HsaEX6070854 @ hg19
Exon Skipping
Gene
ENSG00000100450 | GZMH
Description
granzyme H (cathepsin G-like 2, protein h-CCPX) [Source:HGNC Symbol;Acc:4710]
Coordinates
chr14:25076818-25078864:-
Coord C1 exon
chr14:25078765-25078864
Coord A exon
chr14:25077471-25077618
Coord C2 exon
chr14:25076818-25076953
Length
148 bp
Sequences
Splice sites
3' ss Seq
CTTCCAGTCTTTCCTTTCAGAGG
3' ss Score
9.43
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GGAGTCAACACCAACAGCTCTGACCTGGGCAGCCTTCCTGAGAAAATGCAGCCATTCCTCCTCCTGTTGGCCTTTCTTCTGACCCCTGGGGCTGGGACAG
Seq A exon
AGGAGATCATCGGGGGCCATGAGGCCAAGCCCCACTCCCGCCCCTACATGGCCTTTGTTCAGTTTCTGCAAGAGAAGAGTCGGAAGAGGTGTGGCGGCATCCTAGTGAGAAAGGACTTTGTGCTGACAGCTGCTCACTGCCAGGGAAG
Seq C2 exon
CTCCATAAATGTCACCTTGGGGGCCCACAATATCAAGGAACAGGAGCGGACCCAGCAGTTTATCCCTGTGAAAAGACCCATCCCCCATCCAGCCTATAATCCTAAGAACTTCTCCAACGACATCATGCTACTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100450-'0-1,'0-0,1-1=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.111 C2=0.130
Domain overlap (PFAM):
C1:
NO
A:
PF0008921=Trypsin=PU(21.5=94.0)
C2:
PF0008921=Trypsin=FE(20.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
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:
GGAGTCAACACCAACAGCTCT
R:
GCAGTAGCATGATGTCGTTGGA
Band lengths:
234-382
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)