HsaEX6094438 @ hg38
Exon Skipping
Gene
ENSG00000105707 | HPN
Description
hepsin [Source:HGNC Symbol;Acc:HGNC:5155]
Coordinates
chr19:35060129-35065345:+
Coord C1 exon
chr19:35060129-35060169
Coord A exon
chr19:35060347-35060512
Coord C2 exon
chr19:35065250-35065345
Length
166 bp
Sequences
Splice sites
3' ss Seq
TGCTGACCCTTGTCCCACAGACT
3' ss Score
8.28
5' ss Seq
GGAGTGAGT
5' ss Score
6.05
Exon sequences
Seq C1 exon
TGATTGCCCCAGAGGCCGTTTCTTGGCCGCCATCTGCCAAG
Seq A exon
ACTGTGGCCGCAGGAAGCTGCCCGTGGACCGCATCGTGGGAGGCCGGGACACCAGCTTGGGCCGGTGGCCGTGGCAAGTCAGCCTTCGCTATGATGGAGCACACCTCTGTGGGGGATCCCTGCTCTCCGGGGACTGGGTGCTGACAGCCGCCCACTGCTTCCCGGA
Seq C2 exon
AATACATCCAGCCTGTGTGCCTCCCAGCTGCCGGCCAGGCCCTGGTGGATGGCAAGATCTGTACCGTGACGGGCTGGGGCAACACGCAGTACTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000105707_MULTIEX2-3/4=2-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:
PF092725=Hepsin-SRCR=FE(12.7=100)
A:
PF092725=Hepsin-SRCR=PD(6.4=12.5),PF0008921=Trypsin=PU(18.5=78.6)
C2:
PF0008921=Trypsin=FE(13.4=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCAGAGGCCGTTTCTTGG
R:
CATAGTACTGCGTGTTGCCCC
Band lengths:
130-296
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains