HsaEX0030184 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130360428-130362990:+
Coord C1 exon
chr9:130360428-130360604
Coord A exon
chr9:130362008-130362165
Coord C2 exon
chr9:130362867-130362990
Length
158 bp
Sequences
Splice sites
3' ss Seq
ATGTCACCCCTGCCCTGCAGTGC
3' ss Score
6.96
5' ss Seq
CAGGTCAGT
5' ss Score
8.94
Exon sequences
Seq C1 exon
ATGTCTCCTGGTTCAAGGGCCACCAACCTGTCTCTTCATGGATGGGAGTGACAGTATCAGTGGATGGGAGAGTTCTCCGCATTGAGCAAGCCCAGCTTTCTGATGCTGGGAGCTACCGCTGTGTGGCATCCAATGTGGCAGGTAGCACAGAGCTGCGGTATGGCCTACGGGTCAATG
Seq A exon
TGCCCCCTCGAATCACACTGCCACCCAGCCTGCCAGGCCCTGTGTTGGTCAACACCCCTGTCCGGCTGACCTGCAATGCCACCGGTGCCCCCAGCCCCACACTGATGTGGCTGAAGGATGGAAACCCTGTGTCCCCTGCAGGGACCCCTGGCCTGCAG
Seq C2 exon
GTCTTCCCTGGGGGCCGGGTCCTCACCTTGGCTAGTGCCCGGGCCTCCGACTCTGGGAGGTACTCCTGCGTGGCTGTGAGCGCGGTGGGCGAGGACCGCCAGGATGTTGTCCTGCAAGTCCACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357_MULTIEX1-2/8=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.245 C2=0.024
Domain overlap (PFAM):
C1:
PF0767911=I-set=PD(64.8=95.0)
A:
PF0767911=I-set=PU(54.9=94.3)
C2:
PF0767911=I-set=PD(42.9=92.9)
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
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTCTCCTGGTTCAAGGGCC
R:
GAGTACCTCCCAGAGTCGGAG
Band lengths:
242-400
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development