HsaINT0128296 @ hg19
Intron Retention
Gene
ENSG00000165688 | PMPCA
Description
peptidase (mitochondrial processing) alpha [Source:HGNC Symbol;Acc:18667]
Coordinates
chr9:139311403-139312561:+
Coord C1 exon
chr9:139311403-139311666
Coord A exon
chr9:139311667-139312468
Coord C2 exon
chr9:139312469-139312561
Length
802 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAAG
5' ss Score
5.73
3' ss Seq
GCTTGTTTTCTTGGTTACAGCTA
3' ss Score
7.49
Exon sequences
Seq C1 exon
GCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAG
Seq A exon
GTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAG
Seq C2 exon
CTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165688-PMPCA:NM_015160:7
Average complexity
IR-S
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=PD(25.9=17.0),PF0519316=Peptidase_M16_C=PU(33.5=76.1)
A:
NA
C2:
PF0519316=Peptidase_M16_C=PU(20.3=83.9)
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:
CGGCTTACAGGGAGAACACAG
R:
AGCTCTCCAGTCCAACCATGA
Band lengths:
345-1147
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
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)