HsaEX6082154 @ hg38
Exon Skipping
Gene
ENSG00000187955 | COL14A1
Description
collagen type XIV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2191]
Coordinates
chr8:120199402-120207094:+
Coord C1 exon
chr8:120199402-120199566
Coord A exon
chr8:120203709-120203870
Coord C2 exon
chr8:120206943-120207094
Length
162 bp
Sequences
Splice sites
3' ss Seq
TTTTTTGTCCTCTGTGTAAGGGG
3' ss Score
5.33
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GTCTTGCTTTGAACTACATTTTTGAAAATAGCTTCAAACCAGAAGCAGGATCAAGGACTGGAGTATCCAAAATTGGCATTTTAATCACAGATGGAAAATCCCAAGATGACATTATTCCACCATCTAGAAATCTTCGTGAGTCTGGTGTAGAACTGTTTGCCATAG
Seq A exon
GGGTGAAAAACGCGGATGTGAATGAGCTGCAGGAGATCGCCTCTGAACCAGACAGCACTCATGTGTACAATGTTGCCGAATTCGATCTGATGCACACAGTTGTGGAGAGTCTGACCAGGACTCTCTGCTCTAGAGTGGAAGAACAGGACAGAGAAATTAAAG
Seq C2 exon
CCTCAGCCCATGCCATCACTGGGCCGCCTACGGAGTTGATTACTTCTGAAGTCACTGCCAGAAGCTTTATGGTTAACTGGACTCATGCCCCAGGAAATGTGGAAAAATACAGAGTTGTGTATTATCCTACCAGGGGTGGAAAACCAGACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187955-'23-24,'23-23,24-24
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.074 A=0.133 C2=0.096
Domain overlap (PFAM):
C1:
PF0009223=VWA=FE(31.8=100)
A:
PF0009223=VWA=PD(21.4=67.3)
C2:
PF0004116=fn3=PU(53.8=84.3)
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:
AGCAGGATCAAGGACTGGAGT
R:
CCCCTGGTAGGATAATACACAACT
Band lengths:
258-420
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains