2,782
|
25721 |
alternative mRNA splicing, via spliceosome
|
|
affects_activity of
|
MAPT
|
via alternative splicing of tau exon 10; resulting in different microtubule-binding repeats in TAU protein;
|
25732 |
alternative mRNA splicing, via spliceosome
|
|
affects_activity of
|
TRA2B1
|
|
25742 |
alternative mRNA splicing, via spliceosome
|
|
affects_activity of
|
PSEN2
|
|
25743 |
alternative mRNA splicing, via spliceosome
|
|
affects_activity of
|
CLK2
|
|
25744 |
TRA2B1
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
of TAU exon 10
|
25747 |
CLK2
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
of TAU exon 10
|
25780 |
Alzheimer disease
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
|
25785 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
MAPT-var (4R)
|
= TAU isoform containing four microtubule-binding repeats
with (4R) or without exon 10 (3R).
|
25786 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
TRA2B1
|
|
25787 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
CLK2-var (inactive)
|
|
25788 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
PSEN2-var
|
|
|
16371011
|
2,804
|
25871 |
SRSF2
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
of MAPT/TAU exon 10
|
25892 |
MAPT-mut (enhancer)
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
of MAPT / TAU exon 10
|
|
21470964
|
2,811
|
25925 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
MAPT-var (3R)
|
TAU (3R) = TAU isoform containing three microtubule-binding repeats.
|
25926 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
MAPT-var (4R)
|
TAU (4R) = TAU isoform containing four microtubule-binding repeats.
|
|
21281635
|
2,828
|
26118 |
PRKACA
|
|
increases_activity of
|
alternative mRNA splicing, via spliceosome
|
of TAU exon 10
|
26119 |
SRSF1
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
of TAU exon 10
|
|
21367856
|
2,873
|
26469 |
MAPT-mut
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
resulting in excess exon 10 (E10) inclusion.
|
|
19498037
|
2,893
|
26606 |
RBM4
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
|
|
16777844
|
2,903
|
26652 |
SRSF2
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
of tau exon 10
|
|
21333649
|
2,909
|
26675 |
alternative mRNA splicing, via spliceosome
|
|
affects_activity of
|
Tauopathy
|
|
26684 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
MAPT-var (4R)
|
|
26685 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
MAPT-var (3R)
|
|
26752 |
SRSF2-phos
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
|
|
20615469
|
2,970
|
27048 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
MAPT-var
|
neuron-specific tau transcript produces multiple isoforms
|
27050 |
alternative mRNA splicing, via spliceosome
|
|
affects_activity of
|
neurodegeneration
|
e.g. aberrations in tau splicing regulation increase neurodegenerative diseases
|
|
15615629
|
2,985
|
27194 |
DDX5
|
|
increases_activity of
|
alternative mRNA splicing, via spliceosome
|
|
27203 |
RBM4
|
|
affects_activity of
|
alternative mRNA splicing, via spliceosome
|
|
|
21343338
|
3,178
|
95725 |
alternative mRNA splicing, via spliceosome
|
|
affects_activity of
|
MAPT
|
concerning mutations of MAPT exon10
|
|
16230627
|
8,772
|
91271 |
sex, female
|
|
increases_activity of
|
alternative mRNA splicing, via spliceosome
|
in AD female brains; concerning the alternative splicing of ERalpha mRNA
|
124739 |
Alzheimer disease
|
|
decreases_activity of
|
alternative mRNA splicing, via spliceosome
|
in AD female brains; concerning the alternative splicing of ERalpha mRNA
|
124740 |
female brain
|
|
increases_activity of
|
alternative mRNA splicing, via spliceosome
|
in AD female brains; concerning the alternative splicing of ERalpha mRNA
|
|
20417581
|
8,907
|
92994 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP-var
|
in mammals; due to alternative splicing of three exons 7, 8, and 15
|
93474 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP770
|
in humans; includes KPI, OX2, and exon 15
|
93475 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP751
|
in humans; includes KPI and exon 15, without OX2
|
93476 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP714
|
in humans; without KPI, includes OX2 and exon 15
|
93477 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP695
|
in humans; without KPI, without OX2, with exon 15
|
93478 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP752
|
in humans; includes KPI and OX2, without exon 15
|
93479 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP733
|
in humans; includes KPI, without OX2, without exon 15
|
93480 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP696
|
in humans; without KPI, includes OX2, without exon 15
|
93481 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP677
|
in humans; without KPI, without OX2, without exon 15
|
93482 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APLP2-763
|
in humans; with 12aa exon
|
93483 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APLP2-707
|
in humans; with 12aa exon
|
93484 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APLP2-751
|
in humans; without 12aa exon
|
93485 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APLP2-695
|
in humans; without 12aa exon
|
|
8624099
|
8,946
|
93486 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP-var
|
in mammals; due to alternative splicing of three exons 7, 8, and 15
|
93487 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP770
|
in rat; includes KPI, OX2, and exon 15
|
93488 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP751
|
in rat; includes KPI and exon 15, without OX2
|
93489 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP714
|
in rat; without KPI, includes OX2 and exon 15
|
93490 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP695
|
in rat; without KPI, without OX2, with exon 15
|
93491 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP752
|
in rat; includes KPI and OX2, without exon 15
|
93492 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP733
|
in rat; includes KPI, without OX2, without exon 15
|
93493 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP696
|
in rat; without KPI, includes OX2, without exon 15
|
93494 |
alternative mRNA splicing, via spliceosome
|
|
increases_quantity of
|
APP677
|
in rat; without KPI, without OX2, without exon 15
|
|
8624099
|
9,697
|
102322 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
LEPRa
|
concerning alternative splicing during LepR-coding db gene expression; resulting in six different LepR isoforms (LepRa-f)
|
102375 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
LEPRb
|
concerning alternative splicing during LepR-coding db gene expression; resulting in six different LepR isoforms (LepRa-f)
|
102376 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
LEPRc
|
concerning alternative splicing during LepR-coding db gene expression; resulting in six different LepR isoforms (LepRa-f)
|
102377 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
LEPRd
|
concerning alternative splicing during LepR-coding db gene expression; resulting in six different LepR isoforms (LepRa-f)
|
102378 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
LEPRe
|
concerning alternative splicing during LepR-coding db gene expression; resulting in six different LepR isoforms (LepRa-f)
|
102379 |
alternative mRNA splicing, via spliceosome
|
|
affects_quantity of
|
LEPRf
|
concerning alternative splicing during LepR-coding db gene expression; resulting in six different LepR isoforms (LepRa-f)
|
|
30692905
|