HsaEX1008145 @ hg38
Exon Skipping
Gene
ENSG00000139610 | CELA1
Description
chymotrypsin like elastase family member 1 [Source:HGNC Symbol;Acc:HGNC:3308]
Coordinates
chr12:51329684-51341380:-
Coord C1 exon
chr12:51341244-51341380
Coord A exon
chr12:51339099-51339150
Coord C2 exon
chr12:51329684-51329833
Length
52 bp
Sequences
Splice sites
3' ss Seq
CAGTCCTACTTCTCTTGCAGTTC
3' ss Score
7.65
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CTATGACATCGCCCTGCTGCGCCTGGCCCAGAGCGTTACCCTCAATAGCTATGTCCAGCTGGGTGTTCTGCCCCAGGAGGGAGCCATCCTGGCTAACAACAGTCCCTGCTACATCACAGGCTGGGGCAAGACCAAGA
Seq A exon
TTCCTCTACCACCATCCCTTTACCCCAGTGATATTTCTGGCAGTATGTACAG
Seq C2 exon
GGTGACTCTGGGGGCCCCCTCCATTGCTTGGTGAATGGCAAGTATTCTGTCCATGGAGTGACCAGCTTTGTGTCCAGCCGGGGCTGTAATGTCTCCAGGAAGCCTACAGTCTTCACCCAGGTCTCTGCTTACATCTCCTGGATAAATAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139610_MULTIEX1-3/3=1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(19.7=100)
A:
NA
C2:
PF0008921=Trypsin=PD(20.2=94.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
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:
TGGCTAACAACAGTCCCTGCT
R:
TCCTGGAGACATTACAGCCCC
Band lengths:
148-200
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains