HsaEX6046542 @ hg38
Exon Skipping
Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33185701-33188524:-
Coord C1 exon
chr6:33188362-33188524
Coord A exon
chr6:33186627-33186818
Coord C2 exon
chr6:33185701-33185778
Length
192 bp
Sequences
Splice sites
3' ss Seq
TCTCTCTCATGTCTTTGCAGGGT
3' ss Score
11.44
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GTGGCACCGTGTGGCTGTGGCTGTGAAGGGCCAGTCTGTCACCCTCATTGTTGACTGCAAGAAGCGAGTCACCCGGCCTCTCCCCCGAAGTGCTCGTCCAGTATTGGACACCCATGGAGTGATCATCTTTGGTGCCCGTATTCTGGATGAAGAAGTCTTTGAG
Seq A exon
GGTGATGTCCAGGAGCTGGCCATTGTCCCAGGGGTCCAGGCAGCCTATGAATCATGTGAACAGAAGGAGCTGGAATGCGAGGGGGGCCAGAGGGAAAGACCCCAAAACCAACAGCCTCACAGAGCCCAGAGATCTCCACAGCAGCAACCATCAAGACTTCACAGGCCACAAAATCAGGAACCCCAGAGCCAG
Seq C2 exon
CCCACTGAGTCTCTCTACTATGACTACGAGCCCCCCTATTATGATGTGATGACTACGGGGACAACCCCTGATTATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248-'8-4,'8-3,9-4=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.091 A=0.723 C2=1.000
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=FE(43.9=100)
A:
PF0221019=Laminin_G_2=PD(7.3=14.1)
C2:
NO
Main Skipping Isoform:
NA
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:
GTGTGGCTGTGGCTGTGAAG
R:
GGTTGTCCCCGTAGTCATCAC
Band lengths:
221-413
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains