Special

HsaEX6082153 @ hg38

Exon Skipping

Gene
ENSG00000187955 | COL14A1
Description
collagen type XIV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2191]
Coordinates
chr8:120203709-120208361:+
Coord C1 exon
chr8:120203709-120203870
Coord A exon
chr8:120206943-120207094
Coord C2 exon
chr8:120208232-120208361
Length
152 bp
Sequences
Splice sites
3' ss Seq
GATATGTTTTTTTAATTTAGCCT
3' ss Score
5.47
5' ss Seq
GAGGTAATA
5' ss Score
7.96
Exon sequences
Seq C1 exon
GGGTGAAAAACGCGGATGTGAATGAGCTGCAGGAGATCGCCTCTGAACCAGACAGCACTCATGTGTACAATGTTGCCGAATTCGATCTGATGCACACAGTTGTGGAGAGTCTGACCAGGACTCTCTGCTCTAGAGTGGAAGAACAGGACAGAGAAATTAAAG
Seq A exon
CCTCAGCCCATGCCATCACTGGGCCGCCTACGGAGTTGATTACTTCTGAAGTCACTGCCAGAAGCTTTATGGTTAACTGGACTCATGCCCCAGGAAATGTGGAAAAATACAGAGTTGTGTATTATCCTACCAGGGGTGGAAAACCAGACGAG
Seq C2 exon
GTGGTGGTAGATGGAACTGTATCTTCCACAGTGTTGAAAAACTTGATGTCTTTAACTGAATATCAGATAGCAGTCTTTGCAATCTATGCCCACACTGCTAGTGAAGGCCTACGGGGAACTGAAACTACAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187955-'24-25,'24-24,25-25=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.133 A=0.096 C2=0.048
Domain overlap (PFAM):

C1:
PF0009223=VWA=PD(21.4=67.3)
A:
PF0004116=fn3=PU(53.8=84.3)
C2:
PF0004116=fn3=PD(43.8=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:
AGATCGCCTCTGAACCAGACA
R:
CCGTAGGCCTTCACTAGCAGT
Band lengths:
243-395
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains