HsaEX6063464 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130303487-130306270:+
Coord C1 exon
chr9:130303487-130303608
Coord A exon
chr9:130304730-130305002
Coord C2 exon
chr9:130306129-130306270
Length
273 bp
Sequences
Splice sites
3' ss Seq
CTGTGCTCATGTCCCTGCAGACC
3' ss Score
11.67
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
GGAGTCGGGAAACAGCAGCTGGGAGATCCTGCGGGCCTCCAAGGCCGAGGAGGGCACGTACGAGTGCACAGCCGTCAGCAGGGCTGGGACCGGGCGAGCAAAGGCCCAGATTGTTGTCACAG
Seq A exon
ACCCCCCGCCGCAGCTGGTCCCTGCTCCCAACGTGACCGTGTCCCCAGGGGAGACTGCCGTCCTATCCTGCCGGGTCCTAGGCGAGGCCCCCTACAACCTGACGTGGGTCCGGGACTGGCGAGTCCTGCCGGCCTCGACGGGCCGAGTTGCCCAGCTGGCTGACCTGTCCCTGGAGATCAGTGGCATCATCCCCACAGACGGCGGGAGGTACCAGTGTGTGGCCAGCAATGCCAATGGGGTCACAAGGGCATCCGTCTGGCTCCTGGTGCGAG
Seq C2 exon
AGGCCCCACAGGTCAGCATCCACACCAGCTCCCAGCACTTCTCCCAAGGTGTGGAGGTGAAGGTCAGCTGCTCAGCCTCTGGATACCCCACACCCCACATCTCCTGGAGCCGTGAGAGCCAAGCCCTACAAGAGGACAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'14-12,'14-11,16-12=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.190 A=0.076 C2=0.083
Domain overlap (PFAM):
C1:
NO
A:
PF0767911=I-set=WD(100=93.5)
C2:
PF0767911=I-set=PU(52.3=93.8)
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:
GAGTCGGGAAACAGCAGCTG
R:
TCTTGTAGGGCTTGGCTCTCA
Band lengths:
254-527
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains