HsaEX6066554 @ hg38
Exon Skipping
Gene
ENSG00000139610 | CELA1
Description
chymotrypsin like elastase family member 1 [Source:HGNC Symbol;Acc:HGNC:3308]
Coordinates
chr12:51343753-51346679:-
Coord C1 exon
chr12:51346623-51346679
Coord A exon
chr12:51345795-51345877
Coord C2 exon
chr12:51343753-51343853
Length
83 bp
Sequences
Splice sites
3' ss Seq
TTTTCTTCTGCCCCACAAAGGAC
3' ss Score
6.39
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
TTGGTCCAAGCAAGAAGGCAGTGGTCTACTCCATCGGCAACATGCTGGTCCTTTATG
Seq A exon
GACACAGCACCCAGGACCTTCCGGAAACCAATGCCCGCGTAGTCGGAGGGACTGAGGCCGGGAGGAATTCCTGGCCCTCTCAG
Seq C2 exon
ATTTCCCTCCAGTACCGGTCTGGAGGTTCCCGGTATCACACCTGTGGAGGGACCCTTATCAGACAGAACTGGGTGATGACAGCTGCTCACTGCGTGGATTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139610-'1-1,'1-0,3-1=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.321 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0008921=Trypsin=PU(6.0=50.0)
C2:
PF0008921=Trypsin=FE(14.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGGTCCAAGCAAGAAGGCAG
R:
CGCAGTGAGCAGCTGTCATC
Band lengths:
151-234
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains