HsaEX0016554 @ hg38
Exon Skipping
Gene
ENSG00000081052 | COL4A4
Description
collagen type IV alpha 4 chain [Source:HGNC Symbol;Acc:HGNC:2206]
Coordinates
chr2:227062530-227080549:-
Coord C1 exon
chr2:227080443-227080549
Coord A exon
chr2:227077894-227078077
Coord C2 exon
chr2:227062530-227062598
Length
184 bp
Sequences
Splice sites
3' ss Seq
TCATGACATAACATTCCCAGGGG
3' ss Score
2.71
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
GGCACAAAGGAGAAAGAGGTCCTGATGGGCCCCCAGGATTTCCAGGGCAGCCAGGATCACATGGTCGGGATGGACATGCTGGAGAAAAAGGGGATCCAGGACCTCCA
Seq A exon
GGGGATCATGAAGATGCGACCCCAGGTGGTAAAGGATTTCCTGGACCTCTGGGCCCCCCAGGCAAAGCAGGACCTGTGGGGCCCCCAGGACTGGGATTTCCTGGTCCACCAGGAGAGCGAGGCCACCCAGGAGTTCCAGGCCACCCAGGTGTGAGGGGCCCTGATGGCTTGAAGGGTCAGAAAG
Seq C2 exon
GTGACACAATTTCTTGCAACGTAACCTACCCTGGGAGGCATGGCCCTCCAGGTTTTGATGGACCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052_MULTIEX3-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(56.5=100)
A:
PF0139113=Collagen=PD(11.3=11.3),PF0139113=Collagen=PU(93.3=90.3)
C2:
PF0139113=Collagen=PD(5.0=12.5),PF0139113=Collagen=PU(21.7=62.5)
Main Skipping Isoform:
ENST00000396625fB12797
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCACAAAGGAGAAAGAGGTCC
R:
GTCCATCAAAACCTGGAGGGC
Band lengths:
170-354
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development