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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene Breakpoints

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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Geness

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Fusion Genomic Features

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Fusion Gene ORF Annotations

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Fusion Protein Retained/Non-Retained Functional Features

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Fusion Transcript Sequences

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Fusion Protein Sequences

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Personalized Fusion Protein Sequences

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Fusion Gene Expressed Samples

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Related Drugs

Fusion gene:ANKRD13C_LRRC40 (FusionGDB2 ID:HG81573TG55631)

Fusion Gene Summary for ANKRD13C_LRRC40

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKRD13C_LRRC40
Fusion gene ID: hg81573tg55631
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 date2024030520240305
UniProtAcc

Q8N6S4

Q9H9A6

Ensembl transtripts involved in fusion geneENST00000370944, ENST00000262346, 
ENST00000464236, 
Fusion gene scores* DoF score* DoF score (Degree of Frequency) = # partners X # break points X # disease types
9 X 10 X 10=900
* DoF score (Degree of Frequency) = # partners X # break points X # disease types
3 X 4 X 4=48
# samples 125
** MAII score** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(12/900*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(5/48*10)=0.0588936890535686
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(70790535)-LRRC40(70625121), # samples:1

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.
all structure
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.
all structure

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Fusion Gene Breakpoints for ANKRD13C_LRRC40


check button RNA-seq based exon junction arranged fusion gene breakpoints from 8 resources (TCGA, CCLE, cBioPortal, GenBank, ChimerDB, ChimerKB, ChildHoodFusions, and GTEx). For the expressed sample information, go to Fusion Gene Sample section.
HgeneHchrHbpTgeneTchrTbp
ANKRD13Cchr170790535LRRC40chr170625121


check button DNA-seq based exon junction arranged fusion gene breakpoints from dbVar. For the expressed sample information, go to Fusion Gene Sample section.
HgeneHchrHbpTgeneTchrTbpSV type


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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Genes for ANKRD13C_LRRC40


check button To generate these tumorigenic scenario annotations, we implemented a deduction-first, retrieval-later computational framework. The pipeline first applies rule-guided reasoning across ten core mechanistic categories (M1–M10) derived from fusion gene biology to infer candidate mechanisms, tumorigenic scenarios, targeting points, and targeting backgrounds. To ensure empirical accountability, a governed Python workflow retrieves literature candidates via NCBI E-utilities and Europe PMC using tiered searches. Using JSON Schema-constrained LLM evidence judges (GPT-5.6 Luna and Terra), retrieved articles are evaluated for specificity and confidence without de novo PMID generation. This produces two distinct versions: a strict version restricted to high- or medium-confidence fusion-specific evidence, and an extended version incorporating broader gene-, pathway-, and contextual evidence.
* We have 10 tumorigenic mechanism categories of fusion genes as shown below.
Constitutively Active Kinases, Catalytic Domain Dysregulation, & Transmembrane Ligand FusionsAberrant Chimeric Transcription Factor / Fusion Transcription Factor ActivityEpigenetic Reprogramming / Histone Modifier DysregulationChromatin Remodeling DysregulationCondensate-Driven Transcriptional Rewiring / LLPPromoter / Enhancer HijackingDominant-Negative AntagonismCell Cycle / Checkpoint Bypass / RNA Processing DysregulationSubcellular Mislocalization / Spatial DysregulationNuclear Body / Sub-organellar Architecture Disruption & Differentiation Blockade

* Strict version: Restricted to high- or medium-confidence fusion-specific evidence.
Fusion Gene NameMechanism CategoryMechanism PubMedTumorigenic ScenariosTumorigenic Scenario PubMedTargeting PointsTargeting PubMedMechanism BackgroundMechanism Background PubMed

* Extended version: Includes all strict-level fusion evidence plus broader gene-, pathway-, and low-confidence contextual evidence.
Fusion Gene NameMechanism CategoryMechanism PubMedTumorigenic ScenariosTumorigenic Scenario PubMedTargeting PointsTargeting PubMedMechanism BackgroundMechanism Background PubMed

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKRD13C

Q8N6S4

LRRC40

Q9H9A6


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:0010469

regulation of signaling receptor activity

20959461

HgeneANKRD13C

GO:2000209

regulation of anoikis

20959461


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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) of In-frame fusion genes. 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)
ANKRD13Cchr170790535-LRRC40chr170625121-1.91e-071.00e+00


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) of 5UTR-3CSD fusion genes (N-truncated cases).
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

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) of 5CDS-3UTR fusion genes (C-truncated cases).
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of six genomic regulatory feature tracks across a ±5 kb window centered on the fusion breakpoints. We input the breakpoint sequences into AlphaGenome and obtained predicted genome tracks at single-base-pair resolution for each modality by running a single forward pass over the reference sequence. Specifically, for each breakpoint, AlphaGenome processed and returned predicted track data across diverse modalities, which were then averaged across all tracks within each output type and visualized across the ±5 kb window. The left panel shows the 5'-gene breakpoint ±5 kb area, and the right panel shows the 3'-gene breakpoint area, with tracks grouped by category: chromatin accessibility (DNase-seq, ATAC-seq), active transcription (RNA-seq, CAGE), and chromatin binding (ChIP-Histone, ChIP-TF).
genomic feature

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Fusion Gene ORF Annotations 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

70790535

-LRRC40chr1

70625121

-

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the In-frame Fusion Genes.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)
Seq length
(peptide)
ENST00000370944ENST00000370952ANKRD13Cchr170790535LRRC40chr170625121891309

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the 5UTR-3CDS Fusion Genes for N-Truncated Protein Search.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)
Seq length
(peptide)

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the 5CDS-3UTR Fusion Genes for C-Truncated Protein Search.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)
Seq length
(peptide)

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.
HenstTenstHgeneHchrHbpTgeneTchrTbpNo-coding scoreCoding score
ENST00000370944ENST00000370952ANKRD13Cchr170790535LRRC40chr1706251219.19e-049.99e-01

check buttonDeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5UTR-3CDS Fusion Genes (Potential N-Truncated Proteins).
HenstTenstHgeneHchrHbpTgeneTchrTbpNo-coding scoreCoding score

check buttonDeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5CDS-3UTR Fusion Genes (Potential C-Truncated Proteins).
HenstTenstHgeneHchrHbpTgeneTchrTbpNo-coding scoreCoding score

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Fusion Protein Retained/Non-Retained Functional Features for ANKRD13C_LRRC40

check buttonProtein Level Annotation from FGviewer
* Retention 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.
fgviewer annotation
- In-frame and retained protein feature among the 13 regional features (visualization across fusion protein length).
ANKRD13C_LRRC40_chr1-70790535_chr1-70625121.png
ANKRD13C_LRRC40_chr1-70790535_chr1-70625121.png

- In-frame and retained protein feature among the 13 regional features (texts).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneANKRD13Cchr1:70790535chr1:70625121ENST00000370944Q8N6S43131_20192.33333333333334542.0Compositional biasBasic and acidic residues
HgeneANKRD13Cchr1:70790535chr1:70625121ENST00000370944Q8N6S43131_27192.33333333333334542.0RegionDisordered
HgeneANKRD13Cchr1:70790535chr1:70625121ENST00000370944Q8N6S4313111_142192.33333333333334542.0RepeatNote=ANK 1
HgeneANKRD13Cchr1:70790535chr1:70625121ENST00000370944Q8N6S4313143_172192.33333333333334542.0RepeatNote=ANK 2
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815400_421370.3333333333333603.0RepeatNote=LRR 13
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815426_447370.3333333333333603.0RepeatNote=LRR 14
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815450_472370.3333333333333603.0RepeatNote=LRR 15
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815473_494370.3333333333333603.0RepeatNote=LRR 16
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815496_517370.3333333333333603.0RepeatNote=LRR 17
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815519_540370.3333333333333603.0RepeatNote=LRR 18
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815543_564370.3333333333333603.0RepeatNote=LRR 19
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815566_586370.3333333333333603.0RepeatNote=LRR 20

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneANKRD13Cchr1:70790535chr1:70625121ENST00000370944Q8N6S4313176_205192.33333333333334542.0RepeatNote=ANK 3
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815106_127370.3333333333333603.0RepeatNote=LRR 2
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815129_150370.3333333333333603.0RepeatNote=LRR 3
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815152_173370.3333333333333603.0RepeatNote=LRR 4
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815175_196370.3333333333333603.0RepeatNote=LRR 5
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815198_219370.3333333333333603.0RepeatNote=LRR 6
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815221_242370.3333333333333603.0RepeatNote=LRR 7
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815244_265370.3333333333333603.0RepeatNote=LRR 8
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815266_286370.3333333333333603.0RepeatNote=LRR 9
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815290_311370.3333333333333603.0RepeatNote=LRR 10
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815313_335370.3333333333333603.0RepeatNote=LRR 11
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A6815336_356370.3333333333333603.0RepeatNote=LRR 12
TgeneLRRC40chr1:70790535chr1:70625121ENST00000370952Q9H9A681583_104370.3333333333333603.0RepeatNote=LRR 1


check button - Retained PPIs in in-frame fusion.
PartnerHgeneHbpTgeneTbpENSTUniProtStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerHgeneHbpTgeneTbpENSTUniProtStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Fusion Transcript Sequence for ANKRD13C_LRRC40

check button In-frame Fusion Transcript Sequences.
>ANKRD13C_LRRC40_ENST00000370944_ENST00000370952_70790535_70625121 length=2584nt
Breakpoint=891nt
GAGCAAGAGGAAGATGGCCGTGCCCTGTTTTTCGGTGTAAGGCAGCGACGGCGGCTGCGACGGCGAGACTGAGATCCTGGTGTCGTGGGCACCTGAGTTCTAGCTTCCCCCAGCGAGCGCGCGTCCCTTCGTGCCTAGGCGAGAGCCGGC
TCTTCCCCGGGAGATGCGTTTGTCCCAGGCTCGGGGGCTCAGTGGGAGTTCATGCTGCGCTGGAGGCTCTTGGCCACCGCTCTAATCGCCTTGTGCCGCCGCAGCGCCAGCTCCGTCGCCAGCGGTGAGCCTCCCGATTCCCCCCCTTGC
CCCTGGCGGCGGCGATGACCGGGGAGAAGATCCGCTCACTGCGGAGGGACCACAAGCCCAGCAAAGAAGAAGGGGACCTGCTGGAGCCCGGGGATGAGGAAGCGGCGGCTGCCCTCGGCGGTACCTTTACCAGAAGCAGGATTGGCAAGG
GCGGCAAAGCTTGTCATAAGATCTTCAGTAACCATCACCACCGGCTACAGCTGAAGGCAGCTCCGGCCTCCTCCAATCCCCCCGGCGCCCCGGCTCTGCCGCTGCACAATTCCTCCGTGACTGCCAACTCCCAGTCCCCGGCCCTTCTGG
CCGGCACCAACCCCGTTGCTGTCGTCGCGGATGGAGGCAGTTGCCCCGCACACTACCCGGTGCACGAGTGCGTCTTCAAGGGGGATGTGAGGAGACTCTCCTCTCTCATCCGCACGCACAATATCGGGCAGAAAGATAATCACGGAAATA
CTCCTTTACACCTTGCTGTGATGTTAGGAAATAAAGAATGTGCCCATTTACTTTTGGCTCACAATGCTCCAGTCAAGGTGAAAAATGCTCAGGGATGGAGCCCTCTGGCGGAAGCCATCAGCTATGGAGATAGGCAGATGAATGATGGAC
CTAGCCAAAGTGAGTCTGCTACTGAGACTGCCATGACACTACCAAGTGAATCCAGAGTCAATATACATGCCATCATTACATTAAAAATATTAGACTATAGTGATAAACAAGCAACTTTGATTCCTGATGAGGTGTTTGATGCAGTAAAAA
GCAACATCGTCACTTCTATTAACTTCAGTAAGAATCAACTATGTGAAATTCCAAAAAGGATGGTAGAACTGAAGGAAATGGTTTCTGATGTCGATCTCAGTTTTAATAAACTTTCCTTTATATCCTTGGAGTTATGTGTGCTTCAGAAAT
TGACTTTTTTAGATCTCAGGAACAATTTTTTAAATTCTTTGCCAGAAGAAATGGAATCACTGGTAAGACTGCAAACGATCAATCTTTCCTTTAATAGGTTTAAAATGCTACCTGAAGTTCTATATCGTATCTTCACACTTGAAACAATTC
TGATTAGTAATAATCAGGTTGGATCTGTGGACCCTCAGAAAATGAAGATGATGGAAAATCTGACCACGTTGGACCTTCAAAATAATGACCTCTTACAAATTCCACCAGAGCTCGGTAATTGTGTAAACTTAAGAACATTACTACTGGATG
GAAATCCATTCCGAGTTCCTCGAGCAGCCATATTAATGAAAGGAACAGCTGCTATACTTGAATATTTGAGAGACCGAATTCCTACTTAACATGGAGTTGCTTTATAACCCTTGTCATGTATTATTAACCCTGGTTAATTCTAAGGAGGAT
GTAACATTTGTTTTAGTATCATCTTAAAAGGTGATTATTGTAATTGATCTTGTAGTTTCCCAGTATCACCTACCTGTTGGTATAATTAGCCTGGGCCATATTCACTGCCAGTAAATATTTTTACATTTTTATTTAAGATTTTTGTAAGGT
GTTGTATACATTTGTAATGGTGATAACCACAATGTGTTCATACATTTGTTCTAAATGTTTTGCTTATGATTTATCCTGCTAACTTTCATTTTCTTATAGCAAGCAGTTTTTTCAAAAATGAATTTTTATTTAATGTGGTTCAGTATTATA
ATAACAAAGCATTTTTGTAGAACTGGTTTTTTTTCTCATTTATTTTTGTATTCCATACAATGTGACCAATTGACTTGAATATGACTAGCCAGTTTCTATGTTTTTGTTAGATATAAAATTAAATCGAATTTTGTTGAATACTGTTCTTTG
GCATTTAAAAAATAAGACCTTCTTATCTTGGGCCACATGTCAAAAGAAAAAGGAAACAAAAATATATTAAAAATAAGACTTTTCATTACCCATGATAGGACTTTTGTGATATGGCTAATCTCAGTACACATTTCAACTTAAAACCTTTTT
ATTTACAGCACCATAATTTTAAAATTTACTTGCAATCTTGGTAAGACTAAACTTGCAGTGTTTTTCTAAAAGGGAATTTGATAGGTAAACTTGATTTAATAAAAATTAAATATCATTTTTGTTTACACCAAAATTATCAGAAGTAGGTTG
ATTAGTCATTATAACACTTACCATATGATTCTATTAAGAAGTCAATTCAGTAGCATGTATATCAATTTATATAGATAGGTAGATAGCTTTTGGATGATTGAGGCATGCTTATATTATGAAAAAAATTGCTAATAAAGATAAATACTACAT
GTTCAGAATAAAAGTTACATTTTTCAAATATTGA


check button N-Truncated Transcript (5UTR-3CDS) Sequences

check button C-Truncated Transcript (5CDS-3UTR) Sequences

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Fusion Protein Sequence for ANKRD13C_LRRC40

check button In-frame Fusion Protein Sequences.
>ANKRD13C_LRRC40_ENST00000370944_ENST00000370952_70790535_70625121 length=309nt
MPLAAAMTGEKIRSLRRDHKPSKEEGDLLEPGDEEAAAALGGTFTRSRIGKGGKACHKIFSNHHHRLQLKAAPASSNPPGAPALPLHNSSVTANSQSPALLAGTNPVAVVADGGSCPAHYPVHECVFKGDVRRLSSLIRTHNIGQKDNHG
NTPLHLAVMLGNKVTALLRKLKQQSRESVEEKRPRLLKALKELGDFYLELHWDFQSWVPLLSRILPSDACKIYKQGINIRLDTTLIDFTDMKCQRGDLSFIFNGDAAPSESFVVLDNEQKVYQRIHHEIRYHTNNYASSSTSLPCQCSST
LMWSDHLER


check button N-Truncated Protein (5UTR-3CDS) Sequences

check button C-Truncated Protein (5CDS-3UTR) Sequences

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Personalized Fusion Protein Sequence for ANKRD13C_LRRC40


check button TCGA Kinase/DNA-binding Domain Mutated Fusion Protein Sequences
NumGene GroupDomain LociFusion Protein IDFusion Gene NamePartnerMutated Residue in WT ProteinSeq. LengthMutated Residue in Fusion Protein

check button CCLE Kinase/DNA-binding Domain Mutated Fusion Protein Sequences

NumGene GroupDomain LociFusion Protein IDFusion Gene NamePartnerMutated Residue in WT ProteinSeq. LengthMutated Residue in Fusion Protein

check button TCGA All Mutated Fusion Protein Sequences


Fusion Protein IDSample IDMutated PartnerAAchange in WTSeq. LengthAAchange in Fusion

check button CCLE All Mutated Fusion Protein Sequences


Fusion Protein IDSample IDMutated PartnerAAchange in WTSeq. LengthAAchange in Fusion

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Fusion Gene Exprssed Samples for ANKRD13C_LRRC40


check buttonRNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDBSTADTCGA-D7-8576-01AANKRD13C

chr1

70790535-LRRC40

chr1

70625121

-

check buttonDNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrandSV type


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Related Drugs for ANKRD13C_LRRC40


check button PubMed Abstract Search With ['A-B' AND 'drug'], ['A::B' AND 'drug']
* For more details on the Studied, Reported, Approved Drugs targeting this fusion gene, Go to FusionPub.
PMIDFusion Gene NameDrugStudy Title

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