HsaEX0016557 @ hg38
Exon Skipping
Gene
ENSG00000081052 | COL4A4
Description
collagen type IV alpha 4 chain [Source:HGNC Symbol;Acc:HGNC:2206]
Coordinates
chr2:227008018-227012297:-
Coord C1 exon
chr2:227012181-227012297
Coord A exon
chr2:227010313-227010501
Coord C2 exon
chr2:227008018-227008304
Length
189 bp
Sequences
Splice sites
3' ss Seq
TTTTTCCTTTGTTCCTCCAGGGC
3' ss Score
12.66
5' ss Seq
TTGGTATGG
5' ss Score
5.53
Exon sequences
Seq C1 exon
GGTGCAAAGGAGAGCCTGGGCTGGATGGCAGGAGGGGTGTGGATGGCGTCCCTGGGTCTCCTGGGCCTCCCGGACGTAAAGGTGACACAGGAGAAGACGGCTACCCTGGAGGACCAG
Seq A exon
GGCCTCCTGGTCCCATTGGGGATCCTGGGCCCAAAGGGTTTGGCCCTGGATACCTCGGTGGCTTCCTCCTGGTTCTCCACAGTCAGACGGACCAGGAGCCCACCTGCCCCCTGGGCATGCCCAGGCTCTGGACTGGGTATAGTCTGTTATACCTGGAAGGGCAAGAGAAAGCTCACAATCAAGACCTTG
Seq C2 exon
GTCTGGCAGGGTCTTGCCTTCCCGTATTTAGCACGCTGCCCTTTGCCTACTGCAACATCCACCAGGTGTGCCACTATGCCCAGAGAAACGACAGATCCTACTGGCTGGCCAGCGCTGCGCCCCTCCCCATGATGCCACTCTCTGAAGAGGCGATCCGCCCCTATGTCAGCCGCTGTGCGGTATGCGAGGCCCCGGCCCAGGCGGTGGCGGTGCACAGCCAGGACCAGTCCATCCCCCCATGTCCGCAGACCTGGAGGAGCCTCTGGATCGGGTATTCATTCCTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052_MULTIEX1-2/2=1-C2
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=0.281 C2=0.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(36.7=45.0),PF0139113=Collagen=FE(65.0=100)
A:
PF0139113=Collagen=PD(31.7=29.7),PF0141314=C4=PU(39.8=67.2)
C2:
PF0141314=C4=PD(59.3=66.7),PF0141314=C4=PU(25.6=31.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGATGGCAGGAGGGGTG
R:
CGGATCGCCTCTTCAGAGAGT
Band lengths:
253-442
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