Special

HsaEX1008147 @ hg38

Exon Skipping

Gene
ENSG00000142615 | CELA2A
Description
chymotrypsin like elastase family member 2A [Source:HGNC Symbol;Acc:HGNC:24609]
Coordinates
chr1:15463386-15465137:+
Coord C1 exon
chr1:15463386-15463522
Coord A exon
chr1:15464739-15464917
Coord C2 exon
chr1:15465037-15465137
Length
179 bp
Sequences
Splice sites
3' ss Seq
CCTCCTGTTTGTTTCCCCAGACA
3' ss Score
10.65
5' ss Seq
AAGGTGAAA
5' ss Score
4.51
Exon sequences
Seq C1 exon
GAACGACATTGCCCTGCTCAAACTGGCTAACCCCGTCTCCCTCACCGACAAGATCCAGCTGGCCTGCCTCCCTCCTGCCGGCACCATTCTACCCAACAACTACCCCTGCTACGTCACGGGCTGGGGAAGGCTGCAGA
Seq A exon
ACAACCCTGGGGCAGGCGCATTTCATCTGAGACAGTGAGAGTGGGGAGGCCTCCAAATGCTTGGCTTTTCGGCCCAGCTCTGTCAGTCACGGTGAAACCTTGGGCAAGCCACTTCCGAACCTCAGTTTCCTCATCTGTAAAATGGAAACACTGTTGGTGAAGACTAAAAGAGGTGAAAG
Seq C2 exon
AATCTTACTCTGTTACCCTGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGAGCTCAAGCGATTCTCCTGCCTCAGCCTCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142615-'12-10,'12-9,13-10
Average complexity
C3
Mappability confidence:
88%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=NA
Domain overlap (PFAM):

C1:
PF0008921=Trypsin=FE(19.7=100)
A:
PF0008921=Trypsin=PD(7.4=84.6)
C2:
NA


Main Inclusion Isoform:
ENST00000359621fB12009


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
AACGACATTGCCCTGCTCAAA
R:
GGAGGCTGAGGCAGGAGAATC
Band lengths:
235-414
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains