Special

HsaEX6016603 @ hg38

Exon Skipping

Gene
ENSG00000154479 | CCDC173
Description
coiled-coil domain containing 173 [Source:HGNC Symbol;Acc:HGNC:25064]
Coordinates
chr2:169662280-169675040:-
Coord C1 exon
chr2:169674867-169675040
Coord A exon
chr2:169674576-169674769
Coord C2 exon
chr2:169662280-169662436
Length
194 bp
Sequences
Splice sites
3' ss Seq
CTATAATTTTTCTTTTGTAGTCG
3' ss Score
7.5
5' ss Seq
ACAGTATGT
5' ss Score
6.05
Exon sequences
Seq C1 exon
GGGATGAAAGAACAGAAACTTGAAGCCAAAAAGAAGCGTGATGAAGAAATAGAGGCAGAAAGACAAATTCTTGATCTGGAAGAAGAAATATACAAACAAGGAAAAAGAAAAAAGGCCATTGAAAATGCAAAGCAATATCAATTTTACCAGACAGAAAGAGTGAAAAACTTTCAT
Seq A exon
TCGGGACTTCTTCTTAGTAGAGTTATGAAAGAACGTGATGCCCAGATTGAATTCCGAAAGAGTAAGATAAAATCAGATAAAAAATGGGAGGAACAGTTGAAACTCAACATTGAAAAAGCTTTTAAAGAAGAACAAGAAAAAGCAGAAAAACGACACAGAGAAAGGGTGGCTCTTGCCAAAGATCATCTAAAACA
Seq C2 exon
AATAAAGGAACATGAGGAAGAAGAGGAAAGAAGGAAAAAATATGAAGAAAAAGATGCTGAGGAAATAAAGCGACAGAATGCATTATATGAAATTGAAATGAGAAAAAAACTAGAAAAGAAAAGAGAAGAGATGCATGAAAGCAGGAGACGGTTTCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154479-'8-18,'8-13,9-18=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.144 A=0.258 C2=0.535
Domain overlap (PFAM):

C1:
PF138681=Trichoplein=PU(2.7=15.5)
A:
PF138681=Trichoplein=FE(19.0=100)
C2:
PF138681=Trichoplein=FE(15.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAAGAACAGAAACTTGAAGCCA
R:
TCTGTCGCTTTATTTCCTCAGCA
Band lengths:
247-441
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains