HsaEX6041048 @ hg19
Exon Skipping
Gene
ENSG00000187498 | COL4A1
Description
collagen, type IV, alpha 1 [Source:HGNC Symbol;Acc:2202]
Coordinates
chr13:110864921-110866362:-
Coord C1 exon
chr13:110866273-110866362
Coord A exon
chr13:110866129-110866173
Coord C2 exon
chr13:110864921-110864965
Length
45 bp
Sequences
Splice sites
3' ss Seq
GCATTTCTATTCTGTTCCAGGGT
3' ss Score
9.84
5' ss Seq
AGAGTGAGT
5' ss Score
7.36
Exon sequences
Seq C1 exon
GGTGAAAGAGGCCTCCCGGGGTTACAAGGTGTCATTGGGTTTCCTGGAATGCAAGGACCTGAGGGGCCACAGGGACCACCAGGACAAAAG
Seq A exon
GGTGATACTGGAGAACCAGGACTACCTGGAACAAAAGGGACAAGA
Seq C2 exon
GGACCTCCGGGAGCATCTGGCTACCCTGGAAACCCAGGACTTCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187498-'3-4,'3-3,4-4=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:
PF126692=P12=PD(34.3=76.7),PF0139113=Collagen=FE(42.0=100),PF0139113=Collagen=PU(21.8=56.7)
A:
PF0139113=Collagen=FE(20.3=100),PF0139113=Collagen=FE(17.9=100)
C2:
PF0139113=Collagen=PD(15.9=73.3),PF0139113=Collagen=FE(17.9=100),PF0139113=Collagen=PU(16.7=73.3)
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:
TGAAAGAGGCCTCCCGGG
R:
GGGAAGTCCTGGGTTTCCA
Band lengths:
133-178
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)