HsaEX6063466 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130299025-130303608:+
Coord C1 exon
chr9:130299025-130299288
Coord A exon
chr9:130302857-130303001
Coord C2 exon
chr9:130303487-130303608
Length
145 bp
Sequences
Splice sites
3' ss Seq
GTCCTGGTCCCCGCCTACAGGCG
3' ss Score
8.43
5' ss Seq
TCAGTGAGT
5' ss Score
7.68
Exon sequences
Seq C1 exon
GAGTCCCCATCTCCCTGGTGATCAATTCCACGGGCCTGAAGGCACCCGGCCGCCTAGACTCGGTGGAGCTGGCACAAAGCTCAGGGAAGCCCCTCCTGACTCTGCCCACGAAGCCCCTCTCCAATGGCTCCACCCATCAGCTGTGGGGCGGGCCGCCCTTCCACACCCCCAAGGAGCGCTTCTACCTCAAGGTGAAGGGCAAGGACCATGAGGGAAACCCCCTCCTTCGTGTCTCTGGAGTGTCCTACAGTGGGGTGGCCCCAG
Seq A exon
GCGCTCCCCTCGTCAGCATGGCCCCCAGGATCCATGGCTACCTGCACCAGCCCCTGCTGGTCTCCTGCTCGGTGCACAGTGCCCTTCCCTTCCGGCTGCAGCTGCGGCGAGGTGAAGCCAGGCTGGGCGAAGAGAGGCACTTTCA
Seq C2 exon
GGAGTCGGGAAACAGCAGCTGGGAGATCCTGCGGGCCTCCAAGGCCGAGGAGGGCACGTACGAGTGCACAGCCGTCAGCAGGGCTGGGACCGGGCGAGCAAAGGCCCAGATTGTTGTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.236 A=0.143 C2=0.190
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
CCTAGACTCGGTGGAGCTGG
R:
AGGATCTCCCAGCTGCTGTTT
Band lengths:
242-387
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains