HsaEX0048662 @ hg19
Exon Skipping
Gene
ENSG00000165688 | PMPCA
Description
peptidase (mitochondrial processing) alpha [Source:HGNC Symbol;Acc:18667]
Coordinates
chr9:139307262-139310843:+
Coord C1 exon
chr9:139307262-139307344
Coord A exon
chr9:139309005-139309099
Coord C2 exon
chr9:139310743-139310843
Length
95 bp
Sequences
Splice sites
3' ss Seq
GGGCTTGTGTTTTCTTCCAGAGA
3' ss Score
8.41
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
Exon sequences
Seq C1 exon
TCTACTGCTCGATTTGACAGCAAAGATGAAATTCTGCTTACGTTGGAAAAGCATGGGGGTATCTGTGACTGCCAGACATCAAG
Seq A exon
AGACACCACCATGTATGCTGTGTCTGCTGATAGCAAAGGCTTGGACACGGTGGTTGCCTTACTGGCTGATGTGGTTCTGCAGCCCCGGCTAACAG
Seq C2 exon
ATGAAGAAGTCGAGATGACGCGGATGGCGGTCCAGTTTGAGCTGGAGGACCTGAACCTGCGGCCTGACCCAGAGCCACTTCTCACCGAGATGATTCATGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165688_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.115
Domain overlap (PFAM):
C1:
PF0067515=Peptidase_M16=FE(38.6=100),PF109053=DUF2695=PD(83.3=89.3)
A:
PF0067515=Peptidase_M16=FE(21.2=100)
C2:
PF0067515=Peptidase_M16=FE(21.9=100)


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGCTCGATTTGACAGCAAAGA
R:
TCATCTCGGTGAGAAGTGGCT
Band lengths:
173-268
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)