HsaEX0030401 @ hg38
Exon Skipping
Gene
ENSG00000105707 | HPN
Description
hepsin [Source:HGNC Symbol;Acc:HGNC:5155]
Coordinates
chr19:35042453-35059802:+
Coord C1 exon
chr19:35042453-35042522
Coord A exon
chr19:35049290-35049391
Coord C2 exon
chr19:35059673-35059802
Length
102 bp
Sequences
Splice sites
3' ss Seq
CAGCATGGTGTCTGTTGCAGGTG
3' ss Score
9.07
5' ss Seq
TTGGTGAGA
5' ss Score
6.29
Exon sequences
Seq C1 exon
GTCCCACCCTGGCCCAGGAGGTCAGCCAGGGAATCATTAACAAGAGGCAGTGACATGGCGCAGAAGGAGG
Seq A exon
GTGGCCGGACTGTGCCATGCTGCTCCAGACCCAAGGTGGCAGCTCTCACTGCGGGGACCCTGCTACTTCTGACAGCCATCGGGGCGGCATCCTGGGCCATTG
Seq C2 exon
TGCAGGTCAGCTCTGCGGACGCTCGGCTCATGGTCTTTGACAAGACGGAAGGGACGTGGCGGCTGCTGTGCTCCTCGCGCTCCAACGCCAGGGTAGCCGGACTCAGCTGCGAGGAGATGGGCTTCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000105707_MULTIEX1-2/4=1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.303 A=0.036 C2=0.000
Domain overlap (PFAM):
C1:
PF092725=Hepsin-SRCR=PU(4.6=50.0)
A:
NO
C2:
PF092725=Hepsin-SRCR=FE(66.2=100),PF0008921=Trypsin=PU(0.5=2.3)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGAGGTCAGCCAGGGAATC
R:
CTGAGGAAGCCCATCTCCTCG
Band lengths:
186-288
Functional annotations
There are 1 annotated functions for this event
PMID: 15627507
Both exons together encode a transmembrane domain and cause cytosolic retention when skipped. Hepsin/-TM (skipping) overexpression does not affect the growth of a human cancer cell line.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development