HsaEX6016052 @ hg38
Exon Skipping
Gene
ENSG00000196504 | PRPF40A
Description
pre-mRNA processing factor 40 homolog A [Source:HGNC Symbol;Acc:HGNC:16463]
Coordinates
chr2:152679352-152690978:-
Coord C1 exon
chr2:152690962-152690978
Coord A exon
chr2:152681226-152681336
Coord C2 exon
chr2:152679352-152679472
Length
111 bp
Sequences
Splice sites
3' ss Seq
TTTTAATCTTTATTCTTTAGAAA
3' ss Score
8.34
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
Exon sequences
Seq C1 exon
GTACAGCATCTGGTGCA
Seq A exon
AAATCAATGTGGACTGAACATAAATCACCTGATGGAAGGACTTACTACTACAACACTGAAACCAAACAGTCTACCTGGGAGAAACCAGATGATCTTAAAACACCTGCTGAG
Seq C2 exon
CAACTCTTATCTAAATGCCCCTGGAAGGAATACAAATCAGATTCTGGAAAGCCTTACTATTATAATTCTCAAACAAAAGAATCTCGCTGGGCCAAACCTAAAGAACTTGAGGATCTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504-'31-27,'31-24,39-27
Average complexity
S
Mappability confidence:
94%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.816 C2=0.524
Domain overlap (PFAM):
C1:
PF0039721=WW=PU(0.1=0.0)
A:
PF0039721=WW=PD(93.3=75.7)
C2:
PF0039721=WW=WD(100=73.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains