HsaEX6066557 @ hg38
Exon Skipping
Gene
ENSG00000139610 | CELA1
Description
chymotrypsin like elastase family member 1 [Source:HGNC Symbol;Acc:HGNC:3308]
Coordinates
chr12:51329684-51342700:-
Coord C1 exon
chr12:51342575-51342700
Coord A exon
chr12:51341244-51341380
Coord C2 exon
chr12:51329684-51329833
Length
137 bp
Sequences
Splice sites
3' ss Seq
AGTCTCCTTTTCTCCTGCAGCTA
3' ss Score
10.3
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
CCAGAAGACTTTCCGCGTGGTGGCTGGAGACCATAACCTGAGCCAGAATGATGGCACTGAGCAGTACGTGAGTGTGCAGAAGATCGTGGTGCATCCATACTGGAACAGCGATAACGTGGCTGCCGG
Seq A exon
CTATGACATCGCCCTGCTGCGCCTGGCCCAGAGCGTTACCCTCAATAGCTATGTCCAGCTGGGTGTTCTGCCCCAGGAGGGAGCCATCCTGGCTAACAACAGTCCCTGCTACATCACAGGCTGGGGCAAGACCAAGA
Seq C2 exon
GGTGACTCTGGGGGCCCCCTCCATTGCTTGGTGAATGGCAAGTATTCTGTCCATGGAGTGACCAGCTTTGTGTCCAGCCGGGGCTGTAATGTCTCCAGGAAGCCTACAGTCTTCACCCAGGTCTCTGCTTACATCTCCTGGATAAATAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139610_MULTIEX1-1/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(18.0=100)
A:
PF0008921=Trypsin=FE(19.7=100)
C2:
PF0008921=Trypsin=PD(20.2=94.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGTGGCTGGAGACCATAAC
R:
TGTAAGCAGAGACCTGGGTGA
Band lengths:
243-380
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains