HsaINT0132629 @ hg38
Intron Retention
Gene
ENSG00000196504 | PRPF40A
Description
pre-mRNA processing factor 40 homolog A [Source:HGNC Symbol;Acc:HGNC:16463]
Coordinates
chr2:152663035-152663771:-
Coord C1 exon
chr2:152663655-152663771
Coord A exon
chr2:152663173-152663654
Coord C2 exon
chr2:152663035-152663172
Length
482 bp
Sequences
Splice sites
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
3' ss Seq
AAATATGATTTTCTTAATAGTTA
3' ss Score
4.68
Exon sequences
Seq C1 exon
GATAAAGGATTTGTAGTTGAAGTAAACACTACTTTTGAAGATTTTGTGGCGATAATCAGTTCAACTAAAAGATCAACTACATTAGATGCTGGAAATATCAAATTGGCTTTCAATAGT
Seq A exon
GTAAGTTATGTTTTCTGTTGTAAGTAACTAGTTTAGTAGTATAGTTTTTAATTTATTCAGATAAAAGCAGCTAAGTTGCAGAGTGTTGGAATAAGGGAATATGAATAGAATTTTACAGAGTGGTAGCCAGTCTTTCAGGTAAGGTAAAACAAAAAACTTTATTTAGATGATGGATTGATATTAAACTTCCTTTGCTCAAATTAACTGGTATTATACATAAAATGGCCATTATAAATCAGGCCTTGGGCCACACATAAAGTACACTAACGATAGCTGATGAGCTTAAAAAAAAAATTGCAAAAAATCCTTATAGTGTTTTAAGAAAGTTTACAAATTTGTGTTGGGCCACATTCAAAGCGGTCCTGGGCCACAGGTTGGACAAGCTCGTTTTAAACAATGCGTGATTCCTAAATTAACAATAAATTATTTCAGCTAATAGTTATGATACTATTATAACTGATTAAATATGATTTTCTTAATAG
Seq C2 exon
TTACTAGAAAAGGCAGAAGCCCGTGAACGTGAAAGAGAAAAAGAAGAGGCTCGGAAGATGAAACGAAAAGAATCTGCATTTAAGAGTATGTTAAAACAAGCTGCTCCTCCGATAGAATTGGATGCTGTCTGGGAAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504:ENST00000410080:19
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=0.500
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0184614=FF=PU(46.2=52.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGATTTGTAGTTGAAGTAAACACT
R:
TCCCAGACAGCATCCAATTCT
Band lengths:
247-729
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