HsaEX0010785 @ hg38
Exon Skipping
Gene
ENSG00000154479 | CCDC173
Description
coiled-coil domain containing 173 [Source:HGNC Symbol;Acc:HGNC:25064]
Coordinates
chr2:169674867-169694433:-
Coord C1 exon
chr2:169694261-169694433
Coord A exon
chr2:169681007-169681233
Coord C2 exon
chr2:169674867-169675040
Length
227 bp
Sequences
Splice sites
3' ss Seq
CATTTTTTACAATTTATTAGAAA
3' ss Score
4.27
5' ss Seq
GCAGTAAGT
5' ss Score
9.07
Exon sequences
Seq C1 exon
ACTTCCGGCGGCGTTGCCAAGCAACCGCGTGGTACGAGTAACAACTCCACCGGCTGGCGTCCGCGGCGCTTGGCGCCACAGTCACTTTTCCAGATCTAGGAGCATCATGGACACCTCGTCAGAGATGCTGGTACGGTTTGGACGGCGCTGTGGACGGGCGAAGGAAAGTACAG
Seq A exon
AAATAAGAAACTCTGAAGAAGATCAAGTTCTCTATCTGCCTCTTCTACCTAGCAAAGTAGATCTCCAGCAGGTCACCATAATTCCACACGATGAGTGGAAAAGGATTCAAGATAGCCTTGACAGGTTGACAAGAGAAGCAGCATGCCTCCGTGCAGAAAGAAAGGCAAAGAAAGAAATGCATTTGCGATCTCAAGAAGTGGTAAAACACTGGACTAATACATATGCA
Seq C2 exon
GGGATGAAAGAACAGAAACTTGAAGCCAAAAAGAAGCGTGATGAAGAAATAGAGGCAGAAAGACAAATTCTTGATCTGGAAGAAGAAATATACAAACAAGGAAAAAGAAAAAAGGCCATTGAAAATGCAAAGCAATATCAATTTTACCAGACAGAAAGAGTGAAAAACTTTCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154479_MULTIEX1-3/3=C1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.148 A=0.025 C2=0.144
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF138681=Trichoplein=PU(2.7=15.5)
Main Skipping Isoform:
ENST00000447353fB11519
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTAACAACTCCACCGGCTG
R:
AGTTTTTCACTCTTTCTGTCTGGT
Band lengths:
307-534
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development