Special

HsaEX6063047 @ hg19

Exon Skipping

Gene
ENSG00000119487 | MAPKAP1
Description
mitogen-activated protein kinase associated protein 1 [Source:HGNC Symbol;Acc:18752]
Coordinates
chr9:128347834-128420078:-
Coord C1 exon
chr9:128419930-128420078
Coord A exon
chr9:128362114-128362206
Coord C2 exon
chr9:128347834-128348006
Length
93 bp
Sequences
Splice sites
3' ss Seq
AGATTTACATTTGCGGACAGGCG
3' ss Score
3.31
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
CCCAGGAGTTAAAGTCACTGTTTGAAAAAAAATCTCTCAAAGAGAAGCCTCCAATTTCTGGGAAGCAGTCGATATTATCTGTACGCCTAGAACAGTGCCCTCTGCAGCTGAATAACCCTTTTAACGAGTATTCCAAATTTGATGGCAAG
Seq A exon
GCGCGGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCAAGGCAGCCGGATCACCTGAGGTCAGGAGTTCAAGCAGCCACGTCACCTGAG
Seq C2 exon
GGTCATGTAGGTACAACAGCAACCAAGAAGATCGATGTCTACCTCCCTCTGCACTCGAGCCAGGACAGACTGCTGCCAATGACCGTGGTGACAATGGCCAGCGCCAGGGTGCAGGACCTGATCGGGCTCATCTGCTGGCAGTATACAAGCGAAGGACGGGAGCCGAAGCTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119487-'11-16,'11-14,16-16=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.137 A=0.645 C2=0.007
Domain overlap (PFAM):

C1:
PF054227=SIN1=PU(45.2=95.0)
A:
NA
C2:
PF054227=SIN1=FE(58.2=100),PF0220413=VPS9=FE(52.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTACGCCTAGAACAGTGCC
R:
GCCATTGTCACCACGGTCATT
Band lengths:
169-262
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains