HsaINT0128295 @ hg19
Intron Retention
Gene
ENSG00000165688 | PMPCA
Description
peptidase (mitochondrial processing) alpha [Source:HGNC Symbol;Acc:18667]
Coordinates
chr9:139310743-139311666:+
Coord C1 exon
chr9:139310743-139310843
Coord A exon
chr9:139310844-139311402
Coord C2 exon
chr9:139311403-139311666
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-PMPCA:NM_015160:6
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.115 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)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)