HsaEX6079434 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:3091516-3106641:-
Coord C1 exon
chr8:3106528-3106641
Coord A exon
chr8:3096849-3097037
Coord C2 exon
chr8:3091516-3091662
Length
189 bp
Sequences
Splice sites
3' ss Seq
GCTGGTACTTTTCTCTCCAGCAC
3' ss Score
6.5
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
Exon sequences
Seq C1 exon
GAGATTTTGTGAAGTACCAGTGCCACCCCGGGTACACCTTGGTGGGGACCGACATTCTGACTTGCAAGCTCAGTTCCCAGTTGCAGTTTGAGGGTTCTCTCCCAACATGTGAAG
Seq A exon
CACAATGCCCAGCAAATGAAGTCCGGACTGGATCATCGGGAGTCATTCTCAGTCCAGGGTATCCGGGTAATTATTTTAACTCCCAGACTTGCTCTTGGAGTATTAAAGTGGAACCAAACTACAACATTACCATCTTTGTGGACACATTTCAAAGTGAAAAGCAGTTTGATGCACTGGAAGTGTTTGATG
Seq C2 exon
GTTCTTCTGGGCAAAGTCCTCTGCTAGTAGTCTTAAGTGGGAATCATACTGAACAATCAAATTTTACAAGCAGGAGTAATCAGTTATATCTCCGCTGGTCCACTGACCATGCCACCAGTAAGAAAGGATTCAAGATTCGCTATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'99-121,'99-119,101-121
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=PD(63.8=94.9),PF0043115=CUB=PU(23.4=38.5)
A:
PF0043115=CUB=PU(56.0=95.3)
C2:
PF0043115=CUB=PD(75.0=96.0)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGTGAAGTACCAGTGCCACC
R:
TCTTGAATCCTTTCTTACTGGTGGC
Band lengths:
243-432
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains