HsaEX0013065 @ hg19
Exon Skipping
Gene
ENSG00000120051 | CCDC147
Description
coiled-coil domain containing 147 [Source:HGNC Symbol;Acc:26676]
Coordinates
chr10:106130653-106139978:+
Coord C1 exon
chr10:106130653-106130812
Coord A exon
chr10:106136569-106136651
Coord C2 exon
chr10:106139787-106139978
Length
83 bp
Sequences
Splice sites
3' ss Seq
TTTTCTCCCTGGGGATTCAGAGG
3' ss Score
4.15
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GCCAAAGAGGAAGAAGTCCATCAAATGCGCCTTGACATCGGGAAGCTCAACAAAATCAGAGAACAAATTCATAAGAAATTGCACCACACCGAAGATCAAAAGGCAGAAGTCGAACAGCACAAAGAAACCCTAAAAAATCAGATTGTGGGATTAGAGAGAG
Seq A exon
AGGTAGAGGCTTCAAAGAAACAAGCAGAACTTGACAGAAAGGCAATGGACGAGCTTCTAAGAGAAAGGGACATACTAAATAAG
Seq C2 exon
AACATGCTTAAGGCGGTCAATGCGACCCAGAAGCAGACAGACTTGGTAAAGCTCCATGAACAAGCCAAGAGGAACCTGGAGGGAGAAATCCAGAACTACAAGGATGAGGCTCAGAAGCAGAGAAAGATCATCTTTCATCTGGAAAAGGAGCGTGACCGGTACATCAACCAAGCCAGTGACCTTACGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120051_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.593 A=0.273 C2=0.336
Domain overlap (PFAM):
C1:
NO
A:
PF060089=Laminin_I=PU(14.3=92.3),PF078897=DUF1664=PU(5.3=30.8),PF0310911=ABC1=PU(13.0=69.2)
C2:
PF060089=Laminin_I=FE(75.0=100),PF078897=DUF1664=FE(82.9=100),PF0310911=ABC1=PD(84.1=90.6),PF146481=FAM91_C=PU(87.5=87.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCATCAAATGCGCCTTGACA
R:
GCATTGACCGCCTTAAGCATG
Band lengths:
167-250
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)