HsaEX6046557 @ hg38
Exon Skipping
Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33177181-33177706:-
Coord C1 exon
chr6:33177662-33177706
Coord A exon
chr6:33177412-33177465
Coord C2 exon
chr6:33177181-33177225
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCCTGGTCACCTGTTTCTAGGGA
3' ss Score
7.12
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GGCGTCCGAGGCATGGATGGTCCCCAGGGCCCCAAAGGGAGCTTG
Seq A exon
GGACCCCAGGGAGAGCCAGGACCTCCTGGACAACAGGGCACCCCTGGGACCCAG
Seq C2 exon
GGTCTTCCCGGGCCCCAGGGTGCCATCGGCCCTCATGGAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248-'32-28,'32-27,33-28=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(17.9=100),PF0139113=Collagen=FE(18.2=100),PF0139113=Collagen=PU(2.6=13.3)
A:
PF0139113=Collagen=FE(22.1=100),PF0139113=Collagen=FE(22.4=100)
C2:
PF0139113=Collagen=PD(13.0=66.7),PF0139113=Collagen=FE(18.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCGAGGCATGGATGGTCC
R:
CTTCTCTCCATGAGGGCCGAT
Band lengths:
86-140
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains