Special

HsaEX6086480 @ hg38

Exon Skipping

Gene
ENSG00000189099 | PRSS48
Description
protease, serine 48 [Source:HGNC Symbol;Acc:HGNC:24635]
Coordinates
chr4:151277171-151282413:+
Coord C1 exon
chr4:151277171-151277224
Coord A exon
chr4:151279796-151279958
Coord C2 exon
chr4:151282148-151282413
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
ACATGGGCCCTGCTGGCTGTGCCTTCACGCTGCTCCTTCTGCTGGGGATCTCAG
Seq A exon
TGTGTGGGCAACCTGTATACTCCAGCCGCGTTGTAGGTGGCCAGGATGCTGCTGCAGGGCGCTGGCCTTGGCAGGTCAGCCTACACTTTGACCACAACTTTATCTGTGGAGGTTCCCTCGTCAGTGAGAGGTTGATACTGACAGCAGCACACTGCATACAACC
Seq C2 exon
GACCTGGACTACTTTTTCATATACTGTGTGGCTAGGATCGATTACAGTAGGTGACTCAAGGAAACGTGTGAAGTACTACGTGTCCAAAATCGTCATCCATCCCAAGTACCAAGATACAACGGCAGACGTCGCCTTGTTGAAACTGTCCTCTCAAGTCACCTTCACTTCTGCCATCCTGCCTATTTGCTTGCCCAGTGTCACAAAGCAGTTGGCAATTCCACCCTTTTGTTGGGTGACCGGATGGGGAAAAGTTAAGGAAAGTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000189099-'0-1,'0-0,1-1=AN
Average complexity
A_C1
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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
([1])
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