTTCATACATTTGTTCTAAATGTTTTGCTTATGATTTATCCTGCTAACTTTCATT
TTCTTATAGCAAGCAGTTTTTTCAAAAATGAATTTTTATTTAATGTGGTTCAGTATTATAATAACAAAGCATTTTTGTAGAACTGGTTTT
TTTTCTCATTTATTTTTGTATTCCATACAATGTGACCAATTGACTTGAATATGACTAGCCAGTTTCTATGTTTTTGTTAGATATAAAATT
AAATCGAATTTTGTTGAATACTGTTCTTTGGCATTTAAAAAATAAGACCTTCTTATCTTGGGCCACATGTCAAAAGAAAAAGGAAACAAA
AATATATTAAAAATAAGACTTTTCATTACCCATGATAGGACTTTTGTGATATGGCTAATCTCAGTACACATTTCAACTTAAAACCTTTTT
ATTTACAGCACCATAATTTTAAAATTTACTTGCAATCTTGGTAAGACTAAACTTGCAGTGTTTTTCTAAAAGGGAATTTGATAGGTAAAC
TTGATTTAATAAAAATTAAATATCATTTTTGTTTACACCAAAATTATCAGAAGTAGGTTGATTAGTCATTATAACACTTACCATATGATT
CTATTAAGAAGTCAATTCAGTAGCATGTATATCAATTTATATAGATAGGTAGATAGCTTTTGGATGATTGAGGCATGCTTATATTATGAA

>In-frame_ENST00000370944_ENST00000370952_TCGA-D7-8576-01A_ANKRD13C_chr1_70790536_-_LRRC40_chr1_70625121_length(amino acids)=430AA_start in transcript=296_stop in transcript=1588
MPLAAAMTGEKIRSLRRDHKPSKEEGDLLEPGDEEAAAALGGTFTRSRIGKGGKACHKIFSNHHHRLQLKAAPASSNPPGAPALPLHNSS
VTANSQSPALLAGTNPVAVVADGGSCPAHYPVHECVFKGDVRRLSSLIRTHNIGQKDNHGNTPLHLAVMLGNKECAHLLLAHNAPVKVKN
AQGWSPLAEAISYGDRQMNDGPSQSESATETAMTLPSESRVNIHAIITLKILDYSDKQATLIPDEVFDAVKSNIVTSINFSKNQLCEIPK
RMVELKEMVSDVDLSFNKLSFISLELCVLQKLTFLDLRNNFLNSLPEEMESLVRLQTINLSFNRFKMLPEVLYRIFTLETILISNNQVGS

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Fusion Gene PPI Analysis for ANKRD13C-LRRC40


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


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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Related Drugs for ANKRD13C-LRRC40


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ANKRD13C-LRRC40


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