HsaEX0016244 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102979382-102984191:-
Coord C1 exon
chr1:102984138-102984191
Coord A exon
chr1:102979597-102979612
Coord C2 exon
chr1:102979382-102979435
Length
16 bp
Sequences
Splice sites
3' ss Seq
TGTGCTTTCAATGCTTCCAGGAT
3' ss Score
9.05
5' ss Seq
ATTGTAAGT
5' ss Score
8.54
Exon sequences
Seq C1 exon
GGAAAACTTGGAGTTCCAGGATTACCAGGATATCCAGGAAGACAAGGTCCAAAG
Seq A exon
GATTTCAGATGTCATT
Seq C2 exon
GGTTCCACTGGATTCCCTGGGTTTCCAGGTGCCAATGGAGAGAAAGGTGCACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.983 A=0.000 C2=0.900
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(22.4=100),PF0139113=Collagen=FE(23.0=100)
A:
PF0139113=Collagen=PD(5.0=50.0)
C2:
PF0139113=Collagen=PD(3.9=16.7),PF0139113=Collagen=FE(23.0=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAGTTCCAGGATTACCAGG
R:
GCACCTTTCTCTCCATTGGCA
Band lengths:
96-112
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