HsaEX6063468 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130295666-130299288:+
Coord C1 exon
chr9:130295666-130295772
Coord A exon
chr9:130296674-130296794
Coord C2 exon
chr9:130299025-130299288
Length
121 bp
Sequences
Splice sites
3' ss Seq
GAGACCTGGGCCTGCGCTAGGTC
3' ss Score
2.24
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
GGAGGATCCTGCAGGAGGACGAGGGCCTCAACGTGCTTCTCAACATCCCTGACTCGGCCAAGGTCGTAGCCTTTAAGCCTGAGCATCCGGGGCTGTGGTCCATCAAG
Seq A exon
GTCTATAGCAGTGGCCGCCATTCAGTGAGGATCACAGGCGTCAGCAACATTGACTTCCGAGCCGGCTTCTCCACTCAGCCCTTGCTGGACCTCAACCACACCCTCGAGTGGCCCTTGCAAG
Seq C2 exon
GAGTCCCCATCTCCCTGGTGATCAATTCCACGGGCCTGAAGGCACCCGGCCGCCTAGACTCGGTGGAGCTGGCACAAAGCTCAGGGAAGCCCCTCCTGACTCTGCCCACGAAGCCCCTCTCCAATGGCTCCACCCATCAGCTGTGGGGCGGGCCGCCCTTCCACACCCCCAAGGAGCGCTTCTACCTCAAGGTGAAGGGCAAGGACCATGAGGGAAACCCCCTCCTTCGTGTCTCTGGAGTGTCCTACAGTGGGGTGGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'9-8,'9-7,10-8=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.236
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
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTTAAGCCTGAGCATCCGGG
R:
CTCATGGTCCTTGCCCTTCAC
Band lengths:
249-370
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains