Special

HsaEX6082154 @ hg19

Exon Skipping

Gene
ENSG00000187955 | COL14A1
Description
collagen, type XIV, alpha 1 [Source:HGNC Symbol;Acc:2191]
Coordinates
chr8:121211641-121219333:+
Coord C1 exon
chr8:121211641-121211805
Coord A exon
chr8:121215948-121216109
Coord C2 exon
chr8:121219182-121219333
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-'12-17,'12-16,13-17=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.074 A=0.129 C2=0.091
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 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:
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