HsaEX6082159 @ hg38
Exon Skipping
Gene
ENSG00000187955 | COL14A1
Description
collagen type XIV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2191]
Coordinates
chr8:120158130-120168247:+
Coord C1 exon
chr8:120158130-120158246
Coord A exon
chr8:120162426-120162569
Coord C2 exon
chr8:120168161-120168247
Length
144 bp
Sequences
Splice sites
3' ss Seq
ATTTTTCTCTTTTATTATAGGTG
3' ss Score
10.72
5' ss Seq
GAAGTACGT
5' ss Score
7.46
Exon sequences
Seq C1 exon
TGGCTCCACCCACAAGGTTAAGATATAATGTAATATCTCATGACAGTATACAGATTTCATGGAAGGCTCCAAGAGGGAAATTTGGTGGTTACAAACTTCTTGTGACTCCAACTTCAG
Seq A exon
GTGGAAAAACTAACCAGCTGAATCTGCAGAACACTGCAACTAAAGCAATTATTCAAGGCCTTATGCCAGACCAGAATTACACAGTTCAAATTATTGCATACAATAAAGATAAAGAAAGCAAGCCAGCTCAAGGCCAATTCAGAA
Seq C2 exon
TTAAAGATTTAGAAAAAAGAAAGGATCCAAAGCCCAGAGTCAAAGTTGTGGACAGAGGAAATGGGAGTAGACCATCTTCACCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187955-'16-15,'16-14,18-15=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.163 C2=0.767
Domain overlap (PFAM):
C1:
PF0004116=fn3=PU(46.9=95.0)
A:
PF0004116=fn3=PD(51.9=85.7)
C2:
NO

Main Skipping Isoform:
ENST00000297848fB12720

Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACAGTATACAGATTTCATGGAAGG
R:
TCTGGTGAAGATGGTCTACTCCC
Band lengths:
162-306
Functional annotations
There are 2 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains