HsaEX6032433 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102978708-102979104:-
Coord C1 exon
chr1:102979060-102979104
Coord A exon
chr1:102978860-102978913
Coord C2 exon
chr1:102978708-102978752
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCTTTTGTTCTCATCTGCAGGGT
3' ss Score
11.97
5' ss Seq
AAGGTATCA
5' ss Score
7.22
Exon sequences
Seq C1 exon
GGAGTAGCTGGCAAACCAGGCCCTCGGGGTCAGCGTGGTCCAACG
Seq A exon
GGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAG
Seq C2 exon
GGCACTTCAGGTGGCGATGGCCCTCCTGGCCCTCCAGGTGAAAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'50-53,'50-52,51-53=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.987 A=0.911 C2=0.912
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(18.9=100),PF0139113=Collagen=PU(8.5=33.3)
A:
PF0139113=Collagen=PD(14.9=61.1),PF0139113=Collagen=FE(28.8=100)
C2:
PF0139113=Collagen=PU(12.5=53.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGGGGTCAGCGTGGTC
R:
TCTTTCACCTGGAGGGCCA
Band lengths:
68-122
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains