Special

HsaEX0016171 @ hg19

Exon Skipping

Gene
Description
coagulation factor C homolog, cochlin (Limulus polyphemus) [Source:HGNC Symbol;Acc:2180]
Coordinates
chr14:31355002-31364271:+
Coord C1 exon
chr14:31355002-31355518
Coord A exon
chr14:31358822-31358999
Coord C2 exon
chr14:31364119-31364271
Length
178 bp
Sequences
Splice sites
3' ss Seq
TTAAAATGTTTTCATTGTAGGAA
3' ss Score
9.65
5' ss Seq
ATGGTAACA
5' ss Score
4.87
Exon sequences
Seq C1 exon
TGGCTTCTTCTCTTACCACATGCCCAACTGGTTTGGCACCACAAAATACGTAAAGCCTCTGGTACAGAAGCTGTGCACTCATGAACAAATGATGTGCAGCAAGACCTGTTATAACTCAGTGAACATTGCCTTTCTAATTGATGGCTCCAGCAGTGTTGGAGATAGCAATTTCCGCCTCATGCTTGAATTTGTTTCCAACATAGCCAAGACTTTTGAAATCTCGGACATTGGTGCCAAGATAGCTGCTGTACAGTTTACTTATGATCAGCGCACGGAGTTCAGTTTCACTGACTATAGCACCAAAGAGAATGTCCTAGCTGTCATCAGAAACATCCGCTATATGAGTGGTGGAACAGCTACTGGTGATGCCATTTCCTTCACTGTTAGAAATGTGTTTGGCCCTATAAGGGAGAGCCCCAACAAGAACTTCCTAGTAATTGTCACAGATGGGCAGTCCTATGATGATGTCCAAGGCCCTGCAGCTGCTGCACATGATGCAG
Seq A exon
GAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATG
Seq C2 exon
CAAAATAAGTTTAAAAGGGAATCTGTGGCATTCAACCGATAAACAGAAGATCACTAAGAGATGAAAAAAAGCTACTCTTGGAGCTCACTTCCCCCAACAAGAGCACCACATTCCTAACCCCTAAGGCAGCACACAGAGTCCAAAAAAAAAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100473_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. Stop)

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

C1:
PF0009223=VWA=PD(3.7=3.5),PF0009223=VWA=PU(72.8=72.8)
A:
PF0009223=VWA=PD(26.6=78.0)
C2:
PF0009223=VWA=PD(0.8=33.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAACAGCTACTGGTGATGCC
R:
CTTGTTGGGGGAAGTGAGCTC
Band lengths:
252-430
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