HsaEX6066225 @ hg38
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200]
Coordinates
chr12:47975317-47976567:-
Coord C1 exon
chr12:47976514-47976567
Coord A exon
chr12:47975963-47976070
Coord C2 exon
chr12:47975317-47975605
Length
108 bp
Sequences
Splice sites
3' ss Seq
ACGACCTCTCTCTCTTGCAGGGT
3' ss Score
12.41
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTCCTTCTGGAGACCAAGGTGCTTCTGGTCCTGCTGGTCCTTCTGGCCCTAGA
Seq A exon
GGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCT
Seq C2 exon
GGTCCTCCTGGAAATCCTGGACCCCCTGGTCCTCCAGGTCCCCCTGGCCCTGGCATCGACATGTCCGCCTTTGCTGGCTTAGGCCCGAGAGAGAAGGGCCCCGACCCCCTGCAGTACATGCGGGCCGACCAGGCAGCCGGTGGCCTGAGACAGCATGACGCCGAGGTGGATGCCACACTCAAGTCCCTCAACAACCAGATTGAGAGCATCCGCAGCCCCGAGGGCTCCCGCAAGAACCCTGCTCGCACCTGCAGAGACCTGAAACTCTGCCACCCTGAGTGGAAGAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'58-61,'58-60,59-61
Average complexity
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=0.866
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(20.7=100),PF0139113=Collagen=PU(12.7=44.4)
A:
PF0139113=Collagen=PD(18.3=41.7),PF0139113=Collagen=FE(55.6=100)
C2:
PF0139113=Collagen=PD(27.0=17.5),PF0141013=COLFI=PU(12.4=27.8)
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:
GGTCCTTCTGGAGACCAAGGT
R:
GTTGAGGGACTTGAGTGTGGC
Band lengths:
246-354
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains