Special

HsaEX6032444 @ hg38

Exon Skipping

Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102923336-102935113:-
Coord C1 exon
chr1:102935060-102935113
Coord A exon
chr1:102934449-102934556
Coord C2 exon
chr1:102923336-102923389
Length
108 bp
Sequences
Splice sites
3' ss Seq
TGTTTCTTTCTCTTCTCTAGGGA
3' ss Score
12.55
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GGCCCTCCCGGTCCCCCAGGTCTTCAAGGACCAGTTGGTGCCCCTGGAATTGCT
Seq A exon
GGAGGTGATGGTGAACCAGGTCCTAGAGGACAGCAGGGGATGTTTGGGCAAAAAGGTGATGAGGGTGCCAGAGGCTTCCCTGGACCTCCTGGTCCAATAGGTCTTCAG
Seq C2 exon
GGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'68-72,'68-68,69-72=AN
Average complexity
A_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=FE(24.6=100)
A:
PF0139113=Collagen=FE(50.7=100)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCCCCAGGTCTTCAAGGAC
R:
ACCAACATCCCCATTTTCACCT
Band lengths:
92-200
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains