HsaEX1009944 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:3091516-3097037:-
Coord C1 exon
chr8:3096849-3097037
Coord A exon
chr8:3095014-3095153
Coord C2 exon
chr8:3091516-3091662
Length
140 bp
Sequences
Splice sites
3' ss Seq
CATGTTCTTTTGTTTCACAGTAG
3' ss Score
7.99
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
CACAATGCCCAGCAAATGAAGTCCGGACTGGATCATCGGGAGTCATTCTCAGTCCAGGGTATCCGGGTAATTATTTTAACTCCCAGACTTGCTCTTGGAGTATTAAAGTGGAACCAAACTACAACATTACCATCTTTGTGGACACATTTCAAAGTGAAAAGCAGTTTGATGCACTGGAAGTGTTTGATG
Seq A exon
TAGTTGAATTGAAATATACTGGCCATGCTTTTAAGTCTCTTACTTTCAGGAGCAAATTATTTATCAATAATTTATGCACTCATGGCTTGCAATTTGATCTCCTGCAAATTTGGACAGATCATAGCCATTATAAACAACAG
Seq C2 exon
GTTCTTCTGGGCAAAGTCCTCTGCTAGTAGTCTTAAGTGGGAATCATACTGAACAATCAAATTTTACAAGCAGGAGTAATCAGTTATATCTCCGCTGGTCCACTGACCATGCCACCAGTAAGAAAGGATTCAAGATTCGCTATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'101-121,'101-120,102-121
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0043115=CUB=PU(56.0=95.3)
A:
PF0043115=CUB=PD(17.3=27.7)
C2:
PF0043115=CUB=PD(75.0=96.0)
Main Inclusion Isoform:
ENST00000520002fB13117
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
CAGTCCAGGGTATCCGGGTAA
R:
GTCAGTGGACCAGCGGAGATA
Band lengths:
247-387
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains