HsaINT0132641 @ hg38
Intron Retention
Gene
ENSG00000196504 | PRPF40A
Description
pre-mRNA processing factor 40 homolog A [Source:HGNC Symbol;Acc:HGNC:16463]
Coordinates
chr2:152679056-152679472:-
Coord C1 exon
chr2:152679352-152679472
Coord A exon
chr2:152679110-152679351
Coord C2 exon
chr2:152679056-152679109
Length
242 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
3' ss Seq
TTTGATTCCACTGAAACTAGGAT
3' ss Score
3.84
Exon sequences
Seq C1 exon
CAACTCTTATCTAAATGCCCCTGGAAGGAATACAAATCAGATTCTGGAAAGCCTTACTATTATAATTCTCAAACAAAAGAATCTCGCTGGGCCAAACCTAAAGAACTTGAGGATCTTGAAG
Seq A exon
GTAAAATGGGGAAAAGTAGTTTTCAATGTATATGTTTTACATATATATGCCATTCACTTTGAAACAATTCCTCCAGAATAGGATTGTTCAAACAAAGGCCTTATTTTTTTTTTTAATTAAATGATTAGAACATTTAAAATGGCGTATAACAGTTTTTTGGGCTCTTATTTTCTTGTTGCTTTAGATCTCAGTTCTGTAGATTTTAAATAGATTTTTATTTGATTTGATTCCACTGAAACTAG
Seq C2 exon
GATACCAGAATACCATTGTTGCTGGAAGTCTTATTACAAAATCAAACCTGCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504:ENST00000410080:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.524 A=NA C2=0.117
Domain overlap (PFAM):
C1:
PF0039721=WW=WD(100=73.2)
A:
NA
C2:
NO
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:
CAACTCTTATCTAAATGCCCCTGGA
R:
TGCAGGTTTGATTTTGTAATAAGACT
Band lengths:
173-415
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