HsaEX6032437 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102962176-102965540:-
Coord C1 exon
chr1:102965487-102965540
Coord A exon
chr1:102962653-102962760
Coord C2 exon
chr1:102962176-102962265
Length
108 bp
Sequences
Splice sites
3' ss Seq
ATTTTGCTTATCTAATTTAGGGA
3' ss Score
7.98
5' ss Seq
AAGGTACAA
5' ss Score
6.82
Exon sequences
Seq C1 exon
GGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAG
Seq A exon
GGACCAACCGGTGAGACTGGTCCAATAGGGGAACGTGGGCATCCTGGCCCTCCTGGCCCTCCTGGTGAGCAAGGTCTTCCTGGTGCTGCAGGAAAAGAAGGTGCAAAG
Seq C2 exon
GGTGATCCAGGTCCTCAAGGTATCTCAGGGAAAGATGGACCAGCAGGATTACGTGGTTTCCCAGGGGAAAGAGGTCTTCCTGGAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'56-62,'56-60,59-62=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(22.1=100),PF0139113=Collagen=FE(21.5=100)
A:
PF0139113=Collagen=PD(24.7=52.8),PF0139113=Collagen=FE(44.3=100),PF0139113=Collagen=PU(35.6=72.2)
C2:
PF0139113=Collagen=PD(15.2=40.0),PF0139113=Collagen=FE(39.7=100)
Main Skipping Isoform:
ENST00000358392fB1723
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGATTTCAAGGCAAGACCGGC
R:
TCCAGGAAGACCTCTTTCCCC
Band lengths:
138-246
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains