Special

HsaEX6063049 @ hg38

Exon Skipping

Gene
ENSG00000119487 | MAPKAP1
Description
mitogen-activated protein kinase associated protein 1 [Source:HGNC Symbol;Acc:HGNC:18752]
Coordinates
chr9:125444501-125484583:-
Coord C1 exon
chr9:125484443-125484583
Coord A exon
chr9:125467972-125468109
Coord C2 exon
chr9:125444501-125444598
Length
138 bp
Sequences
Splice sites
3' ss Seq
GTCCTCACCTTGGCTTACAGGTA
3' ss Score
8.23
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
GTTCAAGGGCAGACGGGGTTTTTGAGGAGGATTCGCAAATTGACATAGCCACAGTACAGGATATGCTTAGCAGCCACCATTACAAGTCATTCAAAGTCAGCATGATCCACAGACTGCGATTCACAACCGACGTACAGCTAG
Seq A exon
GTATCTCTGGAGACAAAGTAGAGATAGACCCTGTTACGAATCAGAAAGCCAGCACTAAGTTTTGGATTAAGCAGAAACCCATCTCAATCGATTCCGACCTGCTCTGTGCCTGTGACCTTGCTGAAGAGAAAAGCCCCA
Seq C2 exon
GTCACGCAATATTTAAACTCACGTATCTAAGCAATCACGACTATAAACACCTCTACTTTGAATCGGACGCTGCTACCGTCAATGAAATTGTGCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119487_MULTIEX2-5/7=2-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.020 A=0.007 C2=0.000
Domain overlap (PFAM):

C1:
PF054227=SIN1=PD(1.3=8.3),PF054227=SIN1=FE(36.4=100)
A:
PF054227=SIN1=PD(0.1=0.0),PF054227=SIN1=FE(56.8=100)
C2:
PF054227=SIN1=FE(24.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGGGCAGACGGGGTTTTT
R:
TGAGCACAATTTCATTGACGGT
Band lengths:
234-372
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains