HsaEX1009432 @ hg38
Exon Skipping
Gene
ENSG00000081052 | COL4A4
Description
collagen type IV alpha 4 chain [Source:HGNC Symbol;Acc:HGNC:2206]
Coordinates
chr2:227082115-227088063:-
Coord C1 exon
chr2:227087966-227088063
Coord A exon
chr2:227085972-227086154
Coord C2 exon
chr2:227082115-227082187
Length
183 bp
Sequences
Splice sites
3' ss Seq
CTTTGCATTCATTGCCTTAGCCT
3' ss Score
5.79
5' ss Seq
TTGGTAAGA
5' ss Score
8.85
Exon sequences
Seq C1 exon
GCCTTGTTTCAGGTGCTGGGGATACAGCAGGGACCAGAGCCCAGTCTCTGCCCTCCTAGAGCTTCAGAGAGGACACAGACCATCTAACAGATCAGCAA
Seq A exon
CCTGACGGCGCTCCCTAGGATGGGATTTCCGGCCAGGATGCTCTAGTGCAAGGCACTAGGGCCTAGGAGCAAGTGGACCAGCTTCAGATCCCATCTCCGACATTTGGGAGCTCTGCAGTCTTCTAAGTTTTACTTGCAGCATTTATAAAATGGATATAAGAACACCATCTTAGAGGCTTGTTG
Seq C2 exon
GGAAAGCATGGTGCCTCTGGACCACCTGGCAACAAAGGGGCGAAGGGTGACATGGTTGTATCAAGAGTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052_MULTIEX2-4/4=3-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(1.9=3.4)
A:
PF0139113=Collagen=PD(7.3=66.7)
C2:
PF0139113=Collagen=PD(25.8=68.0),PF0139113=Collagen=PU(29.0=72.0)
Main Inclusion Isoform:
ENST00000396625fB12796
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTTGTTTCAGGTGCTGGGG
R:
CTTTAACTCTTGATACAACCATGTCA
Band lengths:
170-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains