HsaEX6063470 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130286188-130295772:+
Coord C1 exon
chr9:130286188-130286310
Coord A exon
chr9:130294855-130295026
Coord C2 exon
chr9:130295666-130295772
Length
172 bp
Sequences
Splice sites
3' ss Seq
CTCCTCATACTTGCCTCCAGGTG
3' ss Score
9.6
5' ss Seq
TGGGTATGG
5' ss Score
6.23
Exon sequences
Seq C1 exon
GTGGTCTTTGTGCTGACGGGGGACTGTGGCGACCGCACCCATCCTGGCTACCTGGCTTATGAGGAGATCGCTGCCACCAGCTCTGGGCAGGTGTTCCACCTGGACAAGCAGCAAGTGACAGAG
Seq A exon
GTGCTGAAGTGGGTGGAGTCAGCGATCCAGGCCTCCAAGGTGCACCTGCTGTCCACAGACCACGAGGAGGAGGGGGAGCACACATGGAGACTCCCCTTTGACCCCAGCCTGAAGGAGGTCACCATCTCATTGAGTGGGCCAGGGCCTGAGATTGAAGTCCAAGATCCGCTGG
Seq C2 exon
GGAGGATCCTGCAGGAGGACGAGGGCCTCAACGTGCTTCTCAACATCCCTGACTCGGCCAAGGTCGTAGCCTTTAAGCCTGAGCATCCGGGGCTGTGGTCCATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'7-5,'7-4,8-5=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.103 C2=0.000
Domain overlap (PFAM):
C1:
PF135191=VWA_2=FE(23.3=100)
A:
PF135191=VWA_2=PD(2.3=6.9)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
GTGGTCTTTGTGCTGACGGG
R:
CTTGATGGACCACAGCCCC
Band lengths:
230-402
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains