HsaINT0128291 @ hg38
Intron Retention
Gene
ENSG00000165688 | PMPCA
Description
peptidase, mitochondrial processing alpha subunit [Source:HGNC Symbol;Acc:HGNC:18667]
Coordinates
chr9:136411997-136412569:+
Coord C1 exon
chr9:136411997-136412199
Coord A exon
chr9:136412200-136412489
Coord C2 exon
chr9:136412490-136412569
Length
290 bp
Sequences
Splice sites
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
3' ss Seq
AATTTTCTTTTTACTACTAGTTC
3' ss Score
5.77
Exon sequences
Seq C1 exon
GTTTGGACCTCCTGCGTACAGACGGTTTAGTAGTGGTGGTGCCTATCCCAACATCCCCCTCTCTTCTCCCTTACCTGGAGTACCCAAGCCTGTTTTTGCTACAGTTGATGGACAGGAAAAGTTTGAAACCAAAGTAACCACATTGGATAATGGGCTTCGCGTGGCATCTCAGAATAAGTTTGGACAGTTTTGTACAGTAGGAA
Seq A exon
GTAAGTACTGTTGTGTTGTCGTGGGTGGTCCCGCAGTTTTAACATGCACATGCTTTAGTTGACTGTTAGTTGTAATTAGCATGCCAATTATGAATTGTACCCTGAGTGGAAACAAAGTGTACGATTTCATAAATGTTGAGCTACACATATACCTGTGAAACCATCAGCACAATCACCCTCATGTAATTAAATCTGATTATCATGTCATATTGACATCTTAAAATGTTTCTCTTGATTAAATCTTATTTTGAATATCTGATGTAACCTGTCAATTTTCTTTTTACTACTAG
Seq C2 exon
TTCTTATCAATTCAGGATCGAGATATGAAGCGAAATACCTTAGTGGAATTGCTCACTTTTTGGAAAAATTGGCATTTTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165688:ENST00000371717:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0067515=Peptidase_M16=PU(9.9=21.7)
A:
NA
C2:
PF0067515=Peptidase_M16=FE(17.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTTGGACCTCCTGCGTACAG
R:
CGAAAATGCCAATTTTTCCAAAAAGT
Band lengths:
283-573
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