HsaEX6082150 @ hg38
Exon Skipping
Gene
ENSG00000187955 | COL14A1
Description
collagen type XIV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2191]
Coordinates
chr8:120209756-120216490:+
Coord C1 exon
chr8:120209756-120209901
Coord A exon
chr8:120212448-120212577
Coord C2 exon
chr8:120216351-120216490
Length
130 bp
Sequences
Splice sites
3' ss Seq
ACAACATGTGTTCTTTTCAGATG
3' ss Score
10.48
5' ss Seq
CATGTGAGC
5' ss Score
5.03
Exon sequences
Seq C1 exon
TTGCTTTACCGATGGCTTCTGACCTTCTACTGTACGACGTGACTGAGAACAGCATGCGAGTCAAATGGGATGCAGTGCCTGGGGCCTCAGGTTACCTGATCCTTTATGCTCCTCTAACAGAGGGCCTGGCTGGGGATGAAAAAGAG
Seq A exon
ATGAAAATTGGAGAGACCCACACAGATATTGAATTGAGTGGGTTGTTGCCCAATACAGAATACACAGTCACAGTTTATGCCATGTTTGGAGAAGAGGCCAGTGATCCTGTTACGGGACAAGAAACAACAT
Seq C2 exon
TGGCTTTAAGTCCACCAAGAAACCTGAGAATCTCCAATGTTGGCTCTAACAGTGCTCGATTAACCTGGGACCCAACTTCAAGACAGATCAATGGTTATCGAATTGTATATAACAATGCAGATGGGACTGAAATCAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187955-'27-29,'27-27,28-29=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.041 A=0.242 C2=0.197
Domain overlap (PFAM):
C1:
PF0004116=fn3=PU(54.9=91.8)
A:
PF0004116=fn3=PD(42.7=79.5)
C2:
PF0004116=fn3=PU(54.4=91.5)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGACTGAGAACAGCATGCGA
R:
TGATTTCAGTCCCATCTGCATTGT
Band lengths:
243-373
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains