HsaEX0048661 @ hg38
Exon Skipping
Gene
ENSG00000165688 | PMPCA
Description
peptidase, mitochondrial processing alpha subunit [Source:HGNC Symbol;Acc:HGNC:18667]
Coordinates
chr9:136412490-136416391:+
Coord C1 exon
chr9:136412490-136412569
Coord A exon
chr9:136412810-136412892
Coord C2 exon
chr9:136416291-136416391
Length
83 bp
Sequences
Splice sites
3' ss Seq
TCCTTATTTATTTTTACTAGTCT
3' ss Score
6.21
5' ss Seq
AAGGTACAC
5' ss Score
7.56
Exon sequences
Seq C1 exon
TTCTTATCAATTCAGGATCGAGATATGAAGCGAAATACCTTAGTGGAATTGCTCACTTTTTGGAAAAATTGGCATTTTCG
Seq A exon
TCTACTGCTCGATTTGACAGCAAAGATGAAATTCTGCTTACGTTGGAAAAGCATGGGGGTATCTGTGACTGCCAGACATCAAG
Seq C2 exon
ATGAAGAAGTCGAGATGACGCGGATGGCGGTCCAGTTTGAGCTGGAGGACCTGAACCTGCGGCCTGACCCAGAGCCACTTCTCACCGAGATGATTCATGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165688_MULTIEX1-1/2=C1-C2
Average complexity
C2
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=0.020
Domain overlap (PFAM):
C1:
PF0067515=Peptidase_M16=FE(17.2=100)
A:
PF0067515=Peptidase_M16=PU(13.8=27.6)
C2:
PF0067515=Peptidase_M16=FE(21.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAATTCAGGATCGAGATATGAAGCG
R:
TCATCTCGGTGAGAAGTGGCT
Band lengths:
167-250
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