Special

HsaEX0016318 @ hg38

Exon Skipping

Gene
ENSG00000187955 | COL14A1
Description
collagen type XIV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2191]
Coordinates
chr8:120228710-120244008:+
Coord C1 exon
chr8:120228710-120228769
Coord A exon
chr8:120231467-120231618
Coord C2 exon
chr8:120243879-120244008
Length
152 bp
Sequences
Splice sites
3' ss Seq
CTTGGTTGTGTTTATTCCAGTTT
3' ss Score
7.28
5' ss Seq
ACGGTCTGT
5' ss Score
5.11
Exon sequences
Seq C1 exon
TTGACAGTTTTTGGACAGAACCAGCTACAACCATAGTGCCTACCACATCTGTGACTTCAG
Seq A exon
TTTTCCAGACGGGAATCAGAAACCTAGTTGTAGGTGATGAAACTACTTCTAGCCTGCGGGTAAAATGGGACATTTCTGACAGCGATGTGCAGCAGTTTAGGGTGACCTACATGACAGCTCAAGGGGACCCTGAGGAAGAAGTCATAGGAACG
Seq C2 exon
GTTATGGTGCCTGGAAGCCAGAACAACCTCCTTCTGAAGCCTCTGCTTCCTGATACTGAATACAAAGTCACAGTGACTCCCATCTACACGGATGGCGAAGGCGTCAGCGTCTCCGCTCCTGGAAAAACCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187955_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.216 C2=0.200
Domain overlap (PFAM):

C1:
NO
A:
PF0004116=fn3=PU(56.0=92.2)
C2:
PF0004116=fn3=PD(41.7=79.5)


Main Inclusion Isoform:


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:
ACAGTTTTTGGACAGAACCAGCT
R:
GGTTTTTCCAGGAGCGGAGAC
Band lengths:
186-338
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development