HsaEX6063475 @ hg19
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:21293]
Coordinates
chr9:133305671-133307942:+
Coord C1 exon
chr9:133305671-133305991
Coord A exon
chr9:133306754-133306873
Coord C2 exon
chr9:133307816-133307942
Length
120 bp
Sequences
Splice sites
3' ss Seq
CACCCCCATGCCCGGGCCAGACC
3' ss Score
3.13
5' ss Seq
AGGGTGAGC
5' ss Score
7.75
Exon sequences
Seq C1 exon
ATGTCAATGAGTGCCTGCAGCTGCCCAAGGCCTGCGCCTACCAGTGCCACAACCTCCAGGGCAGCTACCGCTGCCTGTGCCCCCCAGGCCAGACCCTCCTTCGCGACGGCAAGGCCTGCACCTCACTGGAGCGGAATGGACAAAATGTGACCACCGTCAGCCACCGAGGCCCTCTATTGCCCTGGCTGCGGCCCTGGGCCTCGATCCCCGGTACCTCCTACCACGCCTGGGTCTCTCTCCGTCCGGGTCCCATGGCCCTGAGCAGTGTGGGCCGGGCCTGGTGCCCTCCTGGTTTCATCAGGCAGAACGGAGTCTGCACAG
Seq A exon
ACCTTGACGAGTGCCGCGTGAGGAACCTGTGTCAGCACGCCTGCCGCAACACTGAGGGCAGCTACCAGTGCCTGTGCCCCGCCGGCTACCGTCTGCTCCCCAGCGGGAAGAACTGCCAGG
Seq C2 exon
ACATCAACGAGTGCGAGGAGGAGAGCATCGAGTGTGGACCCGGCCAGATGTGCTTCAACACCCGTGGCAGCTACCAGTGTGTGGACACACCCTGTCCTGCCACCTACCGGCAGGGCCCCAGCCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'58-59,'58-58,59-59=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.009 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=37.0)
A:
PF126622=cEGF=PD(15.8=7.3),PF126622=cEGF=PU(83.3=48.8)
C2:
PF126622=cEGF=PD(12.5=7.0)
Main Skipping Isoform:
NA
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:
TGGACAAAATGTGACCACCGT
R:
ACGGGTGTTGAAGCACATCTG
Band lengths:
250-370
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)