HsaEX0030401 @ hg19
Exon Skipping
Gene
ENSG00000105707 | HPN
Description
hepsin [Source:HGNC Symbol;Acc:5155]
Coordinates
chr19:35532626-35550706:+
Coord C1 exon
chr19:35532626-35533426
Coord A exon
chr19:35540194-35540295
Coord C2 exon
chr19:35550577-35550706
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
TTCTGTCCTGCTCTTCCTTCAGACTCAGCCGTTGGACCCCAGTCCTTTCCTCCCCAGACCCAGGAGTTCCAGCCCTCAGGCCCCTCCTCCCTCATACTAGGGAGTCCTGGCCCCCAAATTCCTCCTTTCCCAAGACTTATGATTTCAGGTCCTCAGCTGTCTCCTCCCTCAAACCGGGATCCTCAGTCCCCTGCTCCACCAGGCTCAGGCATGGGGGTCCCCATCCCTGCAAATCCAGGCGTCCCCCCGCTGCTGGTCAGACACTGACCCCATCCTTGAACCCAGCCCAATCTGCGTCCGTGATCACGGCGTGCTCTGGCCAAGGCCCAGTCCCTACAGCCTGCCTGGATGGACGCCTGGGACTGGGGGCGCCAGGACTGGGCTGGGCTGGGCTCCCCCAGGCCCTGCCTCCCCGTCCATCTCCTCACAGGTCCCACCCTGGCCCAGGAGGTCAGCCAGGGAATCATTAACAAGAGGCAGTGACATGGCGCAGAAGGAGG
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=0.300 A=0.048 C2=0.000
Domain overlap (PFAM):
C1:
NO
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:
CCAATCTGCGTCCGTGATCAC
R:
GTCAAAGACCATGAGCCGAGC
Band lengths:
255-357
Functional annotations
There are 1 annotated functions for this event
PMID: 15627507
This event
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)