Special

HsaEX6082151 @ hg38

Exon Skipping

Gene
ENSG00000187955 | COL14A1
Description
collagen type XIV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2191]
Coordinates
chr8:120208232-120212577:+
Coord C1 exon
chr8:120208232-120208361
Coord A exon
chr8:120209756-120209901
Coord C2 exon
chr8:120212448-120212577
Length
146 bp
Sequences
Splice sites
3' ss Seq
TAAAAAAAAATCTCTTGCAGTTG
3' ss Score
5.79
5' ss Seq
GAGGTAACC
5' ss Score
8.55
Exon sequences
Seq C1 exon
GTGGTGGTAGATGGAACTGTATCTTCCACAGTGTTGAAAAACTTGATGTCTTTAACTGAATATCAGATAGCAGTCTTTGCAATCTATGCCCACACTGCTAGTGAAGGCCTACGGGGAACTGAAACTACAC
Seq A exon
TTGCTTTACCGATGGCTTCTGACCTTCTACTGTACGACGTGACTGAGAACAGCATGCGAGTCAAATGGGATGCAGTGCCTGGGGCCTCAGGTTACCTGATCCTTTATGCTCCTCTAACAGAGGGCCTGGCTGGGGATGAAAAAGAG
Seq C2 exon
ATGAAAATTGGAGAGACCCACACAGATATTGAATTGAGTGGGTTGTTGCCCAATACAGAATACACAGTCACAGTTTATGCCATGTTTGGAGAAGAGGCCAGTGATCCTGTTACGGGACAAGAAACAACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187955-'26-27,'26-26,27-27
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.048 A=0.041 C2=0.242
Domain overlap (PFAM):

C1:
PF0004116=fn3=PD(43.8=79.5)
A:
PF0004116=fn3=PU(54.9=91.8)
C2:
PF0004116=fn3=PD(42.7=79.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAACTGTATCTTCCACAGTGT
R:
TGTTTCTTGTCCCGTAACAGGA
Band lengths:
245-391
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains