Special

HsaEX0037814 @ hg38

Exon Skipping

Gene
ENSG00000119487 | MAPKAP1
Description
mitogen-activated protein kinase associated protein 1 [Source:HGNC Symbol;Acc:HGNC:18752]
Coordinates
chr9:125543059-125585727:-
Coord C1 exon
chr9:125585555-125585727
Coord A exon
chr9:125559633-125559809
Coord C2 exon
chr9:125543059-125543168
Length
177 bp
Sequences
Splice sites
3' ss Seq
CTTTTTGGTTTTCCTTTCAGTGA
3' ss Score
10.51
5' ss Seq
AATGTGAGT
5' ss Score
7.8
Exon sequences
Seq C1 exon
GGTCATGTAGGTACAACAGCAACCAAGAAGATCGATGTCTACCTCCCTCTGCACTCGAGCCAGGACAGACTGCTGCCAATGACCGTGGTGACAATGGCCAGCGCCAGGGTGCAGGACCTGATCGGGCTCATCTGCTGGCAGTATACAAGCGAAGGACGGGAGCCGAAGCTCAA
Seq A exon
TGACAATGTCAGTGCCTACTGCCTGCATATTGCTGAGGATGATGGGGAGGTGGACACCGATTTCCCCCCGCTGGATTCCAATGAGCCCATTCATAAGTTTGGCTTCAGTACTTTGGCCCTGGTTGAAAAGTACTCATCTCCTGGTCTGACATCCAAAGAGTCACTCTTTGTTCGAAT
Seq C2 exon
AAATGCTGCTCATGGATTCTCCCTTATTCAGGTGGACAACACAAAGGTTACCATGAAGGAAATCTTACTGAAGGCAGTGAAGCGAAGAAAAGGATCCCAGAAAGTTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119487_MULTIEX1-8/8=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.006 A=0.106 C2=0.053
Domain overlap (PFAM):

C1:
PF054227=SIN1=PU(10.7=96.9)
A:
PF054227=SIN1=FE(12.7=100)
C2:
PF054227=SIN1=FE(12.1=100),PF054227=SIN1=PU(2.3=7.9)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000265960fB19501


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGATGTCTACCTCCCTCTGCA
R:
TCTGGGATCCTTTTCTTCGCT
Band lengths:
242-419
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development