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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for LRFN5

check button Gene summary
Gene informationGene symbol

LRFN5

Gene ID

145581

Gene nameleucine rich repeat and fibronectin type III domain containing 5
SynonymsC14orf146|FIGLER8|SALM5
Cytomap

14q21.1

Type of geneprotein-coding
Descriptionleucine-rich repeat and fibronectin type-III domain-containing protein 5fibronectin type III, immunoglobulin and leucine rich repeat domains 8
Modification date20180522
UniProtAcc

Q96NI6

ContextPubMed: LRFN5 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for LRFN5 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* 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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Gene isoform structures and expression levels for LRFN5

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for LRFN5

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1062661442077617:42077765:42200539:42200556:42202673:4220283542200539:42200556ENSG00000165379.9ENST00000555279.1
exon_skip_1062691442077617:42077765:42236056:42236232:42355808:4235721342236056:42236232ENSG00000165379.9ENST00000554120.1
exon_skip_1062721442236056:42236232:42355808:42357213:42368119:4236816342355808:42357213ENSG00000165379.9ENST00000554171.1
exon_skip_1062751442355808:42357213:42360452:42361165:42368119:4236816342360452:42361165ENSG00000165379.9ENST00000298119.4
exon_skip_1062761442355808:42357213:42368119:42368163:42373360:4237375242368119:42368163ENSG00000165379.9ENST00000554171.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for LRFN5

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1062661442077617:42077765:42200539:42200556:42202673:4220283542200539:42200556ENSG00000165379.9ENST00000555279.1
exon_skip_1062691442077617:42077765:42236056:42236232:42355808:4235721342236056:42236232ENSG00000165379.9ENST00000554120.1
exon_skip_1062721442236056:42236232:42355808:42357213:42368119:4236816342355808:42357213ENSG00000165379.9ENST00000554171.1
exon_skip_1062751442355808:42357213:42360452:42361165:42368119:4236816342360452:42361165ENSG00000165379.9ENST00000298119.4
exon_skip_1062761442355808:42357213:42368119:42368163:42373360:4237375242368119:42368163ENSG00000165379.9ENST00000554171.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for LRFN5

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002981194236045242361165Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002981194236045242361165Frame-shift

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Infer the effects of exon skipping event on protein functional features for LRFN5

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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SNVs in the skipped exons for LRFN5

