HsaEX6063465 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130302857-130305002:+
Coord C1 exon
chr9:130302857-130303001
Coord A exon
chr9:130303487-130303608
Coord C2 exon
chr9:130304730-130305002
Length
122 bp
Sequences
Splice sites
3' ss Seq
CCACTGTTCCCTGTTTGCAGGGA
3' ss Score
10.38
5' ss Seq
CAGGTCTGT
5' ss Score
6.84
Exon sequences
Seq C1 exon
GCGCTCCCCTCGTCAGCATGGCCCCCAGGATCCATGGCTACCTGCACCAGCCCCTGCTGGTCTCCTGCTCGGTGCACAGTGCCCTTCCCTTCCGGCTGCAGCTGCGGCGAGGTGAAGCCAGGCTGGGCGAAGAGAGGCACTTTCA
Seq A exon
GGAGTCGGGAAACAGCAGCTGGGAGATCCTGCGGGCCTCCAAGGCCGAGGAGGGCACGTACGAGTGCACAGCCGTCAGCAGGGCTGGGACCGGGCGAGCAAAGGCCCAGATTGTTGTCACAG
Seq C2 exon
ACCCCCCGCCGCAGCTGGTCCCTGCTCCCAACGTGACCGTGTCCCCAGGGGAGACTGCCGTCCTATCCTGCCGGGTCCTAGGCGAGGCCCCCTACAACCTGACGTGGGTCCGGGACTGGCGAGTCCTGCCGGCCTCGACGGGCCGAGTTGCCCAGCTGGCTGACCTGTCCCTGGAGATCAGTGGCATCATCCCCACAGACGGCGGGAGGTACCAGTGTGTGGCCAGCAATGCCAATGGGGTCACAAGGGCATCCGTCTGGCTCCTGGTGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'13-11,'13-10,14-11=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=0.143 A=0.190 C2=0.076
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0767911=I-set=WD(100=93.5)
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:
GGGCGAAGAGAGGCACTTTC
R:
ATTGCTGGCCACACACTGGTA
Band lengths:
251-373
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains