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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 FARP2

check button Gene summary
Gene informationGene symbol

FARP2

Gene ID

9855

Gene nameFERM, ARH/RhoGEF and pleckstrin domain protein 2
SynonymsFIR|FRG|PLEKHC3
Cytomap

2q37.3

Type of geneprotein-coding
DescriptionFERM, ARHGEF and pleckstrin domain-containing protein 2FERM domain including RhoGEFFERM, RhoGEF and pleckstrin domain protein 2FERM, RhoGEF and pleckstrin domain-containing protein 2FGD1-related Cdc42-GEFPH domain-containing family C member 3pleckst
Modification date20180519
UniProtAcc

O94887

ContextPubMed: FARP2 [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
FARP2

GO:0016322

neuron remodeling

12351724

FARP2

GO:0016601

Rac protein signal transduction

12351724


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Exon skipping events across known transcript of Ensembl for FARP2 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 FARP2

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 FARP2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3360062242295713:242295803:242312498:242312705:242343242:242343317242312498:242312705ENSG00000006607.9ENST00000545004.1,ENST00000373287.4
exon_skip_3360072242312603:242312705:242326569:242326727:242343242:242343317242326569:242326727ENSG00000006607.9ENST00000464142.1
exon_skip_3360082242312603:242312705:242334857:242334873:242343242:242343347242334857:242334873ENSG00000006607.9ENST00000478489.1
exon_skip_3360142242343242:242343347:242344213:242344256:242344670:242344818242344213:242344256ENSG00000006607.9ENST00000473082.1
exon_skip_3360152242343242:242343347:242344213:242344256:242346951:242347023242344213:242344256ENSG00000006607.9ENST00000545004.1,ENST00000264042.3,ENST00000418082.1,ENST00000373287.4
exon_skip_3360192242344213:242344256:242346951:242347030:242350447:242350545242346951:242347030ENSG00000006607.9ENST00000545004.1,ENST00000264042.3,ENST00000373287.4
exon_skip_3360212242371093:242371189:242373572:242373736:242374376:242374445242373572:242373736ENSG00000006607.9ENST00000545004.1,ENST00000264042.3,ENST00000373287.4
exon_skip_3360222242373644:242373736:242374376:242374445:242375895:242375953242374376:242374445ENSG00000006607.9ENST00000545004.1,ENST00000264042.3,ENST00000413432.2,ENST00000373287.4
exon_skip_3360232242374376:242374445:242375895:242375953:242380718:242380971242375895:242375953ENSG00000006607.9ENST00000545004.1,ENST00000264042.3,ENST00000413432.2,ENST00000373287.4
exon_skip_3360272242375895:242375953:242380718:242380971:242396161:242396337242380718:242380971ENSG00000006607.9ENST00000545004.1,ENST00000264042.3,ENST00000373287.4
exon_skip_3360362242407554:242407792:242415271:242415402:242422879:242422948242415271:242415402ENSG00000006607.9ENST00000264042.3
exon_skip_3360412242430930:242431094:242432343:242432451:242432707:242432859242432343:242432451ENSG00000006607.9ENST00000264042.3,ENST00000470617.1
exon_skip_3360432242432343:242432451:242432707:242432859:242433422:242433534242432707:242432859ENSG00000006607.9ENST00000264042.3,ENST00000470617.1
exon_skip_3360452242432807:242432859:242433422:242433556:242433891:242434255242433422:242433556ENSG00000006607.9ENST00000412332.1

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

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Exon skipping events with PSIs in GTEx for FARP2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3360062242295713:242295803:242312498:242312705:242343242:242343317242312498:242312705ENSG00000006607.9ENST00000545004.1,ENST00000373287.4
exon_skip_3360072242312603:242312705:242326569:242326727:242343242:242343317242326569:242326727ENSG00000006607.9ENST00000464142.1
exon_skip_3360082242312603:242312705:242334857:242334873:242343242:242343347242334857:242334873ENSG00000006607.9ENST00000478489.1
exon_skip_3360142242343242:242343347:242344213:242344256:242344670:242344818242344213:242344256ENSG00000006607.9ENST00000473082.1
exon_skip_3360152242343242:242343347:242344213:242344256:242346951:242347023242344213:242344256ENSG00000006607.9ENST00000264042.3,ENST00000545004.1,ENST00000373287.4,ENST00000418082.1
exon_skip_3360192242344213:242344256:242346951:242347030:242350447:242350545242346951:242347030ENSG00000006607.9ENST00000264042.3,ENST00000545004.1,ENST00000373287.4
exon_skip_3360212242371093:242371189:242373572:242373736:242374376:242374445242373572:242373736ENSG00000006607.9ENST00000264042.3,ENST00000545004.1,ENST00000373287.4
exon_skip_3360222242373644:242373736:242374376:242374445:242375895:242375953242374376:242374445ENSG00000006607.9ENST00000264042.3,ENST00000545004.1,ENST00000373287.4,ENST00000413432.2
exon_skip_3360232242374376:242374445:242375895:242375953:242380718:242380971242375895:242375953ENSG00000006607.9ENST00000264042.3,ENST00000545004.1,ENST00000373287.4,ENST00000413432.2
exon_skip_3360272242375895:242375953:242380718:242380971:242396161:242396337242380718:242380971ENSG00000006607.9ENST00000264042.3,ENST00000545004.1,ENST00000373287.4
exon_skip_3360362242407554:242407792:242415271:242415402:242422879:242422948242415271:242415402ENSG00000006607.9ENST00000264042.3
exon_skip_3360412242430930:242431094:242432343:242432451:242432707:242432859242432343:242432451ENSG00000006607.9ENST00000264042.3,ENST00000470617.1
exon_skip_3360432242432343:242432451:242432707:242432859:242433422:242433534242432707:242432859ENSG00000006607.9ENST00000264042.3,ENST00000470617.1
exon_skip_3360452242432807:242432859:242433422:242433556:242433891:242434255242433422:242433556ENSG00000006607.9ENST00000412332.1

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 FARP2

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
ENST00000264042242344213242344256Frame-shift
ENST00000264042242346951242347030Frame-shift
ENST00000264042242373572242373736Frame-shift
ENST00000264042242375895242375953Frame-shift
ENST00000264042242380718242380971Frame-shift
ENST00000264042242415271242415402Frame-shift
ENST00000264042242432707242432859Frame-shift
ENST00000264042242374376242374445In-frame
ENST00000264042242432343242432451In-frame

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
ENST00000264042242344213242344256Frame-shift
ENST00000264042242346951242347030Frame-shift
ENST00000264042242373572242373736Frame-shift
ENST00000264042242375895242375953Frame-shift
ENST00000264042242380718242380971Frame-shift
ENST00000264042242415271242415402Frame-shift
ENST00000264042242432707242432859Frame-shift
ENST00000264042242374376242374445In-frame
ENST00000264042242432343242432451In-frame

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Infer the effects of exon skipping event on protein functional features for FARP2

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
ENST000002640424068105424237437624237444512021270344366
ENST000002640424068105424243234324243245129583065929965

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
ENST000002640424068105424237437624237444512021270344366
ENST000002640424068105424243234324243245129583065929965

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
O9488734436611054ChainID=PRO_0000232755;Note=FERM%2C ARHGEF and pleckstrin domain-containing protein 2
O94887344366366366Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O948879299656391054Alternative sequenceID=VSP_054841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O948879299656481054Alternative sequenceID=VSP_017978;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9488792996511054ChainID=PRO_0000232755;Note=FERM%2C ARHGEF and pleckstrin domain-containing protein 2
O948879299659291026DomainNote=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145


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
O9488734436611054ChainID=PRO_0000232755;Note=FERM%2C ARHGEF and pleckstrin domain-containing protein 2
O94887344366366366Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O948879299656391054Alternative sequenceID=VSP_054841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O948879299656481054Alternative sequenceID=VSP_017978;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9488792996511054ChainID=PRO_0000232755;Note=FERM%2C ARHGEF and pleckstrin domain-containing protein 2
O948879299659291026DomainNote=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145


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SNVs in the skipped exons for FARP2

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.
FARP2_ESCA_exon_skip_336006_psi_boxplot.png
boxplot

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-A1EG-01exon_skip_336021
242373573242373736242373597242373597Frame_Shift_DelT-p.F298fs
LIHCTCGA-DD-A1EG-01exon_skip_336021
242373573242373736242373660242373660Frame_Shift_DelT-p.F320fs
LIHCTCGA-DD-A1EG-01exon_skip_336021
242373573242373736242373660242373660Frame_Shift_DelT-p.T318fs
LIHCTCGA-DD-A3A0-01exon_skip_336021
242373573242373736242373660242373660Frame_Shift_DelT-p.T318fs
LIHCTCGA-DD-A1EG-01exon_skip_336021
242373573242373736242373670242373670Frame_Shift_DelT-p.L323fs
LIHCTCGA-DD-A1EG-01exon_skip_336027
242380719242380971242380730242380730Frame_Shift_DelC-p.F390fs
LIHCTCGA-DD-A39Y-01exon_skip_336027
242380719242380971242380756242380756Frame_Shift_DelC-p.S399fs
LIHCTCGA-G3-A3CJ-01exon_skip_336027
242380719242380971242380756242380756Frame_Shift_DelC-p.S399fs
LIHCTCGA-DD-A1EG-01exon_skip_336027
242380719242380971242380916242380916Frame_Shift_DelC-p.G452fs
LIHCTCGA-G3-A3CJ-01exon_skip_336043
242432708242432859242432810242432810Frame_Shift_DelA-p.K1000fs
LIHCTCGA-DD-A1EG-01exon_skip_336045
242433423242433556242433441242433441Frame_Shift_DelG-p.Q1022fs
LIHCTCGA-DD-A39Y-01exon_skip_336045
242433423242433556242433441242433441Frame_Shift_DelG-p.Q1022fs
LIHCTCGA-G3-A3CJ-01exon_skip_336045
242433423242433556242433458242433458Frame_Shift_DelC-p.A1028fs
HNSCTCGA-CV-7248-01exon_skip_336021
242373573242373736242373725242373726Frame_Shift_Ins-Tp.Q341fs
HNSCTCGA-CV-7248-01exon_skip_336021
242373573242373736242373725242373726Frame_Shift_Ins-Tp.S340fs
ACCTCGA-OR-A5JG-01exon_skip_336045
242433423242433556242433486242433487Frame_Shift_Ins-Gp.P1038fs
HNSCTCGA-CV-5430-01exon_skip_336045
242433423242433556242433486242433487Frame_Shift_Ins-Gp.P1038fs
KIRPTCGA-P4-A5EA-01exon_skip_336045
242433423242433556242433486242433487Frame_Shift_Ins-Gp.D1037fs
LUADTCGA-55-A48Y-01exon_skip_336019
242346952242347030242347008242347008Nonsense_MutationCTp.Q130*
COADTCGA-A6-6782-01exon_skip_336021
242373573242373736242373601242373601Nonsense_MutationTAp.L299X
LUSCTCGA-66-2734-01exon_skip_336021
242373573242373736242373648242373648Nonsense_MutationGTp.E315*
BRCATCGA-C8-A134-01exon_skip_336027
242380719242380971242380741242380741Nonsense_MutationTAp.L394*
UCECTCGA-BS-A0UV-01exon_skip_336043
242432708242432859242432824242432824Nonsense_MutationCAp.Y1004*
ESCATCGA-2H-A9GM-01exon_skip_336006
242312499242312705242312706242312706Splice_SiteGT.
ESCATCGA-2H-A9GM-01exon_skip_336006
242312499242312705242312706242312706Splice_SiteGTe1+1
BRCATCGA-A2-A0SX-01exon_skip_336006
242312499242312705242312707242312707Splice_SiteTAe1+2
UCECTCGA-AP-A051-01exon_skip_336014
exon_skip_336015
242344214242344256242344257242344257Splice_SiteGTe3+1
LUSCTCGA-66-2786-01exon_skip_336041
242432344242432451242432343242432343Splice_SiteGAp.N930_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
FARP2_242432807_242432859_242433422_242433556_242433891_242434255_TCGA-P4-A5EA-01Sample: TCGA-P4-A5EA-01
Cancer type: KIRP
ESID: exon_skip_336045
Skipped exon start: 242433423
Skipped exon end: 242433556
Mutation start: 242433486
Mutation end: 242433487
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.D1037fs
exon_skip_336045_KIRP_TCGA-P4-A5EA-01.png
boxplot
FARP2_242295713_242295803_242312498_242312705_242343242_242343317_TCGA-2H-A9GM-01Sample: TCGA-2H-A9GM-01
Cancer type: ESCA
ESID: exon_skip_336006
Skipped exon start: 242312499
Skipped exon end: 242312705
Mutation start: 242312706
Mutation end: 242312706
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: .
FARP2_242295713_242295803_242312498_242312705_242343242_242343317_TCGA-2H-A9GM-01Sample: TCGA-2H-A9GM-01
Cancer type: ESCA
ESID: exon_skip_336006
Skipped exon start: 242312499
Skipped exon end: 242312705
Mutation start: 242312706
Mutation end: 242312706
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: e1+1
exon_skip_336006_ESCA_TCGA-2H-A9GM-01.png
boxplot
exon_skip_99964_ESCA_TCGA-2H-A9GM-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LS411N_LARGE_INTESTINE242373573242373736242373660242373660Frame_Shift_DelT-p.F320fs
RKO_LARGE_INTESTINE242380719242380971242380947242380947Frame_Shift_DelC-p.P464fs
LS411N_LARGE_INTESTINE242433423242433556242433524242433524Frame_Shift_DelG-p.R1050fs
HEC265_ENDOMETRIUM242346952242347030242346986242346987Frame_Shift_Ins-Tp.F123fs
NCIH513_PLEURA242312499242312705242312625242312625Missense_MutationCGp.L35V
MFE280_ENDOMETRIUM242312499242312705242312657242312657Missense_MutationCGp.H45Q
SARC9371_BONE242312499242312705242312688242312688Missense_MutationGAp.E56K
HT115_LARGE_INTESTINE242344214242344256242344233242344233Missense_MutationACp.K103T
KPNRTBM1_AUTONOMIC_GANGLIA242346952242347030242346964242346964Missense_MutationTCp.V115A
HCC2450_LUNG242373573242373736242373634242373634Missense_MutationGCp.W310S
SNU1040_LARGE_INTESTINE242373573242373736242373700242373700Missense_MutationCTp.A332V
HEC251_ENDOMETRIUM242374377242374445242374395242374395Missense_MutationACp.Q350H
BICR18_UPPER_AERODIGESTIVE_TRACT242374377242374445242374408242374408Missense_MutationTGp.F355V
BICR18_UPPER_AERODIGESTIVE_TRACT242374377242374445242374417242374417Missense_MutationAGp.S358G
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242375896242375953242375936242375936Missense_MutationGAp.A381T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242380719242380971242380768242380768Missense_MutationCTp.A403V
OV90_OVARY242380719242380971242380926242380926Missense_MutationCTp.P456S
OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242415272242415402242415305242415305Missense_MutationCTp.T722I
CCK81_LARGE_INTESTINE242415272242415402242415314242415314Missense_MutationAGp.H725R
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242415272242415402242415342242415342Missense_MutationGTp.Q734H
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242432344242432451242432447242432447Missense_MutationAGp.H964R
HCC44_LUNG242432708242432859242432750242432750Missense_MutationGAp.V980M
ECGI10_OESOPHAGUS242432708242432859242432773242432773Missense_MutationTGp.D987E
NUGC3_STOMACH242432708242432859242432789242432789Missense_MutationTCp.Y993H
TE12_OESOPHAGUS242433423242433556242433458242433458Missense_MutationCGp.A1028G
A253_SALIVARY_GLAND242433423242433556242433535242433535Missense_MutationGAp.E1054K
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242344214242344256242344253242344253Nonsense_MutationCTp.R110*
HT55_LARGE_INTESTINE242373573242373736242373666242373666Nonsense_MutationATp.R321*
NCIH2286_LUNG242346952242347030242346952242346952Splice_SiteGTp.R111M
CL34_LARGE_INTESTINE242415272242415402242415401242415401Splice_SiteGTp.R754M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FARP2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3360432242432343:242432451:242432707:242432859:242433422:242433534242432707:242432859ENST00000264042.3,ENST00000470617.1PRADrs2271030chr2:242432704G/C2.78e-03
exon_skip_3360432242432343:242432451:242432707:242432859:242433422:242433534242432707:242432859ENST00000264042.3,ENST00000470617.1PRADrs2271030chr2:242432704G/C2.78e-03
exon_skip_3360272242375895:242375953:242380718:242380971:242396161:242396337242380718:242380971ENST00000545004.1,ENST00000264042.3,ENST00000373287.4LIHCrs2302015chr2:242380748T/A1.78e-06
exon_skip_3360272242375895:242375953:242380718:242380971:242396161:242396337242380718:242380971ENST00000545004.1,ENST00000264042.3,ENST00000373287.4LIHCrs2302015chr2:242380748T/A2.47e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FARP2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FARP2


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RelatedDrugs for FARP2

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 FARP2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
FARP2C0004352Autistic Disorder1CTD_human
FARP2C0023434Chronic Lymphocytic Leukemia1CTD_human
FARP2C2931817Chromosome 2q37 deletion syndrome1CTD_human