HsaEX0037808 @ hg38
Exon Skipping
Gene
ENSG00000119487 | MAPKAP1
Description
mitogen-activated protein kinase associated protein 1 [Source:HGNC Symbol;Acc:HGNC:18752]
Coordinates
chr9:125484443-125543168:-
Coord C1 exon
chr9:125543059-125543168
Coord A exon
chr9:125506310-125506417
Coord C2 exon
chr9:125484443-125484583
Length
108 bp
Sequences
Splice sites
3' ss Seq
CTGCCCCTTTGATCTTCCAGGCC
3' ss Score
11.02
5' ss Seq
ACAGTACGT
5' ss Score
7.54
Exon sequences
Seq C1 exon
AAATGCTGCTCATGGATTCTCCCTTATTCAGGTGGACAACACAAAGGTTACCATGAAGGAAATCTTACTGAAGGCAGTGAAGCGAAGAAAAGGATCCCAGAAAGTTTCAG
Seq A exon
GCCCTCAGTACCGCCTGGAGAAGCAGAGCGAGCCCAATGTCGCCGTTGACCTGGACAGCACTTTGGAGAGCCAGAGCGCATGGGAGTTCTGCCTGGTCCGCGAGAACA
Seq C2 exon
GTTCAAGGGCAGACGGGGTTTTTGAGGAGGATTCGCAAATTGACATAGCCACAGTACAGGATATGCTTAGCAGCCACCATTACAAGTCATTCAAAGTCAGCATGATCCACAGACTGCGATTCACAACCGACGTACAGCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119487_MULTIEX2-1/7=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.053 A=0.263 C2=0.020
Domain overlap (PFAM):
C1:
PF054227=SIN1=FE(12.1=100),PF054227=SIN1=PU(2.3=7.9)
A:
PF054227=SIN1=FE(10.6=100),PF054227=SIN1=PU(2.5=5.4)
C2:
PF054227=SIN1=PD(1.3=8.3),PF054227=SIN1=FE(36.4=100)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGCTCATGGATTCTCCCT
R:
GTACGTCGGTTGTGAATCGCA
Band lengths:
242-350
Functional annotations
There are 1 annotated functions for this event
PMID: 16919458
[No functional differences found]. Immunoprecipitation demonstrates that mSin1.1 (all included), mSin1.2 (skipping of HsaEX0037808), and mSin1.5 (AI and APA) integrate into mTORC2 complexes. Insulin treatment increases the kinase activity of mSin1.1 and mSin1.2 but not mSin1.5 complexes.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development