HsaEX6082148 @ hg38
Exon Skipping
Gene
ENSG00000187955 | COL14A1
Description
collagen type XIV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2191]
Coordinates
chr8:120212448-120225214:+
Coord C1 exon
chr8:120212448-120212577
Coord A exon
chr8:120216351-120216490
Coord C2 exon
chr8:120225088-120225214
Length
140 bp
Sequences
Splice sites
3' ss Seq
CTATTCCATTTACTGCCAAGTGG
3' ss Score
1.27
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
ATGAAAATTGGAGAGACCCACACAGATATTGAATTGAGTGGGTTGTTGCCCAATACAGAATACACAGTCACAGTTTATGCCATGTTTGGAGAAGAGGCCAGTGATCCTGTTACGGGACAAGAAACAACAT
Seq A exon
TGGCTTTAAGTCCACCAAGAAACCTGAGAATCTCCAATGTTGGCTCTAACAGTGCTCGATTAACCTGGGACCCAACTTCAAGACAGATCAATGGTTATCGAATTGTATATAACAATGCAGATGGGACTGAAATCAATGAG
Seq C2 exon
GTTGAAGTCGATCCTATTACTACCTTCCCTCTGAAGGGCTTGACACCTCTCACAGAGTATACTATTGCTATTTTCTCCATCTATGATGAAGGACAGTCAGAGCCTCTGACTGGAGTTTTTACCACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187955-'28-31,'28-29,31-31
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.242 A=0.197 C2=0.186
Domain overlap (PFAM):
C1:
PF0004116=fn3=PD(42.7=79.5)
A:
PF0004116=fn3=PU(54.4=91.5)
C2:
PF0004116=fn3=PD(43.0=79.1)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATTGGAGAGACCCACACAGA
R:
AAAACTCCAGTCAGAGGCTCT
Band lengths:
244-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains