HsaEX1009414 @ hg38
Exon Skipping
Gene
ENSG00000134871 | COL4A2
Description
collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203]
Coordinates
chr13:110308069-110357552:+
Coord C1 exon
chr13:110308069-110308123
Coord A exon
chr13:110315203-110315205
Coord C2 exon
chr13:110357472-110357552
Length
3 bp
Sequences
Splice sites
3' ss Seq
TTCTATCAGGTGACCCGCAGCAG
3' ss Score
0.27
5' ss Seq
CAGGTATCA
5' ss Score
7.33
Exon sequences
Seq C1 exon
GTGGCTGCTGCTGGGGACAGTGACCGTGGGGTTCCTCGCCCAGAGCGTCTTGGCG
Seq A exon
CAG
Seq C2 exon
GGTGTGAAGAAGTTTGATGTGCCGTGTGGAGGAAGAGATTGCAGTGGGGGCTGCCAGTGCTACCCTGAGAAAGGTGGACGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871-MICROEX1
Average complexity
MIC-S
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.284
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0139113=Collagen=PU(6.3=14.8)
Main Inclusion Isoform:
ENST00000360467fB12781
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGGACAGTGACCGTGG
R:
CCCACTGCAATCTCTTCCTCC
Band lengths:
92-95
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains