HsaEX6017426 @ hg38
Exon Skipping
Gene
ENSG00000204262 | COL5A2
Description
collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210]
Coordinates
chr2:189051320-189052802:-
Coord C1 exon
chr2:189052749-189052802
Coord A exon
chr2:189052172-189052225
Coord C2 exon
chr2:189051320-189051481
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATATGATATTCTGGTTCTAGGGT
3' ss Score
7.36
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTCCTAATGGTGTTCCTGGACTAAAAGGTGGTCGAGGAACCCAAGGTCCGCCT
Seq A exon
GGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCT
Seq C2 exon
GGAGCTCCAGGACCTGCGGGACCCCTAGGGGAACCCGGGAAGGAGGGACCTCCAGGTCTTCGTGGGGACCCTGGCTCTCATGGGCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204262-'56-53,'56-52,57-53
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=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(22.5=88.9)
A:
PF0139113=Collagen=PU(9.5=44.4)
C2:
PF0139113=Collagen=FE(63.1=100),PF0139113=Collagen=PU(37.6=59.3)
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:
AAAGGTGGTCGAGGAACCCAA
R:
CTGGTCCTCGATCTCCCACAC
Band lengths:
136-190
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains