HsaEX6063475 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130430284-130432555:+
Coord C1 exon
chr9:130430284-130430604
Coord A exon
chr9:130431367-130431486
Coord C2 exon
chr9:130432429-130432555
Length
120 bp
Sequences
Splice sites
3' ss Seq
CACCCCCATGCCCGGGCCAGACC
3' ss Score
3.13
5' ss Seq
AGGGTGAGC
5' ss Score
7.75
Exon sequences
Seq C1 exon
ATGTCAATGAGTGCCTGCAGCTGCCCAAGGCCTGCGCCTACCAGTGCCACAACCTCCAGGGCAGCTACCGCTGCCTGTGCCCCCCAGGCCAGACCCTCCTTCGCGACGGCAAGGCCTGCACCTCACTGGAGCGGAATGGACAAAATGTGACCACCGTCAGCCACCGAGGCCCTCTATTGCCCTGGCTGCGGCCCTGGGCCTCGATCCCCGGTACCTCCTACCACGCCTGGGTCTCTCTCCGTCCGGGTCCCATGGCCCTGAGCAGTGTGGGCCGGGCCTGGTGCCCTCCTGGTTTCATCAGGCAGAACGGAGTCTGCACAG
Seq A exon
ACCTTGACGAGTGCCGCGTGAGGAACCTGTGTCAGCACGCCTGCCGCAACACTGAGGGCAGCTACCAGTGCCTGTGCCCCGCCGGCTACCGTCTGCTCCCCAGCGGGAAGAACTGCCAGG
Seq C2 exon
ACATCAACGAGTGCGAGGAGGAGAGCATCGAGTGTGGACCCGGCCAGATGTGCTTCAACACCCGTGGCAGCTACCAGTGTGTGGACACACCCTGTCCTGCCACCTACCGGCAGGGCCCCAGCCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'133-138,'133-137,136-138
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.009 A=0.011 C2=0.349
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=37.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.1)
C2:
PF126622=cEGF=PD(12.5=7.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGACAAAATGTGACCACCGT
R:
ACGGGTGTTGAAGCACATCTG
Band lengths:
250-370
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains