HsaEX6017417 @ hg38
Exon Skipping
Gene
ENSG00000204262 | COL5A2
Description
collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210]
Coordinates
chr2:189058429-189060783:-
Coord C1 exon
chr2:189060730-189060783
Coord A exon
chr2:189058849-189058893
Coord C2 exon
chr2:189058429-189058527
Length
45 bp
Sequences
Splice sites
3' ss Seq
AAAAAAAAATGTGTTTATAGGGT
3' ss Score
4.52
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
GGGCTTCCTGGTCCTCCAGGGCCTCCTGGAGAAGGTGGAAAACCAGGTGATCAA
Seq A exon
GGTGTTCCTGGAGATCCCGGAGCAGTTGGCCCGTTAGGACCTAGA
Seq C2 exon
GGAGAACGAGGAAATCCTGGGGAAAGAGGAGAACCTGGGATAACTGGACTCCCTGGTGAGAAGGGAATGGCTGGAGGACATGGTCCTGATGGCCCAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204262-'46-43,'46-42,47-43=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:
NO
A:
NO
C2:
PF0139113=Collagen=PU(7.0=18.2)
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:
GGGCTTCCTGGTCCTCCA
R:
ATGTCCTCCAGCCATTCCCTT
Band lengths:
135-180
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains