HsaEX6070855 @ hg38
Exon Skipping
Gene
ENSG00000100453 | GZMB
Description
granzyme B [Source:HGNC Symbol;Acc:HGNC:4709]
Coordinates
chr14:24631858-24634267:-
Coord C1 exon
chr14:24634106-24634267
Coord A exon
chr14:24632915-24633062
Coord C2 exon
chr14:24631858-24632118
Length
148 bp
Sequences
Splice sites
3' ss Seq
CAGACAGACTTTTCCTTCAGGGG
3' ss Score
4.59
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
GGAACATGAAGTCACTGAGCCTGCTCCACCTCTTTCCTCTCCCAAGAGCTAAAAGAGAGCAAGGAGGAAACAACAGCAGCTCCAACCAGGGCAGCCTTCCTGAGAAGATGCAACCAATCCTGCTTCTGCTGGCCTTCCTCCTGCTGCCCAGGGCAGATGCAG
Seq A exon
GGGAGATCATCGGGGGACATGAGGCCAAGCCCCACTCCCGCCCCTACATGGCTTATCTTATGATCTGGGATCAGAAGTCTCTGAAGAGGTGCGGTGGCTTCCTGATACGAGACGACTTCGTGCTGACAGCTGCTCACTGTTGGGGAAG
Seq C2 exon
CTGGAGAGAAAGGCCAAGCGGACCAGAGCTGTGCAGCCCCTCAGGCTACCTAGCAACAAGGCCCAGGTGAAGCCAGGGCAGACATGCAGTGTGGCCGGCTGGGGGCAGACGGCCCCCCTGGGAAAACACTCACACACACTACAAGAGGTGAAGATGACAGTGCAGGAAGATCGAAAGTGCGAATCTGACTTACGCCATTATTACGACAGTACCATTGAGTTGTGCGTGGGGGACCCAGAGATTAAAAAGACTTCCTTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100453_MULTIEX1-2/3=C1-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.053 C2=0.239
Domain overlap (PFAM):
C1:
NO
A:
PF0008921=Trypsin=WD(100=96.0),PF0008921=Trypsin=PU(1.5=4.0)
C2:
PF0008921=Trypsin=PD(0.1=0.0),PF0008921=Trypsin=FE(66.9=100)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAACCAATCCTGCTTCTGCT
R:
GGCGTAAGTCAGATTCGCACT
Band lengths:
249-397
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains