HsaEX6063479 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130425009-130427375:+
Coord C1 exon
chr9:130425009-130425130
Coord A exon
chr9:130425687-130425924
Coord C2 exon
chr9:130427313-130427375
Length
238 bp
Sequences
Splice sites
3' ss Seq
CCCTCCTCTTCATCCTGCAGGAC
3' ss Score
12.42
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
Exon sequences
Seq C1 exon
GGGAGCTGCTCACGATGACCCAGGTGGCCCGGGGTCTGGATCCCGATGGCCTCCTGCTCCTCGACGTGGTGGTCAATGGCGTTGTCCCCGAGAGCCTGGCTGACGCAGATCTTCAAGTGCAG
Seq A exon
GACTTTGAGGAGCACTACGTGCAAACAGGGCCTGGCCAGCTGTTCGTGGGCTCCACACAGCGCTTCTTCCAGGGCGGCCTCCCCTCGTTCCTACGCTGCAACCACAGCATCCAGTACAACGCGGCCCGGGGCCCCCAGCCCCAGCTGGTGCAGCACCTGCGGGCCTCAGCTATCAGCTCGGCCTTTGATCCAGAGGCCGAGGCCCTGCGCTTCCAGCTCGCTACAGCCCTGCAGGCGG
Seq C2 exon
AGGAGAACGAGGTCGGCTGCCCCGAGGGCTTTGAGCTGGACTCCCAGGGAGCGTTTTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'120-127,'120-122,124-127=AN
Average complexity
A_S
Mappability confidence:
100%=100=86%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF074747=G2F=FE(21.3=100)
A:
PF074747=G2F=PD(26.1=61.2)
C2:
NO
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:
CTGCTCACGATGACCCAGGT
R:
CCACACAAAACGCTCCCTGG
Band lengths:
180-418
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains