HsaEX0050370 @ hg38
Exon Skipping
Gene
ENSG00000196504 | PRPF40A
Description
pre-mRNA processing factor 40 homolog A [Source:HGNC Symbol;Acc:HGNC:16463]
Coordinates
chr2:152677451-152679472:-
Coord C1 exon
chr2:152679352-152679472
Coord A exon
chr2:152679056-152679109
Coord C2 exon
chr2:152677451-152677475
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTGATTCCACTGAAACTAGGAT
3' ss Score
3.84
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
Exon sequences
Seq C1 exon
CAACTCTTATCTAAATGCCCCTGGAAGGAATACAAATCAGATTCTGGAAAGCCTTACTATTATAATTCTCAAACAAAAGAATCTCGCTGGGCCAAACCTAAAGAACTTGAGGATCTTGAAG
Seq A exon
GATACCAGAATACCATTGTTGCTGGAAGTCTTATTACAAAATCAAACCTGCATG
Seq C2 exon
CAATGATCAAAGCTGAAGAAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504-'42-31,'42-29,44-31
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.524 A=0.117 C2=1.000
Domain overlap (PFAM):
C1:
PF0039721=WW=WD(100=73.2)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCCCCTGGAAGGAATACAA
R:
CTGCTTTCTTCAGCTTTGATCA
Band lengths:
132-186
Functional annotations
There are 0 annotated functions for this event
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