HsaEX6041098 @ hg38
Exon Skipping
Gene
ENSG00000134871 | COL4A2
Description
collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203]
Coordinates
chr13:110492070-110495467:+
Coord C1 exon
chr13:110492070-110492177
Coord A exon
chr13:110493211-110493282
Coord C2 exon
chr13:110495342-110495467
Length
72 bp
Sequences
Splice sites
3' ss Seq
GATGAGTGACACCCCCGCAGGTT
3' ss Score
4
5' ss Seq
CAGGTACTC
5' ss Score
7.04
Exon sequences
Seq C1 exon
GCTTTCCAGGGCTGACTGGGCCTCCAGGGTCGCAGGGAGAGCTGGGGCGGATTGGACTGCCTGGTGGCAAAGGAGATGATGGCTGGCCGGGAGCTCCGGGCTTACCAG
Seq A exon
GTTTTCCGGGACTCCGTGGGATCCGCGGCTTACACGGCTTGCCAGGCACCAAGGGCTTTCCAGGATCCCCAG
Seq C2 exon
GTTCTGACATCCACGGAGACCCAGGCTTCCCAGGCCCTCCTGGGGAAAGAGGTGACCCAGGAGAGGCCAACACCCTTCCAGGCCCTGTGGGAGTCCCAGGACAGAAAGGAGACCAAGGAGCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871-'89-81,'89-80,91-81
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(9.8=16.2),PF0139113=Collagen=FE(52.9=100),PF0139113=Collagen=PU(20.6=35.1)
A:
PF0139113=Collagen=FE(35.3=100),PF0139113=Collagen=FE(38.1=100)
C2:
PF0139113=Collagen=PD(4.4=7.0),PF0139113=Collagen=PD(39.7=58.1),PF0139113=Collagen=PU(51.3=90.7)
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:
GTGGCAAAGGAGATGATGGCT
R:
CTGGAGCTCCTTGGTCTCCTT
Band lengths:
171-243
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains