Special

HsaEX6032448 @ hg38

Exon Skipping

Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102914704-102920364:-
Coord C1 exon
chr1:102920311-102920364
Coord A exon
chr1:102915631-102915684
Coord C2 exon
chr1:102914704-102914811
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATTTGATCTTCTCTATATAGGGT
3' ss Score
9.19
5' ss Seq
GGCGTAAGT
5' ss Score
9.39
Exon sequences
Seq C1 exon
GGACCACAAGGACCCCCAGGGTCTGTTGGTTCAGTTGGTGGTGTTGGAGAAAAG
Seq A exon
GGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGC
Seq C2 exon
GGTCCCAAAGGAGAAAGAGGAGAGAAAGGGGAAGCTGGTCCACCTGGAGCTGCTGGACCTCCAGGTGCCAAGGGGCCACCAGGTGATGATGGCCCTAAGGGTAACCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'74-76,'74-75,75-76
Average complexity
S
Mappability confidence:
88%=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(20.2=100)
A:
PF0139113=Collagen=FE(20.2=100)
C2:
PF0139113=Collagen=FE(41.7=100),PF0139113=Collagen=PU(34.5=55.6)


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:
GGGTCTGTTGGTTCAGTTGGT
R:
TTAGGGCCATCATCACCTGGT
Band lengths:
134-188
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains