HsaEX6079413 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:3308312-3348161:-
Coord C1 exon
chr8:3347992-3348161
Coord A exon
chr8:3343294-3343450
Coord C2 exon
chr8:3308312-3308503
Length
157 bp
Sequences
Splice sites
3' ss Seq
ATGCTGTGAATTTTCATCAGGTA
3' ss Score
6.78
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
CCGAATGTGGAGCAAGTGTCAAAGGAAATGAAGGAACATTACTGTCTCCAAATTTTCCATCCAATTATGATAATAACCATGAGTGTATCTATAAAATAGAAACAGAAGCCGGCAAGGGCATCCACCTTAGAACACGAAGCTTCCAGCTGTTTGAAGGAGATACTCTAAAG
Seq A exon
GTATATGATGGAAAAGACAGTTCCTCACGTCCACTGGGCACGTTCACTAAAAATGAACTTCTGGGGCTGATCCTAAACAGCACATCCAATCACCTGTGGCTAGAGTTCAACACCAATGGATCTGACACCGACCAAGGTTTTCAACTCACCTATACCA
Seq C2 exon
GTTTTGATCTGGTAAAATGTGAGGATCCGGGCATCCCTAACTACGGCTATAGGATCCGTGATGAAGGCCACTTTACCGACACTGTAGTTCTGTACAGTTGCAACCCGGGGTACGCCATGCATGGCAGCAACACCCTGACCTGTTTGAGTGGAGACAGGAGAGTGTGGGACAAACCACTACCTTCGTGCATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'57-75,'57-73,58-75=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.018 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0043115=CUB=PU(50.9=93.1)
A:
PF0043115=CUB=PD(48.1=96.2)
C2:
PF0008415=Sushi=WD(100=87.7)
Main Skipping Isoform:
NA
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:
TAGAAACAGAAGCCGGCAAGG
R:
TGGTTTGTCCCACACTCTCCT
Band lengths:
250-407
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains