HsaEX0030185 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130427313-130428489:+
Coord C1 exon
chr9:130427313-130427375
Coord A exon
chr9:130427497-130427619
Coord C2 exon
chr9:130428358-130428489
Length
123 bp
Sequences
Splice sites
3' ss Seq
CAGACCCCTTCCTGCCCCAGACA
3' ss Score
6.58
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
AGGAGAACGAGGTCGGCTGCCCCGAGGGCTTTGAGCTGGACTCCCAGGGAGCGTTTTGTGTGG
Seq A exon
ACAGGGACGAGTGCTCAGGAGGCCCTAGCCCCTGCTCCCATGCCTGCCTTAATGCACCCGGCCGCTTCTCCTGCACCTGCCCCACTGGCTTCGCCCTGGCCTGGGATGACAGGAACTGCAGAG
Seq C2 exon
ATGTGGACGAGTGTGCGTGGGATGCTCACCTCTGCCGAGAGGGACAGCGCTGTGTGAACCTGCTCGGGTCCTACCGCTGCCTCCCCGACTGTGGGCCTGGCTTCCGGGTGGCTGATGGGGCCGGCTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357_MULTIEX2-1/2=C1-2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF146701=FXa_inhibition=WD(100=85.7),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.6),PF0764510=EGF_CA=PU(0.1=0.0)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAGAACGAGGTCGGCTG
R:
TTCACAGCCGGCCCCATC
Band lengths:
194-317
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development