Special

HsaEX6016606 @ hg38

Exon Skipping

Gene
ENSG00000154479 | CCDC173
Description
coiled-coil domain containing 173 [Source:HGNC Symbol;Acc:HGNC:25064]
Coordinates
chr2:169645425-169650521:-
Coord C1 exon
chr2:169650329-169650521
Coord A exon
chr2:169649182-169649346
Coord C2 exon
chr2:169645425-169646182
Length
165 bp
Sequences
Splice sites
3' ss Seq
CTTTGCCTTTAAACATCTAGATG
3' ss Score
6.86
5' ss Seq
ATGGTAATT
5' ss Score
6.49
Exon sequences
Seq C1 exon
GCTTATGGAGAAACGAAGAGAAAGAATACATAACTTCCTGAGTGAACTGTTGAAAGAGAAACTTGACAATGAAGATATGATTATTGCTAGAGATATTGCAGAAGCTGAGGCTGAATGGGAAAAAAGAGAAAGAGAAAAAGATGAAAAAAACAAAGCAGAATTAAAAACAATTGCAGAATATCGAGCCATTGTG
Seq A exon
ATGAAAAATAAAGAGGAAGAAGAAAGACAAAGAAAAATAGAGGCTAAAGAACAATTGCTGGCTGTCATGAAAGCAGATCAGATTTTCTGGGAACATGAAAAGGAGAAAAAATGCAAAGCTGATAAAGAACATCAAGAGGTTCAAGATGCCCATATTCAGCAAATG
Seq C2 exon
GCCAAAAATAAGTTTAATGCAAAGCAAGCAAAACAAGCAGAATTAGATTATTGCAGACTTACTGAAGCTCTTGTGGCTGAAAAGGAGAAAGAATTTCAGGACTATGCCAGAGAGGTAATTGAACTTGAATCGGAAACAACAAATAAATATATTTACCCTCTTGTAAAAGCTGTACAGGAAGGACCTGGAGGTGGCCGTGGACCAGTGTTTGTGGACAGAGGTGGATTAAGACCCAGCTATCAGGCAAATGATGTTACTGGAGTCCAGCTCCCTTTTTATAACTCTCAGGGACCAAAATATAATTTTCAAAAGTCAAAGAGAAGGCTAGGTTTTACATGGTAGAAAAAAATTATTTTTAACATTGAGAAGACTAAGTTGTAGCATATATGAGCTTCAAATATAAATGGATTTCAGTTAATAAAGCTGTTCTTCATCTAAGTACAATTATGTCTGATTTAATTGATTGTTCTCAGTATTTCTTTTGGGTATATATAAAACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154479-'21-24,'21-23,22-24=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.323 A=0.418 C2=0.133
Domain overlap (PFAM):

C1:
PF138681=Trichoplein=FE(19.0=100)
A:
PF138681=Trichoplein=FE(16.1=100)
C2:
PF138681=Trichoplein=PD(12.5=36.8)


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)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGAATATCGAGCCATTGTG
R:
TCCACCTCTGTCCACAAACAC
Band lengths:
247-412
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains