HsaEX6046573 @ hg38
Exon Skipping
Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33165549-33166566:-
Coord C1 exon
chr6:33166513-33166566
Coord A exon
chr6:33166171-33166206
Coord C2 exon
chr6:33165549-33165816
Length
36 bp
Sequences
Splice sites
3' ss Seq
TCTTGTTCCTCATTTCACAGGGA
3' ss Score
9.98
5' ss Seq
ACAGTGAGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
GGTATCCCAGGAGCATCCGGCCCCATTGGTCCTGGAGGTCCCCCCGGCCTCCCC
Seq A exon
GGACCTGCTGGCCCCAAAGGAGCCAAAGGAGCCACA
Seq C2 exon
GGTCCCCCAGGCGAGGTGATCCAGCCACTGCCCATTCAGATGCCCAAGAAGACTCGGCGCTCGGTGGATGGAAGCCGTCTGATGCAGGAAGATGAGGCCATACCGACCGGGGGAGCCCCCGGCAGTCCTGGGGGGCTGGAGGAGATCTTTGGCTCACTCGACTCCCTGCGGGAGGAGATCGAGCAGATGAGGCGGCCAACAGGGACCCAGGACAGCCCTGCTCGCACCTGCCAGGACCTGAAGCTGTGCCACCCAGAGCTTCCCGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248_MULTIEX2-36/37=35-C2
Average complexity
C2
Mappability confidence:
98%=98=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=0.933
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(15.8=66.7),PF0139113=Collagen=FE(28.3=100)
A:
PF0139113=Collagen=FE(17.5=100)
C2:
PF0139113=Collagen=PD(12.7=8.9),PF0141013=COLFI=PU(41.5=30.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATTGGTCCTGGAGGTCCCC
R:
CATCAGACGGCTTCCATCCAC
Band lengths:
115-151
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains