HsaEX1016448 @ hg38
Exon Skipping
Gene
ENSG00000100450 | GZMH
Description
granzyme H [Source:HGNC Symbol;Acc:HGNC:4710]
Coordinates
chr14:24607149-24608412:-
Coord C1 exon
chr14:24608265-24608412
Coord A exon
chr14:24607612-24607747
Coord C2 exon
chr14:24607149-24607406
Length
136 bp
Sequences
Splice sites
3' ss Seq
TCACTCTGCTCTCTGTGCAGCTC
3' ss Score
10.6
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
AGGAGATCATCGGGGGCCATGAGGCCAAGCCCCACTCCCGCCCCTACATGGCCTTTGTTCAGTTTCTGCAAGAGAAGAGTCGGAAGAGGTGTGGCGGCATCCTAGTGAGAAAGGACTTTGTGCTGACAGCTGCTCACTGCCAGGGAAG
Seq A exon
CTCCATAAATGTCACCTTGGGGGCCCACAATATCAAGGAACAGGAGCGGACCCAGCAGTTTATCCCTGTGAAAAGACCCATCCCCCATCCAGCCTATAATCCTAAGAACTTCTCCAACGACATCATGCTACTGCAG
Seq C2 exon
CTGGAGAGAAAGGCCAAGTGGACCACAGCTGTGCGGCCTCTCAGGCTACCTAGCAGCAAGGCCCAGGTGAAGCCAGGGCAGCTGTGCAGTGTGGCTGGCTGGGGTTATGTCTCAATGAGCACTTTAGCAACCACACTGCAGGAAGTGTTGCTGACAGTGCAGAAGGACTGCCAGTGTGAACGTCTCTTCCATGGCAATTACAGCAGAGCCACTGAGATTTGTGTGGGGGATCCAAAGAAGACACAGACCGGTTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100450-'1-3,'1-2,3-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.111 A=0.130 C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=PU(21.5=94.0)
A:
PF0008921=Trypsin=FE(20.5=100)
C2:
PF0008921=Trypsin=FE(38.8=100)
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGACTTTGTGCTGACAGCTG
R:
AGTGGCTCTGCTGTAATTGCC
Band lengths:
250-386
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains