HsaEX6063493 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130395924-130397655:+
Coord C1 exon
chr9:130395924-130396065
Coord A exon
chr9:130396169-130396313
Coord C2 exon
chr9:130397528-130397655
Length
145 bp
Sequences
Splice sites
3' ss Seq
CCCTCTGTGCCCCTCCCCAGCGG
3' ss Score
9.79
5' ss Seq
CAGGTGGGA
5' ss Score
6.71
Exon sequences
Seq C1 exon
GAGGACGCCCACACACAATTCCCGGAGCGGGGCAGGTTCCTCCAGCTGCAGGCCCTGAGCACGGCTGACAGCGGCGACTACAGCTGCACAGCCCGCAACGCCGCAGGCAGCACTAGTGTCGCCTTCCGCGTGGAGATCCACA
Seq A exon
CGGTGCCCACCATCCGGTCAGGACCACCTGCAGTGAACGTCTCAGTGAACCAGACAGCCCTGCTGCCTTGCCAGGCCGACGGCGTGCCCGCACCCCTCGTGAGCTGGCGGAAGGACAGGGTCCCCCTGGATCCCAGGAGCCCCAG
Seq C2 exon
GTTTGAAATTCTGCCTGAGGGTTCCCTGAGAATCCAGCCAGTCCTTGCCCAGGACGCCGGCCACTACCTCTGCCTGGCATCCAACTCTGCTGGCTCCGATCGTCAAGGCCGTGACCTACGGGTCTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'96-96,'96-95,98-96=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.042 A=0.061 C2=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=PD(56.2=93.8)
A:
PF0767911=I-set=PU(52.3=93.9)
C2:
PF0767911=I-set=PD(46.6=93.2),PF0767911=I-set=PU(1.4=2.3)
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:
CCCACACACAATTCCCGGAG
R:
TAGGTCACGGCCTTGACGATC
Band lengths:
253-398
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains