HsaINT0055472 @ hg38
Intron Retention
Gene
ENSG00000197561 | ELANE
Description
elastase, neutrophil expressed [Source:HGNC Symbol;Acc:HGNC:3309]
Coordinates
chr19:855564-856247:+
Coord C1 exon
chr19:855564-855794
Coord A exon
chr19:855795-855957
Coord C2 exon
chr19:855958-856247
Length
163 bp
Sequences
Splice sites
5' ss Seq
TTCGTACGT
5' ss Score
6.44
3' ss Seq
CACCTTGTCTGCCTCCACAGGGG
3' ss Score
9.93
Exon sequences
Seq C1 exon
CTCAACGGGTCGGCCACCATCAACGCCAACGTGCAGGTGGCCCAGCTGCCGGCTCAGGGACGCCGCCTGGGCAACGGGGTGCAGTGCCTGGCCATGGGCTGGGGCCTTCTGGGCAGGAACCGTGGGATCGCCAGCGTCCTGCAGGAGCTCAACGTGACGGTGGTGACGTCCCTCTGCCGTCGCAGCAACGTCTGCACTCTCGTGAGGGGCCGGCAGGCCGGCGTCTGTTTC
Seq A exon
GTACGTGCCCTGGGTGTCCCTCTGCTCCCCACCCGCTCCCAGCCCGGACTGCAGCAACAGGCACCGTGGCTAGACCCTAGGAGGGACTTCCCAACCCTGACAGGCGGCGGGCAGGTGGGCAGGGCCTCGCAGTCCAGCTTCCCCACCTTGTCTGCCTCCACAG
Seq C2 exon
GGGGACTCCGGCAGCCCCTTGGTCTGCAACGGGCTAATCCACGGAATTGCCTCCTTCGTCCGGGGAGGCTGCGCCTCAGGGCTCTACCCCGATGCCTTTGCCCCGGTGGCACAGTTTGTAAACTGGATCGACTCTATCATCCAACGCTCCGAGGACAACCCCTGTCCCCACCCCCGGGACCCGGACCCGGCCAGCAGGACCCACTGAGAAGGGCTGCCCGGGTCACCTCAGCTGCCCACACCCACACTCTCCAGCATCTGGCACAATAAACATTCTCTGTTTTGTAGAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197561:ENST00000590230:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.319 A=NA C2=0.486
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(35.7=100)
A:
NA
C2:
PF0008921=Trypsin=PD(19.7=60.9)
Main Inclusion Isoform:
NA
Other Inclusion 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:
CAACGTCTGCACTCTCGTGAG
R:
CCTTCTCAGTGGGTCCTGCT
Band lengths:
258-421
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development