HsaEX6064020 @ hg38
Exon Skipping
Gene
ENSG00000165688 | PMPCA
Description
peptidase, mitochondrial processing alpha subunit [Source:HGNC Symbol;Acc:HGNC:18667]
Coordinates
chr9:136414553-136417214:+
Coord C1 exon
chr9:136414553-136414647
Coord A exon
chr9:136416291-136416391
Coord C2 exon
chr9:136416951-136417214
Length
101 bp
Sequences
Splice sites
3' ss Seq
GCCTTTGGGTTCTCTTGCAGATG
3' ss Score
11.71
5' ss Seq
GAAGTAAAA
5' ss Score
0.12
Exon sequences
Seq C1 exon
AGACACCACCATGTATGCTGTGTCTGCTGATAGCAAAGGCTTGGACACGGTGGTTGCCTTACTGGCTGATGTGGTTCTGCAGCCCCGGCTAACAG
Seq A exon
ATGAAGAAGTCGAGATGACGCGGATGGCGGTCCAGTTTGAGCTGGAGGACCTGAACCTGCGGCCTGACCCAGAGCCACTTCTCACCGAGATGATTCATGAA
Seq C2 exon
GCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165688-'10-13,'10-10,13-13
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=0.020 C2=0.000
Domain overlap (PFAM):
C1:
PF0067515=Peptidase_M16=FE(21.2=100)
A:
PF0067515=Peptidase_M16=FE(21.9=100)
C2:
PF0067515=Peptidase_M16=PD(25.9=17.0),PF0519316=Peptidase_M16_C=PU(33.5=76.1)
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:
CTGATGTGGTTCTGCAGCCC
R:
GTCAATATCCACGGCCTCTGC
Band lengths:
258-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains