HsaINT0055471 @ hg38
Intron Retention
Gene
ENSG00000197561 | ELANE
Description
elastase, neutrophil expressed [Source:HGNC Symbol;Acc:HGNC:3309]
Coordinates
chr19:853262-855794:+
Coord C1 exon
chr19:853262-853403
Coord A exon
chr19:853404-855563
Coord C2 exon
chr19:855564-855794
Length
2160 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCCG
5' ss Score
6.46
3' ss Seq
ATCTGTCCCCACCGCCACAGCTC
3' ss Score
6.15
Exon sequences
Seq C1 exon
AAACGTCCGCGCGGTGCGGGTGGTCCTGGGAGCCCATAACCTCTCGCGGCGGGAGCCCACCCGGCAGGTGTTCGCCGTGCAGCGCATCTTCGAAAACGGCTACGACCCCGTAAACTTGCTCAACGACATCGTGATTCTCCAG
Seq A exon
GTGCCGCCGGGCGGGGCGGGGGGCGCAGGGGCGGAGGCCAGAGGCCTGGGGAGGGTGGAGGCTGCGACGGAGGGGCGCGTCGGGGCCGCTCGTGGGGACCTGGGGTGGCATCGTGGGCTGGGTGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAAAAAAAAAATTAGCCGAGTGTGGTTGTGGGTGCCTGTAATGCCAACTACTCAGGAGGCTGAGGAAGGAGAATCGCTTGAACCCCGGAGGCGGAGATTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTCTCAAAAAAAAAAAAAAAGATTCCTCCCTGGGAAGGGTTAGAGGGAGAGTTTCCTTGTCACTAAGTTTTCTCATAGCTCTCACCCAGTGCAGTGGCGCGATCGCAGCTCACTACAGCCTCCATCTCCTGGGCTCAAGCCACCCTCTCAGCTTGGAATGGGGGGTAGCTGGAACCACAGGTGCCACCACGTGGGTCCACCACGTCTGGCTAATATATATATATACACACACACATACATATATTATAAATAATAAATATATATTTTATTTAAATAAAATATATAATATTTATAATTATTTTATAATTATAATAATATTTATATAATTATAAATATCATTTATAATTATAATATTTATTATTTTATAAAATAATAAATATAAAATATATAAAAATATTTTTATAAAATAATAAAAATATATATATACACACATATATATATATTTTTTGAGACAAGTCTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGGTATTGTTAGTAGAGACGGGGTTTAACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTTTGATTGGCCCACCTCAGCCTCCCAAAATGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCAATTTTTTTTTATTATTTTTGTAGACATGGGGCTTTGCCACATTGCCCAGGCTGGTCTTGAATGCCTGGCCTCAAGTGATCCTCCTGCCTCGCCCTCCCAAAGTGCTGGGCTTACAAGCATGAGCCACCGCGCCCGGCTGTAGTTTTTTTGTTAACTGAGCACCTACTGCTTCCTGCACTCAAGCCACATCCAGGGACAACCTCCAACGCCCTGAGCCTTGGTGACGGCTCCCACTCTACAGATGGGGAAACCGAGGCTTGCCTTGGGGAGCAGAGTGTGGGGTGGGTATCCTGCCCTGCAGGATCCCAGAACCACAGTGGAACCTGAGATGGGGAAACTGAGGCCCGGAGAGGGGAGGGTCATCATCACTGCCCCGTGTGACGCGCTGACGATCTGTCCCCACCGCCACAG
Seq C2 exon
CTCAACGGGTCGGCCACCATCAACGCCAACGTGCAGGTGGCCCAGCTGCCGGCTCAGGGACGCCGCCTGGGCAACGGGGTGCAGTGCCTGGCCATGGGCTGGGGCCTTCTGGGCAGGAACCGTGGGATCGCCAGCGTCCTGCAGGAGCTCAACGTGACGGTGGTGACGTCCCTCTGCCGTCGCAGCAACGTCTGCACTCTCGTGAGGGGCCGGCAGGCCGGCGTCTGTTTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197561:ENST00000590230:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.319
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(43.5=100),PF139001=GVQW=PU(5.4=4.2)
A:
NA
C2:
PF0008921=Trypsin=FE(35.7=100)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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