Special

HsaEX6016602 @ hg38

Exon Skipping

Gene
ENSG00000154479 | CCDC173
Description
coiled-coil domain containing 173 [Source:HGNC Symbol;Acc:HGNC:25064]
Coordinates
chr2:169674576-169694433:-
Coord C1 exon
chr2:169694261-169694433
Coord A exon
chr2:169674867-169675040
Coord C2 exon
chr2:169674576-169674769
Length
174 bp
Sequences
Splice sites
3' ss Seq
TTGTGTTTGTCTTTTTACAGGGG
3' ss Score
10.61
5' ss Seq
CATGTACTA
5' ss Score
-4.29
Exon sequences
Seq C1 exon
ACTTCCGGCGGCGTTGCCAAGCAACCGCGTGGTACGAGTAACAACTCCACCGGCTGGCGTCCGCGGCGCTTGGCGCCACAGTCACTTTTCCAGATCTAGGAGCATCATGGACACCTCGTCAGAGATGCTGGTACGGTTTGGACGGCGCTGTGGACGGGCGAAGGAAAGTACAG
Seq A exon
GGGATGAAAGAACAGAAACTTGAAGCCAAAAAGAAGCGTGATGAAGAAATAGAGGCAGAAAGACAAATTCTTGATCTGGAAGAAGAAATATACAAACAAGGAAAAAGAAAAAAGGCCATTGAAAATGCAAAGCAATATCAATTTTACCAGACAGAAAGAGTGAAAAACTTTCAT
Seq C2 exon
TCGGGACTTCTTCTTAGTAGAGTTATGAAAGAACGTGATGCCCAGATTGAATTCCGAAAGAGTAAGATAAAATCAGATAAAAAATGGGAGGAACAGTTGAAACTCAACATTGAAAAAGCTTTTAAAGAAGAACAAGAAAAAGCAGAAAAACGACACAGAGAAAGGGTGGCTCTTGCCAAAGATCATCTAAAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154479-'0-13,'0-11,8-13=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.148 A=0.144 C2=0.258
Domain overlap (PFAM):

C1:
NO
A:
PF138681=Trichoplein=PU(2.7=15.5)
C2:
PF138681=Trichoplein=FE(19.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000447353fB11519


Other Inclusion Isoforms:


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:
GAGCATCATGGACACCTCGTC
R:
AGAGCCACCCTTTCTCTGTGT
Band lengths:
247-421
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains