HsaINT0128295 @ hg38
Intron Retention
Gene
ENSG00000165688 | PMPCA
Description
peptidase, mitochondrial processing alpha subunit [Source:HGNC Symbol;Acc:HGNC:18667]
Coordinates
chr9:136416291-136417214:+
Coord C1 exon
chr9:136416291-136416391
Coord A exon
chr9:136416392-136416950
Coord C2 exon
chr9:136416951-136417214
Length
559 bp
Sequences
Splice sites
5' ss Seq
GAAGTAAAA
5' ss Score
0.12
3' ss Seq
CTGTGGCTCTTCCCCATTAGGCG
3' ss Score
7.51
Exon sequences
Seq C1 exon
ATGAAGAAGTCGAGATGACGCGGATGGCGGTCCAGTTTGAGCTGGAGGACCTGAACCTGCGGCCTGACCCAGAGCCACTTCTCACCGAGATGATTCATGAA
Seq A exon
GTAAAATGTCAAACTCGAGAATGCCCCCGCATCTCGAACAGTGGTCCTCGGGACACCAGGGGTGGTGGGGAGGGTGCCTCCGTGATGTTGTCCTTGCAGGTTATGGATATATACAGAACATTTTTTTGTTTTTTGAGATGAGGTTTCTCCACATTGCCTACGCTGGTCTTGCACTCCTGGGCTCAGCTCAGGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAG
Seq C2 exon
GCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165688:ENST00000371717:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.020 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0067515=Peptidase_M16=FE(21.9=100)
A:
NA
C2:
PF0067515=Peptidase_M16=PD(25.9=17.0),PF0519316=Peptidase_M16_C=PU(33.5=76.1)
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:
GTCGAGATGACGCGGATGG
R:
GGGCCACAGATCTGTCAATATCC
Band lengths:
334-893
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development