HsaEX6041096 @ hg38
Exon Skipping
Gene
ENSG00000134871 | COL4A2
Description
collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203]
Coordinates
chr13:110495342-110503282:+
Coord C1 exon
chr13:110495342-110495467
Coord A exon
chr13:110501668-110501784
Coord C2 exon
chr13:110503121-110503282
Length
117 bp
Sequences
Splice sites
3' ss Seq
TCTTCTGTTTTCATCCTAAGGGG
3' ss Score
8.89
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
Exon sequences
Seq C1 exon
GTTCTGACATCCACGGAGACCCAGGCTTCCCAGGCCCTCCTGGGGAAAGAGGTGACCCAGGAGAGGCCAACACCCTTCCAGGCCCTGTGGGAGTCCCAGGACAGAAAGGAGACCAAGGAGCTCCAG
Seq A exon
GGGAACGAGGCCCACCTGGGAGCCCAGGACTTCAGGGGTTCCCTGGTATCACACCCCCTTCCAACATCTCTGGGGCACCTGGTGACAAAGGGGCGCCAGGGATATTTGGCCTGAAAG
Seq C2 exon
GTTATCGGGGCCCACCAGGGCCACCAGGTTCTGCTGCTCTTCCTGGAAGCAAAGGTGACACAGGGAACCCAGGAGCTCCAGGAACCCCAGGGACCAAAGGATGGGCCGGGGACTCCGGGCCCCAGGGCAGGCCTGGTGTGTTTGGTCTCCCAGGAGAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871-'92-86,'92-85,97-86
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(4.4=7.0),PF0139113=Collagen=PD(39.7=58.1),PF0139113=Collagen=PU(51.3=90.7)
A:
PF0139113=Collagen=PD(47.4=90.0),PF0139113=Collagen=PU(23.8=37.5)
C2:
PF0139113=Collagen=PD(13.2=21.8),PF0139113=Collagen=PD(74.6=85.5),PF0139113=Collagen=PU(23.1=27.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGACCCAGGCTTCCCAGG
R:
GACCAAACACACCAGGCCTG
Band lengths:
258-375
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains