HsaEX1009287 @ hg38
Exon Skipping
Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33181111-33184293:-
Coord C1 exon
chr6:33184145-33184293
Coord A exon
chr6:33183634-33183698
Coord C2 exon
chr6:33181111-33181170
Length
65 bp
Sequences
Splice sites
3' ss Seq
CACCTTTTTTTAACCTACAGGCC
3' ss Score
10.07
5' ss Seq
CAGGTTGGA
5' ss Score
5.59
Exon sequences
Seq C1 exon
CCGACAGGTTCCAGGCAGAGGAATATGGGGAGGGTGGCACAGACCCCCCTGAAGGGCCCTACGATTACACCTATGGCTATGGGGATGATTATCGTGAGGAGACAGAGCTTGGCCCTGCCCTCTCTGCGGAGACAGCCCACTCAGGAGCC
Seq A exon
GCCACTTATTATCTGTCCCTTCCTGCCTTCTCCAGCTGTGGCATCCATCTTGGTAACTGTGTCAG
Seq C2 exon
GCTGCCCATGGACCCCGAGGGCTGAAGGGAGAGAAAGGAGAGCCTGCAGTGTTGGAACCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248_MULTIEX1-4/4=3-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.988 A=0.000 C2=0.977
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000341947fB12708
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGGCAGAGGAATATGGGGA
R:
TCCTTTCTCTCCCTTCAGCCC
Band lengths:
178-243
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains