HsaEX0016248 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:103012413-103014594:-
Coord C1 exon
chr1:103014511-103014594
Coord A exon
chr1:103013282-103013327
Coord C2 exon
chr1:103012413-103012469
Length
46 bp
Sequences
Splice sites
3' ss Seq
ATTATAATTCAATTTTTCAGATA
3' ss Score
7.81
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
TTCCGTTATGGTGGTGATGGTTCCAAAGGACCAACCATCTCTGCTCAGGAAGCTCAGGCTCAAGCTATTCTTCAGCAGGCTCGG
Seq A exon
ATATTTAATCTCAAGGATTAAGAAGTATATTGTCAAAAATCTCATG
Seq C2 exon
ATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718_CASSETTE5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.667 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0139113=Collagen=PU(25.8=84.2)
Main Inclusion Isoform:
ENST00000358392fB1725
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGGTGATGGTTCCAAAGG
R:
CACAGGACCTGGTCTTCCA
Band lengths:
133-179
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development