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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: 2499

FusionGeneSummary for ARHGEF10L_PYCR1

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF10L_PYCR1
Fusion gene ID: 2499
HgeneTgene
Gene symbol

ARHGEF10L

PYCR1

Gene ID

55160

5831

Gene nameRho guanine nucleotide exchange factor 10 likepyrroline-5-carboxylate reductase 1
SynonymsGrinchGEFARCL2B|ARCL3B|P5C|P5CR|PIG45|PP222|PRO3|PYCR
Cytomap

1p36.13

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 10-like proteinRho guanine nucleotide exchange factor (GEF) 10-likepyrroline-5-carboxylate reductase 1, mitochondrialP5C reductase 1proliferation-inducing protein 45
Modification date2018052320180520
UniProtAcc

Q9HCE6

P32322

Ensembl transtripts involved in fusion geneENST00000434513, ENST00000361221, 
ENST00000452522, ENST00000375415, 
ENST00000375420, ENST00000469726, 
ENST00000375408, ENST00000167825, 
ENST00000329875, ENST00000337943, 
ENST00000403172, ENST00000577756, 
ENST00000402252, 
Fusion gene scores* DoF score7 X 8 X 9=5042 X 2 X 2=8
# samples 112
** MAII scorelog2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ARHGEF10L [Title/Abstract] AND PYCR1 [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
TgenePYCR1

GO:0006561

proline biosynthetic process

16730026


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
TCGALDLIHCTCGA-DD-AAE2-01AARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
* 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-5UTRENST00000434513ENST00000329875ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000434513ENST00000337943ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000434513ENST00000403172ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000434513ENST00000577756ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000434513ENST00000402252ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000361221ENST00000329875ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000361221ENST00000337943ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000361221ENST00000403172ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000361221ENST00000577756ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000361221ENST00000402252ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000452522ENST00000329875ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000452522ENST00000337943ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000452522ENST00000403172ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000452522ENST00000577756ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
5UTR-5UTRENST00000452522ENST00000402252ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375415ENST00000329875ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375415ENST00000337943ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375415ENST00000403172ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375415ENST00000577756ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375415ENST00000402252ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375420ENST00000329875ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375420ENST00000337943ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375420ENST00000403172ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375420ENST00000577756ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375420ENST00000402252ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000469726ENST00000329875ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000469726ENST00000337943ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000469726ENST00000403172ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000469726ENST00000577756ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000469726ENST00000402252ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375408ENST00000329875ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375408ENST00000337943ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375408ENST00000403172ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375408ENST00000577756ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000375408ENST00000402252ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000167825ENST00000329875ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000167825ENST00000337943ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000167825ENST00000403172ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000167825ENST00000577756ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-
intron-5UTRENST00000167825ENST00000402252ARHGEF10Lchr1

17866445

+PYCR1chr17

79894737

-

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FusionProtFeatures for ARHGEF10L_PYCR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGEF10L

Q9HCE6

PYCR1

P32322

Housekeeping enzyme that catalyzes the last step inproline biosynthesis. Can utilize both NAD and NADP, but hashigher affinity for NAD. Involved in the cellular response tooxidative stress. {ECO:0000269|PubMed:16730026,ECO:0000269|PubMed:19648921}.

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


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FusionGeneSequence for ARHGEF10L_PYCR1


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).

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FusionGenePPI for ARHGEF10L_PYCR1


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
ARHGEF10LPYCR1NUDT21, CDK2AP2, CUL3, MDC1, DAB2, ITGA4, BAG3, BNIPL, HNRNPD, FUS, SUZ12, RNF2, BMI1, NUDT5, PYCR2, KLHDC10, PYCRL, CCDC47, NTRK1, CEP162, LCA5, HNRNPH2, DAP3, CDC16, ARMC6, DUSP14, PDHA1, SOAT1, G3BP1


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 ARHGEF10L_PYCR1


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 ARHGEF10L_PYCR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePYCR1C2751987Cutis Laxa, Autosomal Recessive, Type IIB2CTD_human;ORPHANET;UNIPROT
TgenePYCR1C3280799CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB2ORPHANET;UNIPROT
TgenePYCR1C0010495Cutis Laxa1CTD_human;HPO
TgenePYCR1C0023893Liver Cirrhosis, Experimental1CTD_human
TgenePYCR1C0033300Progeria1CTD_human