Special

HsaEX6032441 @ hg19

Exon Skipping

Gene
ENSG00000060718 | COL11A1
Description
collagen, type XI, alpha 1 [Source:HGNC Symbol;Acc:2186]
Coordinates
chr1:103404591-103412512:-
Coord C1 exon
chr1:103412405-103412512
Coord A exon
chr1:103405883-103405990
Coord C2 exon
chr1:103404591-103404644
Length
108 bp
Sequences
Splice sites
3' ss Seq
TCTTTGGATATTCAATACAGGGA
3' ss Score
3.85
5' ss Seq
AAGGTTGGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GGCTCACCAGGAGAACGTGGGTCAGCAGGTACAGCTGGCCCAATTGGTTTACCAGGGCGCCCGGGACCTCAGGGTCCTCCTGGTCCAGCTGGAGAGAAAGGTGCTCCT
Seq A exon
GGAGAAAAAGGTCCCCAAGGGCCTGCAGGGAGAGATGGAGTTCAAGGTCCTGTTGGTCTCCCAGGGCCAGCTGGTCCTGCCGGCTCCCCTGGGGAAGACGGAGACAAG
Seq C2 exon
GGTGAAATTGGTGAGCCGGGACAAAAAGGCAGCAAGGGTGACAAGGGAGAAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'50-52,'50-51,51-52=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=PD(18.3=47.2),PF0139113=Collagen=FE(40.7=100)
A:
PF0139113=Collagen=PD(13.2=33.3),PF0139113=Collagen=FE(44.9=100)
C2:
PF0139113=Collagen=PU(20.3=77.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
CAGGAGAACGTGGGTCAGCAG
R:
TTTTCTCCCTTGTCACCCTTGC
Band lengths:
154-262
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains