HsaEX6063513 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130349537-130353205:+
Coord C1 exon
chr9:130349537-130349663
Coord A exon
chr9:130351423-130351577
Coord C2 exon
chr9:130352927-130353205
Length
155 bp
Sequences
Splice sites
3' ss Seq
TCCCTTGCCCGTCTCTCCAGGCC
3' ss Score
10.85
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
Exon sequences
Seq C1 exon
CCCCTCCTTCCGTGCTTGGAGCCGGGGCCGCTCAGGAGGTGCTAGGATTGGCCGGTGCAGACGTGGAGCTGCAGTGTTGGACCTCAGGGGTCCCCACGCCCCAGGTGGAGTGGACCAAGGACAGGCA
Seq A exon
GCCTGTCCTTCCGGGAGGCCCTCACCTGCAGGTCCAGGAGGATGGCCAGGTTCTCAGGATCACCGGCAGTCACGTGGGGGATGAGGGACGATACCAGTGCGTGGCCTTCAGCCCAGCTGGTCAGCAGGCCAGGGACTTCCAGCTCCGAGTTCATG
Seq C2 exon
CGCCCCCCACTATCTGGGGCTCCAACGAGACAGGCGAGGTGGCCGTCATGGAGGACCACCTAGTGCAGCTCCTGTGTGAGGCTCGAGGAGTGCCCACCCCAAACATCACCTGGTTCAAGGACGGGGCCCTGCTCCCCACCAGCACCAAGGTGGTCTACACTAGGGGCGGTCGGCAGTTGCAGCTGGGGAGGGCCCAGAGCTCCGATGCCGGCGTCTACACCTGCAAGGCCAGCAATGCTGTGGGGGCCGCAGAGAAGGCCACCAGGCTGGATGTTTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357_CASSETTE5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.163 A=0.245 C2=0.064
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(39.3=76.7)
A:
PF0767911=I-set=PD(59.5=94.3)
C2:
PF0767911=I-set=WD(100=90.4)
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:
CTAGGATTGGCCGGTGCAGA
R:
GCCCCTAGTGTAGACCACCTT
Band lengths:
253-408
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains