HsaEX0016555 @ hg38
Exon Skipping
Gene
ENSG00000081052 | COL4A4
Description
collagen type IV alpha 4 chain [Source:HGNC Symbol;Acc:HGNC:2206]
Coordinates
chr2:227140161-227147584:-
Coord C1 exon
chr2:227147413-227147584
Coord A exon
chr2:227144516-227144558
Coord C2 exon
chr2:227140161-227140238
Length
43 bp
Sequences
Splice sites
3' ss Seq
GCGTTTTTGTTTTTCTGTAGGTC
3' ss Score
11.77
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
GAACAGACTTTGACCCAGAACACAGAACCTCACTTGTCAACAAGAACCTTCTGGAAGAGAAGACTGGCAGAATATTTTTTAAGTACTAAGACTTGCCTGCGATGTGGTCTCTGCACATAGTACTAATGAGGTGCTCCTTCAGATTGACCAAGTCCTTGGCCACAGGTCCCTG
Seq A exon
GTCACTTATACTCATTCTCTTTTCTGTACAATATGTATATGGG
Seq C2 exon
AGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052_MULTIEX4-2/2=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=0.000 A=0.000 C2=0.236
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0139113=Collagen=PU(3.3=7.7)
Main Skipping Isoform:
ENST00000396625fB12798
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:
TAAGACTTGCCTGCGATGTGG
R:
ACACAGTGGCAAACAGAGCAA
Band lengths:
145-188
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