HsaEX6041094 @ hg38
Exon Skipping
Gene
ENSG00000134871 | COL4A2
Description
collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203]
Coordinates
chr13:110503121-110503993:+
Coord C1 exon
chr13:110503121-110503282
Coord A exon
chr13:110503383-110503481
Coord C2 exon
chr13:110503847-110503993
Length
99 bp
Sequences
Splice sites
3' ss Seq
ACGTCTTGTTTGTGTTGCAGGGC
3' ss Score
10.33
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GTTATCGGGGCCCACCAGGGCCACCAGGTTCTGCTGCTCTTCCTGGAAGCAAAGGTGACACAGGGAACCCAGGAGCTCCAGGAACCCCAGGGACCAAAGGATGGGCCGGGGACTCCGGGCCCCAGGGCAGGCCTGGTGTGTTTGGTCTCCCAGGAGAAAAAG
Seq A exon
GGCCCAGGGGTGAACAAGGCTTCATGGGGAACACTGGACCCACTGGGGCGGTGGGCGACAGAGGCCCCAAGGGACCCAAGGGAGACCCAGGATTCCCTG
Seq C2 exon
GTGCCCCCGGGACTGTGGGAGCCCCCGGGATTGCAGGAATCCCCCAGAAGATTGCCGTCCAACCAGGGACAGTGGGTCCCCAGGGGAGGCGAGGCCCCCCTGGGGCACCGGGGGAGATGGGGCCCCAGGGCCCCCCCGGAGAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871-'99-89,'99-87,100-89=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=PD(13.2=21.8),PF0139113=Collagen=PD(74.6=85.5),PF0139113=Collagen=PU(23.1=27.3)
A:
PF0139113=Collagen=FE(50.8=100)
C2:
PF0139113=Collagen=PD(24.6=32.0),PF0139113=Collagen=PU(58.5=62.0),PF0139113=Collagen=PU(10.8=18.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGCTCTTCCTGGAAGCAAA
R:
ATCTTCTGGGGGATTCCTGCA
Band lengths:
182-281
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains