HsaEX6063480 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130422577-130425130:+
Coord C1 exon
chr9:130422577-130422726
Coord A exon
chr9:130424776-130424913
Coord C2 exon
chr9:130425009-130425130
Length
138 bp
Sequences
Splice sites
3' ss Seq
CTATGCCCTGCCCCACCCAGGGC
3' ss Score
7.31
5' ss Seq
CAGGTAAAC
5' ss Score
7.82
Exon sequences
Seq C1 exon
GGGAGCCCCAGGGGAGCTGGGGCAGCATGACTGGGGTGATAAATGGCCGGAAATTTGGCGTGGCCACACTCAACACCAGCGTGATGCAGGAGGCACACTCCGGGGTCAGCAGCATCCACAGCAGCATCCGCCATGTCCCAGCAAACGTGG
Seq A exon
GGCCTCTGATGCGGGTGCTCGTGGTCACCATCGCCCCCATCTACTGGGCCCTGGCCAGAGAGAGTGGGGAAGCCCTGAATGGCCACTCTCTGACTGGGGGCAGGTTCCGGCAGGAGTCACACGTGGAGTTTGCTACAG
Seq C2 exon
GGGAGCTGCTCACGATGACCCAGGTGGCCCGGGGTCTGGATCCCGATGGCCTCCTGCTCCTCGACGTGGTGGTCAATGGCGTTGTCCCCGAGAGCCTGGCTGACGCAGATCTTCAAGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'118-121,'118-119,119-121=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.064 C2=0.000
Domain overlap (PFAM):
C1:
PF074747=G2F=FE(26.6=100)
A:
PF074747=G2F=FE(24.5=100)
C2:
PF074747=G2F=FE(21.3=100)
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:
GACTGGGGTGATAAATGGCCG
R:
TGCACTTGAAGATCTGCGTCA
Band lengths:
243-381
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains