HsaEX6046555 @ hg38
Exon Skipping
Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33177662-33178352:-
Coord C1 exon
chr6:33178308-33178352
Coord A exon
chr6:33178132-33178185
Coord C2 exon
chr6:33177662-33177706
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCCCCTCACCGTGAATGCAGGGA
3' ss Score
5.35
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GGAGATGACGGGGAGATTGGGCCTCGAGGGCTGCCTGGAGAGTCG
Seq A exon
GGACCTCGAGGTCTCCTTGGCCCCAAAGGCCCACCTGGTATTCCTGGACCCCCT
Seq C2 exon
GGCGTCCGAGGCATGGATGGTCCCCAGGGCCCCAAAGGGAGCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(14.1=86.7),PF0139113=Collagen=FE(17.9=100),PF0139113=Collagen=PU(18.2=93.3)
A:
PF0139113=Collagen=FE(21.8=100),PF0139113=Collagen=FE(22.1=100)
C2:
PF0139113=Collagen=FE(17.9=100),PF0139113=Collagen=FE(18.2=100),PF0139113=Collagen=PU(2.6=13.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGATGACGGGGAGATTGGG
R:
CTTTGGGGCCCTGGGGAC
Band lengths:
82-136
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains