HsaEX1009309 @ hg38
Exon Skipping
Gene
ENSG00000187955 | COL14A1
Description
collagen type XIV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2191]
Coordinates
chr8:120158130-120162569:+
Coord C1 exon
chr8:120158130-120158246
Coord A exon
chr8:120161335-120161456
Coord C2 exon
chr8:120162426-120162569
Length
122 bp
Sequences
Splice sites
3' ss Seq
ATTAATTTTCCTTTTCTCAGACA
3' ss Score
7.65
5' ss Seq
GAGGTAATG
5' ss Score
8.73
Exon sequences
Seq C1 exon
TGGCTCCACCCACAAGGTTAAGATATAATGTAATATCTCATGACAGTATACAGATTTCATGGAAGGCTCCAAGAGGGAAATTTGGTGGTTACAAACTTCTTGTGACTCCAACTTCAG
Seq A exon
ACACATAATTGCAGGCAAAAATTAGAGAAGAAAAGTAAAATTTGGAATTCTGCATAAAAGTTGAGTATTTATCATCAGCACTTTCAAGAAAGCCTTAGATGTCAGTGTAACCTGATGGAGAG
Seq C2 exon
GTGGAAAAACTAACCAGCTGAATCTGCAGAACACTGCAACTAAAGCAATTATTCAAGGCCTTATGCCAGACCAGAATTACACAGTTCAAATTATTGCATACAATAAAGATAAAGAAAGCAAGCCAGCTCAAGGCCAATTCAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187955_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.163
Domain overlap (PFAM):
C1:
PF0004116=fn3=PU(46.9=95.0)
A:
PF0004116=fn3=PD(2.5=33.3)
C2:
PF0004116=fn3=PD(51.9=85.7)
Main Inclusion Isoform:
ENST00000297848fB12720
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
ACAGTATACAGATTTCATGGAAGGCT
R:
TCTGAATTGGCCTTGAGCTGG
Band lengths:
218-340
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains