HsaEX6063469 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130294855-130296794:+
Coord C1 exon
chr9:130294855-130295026
Coord A exon
chr9:130295666-130295772
Coord C2 exon
chr9:130296674-130296794
Length
107 bp
Sequences
Splice sites
3' ss Seq
AGCCCTTGGGGCTTCCACAGGGA
3' ss Score
5.74
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
Exon sequences
Seq C1 exon
GTGCTGAAGTGGGTGGAGTCAGCGATCCAGGCCTCCAAGGTGCACCTGCTGTCCACAGACCACGAGGAGGAGGGGGAGCACACATGGAGACTCCCCTTTGACCCCAGCCTGAAGGAGGTCACCATCTCATTGAGTGGGCCAGGGCCTGAGATTGAAGTCCAAGATCCGCTGG
Seq A exon
GGAGGATCCTGCAGGAGGACGAGGGCCTCAACGTGCTTCTCAACATCCCTGACTCGGCCAAGGTCGTAGCCTTTAAGCCTGAGCATCCGGGGCTGTGGTCCATCAAG
Seq C2 exon
GTCTATAGCAGTGGCCGCCATTCAGTGAGGATCACAGGCGTCAGCAACATTGACTTCCGAGCCGGCTTCTCCACTCAGCCCTTGCTGGACCTCAACCACACCCTCGAGTGGCCCTTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'8-7,'8-5,9-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.103 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF135191=VWA_2=PD(2.3=6.9)
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:
TGCTGAAGTGGGTGGAGTCAG
R:
CAAGGGCTGAGTGGAGAAGC
Band lengths:
255-362
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains