Special

HsaEX0010786 @ hg38

Exon Skipping

Gene
ENSG00000154479 | CCDC173
Description
coiled-coil domain containing 173 [Source:HGNC Symbol;Acc:HGNC:25064]
Coordinates
chr2:169649182-169654214:-
Coord C1 exon
chr2:169654075-169654214
Coord A exon
chr2:169650329-169650521
Coord C2 exon
chr2:169649182-169649346
Length
193 bp
Sequences
Splice sites
3' ss Seq
GTATGGTTATTTTGTTATAGGCT
3' ss Score
6.77
5' ss Seq
GTGGTAAAC
5' ss Score
3
Exon sequences
Seq C1 exon
GAACATATGCAGGATAAACATATTATCAAAGCTGTAGAACAGCAGCAGCAAGAGGAAGAAGATGAAAAGATGAGAAAATTCATCAAAGCAAAAAAGCGTCTTATACAAATGGGGAAAGAAAAAGAGGCTGAAACACACAG
Seq A exon
GCTTATGGAGAAACGAAGAGAAAGAATACATAACTTCCTGAGTGAACTGTTGAAAGAGAAACTTGACAATGAAGATATGATTATTGCTAGAGATATTGCAGAAGCTGAGGCTGAATGGGAAAAAAGAGAAAGAGAAAAAGATGAAAAAAACAAAGCAGAATTAAAAACAATTGCAGAATATCGAGCCATTGTG
Seq C2 exon
ATGAAAAATAAAGAGGAAGAAGAAAGACAAAGAAAAATAGAGGCTAAAGAACAATTGCTGGCTGTCATGAAAGCAGATCAGATTTTCTGGGAACATGAAAAGGAGAAAAAATGCAAAGCTGATAAAGAACATCAAGAGGTTCAAGATGCCCATATTCAGCAAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154479_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.787 A=0.323 C2=0.418
Domain overlap (PFAM):

C1:
PF138681=Trichoplein=FE(13.7=100)
A:
PF138681=Trichoplein=FE(19.0=100)
C2:
PF138681=Trichoplein=FE(16.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCAGCAGCAAGAGGAAGAA
R:
TGGGCATCTTGAACCTCTTGA
Band lengths:
253-446
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development