HsaEX6063473 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130265882-130285316:+
Coord C1 exon
chr9:130265882-130266137
Coord A exon
chr9:130284603-130284673
Coord C2 exon
chr9:130285158-130285316
Length
71 bp
Sequences
Splice sites
3' ss Seq
TCCCTCTCTCTTCTCCACAGATA
3' ss Score
13.16
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
Exon sequences
Seq C1 exon
ATGCCCGGGGCGCCGCTCCTGCGGCTGCTGACCGCGGTCTCTGCGGCAGTGGCAGTGGCAGTGGCCGGGGCGCCCGGGACGGTAATGCCCCCCACCACGGGGGACGCCACCCTGGCCTTCGTCTTCGACGTCACCGGCTCCATGTGGGACGAACTGATGCAGGTGATCGATGGCGCCTCGCGCATTCTGGAACGCAGTCTGAGCCGCCGCAGCCAGGCCATCGCCAACTACGCGCTGGTGCCCTTCCACGACCCAG
Seq A exon
ATATTGGCCCAGTGACCCTCACGGCGGACCCCACAGTGTTTCAGAGGGAGCTGAGAGAACTCTACGTGCAG
Seq C2 exon
GGAGGTGGTGACTGCCCGGAGATGAGTGTGGGGGCCATTAAGGCTGCCGTGGAGGTTGCCAACCCCGGATCCTTCATCTACGTCTTTTCGGATGCCCGCGCCAAAGACTATCACAAGAAGGAAGAGCTGCTGCGGCTCCTGCAGCTCAAGCAATCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'0-1,'0-0,5-1
Average complexity
S
Mappability confidence:
78%=60=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF135191=VWA_2=PU(28.5=57.0)
A:
PF135191=VWA_2=FE(13.4=100)
C2:
PF135191=VWA_2=FE(30.2=100)
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:
GCATTCTGGAACGCAGTCTGA
R:
GGGCATCCGAAAAGACGTAGA
Band lengths:
172-243
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains