Last updated: 2024-12-30 427965 annotations 4705 curated publications
Ontology term: abnormal RNA splicing (FYPO:0002915)
Definition Parents
A cellular process phenotype in which RNA splicing is abnormal. All RNA splicing may be abnormal, or one splicing of or more specific RNA molecules may be selectively affected. is_a abnormal RNA metabolic process
is_a abnormal gene expression
Single locus phenotype annotations for FYPO:0002915 and its descendants
Cell
Filters:
+ abnormal mRNA splicing, via spliceosome
prp1-116(unknown) ,   prp1-127(unknown) ,   prp4-73(C235Y aa) ,   spt5-degron[Knockdown] ,   rbm10Δ
+ abnormal spliceosomal complex assembly
gem8+[Knockdown] ,   tdSMN(Ub-DHFRts-smn1)
+ abolished mRNA splicing, via spliceosome
mis11-453(D307N aa) affecting ade2 , cdc2 , nda3 , rpl701 , rpl702 , taf1
prp1-4(L616I,S779L aa) affecting ade2 , cdc2 , nda3 , rpl701 , rpl702 , taf1
prp10-1(A1050V,S1058F aa) affecting ade2 , cdc2 , nda3 , rpl701 , rpl702 , taf1
prp2-2(T259I aa) affecting ade2 , cdc2 , nda3 , rpl701 , rpl702 , taf1
prp2-C387Y(aa) affecting ade2 , cdc2 , nda3 , rpl701 , rpl702 , taf1
prp4-73(C235Y aa) affecting dis2
rna14-11(R316Q aa) affecting chk1 , mad2 , nda3 , rad21
+ abolished U2-type prespliceosome assembly
prp11-AEAD(D575A aa) ,   prp11-DAAD(E576A aa) ,   prp11-GAT(K468A aa) ,   prp11-GKA(T469A aa) ,   prp11-SAA(T608A aa) ,   prp2-2(T259I aa) ,   prp2-3(unknown) ,   prp2-C387Y(aa) ,   snu2+[Knockdown]
+ altered splice site specificity
snu1-C7G(nt) ,   snu1-C7T,T8C(nt) ,   snu1-C7T(nt) ,   snu1-T8C(nt) ,   snu1-T8G(nt)
+ decreased mRNA splicing, meiotic genes
fal1Δ/fal1Δ ,   mnh1Δ/mnh1Δ ,   red1Δ/red1Δ ,   red5-2(I234Y aa)/red5-2(I234Y aa)
+ decreased mRNA splicing, via spliceosome
bpb1-2A(S131A,S133A aa) ,   cwf10-2-23Δ(aa) ,   cwf10-NTE(2-127 Δaa) ,   cwf15-32(unknown) ,   dsk1-as(unknown) ,   mpn1Δ ,   pac1-A342T(aa) ,   prp2-1(unknown) ,   prp4-as(F238G aa) ,   gem8+[Knockdown] ,   prp16-DAmP(CDS.prp16:natMX6:3UTR.prp16)[Overexpression] ,   rbm10+[Overexpression] ,   swc5Δ ,   swr1Δ ,   uap2-DAmP(CDS.uap2:natMX6:3UTR.uap2)[Overexpression]
aar2Δ affecting rap1
cay1Δ affecting est1 , pot1 , poz1 , rap1 , tbp1 , trt1
cdc28-P8(unknown) affecting tbp1
cdc5+[Knockdown] affecting taf1
cwf11Δ affecting rap1
cwf12Δ affecting rap1
cwf19Δ affecting rap1
cyp1Δ affecting rap1
dre4Δ affecting rap1
dsk1Δ affecting tbp1
meu5-E33(T386G-primary_transcript) affecting crp79
mnh1Δ affecting rap1
nrl1-S122A,S131A(aa) affecting mug161
nrl1-S86A,S112A(aa) affecting mug161
nrl1-S86A,S112A,S122A,S131A(aa) affecting mug161
nrl1-S86A,S112A,S122A,S131A,S970A(aa) affecting mug161
prp1-4(L616I,S779L aa) affecting taf1
prp10-1(A1050V,S1058F aa) affecting nda3 , rlp7 , taf1
prp11-1(unknown) affecting rpl701 , rpl702 , taf1
prp12-1(G3340A nt) affecting taf1
prp13-1(G35A nt) affecting arb2 , taf1
prp16-1(unknown) affecting taf1
prp16-2(Q140*) affecting ago1 , arb2 , dsh1 , ers1 , hrr1 , sir2 , taf1
prp16-F528S(aa) affecting apl5 , mdm35 , nda3 , seb1 and dga1 and sec6102 , tbp1
prp17Δ affecting rap1
prp2-2(T259I aa) affecting taf1 , tbp1
prp2-9(E256A,D257A aa) affecting cam1 , cgs2 , nda3
prp2-C387Y(aa) affecting cam1 , cdc2 , cgs2 , nda3 , taf1
prp22-S663A(aa) affecting tbp1
prp3-2(unknown) affecting nda3
prp3-3(unknown) affecting taf1
prp3-4(unknown) affecting taf1
prp3-5(unknown) affecting taf1
prp31-E1(unknown) affecting his3 , taf1
prp4-73(C235Y aa) affecting taf1
prp4-as2(F238A aa) affecting ppk8 , res1 , tbp1
prp4-K188I(aa)[Overexpression] affecting taf1
prp5-1(unknown) affecting nda3
prp8-1(unknown) affecting taf1 , tbp1
pwi1Δ affecting rap1
rna14-A394E(aa) affecting chk1 , rad21
saf1Δ affecting rap1
saf5Δ affecting atg1 , duc1 , rap1 , uvi15 , ypt1
spo14-B221(T1161A nt) affecting spo14
tdSMN(Ub-DHFRts-smn1) affecting cdc3
tls1Δ affecting poz1 , rap1
uaf2+[Knockdown] affecting cdc16
wdr83Δ affecting rap1
+ decreased mRNA splicing, via spliceosome, intron-specific
hub1-1(I42S aa)[Knockdown] ,   prp11-AAAA(DPLD303AAAA aa) ,   prp2-C387Y(aa) ,   tdSMN(Ub-DHFRts-smn1) ,   prp4-as2(F238A aa) ,   sde2Δ
bmc1Δ affecting bor1
sde2Δ affecting apc10 , atp10 , bqt3 , dcd1 , dom34 , eaf1 , ftp105 , gga22 , gnd1 , hif2 , kap114 , mcs2 , mks1 , mmp2 , naa20 , osh42 , paa1 , pdx1 , pex7 , pku70 , plp2 , pre10 , psf3 , ptl2 , rap1 , rga4 , rxt2 , tbp1 , ubc11 , vid21 , vma5 , ypt5 , SPAC16A10.03c , SPAC212.06c , SPBC16E9.15
snu1-A1C(nt) affecting cdc2 , nda3
snu1-A1G(nt) affecting cdc2 , nda3
snu1-U3C(T3C nt) affecting cdc2 , nda3
+ decreased RNA splicing
ctr1Δ affecting ter1
gih35Δ affecting fet5 , pwi1
gpl1Δ affecting fet5 , pwi1
ppr10Δ affecting cob1 , cox1
wdr83Δ affecting fet5 , pwi1
+ decreased snRNA splicing
cdc28-P8(unknown) affecting snu6
cdc5+[Knockdown] affecting snu6
mpn1Δ affecting U6_snRNA
pac1-A342T(aa) affecting snu2 , snu6
prp1-1(G705D aa) affecting snu6
prp1-4(L616I,S779L aa) affecting snu6
prp1-ts(unknown) affecting snu6
prp10-1(A1050V,S1058F aa) affecting snu6
prp11-1(unknown) affecting snu6
prp12-1(G3340A nt) affecting snu6
prp13-1(G35A nt) affecting snu6
prp16-1(unknown) affecting snu6
prp16-2(Q140*) affecting snu6
prp2-2(T259I aa) affecting snu6
prp2-C387Y(aa) affecting snu6
prp2-ts(unknown) affecting snu6
prp3-2(unknown) affecting snu6
prp3-3(unknown) affecting snu6
prp3-4(unknown) affecting snu6
prp3-5(unknown) affecting snu6
prp3-ts(unknown) affecting snu6
prp4-2(unknown) affecting snu6
prp5-1(unknown) affecting snu6
prp8-1(unknown) affecting snu6
saf5Δ affecting snu6
snoZ30Δ affecting snu6
snu1+[Knockdown] affecting cdc2
+ decreased splicing of introns with branch point-distant 3’-splice site
cay1Δ ,   sde2(AAKGG)(G83A,G84A aa) ,   sde2(GGMGG)(K85M aa) ,   tls1Δ
sde2Δ affecting ftp105 , pyp3 , rap1
+ decreased splicing of long introns
slu7-2(I374G aa)[Knockdown]
+ decreased splicing of mRNA introns with low A/U content
slu7-2(I374G aa)[Knockdown]
+ decreased splicing of mRNA introns with low A/U content and polypyrimidine tracts distal to branch site
saf5Δ
+ decreased splicing of mRNA introns with nonconsensus cis-splicing sequences
pht1Δ affecting aig1
+ exon skipping
ods1-1(G919A nt) ,   ods1-2(C1148A nt) ,   ods2-1(C149W aa) ,   ods3-1(Q101K aa)
+ increased antisense primary transcript splicing
spt6-1(856-919 Δaa)
+ increased intron retention
bmc1Δ ,   ctr1Δ ,   mtl1-17(unknown) ,   red1Δ ,   rrp6Δ ,   mtl1Δ ,   nrl1Δ
bmc1Δ affecting pud1
rtf2Δ affecting rtf1
sde2Δ affecting atg20 , dsh1 , hif2 , rap1
tls1Δ affecting dsh1 , hif2
+ increased mRNA splicing, via spliceosome
cdc2-I2mut(TTGACG287ACACAT nt) affecting cdc2
rps2201Δ affecting rps2202
+ increased RNA splicing
mtl1-1(I522M,L543P,Y551H,L557P,D793G,A998V aa) affecting ter1
+ increased RNA splicing at cryptic splice sites
mtl1-1(I522M,L543P,Y551H,L557P,D793G,A998V aa) ,   red1Δ ,   rrp6Δ
cdc2-I2mut(TTGACG287ACACAT nt) affecting cdc2
Multi-locus phenotype annotations for FYPO:0002915 and its descendants
Cell
Filters:
+ abolished mRNA splicing, via spliceosome
ppk8'-1(G67C nt) ppk8+ prp4-as2(F238A aa) affecting ppk8
ppk8'-3(A476T nt) ppk8+ prp4-as2(F238A aa) affecting ppk8
prp4-as2(F238A aa) res1'-2A(T229A,T230A,A341T nt) res1+ affecting res1
prp4-as2(F238A aa) res1'-2C(T229A,T230A,T339G nt) res1+ affecting res1
prp4-as2(F238A aa) res1'-3(G227C,T229A,T230A nt) res1+ affecting res1
prp4-as2(F238A aa) res1'-8(T979A nt) res1+ affecting res1
prp4-as2(F238A aa) res1'-B(A340T nt) res1+ affecting res1
prp4-as2(F238A aa) res1'-D(C338G nt) res1+ affecting res1
prp4-as2(F238A aa) res1'-E(C342G nt) res1+ affecting res1
+ decreased mRNA splicing, via spliceosome
pht1Δ prp16-DAmP(CDS.prp16:natMX6:3UTR.prp16)[Overexpression] ,   pht1Δ usp107-DAmP(CDS.usp107:natMX6:3UTR.usp107)[Overexpression]
acp1Δ tdSMN(Ub-DHFRts-smn1) affecting cdc3
ppk8'-2(A476T,T477A nt) ppk8+ prp4-as2(F238A aa) affecting ppk8
ppk8'-4(T64A,C65T,A69T nt) ppk8+ prp4-as2(F238A aa) affecting ppk8
ppk8'-5(T64A,G66C nt) ppk8+ prp4-as2(F238A aa) affecting ppk8
ppk8'-6(T64C,G66C nt) ppk8+ prp4-as2(F238A aa) affecting ppk8
prp16-F528S(aa) prp22-S663A(aa) affecting tbp1
prp4-73(C235Y aa) spp41-1(unknown) affecting dis2
prp4-73(C235Y aa) spp42-1(unknown) affecting dis2
prp4-as2(F238A aa) res1'-12(A224T,A225T,G226C,T229A,T230A nt) res1+ affecting res1
prp4-as2(F238A aa) res1'-13(A225T,G226C,T229A,T230A nt) res1+ affecting res1
prp4-as2(F238A aa) res1'-2B(T229A,T230A,A340T nt) res1+ affecting res1
prp4-as2(F238A aa) res1'-6(T229A,T230A,G231A nt) res1+ affecting res1
+ decreased mRNA splicing, via spliceosome, intron-specific
ubp15Δ ubp5Δ affecting mcs2 , psf3 , rap1
+ decreased splicing of introns with branch point-distant 3’-splice site
ubp15Δ ubp5Δ
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