HsaEX0050372 @ hg19
Exon Skipping
Gene
ENSG00000196504 | PRPF40A
Description
PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) [Source:HGNC Symbol;Acc:16463]
Coordinates
chr2:153551056-153572640:-
Coord C1 exon
chr2:153572509-153572640
Coord A exon
chr2:153571064-153571143
Coord C2 exon
chr2:153551056-153551136
Length
80 bp
Sequences
Splice sites
3' ss Seq
AAATTAGTTTCTTTCCACAGAAA
3' ss Score
7.37
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
ATGGGGCACCCTGGCATGCATTATGCCCCAATGGGAATGCACCCTATGGGTCAGAGAGCGAATATGCCTCCTGTACCTCATGGAATGATGCCGCAGATGATGCCCCCTATGGGAGGGCCACCAATGGGACAA
Seq A exon
AAAGATAAAATAAAACAATTTGCTACTGCCAGATGCTTCTCTCTTTTCTGGGGCCTTCTGTTTCCATTGGGCCAATCAAG
Seq C2 exon
ATGCCTGGAATGATGTCGTCAGTAATGCCTGGAATGATGATGTCTCATATGTCTCAGGCTTCCATGCAGCCTGCCTTACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504_MULTIEX2-1/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.937 A=0.148 C2=0.874
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCACCCTGGCATGCATTAT
R:
TGAGACATCATCATTCCAGGCA
Band lengths:
175-255
Functional annotations
There are 1 annotated functions for this event
PMID: 31911676
This event
[CRISPR screen]. Conserved poison exon with mixed impact when depleted: HeLa Enriched at 14 days (FC=1.375, FDR=0.000), PC9 No Change at 14 days (FC=1.346, FDR=0.041), Late Xenograft Depleted (FC=0.722, FDR=0.001).
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- 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)