HsaEX0016270 @ hg38
Exon Skipping
Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33184992-33186818:-
Coord C1 exon
chr6:33186627-33186818
Coord A exon
chr6:33185701-33185778
Coord C2 exon
chr6:33184992-33185054
Length
78 bp
Sequences
Splice sites
3' ss Seq
TGCCCACCCCCCAATCCCAGCCC
3' ss Score
5.44
5' ss Seq
CAGGTAAAC
5' ss Score
7.82
Exon sequences
Seq C1 exon
GGTGATGTCCAGGAGCTGGCCATTGTCCCAGGGGTCCAGGCAGCCTATGAATCATGTGAACAGAAGGAGCTGGAATGCGAGGGGGGCCAGAGGGAAAGACCCCAAAACCAACAGCCTCACAGAGCCCAGAGATCTCCACAGCAGCAACCATCAAGACTTCACAGGCCACAAAATCAGGAACCCCAGAGCCAG
Seq A exon
CCCACTGAGTCTCTCTACTATGACTACGAGCCCCCCTATTATGATGTGATGACTACGGGGACAACCCCTGATTATCAG
Seq C2 exon
GACCCCACCCCAGGTGAAGAGGAAGAAATCCTGGAGTCGAGCCTCTTGCCACCCCTTGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248_MULTIEX1-1/4=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.723 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=PD(7.3=14.1)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACAGAAGGAGCTGGAATGCG
R:
CAAGAGGCTCGACTCCAGGAT
Band lengths:
182-260
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