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_106272
42355809423572134235584242355842Frame_Shift_DelT-p.L5fs
LIHCTCGA-DD-A39Y-01exon_skip_106272
42355809423572134235594942355949Frame_Shift_DelG-p.G41fs
UCECTCGA-AP-A05N-01exon_skip_106272
42355809423572134235652142356521Frame_Shift_DelT-p.S231fs
LUADTCGA-44-5644-01exon_skip_106272
42355809423572134235666642356678Frame_Shift_DelGAAGAGTTTTTGT-p.EEFLC280fs
LIHCTCGA-DD-A39Y-01exon_skip_106272
42355809423572134235667242356672Frame_Shift_DelT-p.F282fs
LIHCTCGA-DD-A3A0-01exon_skip_106272
42355809423572134235713642357136Frame_Shift_DelT-p.N436fs
LIHCTCGA-DD-A3A0-01exon_skip_106275
42360453423611654236065042360650Frame_Shift_DelC-p.T528fs
LIHCTCGA-DD-A1EG-01exon_skip_106275
42360453423611654236095842360958Frame_Shift_DelC-p.P631fs
READTCGA-DT-5265-01exon_skip_106275
42360453423611654236106442361064Frame_Shift_DelA-p.Q666fs
COADTCGA-A6-6653-01exon_skip_106272
42355809423572134235718942357190Frame_Shift_Ins-Tp.T454fs
LUADTCGA-67-3771-01exon_skip_106272
42355809423572134235584942355849Nonsense_MutationTAp.Y7*
SKCMTCGA-YD-A9TA-06exon_skip_106272
42355809423572134235590642355906Nonsense_MutationTAp.C26*
LUADTCGA-93-8067-01exon_skip_106272
42355809423572134235645042356450Nonsense_MutationCTp.Q208*
UCECTCGA-D1-A16X-01exon_skip_106272
42355809423572134235666642356666Nonsense_MutationGTp.E280*
HNSCTCGA-CV-5432-01exon_skip_106272
42355809423572134235680442356804Nonsense_MutationATp.K326*
LUADTCGA-44-2657-01exon_skip_106272
42355809423572134235687642356876Nonsense_MutationATp.K350*
ESCATCGA-Z6-A8JE-01exon_skip_106272
42355809423572134235702142357021Nonsense_MutationCGp.S398*
ESCATCGA-Z6-A8JE-01exon_skip_106272
42355809423572134235702142357021Nonsense_MutationCGp.S398X
LUADTCGA-86-8358-01exon_skip_106272
42355809423572134235702142357021Nonsense_MutationCAp.S398*
LUADTCGA-62-A470-01exon_skip_106272
42355809423572134235703642357036Nonsense_MutationCAp.S403*
LUADTCGA-55-8302-01exon_skip_106275
42360453423611654236058642360586Nonsense_MutationCTp.Q507*
LUSCTCGA-60-2723-01exon_skip_106275
42360453423611654236061842360618Nonsense_MutationCAp.C517*
LUSCTCGA-22-4599-01exon_skip_106275
42360453423611654236090842360908Nonsense_MutationCAp.S614*
UCSTCGA-NF-A4X2-01exon_skip_106275
42360453423611654236091042360910Nonsense_MutationGTp.E615*
UCSTCGA-NF-A4X2-01exon_skip_106275
42360453423611654236091042360910Nonsense_MutationGTp.E615X
HNSCTCGA-CV-A45Z-01exon_skip_106275
42360453423611654236092042360920Nonsense_MutationCAp.S618*
CESCTCGA-DR-A0ZM-01exon_skip_106275
42360453423611654236108542361085Nonsense_MutationCGp.S673*
KIRCTCGA-B0-4698-01exon_skip_106276
42368120423681634236816442368164Splice_SiteGT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
DU145_PROSTATE42355809423572134235682342356824Frame_Shift_Ins-Ap.R333fs
HARA_LUNG42355809423572134235585342355853Missense_MutationTAp.F9I
MB1_THYROID42355809423572134235585942355859Missense_MutationAGp.I11V
NCIH2110_LUNG42355809423572134235589642355896Missense_MutationGTp.R23L
RERFLCFM_LUNG42355809423572134235589942355899Missense_MutationGTp.C24F
CHLA57_BONE42355809423572134235597642355976Missense_MutationGTp.D50Y
HCT15_LARGE_INTESTINE42355809423572134235598342355983Missense_MutationGTp.R52I
NCIH187_LUNG42355809423572134235606142356061Missense_MutationTAp.V78E
SNU81_LARGE_INTESTINE42355809423572134235609042356090Missense_MutationACp.S88R
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42355809423572134235610342356103Missense_MutationCAp.P92H
DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42355809423572134235611442356114Missense_MutationGAp.A96T
GP2D_LARGE_INTESTINE42355809423572134235615042356150Missense_MutationAGp.S108G
GP5D_LARGE_INTESTINE42355809423572134235615042356150Missense_MutationAGp.S108G
NCIH2286_LUNG42355809423572134235617242356172Missense_MutationCAp.T115K
HS746T_STOMACH42355809423572134235617742356177Missense_MutationGTp.D117Y
DMS454_LUNG42355809423572134235618942356189Missense_MutationGTp.G121C
TGW_AUTONOMIC_GANGLIA42355809423572134235620142356201Missense_MutationCAp.L125I
U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42355809423572134235620742356207Missense_MutationCTp.H127Y
TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42355809423572134235620742356207Missense_MutationCTp.H127Y
SCMCRM2_SOFT_TISSUE42355809423572134235621242356212Missense_MutationGTp.L128F
HPAFII_PANCREAS42355809423572134235627042356270Missense_MutationGAp.A148T
HS746T_STOMACH42355809423572134235628242356282Missense_MutationCAp.L152M
BFTC905_URINARY_TRACT42355809423572134235629742356298Missense_MutationAATTp.N157F
EFO21_OVARY42355809423572134235631042356310Missense_MutationCGp.T161S
NCIH1793_LUNG42355809423572134235631942356319Missense_MutationGCp.W164S
CORL47_LUNG42355809423572134235632242356322Missense_MutationATp.D165V
SNU175_LARGE_INTESTINE42355809423572134235632542356325Missense_MutationCTp.A166V
NCIH322_LUNG42355809423572134235641042356410Missense_MutationGTp.L194F
LU165_LUNG42355809423572134235641642356416Missense_MutationGTp.K196N
SW1271_LUNG42355809423572134235645542356455Missense_MutationGCp.K209N
DMS79_LUNG42355809423572134235645642356456Missense_MutationCAp.L210I
LC1F_LUNG42355809423572134235647842356478Missense_MutationAGp.Q217R
LC1SQSF_LUNG42355809423572134235647842356478Missense_MutationAGp.Q217R
LC1SQ_LUNG42355809423572134235647842356478Missense_MutationAGp.Q217R
SW403_LARGE_INTESTINE42355809423572134235648142356481Missense_MutationGAp.R218Q
HCC461_LUNG42355809423572134235652842356528Missense_MutationGTp.A234S
AGS_STOMACH42355809423572134235653442356534Missense_MutationAGp.S236G
MEWO_SKIN42355809423572134235654342356543Missense_MutationGAp.G239R
SNU1040_LARGE_INTESTINE42355809423572134235657642356576Missense_MutationTGp.W250G
SUPB15_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42355809423572134235660042356600Missense_MutationGCp.D258H
NCIH1568_LUNG42355809423572134235664342356643Missense_MutationGAp.R272H
MCC13_SKIN42355809423572134235666342356663Missense_MutationGAp.E279K
MERO84_LUNG42355809423572134235669342356693Missense_MutationAGp.I289V
SNU81_LARGE_INTESTINE42355809423572134235669942356699Missense_MutationCTp.R291C
GP2D_LARGE_INTESTINE42355809423572134235670242356702Missense_MutationCTp.H292Y
GP5D_LARGE_INTESTINE42355809423572134235670242356702Missense_MutationCTp.H292Y
WM115_SKIN42355809423572134235670542356705Missense_MutationACp.T293P
SKMES1_LUNG42355809423572134235673242356732Missense_MutationCAp.Q302K
HCC1569_BREAST42355809423572134235673542356735Missense_MutationAGp.R303G
MM386_SKIN42355809423572134235674842356748Missense_MutationGAp.R307K
SNU1040_LARGE_INTESTINE42355809423572134235675242356752Missense_MutationCGp.C308W
NCIH2286_LUNG42355809423572134235678542356785Missense_MutationCAp.H319Q
SNU81_LARGE_INTESTINE42355809423572134235681042356810Missense_MutationATp.I328F
LU165_LUNG42355809423572134235685242356852Missense_MutationCGp.L342V
TE4_OESOPHAGUS42355809423572134235688242356882Missense_MutationATp.T352S
HSC2_UPPER_AERODIGESTIVE_TRACT42355809423572134235691942356919Missense_MutationGTp.G364V
HCC1833_LUNG42355809423572134235692742356927Missense_MutationAGp.T367A
EVSAT_BREAST42355809423572134235696642356966Missense_MutationTAp.L380I
BFTC905_URINARY_TRACT42355809423572134235698742356987Missense_MutationATp.I387F
NCIH2110_LUNG42355809423572134235700342357003Missense_MutationCAp.P392H
NCIH1435_LUNG42355809423572134235703842357038Missense_MutationGTp.G404C
NCIH1703_LUNG42355809423572134235705642357056Missense_MutationATp.S410C
HT115_LARGE_INTESTINE42355809423572134235705742357057Missense_MutationGTp.S410I
HEC251_ENDOMETRIUM42355809423572134235714042357140Missense_MutationCAp.Q438K
MM386_SKIN42355809423572134235715542357155Missense_MutationGAp.G443R
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42355809423572134235715642357156Missense_MutationGTp.G443V
SNU1040_LARGE_INTESTINE42355809423572134235716142357161Missense_MutationCTp.R445C
SNU398_LIVER42355809423572134235717042357170Missense_MutationCGp.Q448E
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42355809423572134235718042357180Missense_MutationAGp.Y451C
NB17_AUTONOMIC_GANGLIA42355809423572134235719642357196Missense_MutationTAp.D456E
JHUEM7_ENDOMETRIUM42360453423611654236048142360481Missense_MutationCAp.L472M
JHUEM7_ENDOMETRIUM42360453423611654236048542360485Missense_MutationTCp.V473A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42360453423611654236049842360499Missense_MutationTGATp.A478S
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42360453423611654236061342360613Missense_MutationCTp.R516C
SBC5_LUNG42360453423611654236062342360623Missense_MutationTAp.F519Y
SBC5_LUNG42360453423611654236062442360624Missense_MutationCAp.F519L
SW684_SOFT_TISSUE42360453423611654236063242360632Missense_MutationCTp.S522F
HEC108_ENDOMETRIUM42360453423611654236065342360653Missense_MutationTCp.M529T
SAOS2_BONE42360453423611654236069242360692Missense_MutationTCp.L542P
RCCAB_KIDNEY42360453423611654236069742360697Missense_MutationTCp.F544L
CW2_LARGE_INTESTINE42360453423611654236071642360716Missense_MutationTAp.I550N
NCIH513_PLEURA42360453423611654236078942360789Missense_MutationCAp.N574K
EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42360453423611654236082342360823Missense_MutationCTp.P586S
SW48_LARGE_INTESTINE42360453423611654236086642360866Missense_MutationCTp.A600V
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42360453423611654236092042360920Missense_MutationCTp.S618L
SNU81_LARGE_INTESTINE42360453423611654236092042360920Missense_MutationCTp.S618L
KYSE140_OESOPHAGUS42360453423611654236100142361001Missense_MutationGCp.R645T
VMCUB1_URINARY_TRACT42360453423611654236103142361031Missense_MutationCTp.P655L
NB17_AUTONOMIC_GANGLIA42360453423611654236104242361042Missense_MutationGAp.A659T
NCIH1793_LUNG42360453423611654236108442361084Missense_MutationTAp.S673T
NCIH1648_LUNG42360453423611654236112642361126Missense_MutationATp.T687S
SNU1040_LARGE_INTESTINE42360453423611654236112642361126Missense_MutationAGp.T687A
SW962_VULVA42360453423611654236113242361132Missense_MutationGAp.G689R
NCIH510_LUNG42360453423611654236113542361135Missense_MutationCAp.P690T
NCIH2073_LUNG42368120423681634236812742368127Missense_MutationGTp.L702F
NCIH1993_LUNG42368120423681634236812742368127Missense_MutationGTp.L702F
NCIH2170_LUNG42355809423572134235650242356502Nonsense_MutationCAp.S225*
SNU81_LARGE_INTESTINE42355809423572134235659742356597Nonsense_MutationGTp.E257*
RL952_ENDOMETRIUM42355809423572134235661742356617Nonsense_MutationTAp.C263*
SNU81_LARGE_INTESTINE42355809423572134235665542356655Nonsense_MutationCAp.S276*
HCT15_LARGE_INTESTINE42355809423572134235676242356762Nonsense_MutationGTp.G312*
SBC5_LUNG42360453423611654236062342360624Nonsense_MutationTCAAp.F519*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRFN5

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRFN5


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRFN5


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RelatedDrugs for LRFN5

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for LRFN5

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource