HsaEX0030186 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130427497-130429685:+
Coord C1 exon
chr9:130427497-130427619
Coord A exon
chr9:130428358-130428489
Coord C2 exon
chr9:130429557-130429685
Length
132 bp
Sequences
Splice sites
3' ss Seq
CTGCCCTGATCTGCCCCCAGATG
3' ss Score
10.46
5' ss Seq
AAGGTGATG
5' ss Score
5.22
Exon sequences
Seq C1 exon
ACAGGGACGAGTGCTCAGGAGGCCCTAGCCCCTGCTCCCATGCCTGCCTTAATGCACCCGGCCGCTTCTCCTGCACCTGCCCCACTGGCTTCGCCCTGGCCTGGGATGACAGGAACTGCAGAG
Seq A exon
ATGTGGACGAGTGTGCGTGGGATGCTCACCTCTGCCGAGAGGGACAGCGCTGTGTGAACCTGCTCGGGTCCTACCGCTGCCTCCCCGACTGTGGGCCTGGCTTCCGGGTGGCTGATGGGGCCGGCTGTGAAG
Seq C2 exon
ATGTGGACGAATGCCTGGAGGGGTTGGACGACTGTCACTACAACCAGCTCTGCGAGAACACCCCAGGCGGTCACCGCTGCAGCTGCCCCAGGGGTTACCGGATGCAGGGCCCCAGCCTGCCCTGCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357_MULTIEX2-2/2=1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF146701=FXa_inhibition=WD(100=85.7),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.6),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTGCTCAGGAGGCCCTAG
R:
CTAGGCAGGGCAGGCTGG
Band lengths:
244-376
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