HsaEX6091394 @ hg38
Exon Skipping
Gene
ENSG00000197561 | ELANE
Description
elastase, neutrophil expressed [Source:HGNC Symbol;Acc:HGNC:3309]
Coordinates
chr19:853262-856247:+
Coord C1 exon
chr19:853262-853403
Coord A exon
chr19:855564-855794
Coord C2 exon
chr19:855958-856247
Length
231 bp
Sequences
Splice sites
3' ss Seq
ATCTGTCCCCACCGCCACAGCTC
3' ss Score
6.15
5' ss Seq
TTCGTACGT
5' ss Score
6.44
Exon sequences
Seq C1 exon
AAACGTCCGCGCGGTGCGGGTGGTCCTGGGAGCCCATAACCTCTCGCGGCGGGAGCCCACCCGGCAGGTGTTCGCCGTGCAGCGCATCTTCGAAAACGGCTACGACCCCGTAAACTTGCTCAACGACATCGTGATTCTCCAG
Seq A exon
CTCAACGGGTCGGCCACCATCAACGCCAACGTGCAGGTGGCCCAGCTGCCGGCTCAGGGACGCCGCCTGGGCAACGGGGTGCAGTGCCTGGCCATGGGCTGGGGCCTTCTGGGCAGGAACCGTGGGATCGCCAGCGTCCTGCAGGAGCTCAACGTGACGGTGGTGACGTCCCTCTGCCGTCGCAGCAACGTCTGCACTCTCGTGAGGGGCCGGCAGGCCGGCGTCTGTTTC
Seq C2 exon
GGGGACTCCGGCAGCCCCTTGGTCTGCAACGGGCTAATCCACGGAATTGCCTCCTTCGTCCGGGGAGGCTGCGCCTCAGGGCTCTACCCCGATGCCTTTGCCCCGGTGGCACAGTTTGTAAACTGGATCGACTCTATCATCCAACGCTCCGAGGACAACCCCTGTCCCCACCCCCGGGACCCGGACCCGGCCAGCAGGACCCACTGAGAAGGGCTGCCCGGGTCACCTCAGCTGCCCACACCCACACTCTCCAGCATCTGGCACAATAAACATTCTCTGTTTTGTAGAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197561-'9-12,'9-9,14-12=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.319 C2=0.486
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(43.5=100),PF139001=GVQW=PU(5.4=4.2)
A:
PF0008921=Trypsin=FE(35.7=100)
C2:
PF0008921=Trypsin=PD(19.7=60.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
CCCCGTAAACTTGCTCAACGA
R:
AGATGCTGGAGAGTGTGGGTG
Band lengths:
296-527
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains