HsaEX1028673 @ hg38
Exon Skipping
Gene
ENSG00000165688 | PMPCA
Description
peptidase, mitochondrial processing alpha subunit [Source:HGNC Symbol;Acc:HGNC:18667]
Coordinates
chr9:136421832-136423761:+
Coord C1 exon
chr9:136421832-136421976
Coord A exon
chr9:136422789-136422831
Coord C2 exon
chr9:136423095-136423761
Length
43 bp
Sequences
Splice sites
3' ss Seq
GCTGGGGGTTTTTTCTGCAGGCC
3' ss Score
8.03
5' ss Seq
TCTGTAAGT
5' ss Score
7.96
Exon sequences
Seq C1 exon
GTGGAGCTGGAACGAGCCAAGACGCAGCTGACATCAATGCTCATGATGAACCTGGAATCCAGGCCTGTGATCTTCGAGGATGTGGGGAGGCAGGTGCTGGCCACTCGCTCCAGAAAGCTGCCGCACGAGCTGTGCACGCTCATCC
Seq A exon
GCCGTCCTAAAGTGAGTTCATCAGACACGGAGCTCGCTCTTCT
Seq C2 exon
GCAACGTGAAGCCGGAAGATGTGAAGAGAGTCGCTTCTAAGATGCTCCGAGGGAAGCCGGCAGTGGCCGCCCTGGGTGACCTGACTGACCTGCCCACGTATGAGCACATCCAGACCGCCCTGTCGAGTAAGGACGGGCGCCTGCCCAGGACGTACCGGCTCTTCCGGTAGAACCGCTCCCCGGCCTGACAGACCCAGGGAGCTGCAGCTGGAGCCCGTTCCCGTGCGTGTTAGTTTGGACACGAATTTAGTCTAAAAAGCTGTCTGGTTGTATAAACGGTGCAAACAATGTCGCCACAGCACCCACGCGGTTTGCATTCTTTTGGAACTCAATGTGCCGATCAGTGGAGTCAGTATCGAGCCTGACCACCGCAAGCCAGGAAGCAGGTGAAGTGCCCAGCGCTGGAGTGCAGCGTGCCACGAGGAGGGCGGTCGGTGCTTCCCTCCTCGGGCTGTGGGCACATGGGGCCCCGCAGGTTCCTTGGAGGAGCCCTGAGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165688_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.053 A=0.000 C2=0.015
Domain overlap (PFAM):
C1:
PF0519316=Peptidase_M16_C=PD(4.5=18.4)
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000371717fB22926
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
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:
ATCCAGGCCTGTGATCTTCGA
R:
CCTCGGAGCATCTTAGAAGCG
Band lengths:
141-184
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains