Special

HsaINT0132641 @ hg19

Intron Retention

Gene
ENSG00000196504 | PRPF40A
Description
PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) [Source:HGNC Symbol;Acc:16463]
Coordinates
chr2:153535570-153535986:-
Coord C1 exon
chr2:153535866-153535986
Coord A exon
chr2:153535624-153535865
Coord C2 exon
chr2:153535570-153535623
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-PRPF40A:NM_017892:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.527 A=NA C2=0.120
Domain overlap (PFAM):

C1:
PF0039721=WW=WD(100=73.2)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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