HsaEX6086480 @ hg19
Exon Skipping
Gene
ENSG00000189099 | ESSPL
Description
protease, serine, 48 [Source:HGNC Symbol;Acc:24635]
Coordinates
chr4:152198325-152203565:+
Coord C1 exon
chr4:152198325-152198376
Coord A exon
chr4:152200948-152201110
Coord C2 exon
chr4:152203300-152203565
Length
163 bp
Sequences
Splice sites
3' ss Seq
CCTTTCTTCTCTTTCTCTAGTGT
3' ss Score
10.73
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
Exon sequences
Seq C1 exon
ATGGGCCCTGCTGGCTGTGCCTTCACGCTGCTCCTTCTGCTGGGGATCTCAG
Seq A exon
TGTGTGGGCAACCTGTATACTCCAGCCGCGTTGTAGGTGGCCAGGATGCTGCTGCAGGGCGCTGGCCTTGGCAGGTCAGCCTACACTTTGACCACAACTTTATCTGTGGAGGTTCCCTCGTCAGTGAGAGGTTGATACTGACAGCAGCACACTGCATACAACC
Seq C2 exon
GACCTGGACTACTTTTTCATATACTGTGTGGCTAGGATCGATTACAGTAGGTGACTCAAGGAAACGTGTGAAGTACTACGTGTCCAAAATCGTCATCCATCCCAAGTACCAAGATACAACGGCAGACGTCGCCTTGTTGAAACTGTCCTCTCAAGTCACCTTCACTTCTGCCATCCTGCCTATTTGCTTGCCCAGTGTCACAAAGCAGTTGGCAATTCCACCCTTTTGTTGGGTGACCGGATGGGGAAAAGTTAAGGAAAGTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000189099-'1-3,'1-2,3-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=PU(4.7=27.8)
A:
PF0008921=Trypsin=PU(18.7=80.0)
C2:
PF0008921=Trypsin=FE(37.9=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTTCACGCTGCTCCTTCTG
R:
TGCCAACTGCTTTGTGACACT
Band lengths:
247-410
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)